{"frequencyBands":{"HP:0040280":[100,100],"HP:0040281":[80,99],"HP:0040282":[30,79],"HP:0040283":[5,29],"HP:0040284":[1,4],"HP:0040285":[0,0]},"page":{"columns":[{"gene":"","key":"MONDO:0007875/OMIM:150250","label":"Larsen syndrome","mondoId":"MONDO:0007875","onsetQualifier":null,"recordKeys":["0c2ee959b9d696433f911476636acd33a557fdecb1be9c87ab9cc77b59f5bedb","16e3f070d343af9190b479cc0f9a29838d21b6434a5e2300f8b8dfc033bbee4c","1887d150f3f08eae74160112f551f94508746ebc75bf88062983c6f9a84edef5","1c7cee22ff2e4c9fc067351e5f9525286531f61e138b2a755cac2a8c62593b71","1fcd20519279252e249e61bdeec65c385da218a07dbdb77dcfed51ad72809f1b","236108d1de172431f21660cdea12a404fe5d31ca8e44072cdbef9afdce3697e7","29bc9d48f139b2a21e2cf1a3b29360573a78c611d625b19f860fb028d55d15a6","2a8908e73e09ac9d7a9a76c4e2789b410faf53f5f733d1617e904b76b8cde6fb","33f70cfb2dfa2ad12696c0087cbe51bddeceeca7a9f1adc8fe95ab84a0192cea","38f7aa45328c52bc00e19732c9838552e2091f75f9586e2041ed11a5f61ad116","410c4bfe2352d4dbdc089936104756a00e91faad00f5b837b01f97752b63bc26","434f78255ad14e8b42fa3dfdc533f8df79120fa1ddc3df36473d0f17753b51d2","44be2ace019e8fe23cadc8b115d995ee56f5e81038308f2fa8b4e70996fa78b5","45e3d8a3b8bf46d8aede6b69b995f845b9d6e17e6d8f0a99aef276f247424d8c","483a78219863849df9f0090670947f1e57ff08a056e16e525563493e3ec31941","4edbdd0c70be7b966213fc6d6b3dc96f0b414ed284de36020a633ad317564315","50161f9ebfaedf96396dcea27e610386018a0d234f50b81d55f6012da690a49e","5670cd7d6e514955fd33768ac24d02f36789f6afd067d36e53996d78206972b5","5fd9729d1e9e9883b0d7f96e4486d780ff77e4bff00fac76d329a771d55c87cb","6461f657c651834c7f58762bbf04dc77b941ca3a1df66f6eb9e76011aafdc06b","6619df1e11e03a7ffff6a07162621c8a001db69a24d10cde9238f77ebadc00f1","6f3da5dceddbea43855a844b14b785ab6c63fe8f34c0723d856278225ffe7f41","70c81cc89edce6cc150ec68b753583dc3dedf36168bf66103664601437da167d","86091e8e8cddae26067c651876421e20da84cbbaa98f98e5e0c502e0ded668ee","8ea373efad3353b05f60e1ee69b70365f0f6d8994fbf875994669fda40d860d5","8f8a3cb8f7ccf5e88a423ea5b181799e3ff2101a3f31131595fa2f6e9838a319","94349421eac9831bb5a80e692cf08419e4ee0d5ed69c70eb3bb0a054af09aba1","9cee5f07580abba9eef52f8f2816111e3b9ecd9a7c00d4f8cdc012447c516219","9ff212cdb64f0b318c9d608b1d12bdf36c2697b600e7a7990a32dbe62295d391","a4bdeea3c0cc9fa468a41db28c159b35a7cdbc1660793155b15f2c7d63ac3218","b5011baf7fa2cfa400e0b3ae829461eb8ab057566290f9f98f316b30188a55fe","b509f7a55672c3edc9cf161860bdcbc297081cf54433f2ce9fbfe68b410e4937","ba3ea4800a39fc214b92299797a39aa8b938abb853427deca4463c5baed14020","c43534942ca1b6385c4873875a1daba8a185c3dfea1004c3e78b1ebb78749b47","c9ebd31ac4beabc9b13d55d95f6552020567a4a3cd6bfdc5d20a0b2ba7e364e3","cf510df78b0e20d5276f25eaddac8e0e927b6a504cb6ed2ffc7299bcb1bb44ad","d4dbc28aaf96257bdb2c8df86245b3304273acb968e92e9cdaff5ed60661122b","db6a69a3b435e8a137d1efc12dea242fc1c44a0629b85a310371ac8d444a78af","ddd0fdd08d40fe04dd511234b742c6e84250060a4b7c983af7eadc785bb769ec","e718a9c01b70c358bfb505275d9f1ce2bb310b204933617a29239b68f79caf33","e811df95fbd04f347e28363b8a29b56508dae4f91be750f35a6e7c44eef2b514","e978bef677c450ad492ed998147a70032d11be626c27204cc067d3a592c1c329","f195597b1a9b04706575c80be8aed3521630372a71c7df8fe6958de1bcae6372","f93e50be0f0158b9497cde2c88d0d45fa0fc368ad23a69f1133bea92736d25b0","fb0048b83a1bcb65affc19415d005900cb4703b08fc0dc26a50973331879b375","fbdac22601ad2b6a2b303d5c311ade0e2f5033d12bcd49635f39684b5a5a3a69","fc9315b8171608e2810861aa8c723b878ca40b1228920f49e49d736bcf9c9693","ff3cb613840baff602d55ece157ed962077275fe8e063dcd59f388d82a97027b","ffef15501b205c33c875cd720cad68cdc39434f7a3f1edb5ffc0d5eaac0bfbe5"],"recordQualifiers":{},"scopeLabel":"OMIM:150250","sourceIds":["OMIM:150250"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0007875/ORPHA:503","label":"Larsen