{"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:0013808/OMIM:614569","label":"Multiple enchondromatosis, Maffucci type","mondoId":"MONDO:0013808","onsetQualifier":null,"recordKeys":["1495a6e8c42f5b5018fc79b87c83f8dacf107659ef217fbb7f2db478192ce8cc","4cad82cbf416576b49fb92583d500be7fae819412eaabb82e7e2eeffbf56cc08","b0b40150672d9aa6ef94b064d4af8826a7ea7974afff0ddedf89fc77eb9a95ac","fc76ae3eb879d17145ce9afee192f3753e6f8eaf588d442ab1b2c998beef9bf3"],"recordQualifiers":{},"scopeLabel":"OMIM:614569","sourceIds":["OMIM:614569"],"sourceScope":"This column retains the native source entry. It is not a pooled estimate for the umbrella condition."},{"gene":"","key":"MONDO:0013808/ORPHA:163634","label":"Maffucci syndrome","mondoId":"MONDO:0013808","onsetQualifier":null,"recordKeys":["00cbbbdd55047f96ae313a16109469f98a927bd54da0edeb4b63cd0de1a093c5","0d3a95ae436567fd4f06e84f605ca5379ebd63fc4eecf2c36a4621670c23653a","214d3ce63dc1053c130e4930e47a4b81baa42c1f97de4ef32a42603ecacae95f","22dc3efe9e0a2f7ae94233697dc4dc003adcee011fe4a136fd23fb3905197c50","296e3d198b9aa7be641130dc21f753408a3e8ec6f19d36852e001d7dc86860d7","2e8a78598e54d780a9e0371881b3a013384ed05c467f82ddada9e4acec57f77b","328f9328a1f43fd35621ec0cec841bf31effd002512b9e9606435eecd60a0d68","4da21cea2ee076e17b369424ddee0b353f998bf6c3a6dc0719a900e668fb19f4","4e9a65e407b35b2858f7402823158bbbae1ffb5681593288f0d9f17fa7e7aa39","514dc8b6e0b8deac51a5e178603834821f5c0461dccd6172f599de52ff4ffbd7","5ef3a9d78793a8b90a743ec8c2723977ca4a9f503283666a8bef1886e108ed6c","6109eccd7e37db3d8b25dfd918f3ea4cec4a63ea34a4c07c4e40bbc6e886c0d8","615137422d14d41935f657857aebc2a4c5ea40041f38b6a8fa6d1d10a96d17d4","63c8f4b0a8e71e04163a2d046cf1166f0632a52e4af131073a7acaccff54f8d8","8419a629e1dc07fc7619bd1ce00466c8166ba95442de42d8772db47998d974c1","908a8aea8aa3c50ad5af59434fa27b7619a15a1f273206de893585172e778de3","9572ee456fe5c84281f023d5cc1dc811526b14006ace54b28a4ca85beac19367","99f991a80cd0847cc5d558433e9ed34fdaad9eb80a28ff02dc19691b13b3c0e6","a3a0ada28ec9beb4be5798c02b838fa398f595dc4fd1b55877a8df2905118919","b8019b1bf273bbca68bfb7d0710f04a9eadb517a114d08944f528f5ab9ad7ef0","bfbbef3c3c5242cb58b574dddb64ba6f16c1fcb05bb5d56f891071eb737c08f3","c13a597011095da51e97b449a753ccef07639eb83b1d711a361fc468ed00f2ef","e3c12566687aaaf2c2981a550f0b544aed5c9266a11cf9eb118a7949e2d147c0","ee68872da386342d9f4ecd074eb9e45d34636f83923f67b8d26c3b47a495ff3a"],"recordQualifiers":{},"scopeLabel":"ORPHA:163634","sourceIds":["ORPHA:163634"],"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:0013808/OMIM:614569","MONDO:0013808/ORPHA:163634"],"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":0,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":28,"sourceGroups":{"omim":0,"orphanet":24,"published":4}},"features":[{"hpoId":"HP:0009592","label":"Astrocytoma","primary":false},{"hpoId":"HP:0002653","label":"Bone pain","primary":false},{"hpoId":"HP:0003002","label":"Breast carcinoma","primary":false},{"hpoId":"HP:0100021","label":"Cerebral palsy","primary":false},{"hpoId":"HP:0006765","label":"Chondrosarcoma","primary":false},{"hpoId":"HP:0006824","label":"Cranial nerve paralysis","primary":false},{"hpoId":"HP:0002015","label":"Dysphagia","primary":false},{"hpoId":"HP:0100777","label":"Exostoses","primary":false},{"hpoId":"HP:0000853","label":"Goiter","primary":false},{"hpoId":"HP:0001510","label":"Growth delay","primary":false},{"hpoId":"HP:0001028","label":"Hemangioma","primary":false},{"hpoId":"HP:0007461","label":"Hemangiomatosis","primary":false},{"hpoId":"HP:0005701","label":"Multiple enchondromatosis","primary":false},{"hpoId":"HP:0100641","label":"Neoplasm of the adrenal cortex","primary":false},{"hpoId":"HP:0100733","label":"Neoplasm of the parathyroid gland","primary":false},{"hpoId":"HP:0002797","label":"Osteolysis","primary":false},{"hpoId":"HP:0100615","label":"Ovarian neoplasm","primary":false},{"hpoId":"HP:0002897","label":"Parathyroid adenoma","primary":false},{"hpoId":"HP:0002756","label":"Pathologic fracture","primary":false},{"hpoId":"HP:0002893","label":"Pituitary adenoma","primary":false},{"hpoId":"HP:0002757","label":"Recurrent fractures","primary":false},{"hpoId":"HP:0100242","label":"Sarcoma","primary":false},{"hpoId":"HP:0002650","label":"Scoliosis","primary":false},{"hpoId":"HP:0004322","label":"Short stature","primary":false},{"hpoId":"HP:0001482","label":"Subcutaneous nodule","primary":false},{"hpoId":"HP:0004936","label":"Venous thrombosis","primary":false}],"ledeHtml":"Maffucci syndrome is a disorder that primarily affects the bones and skin. It is characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.","mondoId":"MONDO:0013808","records":[{"frequencyKind":"range","key":"00cbbbdd55047f96ae313a16109469f98a927bd54da0edeb4b63cd0de1a093c5","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002653","is_excluded":false,"label":"Bone pain","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"0d3a95ae436567fd4f06e84f605ca5379ebd63fc4eecf2c36a4621670c23653a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002757","is_excluded":false,"label":"Recurrent