syndrome","mondoId":"MONDO:0007875","onsetQualifier":null,"recordKeys":["093e73415b290f5f904942c2a4248a3fb1dd9f56a0991359027f4d49fb4743fb","0a018930acebdc9b26662c23f8c7268ea6f50e66b48da3b9e1a88e75096deb0f","0b4a7759bd755945d1f58c7852d9e665acd7af4b4fe478357f8b370fd322883b","1d0eb11c646cdeaee3420fdaf1c6510256b9fbc577f375ad8d1951f7409dc62d","23ca478e08b4558e8909a2d0527c466999336d47323a93ab00270b0213a09b29","307e1fa2e797d19b217b0a25eff86acc2389bf5bf6ce83fcb733a3a57656d880","3109e36dda6c5a3e42f9b2fd7ce97c42b5dc0c647e41d0773deca384542e3059","32df9c59f9da3d142d5df0be9a974089af3f12d7d59338690f5970cf8b8918cb","3e595a8104d685341d746aac1583da9127d572e76175af6f523c0abc5b34e16f","45911e1b806d8bfbe80ac730123d0a0804bcd6a9531b6ea92a71c8b44f60f327","565f906cccde8549478a32819bab1fbaf12a84ddf3f23ce0c7020f1464ff5362","58eaa07803168fe4eca4ed8181f585e3ff9edec3661965cc20ca89d830d6ff64","66e5b99f02b50ab28e98515d293cde7794c93ff4c80e0bc53017a5174a8647c0","72de0cd3e22caeb3319ebf3da463e3b25cd2b9621b12fc268c3331be61988dd8","73587b2ae166b2071a3046f9e2ac4151846f5fcee6ade45d2ee1dbd2ae70fbfe","7730c3c82896fd33b27cbd92cdfd9698a93490448db2a0c44d6bb5ca2e0df9cd","7ce9d5b1cd47e01084c5be8de60533afe404af1750f18280d3e77fcd0a1d0f71","7ddef6f32c0d229379b6b4d039acc40551d1c120d793afff1bdae12b3088d7ef","81ec3a4f6f0f570e0dd1a5aed5e8e2c003f1c8095f85afeb96fdf5ffaaf29d1e","8a8d89a70269ccecea1186bcc1f27c1abee67bb4f5d09418598bc4d5b3e00764","9439cdae1b446c06273bee966d9a2dca9e55255b18aa23d86ffc112028c1ca9b","b0f0e4bc7485fa64fac737c164d7b504512514f2e402d463466e0bb91694f92c","bf2306179f9d82243d8db9c66895ac00b89f436794f377e95052666bd54aa9af","d62ff3dde399f7c779c009dc73fc01267feacddbb8aa70a67a5be59529bd5fcb","dc665c5cf1d3ecbdb49720d6e969abd272d72dac337b3c490766c7144c74b960","e8fd693d5829aa7cebe3962bf09a32b2c871a904b796ec34df1665bc148e0058","f9c06f606489c99a60b37ce7fa0c4652d8441df45469b460219ef0b3609d7238"],"recordQualifiers":{},"scopeLabel":"ORPHA:503","sourceIds":["ORPHA:503"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0007875/OMIM:150250","MONDO:0007875/ORPHA:503"],"expandColumnsLabel":"Compare all source entries","intro":"Compare the original source entries. Different entries may describe different patient groups.","primaryFeatureIds":[],"scopeNoteHtml":"<p>Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.</p>"},"coverage":{"countRecords":13,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":76,"sourceGroups":{"omim":36,"orphanet":27,"published":13}},"features":[{"hpoId":"HP:0005930","label":"Abnormal epiphysis morphology","primary":false},{"hpoId":"HP:0001626","label":"Abnormality of the cardiovascular system","primary":false},{"hpoId":"HP:0003319","label":"Abnormality of the cervical spine","primary":false},{"hpoId":"HP:0004232","label":"Accessory carpal bones","primary":false},{"hpoId":"HP:0004942","label":"Aortic aneurysm","primary":false},{"hpoId":"HP:0001631","label":"Atrial septal defect","primary":false},{"hpoId":"HP:0004568","label":"Beaking of vertebral bodies","primary":false},{"hpoId":"HP:0008127","label":"Bipartite calcaneus","primary":false},{"hpoId":"HP:0001156","label":"Brachydactyly","primary":false},{"hpoId":"HP:0009836","label":"Broad distal phalanx of finger","primary":false},{"hpoId":"HP:0011304","label":"Broad thumb","primary":false},{"hpoId":"HP:0002780","label":"Bronchomalacia","primary":false},{"hpoId":"HP:0002947","label":"Cervical kyphosis","primary":false},{"hpoId":"HP:0000175","label":"Cleft palate","primary":false},{"hpoId":"HP:0000204","label":"Cleft upper lip","primary":false},{"hpoId":"HP:0000405","label":"Conductive hearing impairment","primary":false},{"hpoId":"HP:0007957","label":"Corneal opacity","primary":false},{"hpoId":"HP:0001363","label":"Craniosynostosis","primary":false},{"hpoId":"HP:0000028","label":"Cryptorchidism","primary":false},{"hpoId":"HP:0005280","label":"Depressed nasal bridge","primary":false},{"hpoId":"HP:0003994","label":"Dislocated wrist","primary":false},{"hpoId":"HP:0003042","label":"Elbow dislocation","primary":false},{"hpoId":"HP:0006101","label":"Finger syndactyly","primary":false},{"hpoId":"HP:0012368","label":"Flat face","primary":false},{"hpoId":"HP:0002007","label":"Frontal bossing","primary":false},{"hpoId":"HP:0000365","label":"Hearing loss","primary":false},{"hpoId":"HP:0002827","label":"Hip dislocation","primary":false},{"hpoId":"HP:0000316","label":"Hypertelorism","primary":false},{"hpoId":"HP:0000668","label":"Hypodontia","primary":false},{"hpoId":"HP:0008434","label":"Hypoplastic cervical vertebrae","primary":false},{"hpoId":"HP:0001249","label":"Intellectual disability","primary":false},{"hpoId":"HP:0001511","label":"Intrauterine growth retardation","primary":false},{"hpoId":"HP:0001382","label":"Joint hypermobility","primary":false},{"hpoId":"HP:0004976","label":"Knee dislocation","primary":false},{"hpoId":"HP:0005008","label":"Large joint dislocations","primary":false},{"hpoId":"HP:0008755","label":"Laryngotracheomalacia","primary":false},{"hpoId":"HP:0000272","label":"Malar flattening","primary":false},{"hpoId":"HP:0011800","label":"Midface retrusion","primary":false},{"hpoId":"HP:0006067","label":"Multiple carpal ossification centers","primary":false},{"hpoId":"HP:0000768","label":"Pectus carinatum","primary":false},{"hpoId":"HP:0000767","label":"Pectus excavatum","primary":false},{"hpoId":"HP:0011220","label":"Prominent forehead","primary":false},{"hpoId":"HP:0002093","label":"Respiratory insufficiency","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0000586","label":"Shallow orbits","primary":false},{"hpoId":"HP:0009882","label":"Short distal phalanx of finger","primary":false},{"hpoId":"HP:0010049","label":"Short metacarpal","primary":false},{"hpoId":"HP:0010743","label":"Short metatarsal","primary":false},{"hpoId":"HP:0001799","label":"Short nail","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0001222","label":"Spatulate thumbs","primary":false},{"hpoId":"HP:0003298","label":"Spina bifida occulta","primary":false},{"hpoId":"HP:0002176","label":"Spinal cord compression","primary":false},{"hpoId":"HP:0003304","label":"Spondylolysis","primary":false},{"hpoId":"HP:0001772","label":"Talipes equinovalgus","primary":false},{"hpoId":"HP:0001762","label":"Talipes equinovarus","primary":false},{"hpoId":"HP:0003883","label":"Tapered humerus","primary":false},{"hpoId":"HP:0002777","label":"Tracheal stenosis","primary":false},{"hpoId":"HP:0002779","label":"Tracheomalacia","primary":false},{"hpoId":"HP:0001629","label":"Ventricular septal defect","primary":false},{"hpoId":"HP:0002948","label":"Vertebral fusion","primary":false},{"hpoId":"HP:0003422","label":"Vertebral segmentation defect","primary":false}],"ledeHtml":"Larsen syndrome is a disorder that affects the development of bones throughout the body. The signs and symptoms of Larsen syndrome vary widely even within the same family. Affected individuals are usually born with dislocations of the hips, knees, or elbows. Foot abnormalities, such as inward- and upward-turning feet (clubfeet), are also common. Affected individuals generally have small extra bones in their wrists and ankles that are visible on x-ray images. The tips of their fingers, especially the thumbs, are typically blunt and square-shaped (spatulate).","mondoId":"MONDO:0007875","records":[{"frequencyKind":"range","key":"093e73415b290f5f904942c2a4248a3fb1dd9f56a0991359027f4d49fb4743fb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001156","is_excluded":false,"label":"Brachydactyly","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0a018930acebdc9b26662c23f8c7268ea6f50e66b48da3b9e1a88e75096deb0f","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0b4a7759bd755945d1f58c7852d9e665acd7af4b4fe478357f8b370fd322883b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011304","is_excluded":false,"label":"Broad thumb","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"0c2ee959b9d696433f911476636acd33a557fdecb1be9c87ab9cc77b59f5bedb","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002779","is_excluded":false,"label":"Tracheomalacia","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"16e3f070d343af9190b479cc0f9a29838d21b6434a5e2300f8b8dfc033bbee4c","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003304","is_excluded":false,"label":"Spondylolysis","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"1887d150f3f08eae74160112f551f94508746ebc75bf88062983c6f9a84edef5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"PCS","frequency_raw":"3/16","hpo_id":"HP:0003883","is_excluded":false,"label":"Tapered humerus","onset_id":null,"reference":"PMID:16801345","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"1c7cee22ff2e4c9fc067351e5f9525286531f61e138b2a755cac2a8c62593b71","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"1d0eb11c646cdeaee3420fdaf1c6510256b9fbc577f375ad8d1951f7409dc62d","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001626","is_excluded":false,"label":"Abnormality