fractures","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"1495a6e8c42f5b5018fc79b87c83f8dacf107659ef217fbb7f2db478192ce8cc","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:614569","disease_name":"Multiple enchondromatosis, Maffucci type","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0001028","is_excluded":false,"label":"Hemangioma","onset_id":null,"reference":"PMID:8408836","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"214d3ce63dc1053c130e4930e47a4b81baa42c1f97de4ef32a42603ecacae95f","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0003002","is_excluded":false,"label":"Breast carcinoma","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"22dc3efe9e0a2f7ae94233697dc4dc003adcee011fe4a136fd23fb3905197c50","raw":{"aspect":"P","body_system":"skin","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001482","is_excluded":false,"label":"Subcutaneous nodule","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"296e3d198b9aa7be641130dc21f753408a3e8ec6f19d36852e001d7dc86860d7","raw":{"aspect":"P","body_system":"blood","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0004936","is_excluded":false,"label":"Venous thrombosis","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"2e8a78598e54d780a9e0371881b3a013384ed05c467f82ddada9e4acec57f77b","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0005701","is_excluded":false,"label":"Multiple enchondromatosis","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"328f9328a1f43fd35621ec0cec841bf31effd002512b9e9606435eecd60a0d68","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0004322","is_excluded":false,"label":"Short stature","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"4cad82cbf416576b49fb92583d500be7fae819412eaabb82e7e2eeffbf56cc08","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:614569","disease_name":"Multiple enchondromatosis, Maffucci type","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002756","is_excluded":false,"label":"Pathologic fracture","onset_id":null,"reference":"PMID:8408836","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"4da21cea2ee076e17b369424ddee0b353f998bf6c3a6dc0719a900e668fb19f4","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0000853","is_excluded":false,"label":"Goiter","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"4e9a65e407b35b2858f7402823158bbbae1ffb5681593288f0d9f17fa7e7aa39","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002897","is_excluded":false,"label":"Parathyroid adenoma","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"514dc8b6e0b8deac51a5e178603834821f5c0461dccd6172f599de52ff4ffbd7","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0007461","is_excluded":false,"label":"Hemangiomatosis","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"5ef3a9d78793a8b90a743ec8c2723977ca4a9f503283666a8bef1886e108ed6c","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100641","is_excluded":false,"label":"Neoplasm of the adrenal cortex","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"6109eccd7e37db3d8b25dfd918f3ea4cec4a63ea34a4c07c4e40bbc6e886c0d8","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0002650","is_excluded":false,"label":"Scoliosis","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"615137422d14d41935f657857aebc2a4c5ea40041f38b6a8fa6d1d10a96d17d4","raw":{"aspect":"P","body_system":"growth","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0001510","is_excluded":false,"label":"Growth delay","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"63c8f4b0a8e71e04163a2d046cf1166f0632a52e4af131073a7acaccff54f8d8","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002015","is_excluded":false,"label":"Dysphagia","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"8419a629e1dc07fc7619bd1ce00466c8166ba95442de42d8772db47998d974c1","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0002893","is_excluded":false,"label":"Pituitary adenoma","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"908a8aea8aa3c50ad5af59434fa27b7619a15a1f273206de893585172e778de3","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0100777","is_excluded":false,"label":"Exostoses","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"9572ee456fe5c84281f023d5cc1dc811526b14006ace54b28a4ca85beac19367","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100242","is_excluded":false,"label":"Sarcoma","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"99f991a80cd0847cc5d558433e9ed34fdaad9eb80a28ff02dc19691b13b3c0e6","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006824","is_excluded":false,"label":"Cranial nerve paralysis","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"a3a0ada28ec9beb4be5798c02b838fa398f595dc4fd1b55877a8df2905118919","raw":{"aspect":"P","body_system":"genitourinary","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100615","is_excluded":false,"label":"Ovarian neoplasm","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"reported","key":"b0b40150672d9aa6ef94b064d4af8826a7ea7974afff0ddedf89fc77eb9a95ac","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:614569","disease_name":"Multiple enchondromatosis, Maffucci