of the cardiovascular system","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1fcd20519279252e249e61bdeec65c385da218a07dbdb77dcfed51ad72809f1b","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002176","is_excluded":false,"label":"Spinal cord compression","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"236108d1de172431f21660cdea12a404fe5d31ca8e44072cdbef9afdce3697e7","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003994","is_excluded":false,"label":"Dislocated wrist","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"23ca478e08b4558e8909a2d0527c466999336d47323a93ab00270b0213a09b29","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005008","is_excluded":false,"label":"Large joint dislocations","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"29bc9d48f139b2a21e2cf1a3b29360573a78c611d625b19f860fb028d55d15a6","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0012368","is_excluded":false,"label":"Flat face","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"2a8908e73e09ac9d7a9a76c4e2789b410faf53f5f733d1617e904b76b8cde6fb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004232","is_excluded":false,"label":"Accessory carpal bones","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"307e1fa2e797d19b217b0a25eff86acc2389bf5bf6ce83fcb733a3a57656d880","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000272","is_excluded":false,"label":"Malar flattening","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"3109e36dda6c5a3e42f9b2fd7ce97c42b5dc0c647e41d0773deca384542e3059","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0012368","is_excluded":false,"label":"Flat face","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"32df9c59f9da3d142d5df0be9a974089af3f12d7d59338690f5970cf8b8918cb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0009836","is_excluded":false,"label":"Broad distal phalanx of finger","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"33f70cfb2dfa2ad12696c0087cbe51bddeceeca7a9f1adc8fe95ab84a0192cea","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000204","is_excluded":false,"label":"Cleft upper lip","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"38f7aa45328c52bc00e19732c9838552e2091f75f9586e2041ed11a5f61ad116","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0006067","is_excluded":false,"label":"Multiple carpal ossification centers","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"3e595a8104d685341d746aac1583da9127d572e76175af6f523c0abc5b34e16f","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001363","is_excluded":false,"label":"Craniosynostosis","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"410c4bfe2352d4dbdc089936104756a00e91faad00f5b837b01f97752b63bc26","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0010743","is_excluded":false,"label":"Short metatarsal","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"434f78255ad14e8b42fa3dfdc533f8df79120fa1ddc3df36473d0f17753b51d2","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001631","is_excluded":false,"label":"Atrial septal defect","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"44be2ace019e8fe23cadc8b115d995ee56f5e81038308f2fa8b4e70996fa78b5","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000272","is_excluded":false,"label":"Malar flattening","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"45911e1b806d8bfbe80ac730123d0a0804bcd6a9531b6ea92a71c8b44f60f327","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0011220","is_excluded":false,"label":"Prominent forehead","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"45e3d8a3b8bf46d8aede6b69b995f845b9d6e17e6d8f0a99aef276f247424d8c","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002007","is_excluded":false,"label":"Frontal bossing","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"483a78219863849df9f0090670947f1e57ff08a056e16e525563493e3ec31941","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":null,"hpo_id":"HP:0011220","is_excluded":false,"label":"Prominent forehead","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"4edbdd0c70be7b966213fc6d6b3dc96f0b414ed284de36020a633ad317564315","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008434","is_excluded":false,"label":"Hypoplastic cervical vertebrae","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"50161f9ebfaedf96396dcea27e610386018a0d234f50b81d55f6012da690a49e","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"PCS","frequency_raw":"3/20","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"PMID:16801345","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"565f906cccde8549478a32819bab1fbaf12a84ddf3f23ce0c7020f1464ff5362","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001799","is_excluded":false,"label":"Short nail","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"5670cd7d6e514955fd33768ac24d02f36789f6afd067d36e53996d78206972b5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"PCS","frequency_raw":"8/16","hpo_id":"HP:0002948","is_excluded":false,"label":"Vertebral fusion","onset_id":null,"reference":"PMID:16801345","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"58eaa07803168fe4eca4ed8181f585e3ff9edec3661965cc20ca89d830d6ff64","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"5fd9729d1e9e9883b0d7f96e4486d780ff77e4bff00fac76d329a771d55c87cb","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0003298","is_excluded":false,"label":"Spina bifida occulta","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"6461f657c651834c7f58762bbf04dc77b941ca3a1df66f6eb9e76011aafdc06b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"PCS","frequency_raw":"16/20","hpo_id":"HP:0002827","is_excluded":false,"label":"Hip dislocation","onset_id":"HP:0003577","reference":"PMID:16801345","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"6619df1e11e03a7ffff6a07162621c8a001db69a24d10cde9238f77ebadc00f1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"PCS","frequency_raw":"17/18","hpo_id":"HP:0001222","is_excluded":false,"label":"Spatulate thumbs","onset_id":null,"reference":"PMID:16801345","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"66e5b99f02b50ab28e98515d293cde7794c93ff4c80e0bc53017a5174a8647c0","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002093","is_excluded":false,"label":"Respiratory insufficiency","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"6f3da5dceddbea43855a844b14b785ab6c63fe8f34c0723d856278225ffe7f41","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0005280","is_excluded":false,"label":"Depressed nasal bridge","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"70c81cc89edce6cc150ec68b753583dc3dedf36168bf66103664601437da167d","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"PCS","frequency_raw":"19/20","hpo_id":"HP:0011800","is_excluded":false,"label":"Midface retrusion","onset_id":null,"reference":"PMID:16801345","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"72de0cd3e22caeb3319ebf3da463e3b25cd2b9621b12fc268c3331be61988dd8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003319","is_excluded":false,"label":"Abnormality of the cervical spine","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"73587b2ae166b2071a3046f9e2ac4151846f5fcee6ade45d2ee1dbd2ae70fbfe","raw":{"aspect":"P","body_system":"eye","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0000316","is_excluded":false,"label":"Hypertelorism","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7730c3c82896fd33b27cbd92cdfd9698a93490448db2a0c44d6bb5ca2e0df9cd","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003422","is_excluded":false,"label":"Vertebral segmentation defect","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7ce9d5b1cd47e01084c5be8de60533afe404af1750f18280d3e77fcd0a1d0f71","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0005930","is_excluded":false,"label":"Abnormal epiphysis morphology","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"7ddef6f32c0d229379b6b4d039acc40551d1c120d793afff1bdae12b3088d7ef","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"81ec3a4f6f0f570e0dd1a5aed5e8e2c003f1c8095f85afeb96fdf5ffaaf29d1e","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"86091e8e8cddae26067c651876421e20da84cbbaa98f98e5e0c502e0ded668ee","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001511","is_excluded":false,"label":"Intrauterine