type","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0005701","is_excluded":false,"label":"Multiple enchondromatosis","onset_id":null,"reference":"PMID:8408836","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"range","key":"b8019b1bf273bbca68bfb7d0710f04a9eadb517a114d08944f528f5ab9ad7ef0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0009592","is_excluded":false,"label":"Astrocytoma","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"bfbbef3c3c5242cb58b574dddb64ba6f16c1fcb05bb5d56f891071eb737c08f3","raw":{"aspect":"P","body_system":"endocrine","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100733","is_excluded":false,"label":"Neoplasm of the parathyroid gland","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"c13a597011095da51e97b449a753ccef07639eb83b1d711a361fc468ed00f2ef","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0006765","is_excluded":false,"label":"Chondrosarcoma","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"e3c12566687aaaf2c2981a550f0b544aed5c9266a11cf9eb118a7949e2d147c0","raw":{"aspect":"P","body_system":"nervous_system","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040283","hpo_id":"HP:0100021","is_excluded":false,"label":"Cerebral palsy","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"range","key":"ee68872da386342d9f4ecd074eb9e45d34636f83923f67b8d26c3b47a495ff3a","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"ORPHA:163634","disease_name":"Maffucci syndrome","evidence":"TAS","frequency_raw":"HP:0040281","hpo_id":"HP:0002797","is_excluded":false,"label":"Osteolysis","onset_id":null,"reference":"ORPHA:163634","source_release":"2026-06-23"},"sourceGroups":["orphanet"]},{"frequencyKind":"percentage","key":"fc76ae3eb879d17145ce9afee192f3753e6f8eaf588d442ab1b2c998beef9bf3","raw":{"aspect":"P","body_system":"neoplasm","disease_id":"OMIM:614569","disease_name":"Multiple enchondromatosis, Maffucci type","evidence":"PCS","frequency_raw":"30%","hpo_id":"HP:0006765","is_excluded":false,"label":"Chondrosarcoma","onset_id":null,"reference":"PMID:8408836","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/maffucci-syndrome\">Maffucci 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>Genetic changes that contribute to disease are called pathogenic variants. Pathogenic variants in the IDH1 or IDH2 gene can cause Maffucci syndrome. These genes provide instructions for making enzymes called isocitrate dehydrogenases, which help convert a compound called isocitrate into another compound called 2-oxoglutarate. This process also produces a molecule called NADPH, which is necessary for many cellular activities.</p><p>The variants in the IDH1 or IDH2 gene that are associated with Maffucci syndrome are somatic, which means that they are acquired during a person’s lifetime and are present only in certain cells. These somatic variants generally occur during early embryonic development. In people with Maffucci syndrome, the somatic variants are typically found within the cells that make up the affected tissues, including the enchondromas and vascular lesions. However, the relationship between these variants and the specific features of Maffucci syndrome is not well understood.</p><p>Somatic variants in other genes may account for some cases of Maffucci syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/maffucci-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Maffucci syndrome?"},{"bodyHtml":"<p>The signs and symptoms of Maffucci syndrome may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood. As a result of the bone deformities associated with Maffucci syndrome, people with this disorder generally have short stature and underdeveloped muscles.</p><p>Maffucci syndrome is distinguished from a similar disorder that involves enchondromas (Ollier disease) by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas). In addition to hemangiomas, individuals with Maffucci syndrome occasionally also have lymphangiomas, which are masses made up of the thin tubes that carry lymph fluid (lymphatic vessels). These growths may appear anywhere on the body.</p><p>Although the enchondromas associated with Maffucci syndrome start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Maffucci syndrome also have an increased risk of other cancers, such as ovarian or liver cancer.</p><p>People with Maffucci syndrome usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment depends on their individual skeletal deformities, but in most cases they have no major limitations in their activities.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/maffucci-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"maffucci-syndrome","sourceDocuments":[{"name":"Maffucci syndrome","reviewed":"2016-02","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:02.778529+00:00","label":"Causes","pageSha256":"2cc72b98bad59115e3125b180047b3e495f3bb21c28914d3c3f79a741b809d17","sourceUrl":"https://medlineplus.gov/genetics/condition/maffucci-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/maffucci-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":"Maffucci syndrome"},"schemaVersion":1}