growth retardation","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"8a8d89a70269ccecea1186bcc1f27c1abee67bb4f5d09418598bc4d5b3e00764","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"8ea373efad3353b05f60e1ee69b70365f0f6d8994fbf875994669fda40d860d5","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"PCS","frequency_raw":"4/19","hpo_id":"HP:0000365","is_excluded":false,"label":"Hearing impairment","onset_id":null,"reference":"PMID:16801345","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"8f8a3cb8f7ccf5e88a423ea5b181799e3ff2101a3f31131595fa2f6e9838a319","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001799","is_excluded":false,"label":"Short nail","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"94349421eac9831bb5a80e692cf08419e4ee0d5ed69c70eb3bb0a054af09aba1","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"PCS","frequency_raw":"16/20","hpo_id":"HP:0004976","is_excluded":false,"label":"Knee dislocation","onset_id":"HP:0003577","reference":"PMID:16801345","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"9439cdae1b446c06273bee966d9a2dca9e55255b18aa23d86ffc112028c1ca9b","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0009882","is_excluded":false,"label":"Short distal phalanx of finger","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"count","key":"9cee5f07580abba9eef52f8f2816111e3b9ecd9a7c00d4f8cdc012447c516219","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"PCS","frequency_raw":"15/20","hpo_id":"HP:0001762","is_excluded":false,"label":"Talipes equinovarus","onset_id":null,"reference":"PMID:16801345","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"9ff212cdb64f0b318c9d608b1d12bdf36c2697b600e7a7990a32dbe62295d391","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"PCS","frequency_raw":"13/20","hpo_id":"HP:0003042","is_excluded":false,"label":"Elbow dislocation","onset_id":"HP:0003577","reference":"PMID:16801345","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"count","key":"a4bdeea3c0cc9fa468a41db28c159b35a7cdbc1660793155b15f2c7d63ac3218","raw":{"aspect":"P","body_system":"growth","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"PCS","frequency_raw":"14/20","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"PMID:16801345","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b0f0e4bc7485fa64fac737c164d7b504512514f2e402d463466e0bb91694f92c","raw":{"aspect":"P","body_system":"respiratory","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0008755","is_excluded":false,"label":"Laryngotracheomalacia","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b5011baf7fa2cfa400e0b3ae829461eb8ab057566290f9f98f316b30188a55fe","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001629","is_excluded":false,"label":"Ventricular septal defect","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"b509f7a55672c3edc9cf161860bdcbc297081cf54433f2ce9fbfe68b410e4937","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001772","is_excluded":false,"label":"Talipes equinovalgus","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ba3ea4800a39fc214b92299797a39aa8b938abb853427deca4463c5baed14020","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002780","is_excluded":false,"label":"Bronchomalacia","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"bf2306179f9d82243d8db9c66895ac00b89f436794f377e95052666bd54aa9af","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"c43534942ca1b6385c4873875a1daba8a185c3dfea1004c3e78b1ebb78749b47","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000586","is_excluded":false,"label":"Shallow orbits","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"c9ebd31ac4beabc9b13d55d95f6552020567a4a3cd6bfdc5d20a0b2ba7e364e3","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000768","is_excluded":false,"label":"Pectus carinatum","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"cf510df78b0e20d5276f25eaddac8e0e927b6a504cb6ed2ffc7299bcb1bb44ad","raw":{"aspect":"P","body_system":"respiratory","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002777","is_excluded":false,"label":"Tracheal stenosis","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"d4dbc28aaf96257bdb2c8df86245b3304273acb968e92e9cdaff5ed60661122b","raw":{"aspect":"P","body_system":"ear","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000405","is_excluded":false,"label":"Conductive hearing impairment","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"d62ff3dde399f7c779c009dc73fc01267feacddbb8aa70a67a5be59529bd5fcb","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006101","is_excluded":false,"label":"Finger syndactyly","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"db6a69a3b435e8a137d1efc12dea242fc1c44a0629b85a310371ac8d444a78af","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0010049","is_excluded":false,"label":"Short metacarpal","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"dc665c5cf1d3ecbdb49720d6e969abd272d72dac337b3c490766c7144c74b960","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001249","is_excluded":false,"label":"Intellectual disability","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"ddd0fdd08d40fe04dd511234b742c6e84250060a4b7c983af7eadc785bb769ec","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0001382","is_excluded":false,"label":"Joint hypermobility","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"e718a9c01b70c358bfb505275d9f1ce2bb310b204933617a29239b68f79caf33","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"PCS","frequency_raw":"12/20","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"PMID:16801345","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"e811df95fbd04f347e28363b8a29b56508dae4f91be750f35a6e7c44eef2b514","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0002947","is_excluded":false,"label":"Cervical kyphosis","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"range","key":"e8fd693d5829aa7cebe3962bf09a32b2c871a904b796ec34df1665bc148e0058","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004232","is_excluded":false,"label":"Accessory carpal bones","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"e978bef677c450ad492ed998147a70032d11be626c27204cc067d3a592c1c329","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000028","is_excluded":false,"label":"Cryptorchidism","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"f195597b1a9b04706575c80be8aed3521630372a71c7df8fe6958de1bcae6372","raw":{"aspect":"P","body_system":"eye","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0007957","is_excluded":false,"label":"Corneal opacity","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"f93e50be0f0158b9497cde2c88d0d45fa0fc368ad23a69f1133bea92736d25b0","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"PCS","frequency_raw":"3/20","hpo_id":"HP:0000175","is_excluded":false,"label":"Cleft palate","onset_id":null,"reference":"PMID:16801345","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"f9c06f606489c99a60b37ce7fa0c4652d8441df45469b460219ef0b3609d7238","raw":{"aspect":"P","body_system":"ear","disease_id":"ORPHA:503","disease_name":"Larsen syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000405","is_excluded":false,"label":"Conductive hearing impairment","onset_id":null,"reference":"ORPHA:503","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"fb0048b83a1bcb65affc19415d005900cb4703b08fc0dc26a50973331879b375","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0008127","is_excluded":false,"label":"Bipartite calcaneus","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fbdac22601ad2b6a2b303d5c311ade0e2f5033d12bcd49635f39684b5a5a3a69","raw":{"aspect":"P","body_system":"head_and_neck","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000668","is_excluded":false,"label":"Hypodontia","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"fc9315b8171608e2810861aa8c723b878ca40b1228920f49e49d736bcf9c9693","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004568","is_excluded":false,"label":"Beaking of vertebral bodies","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ff3cb613840baff602d55ece157ed962077275fe8e063dcd59f388d82a97027b","raw":{"aspect":"P","body_system":"cardiovascular","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0004942","is_excluded":false,"label":"Aortic aneurysm","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"reported","key":"ffef15501b205c33c875cd720cad68cdc39434f7a3f1edb5ffc0d5eaac0bfbe5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:150250","disease_name":"Larsen syndrome","evidence":"IEA","frequency_raw":null,"hpo_id":"HP:0000767","is_excluded":false,"label":"Pectus excavatum","onset_id":null,"reference":"OMIM:150250","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/larsen-syndrome\">Larsen syndrome</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Mutations in the FLNB gene cause Larsen syndrome. The FLNB gene provides instructions for making a protein called filamin B. This protein helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin B attaches (binds) to another protein called actin and helps the actin form the branching network of filaments that makes up the cytoskeleton. It also links actin to many other proteins to perform various functions within the cell, including the cell signaling that helps determine how the cytoskeleton will change as tissues grow and take shape during development.</p><p>Filamin B is especially important in the development of the skeleton before birth. It is active (expressed) in the cell membranes of cartilage-forming cells (chondrocytes). Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone (a process called ossification), except for the cartilage that continues to cover and protect the ends of bones and is present in the nose, airways (trachea and bronchi), and external ears. Filamin B appears to be important for normal cell growth and division (proliferation), for maturation (differentiation) of chondrocytes, and for the ossification of cartilage.</p><p>FLNB gene mutations that cause Larsen syndrome change single protein building blocks (amino acids) in the filamin B protein or delete a small section of the protein sequence, resulting in an abnormal protein. This abnormal protein appears to have a new, atypical function that interferes with the proliferation or differentiation of chondrocytes, impairing ossification and leading to the signs and symptoms of Larsen syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/larsen-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Larsen syndrome?"},{"bodyHtml":"<p>Characteristic facial features in people with Larsen syndrome include a prominent forehead (frontal bossing), flattening of the bridge of the nose and middle of the face (midface hypoplasia), and wide-set eyes (ocular hypertelorism). Many people with Larsen syndrome have an opening in the roof of the mouth (a cleft palate). Affected individuals may also have hearing loss caused by malformations in tiny bones in the ears (ossicles).</p><p>Short stature is a common feature of Larsen syndrome. In addition, people with the condition may have an unusually large range of joint movement (hypermobility) or joint deformities (contractures) that restrict movement. People with Larsen syndrome can also have abnormal curvature of the spine (kyphosis or scoliosis) that can impair breathing or compress the spinal cord and lead to weakness of the limbs. Some affected individuals experience respiratory problems, such as partial closing of the airways, short pauses in breathing (apnea), and frequent respiratory infections. Heart and kidney problems can also occur in people with Larsen syndrome. People with this condition can survive into adulthood. Their intellectual function is usually unaffected.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/larsen-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"larsen-syndrome","sourceDocuments":[{"name":"Larsen syndrome","reviewed":"2011-09","sections":{"causes":{"fetchedAt":"2026-10-20T20:22:49.632759+00:00","label":"Causes","pageSha256":"9e0a6f754f25afef13a553455cbcc05c73793b2a808b66b6671008659dcbacdf","sourceUrl":"https://medlineplus.gov/genetics/condition/larsen-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/larsen-syndrome"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Larsen syndrome"},"schemaVersion":1}