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contracture","onset_id":null,"reference":"OMIM:305620","source_release":"2026-06-23"},"sourceGroups":["omim"]},{"frequencyKind":"count","key":"fd24954cad2c3768b22f0ae9d36f86ad62da941de147b505a1d499cab3ed9056","raw":{"aspect":"P","body_system":"musculoskeletal","disease_id":"OMIM:305620","disease_name":"Frontometaphyseal dysplasia","evidence":"PCS","frequency_raw":"11/11","hpo_id":"HP:0009004","is_excluded":false,"label":"Hypoplasia of the musculature","onset_id":null,"reference":"PMID:16835913","source_release":"2026-06-23"},"sourceGroups":["published"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/frontometaphyseal-dysplasia\">Frontometaphyseal dysplasia</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Variants (also called mutations) in the FLNA gene cause frontometaphyseal dysplasia type 1. Variants in the MAP3K7 gene cause frontometaphyseal dysplasia type 2, and TAB2 gene variants cause type 3.</p><p>The FLNA gene provides instructions for producing the protein filamin A, which helps build the network of protein filaments (cytoskeleton) that gives structure to cells and allows them to change shape and move. Filamin A binds to another protein called actin, and helps the actin form the branching network of filaments that make up the cytoskeleton. Filamin A also links actin to many other proteins to perform various functions within the cell.</p><p>Variants in the FLNA gene have been identified in people with frontometaphyseal dysplasia. These mutations are described as &quot;gain-of-function&quot; because they appear to enhance the activity of the filamin A protein or give the protein a new, atypical function. Researchers think that the mutations may change the way the filamin A protein helps regulate processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of frontometaphyseal dysplasia.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/frontometaphyseal-dysplasia/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Frontometaphyseal dysplasia?"},{"bodyHtml":"<p>Frontometaphyseal dysplasia is distinguished from the other otopalatodigital spectrum disorders by the presence of joint deformities called contractures that restrict the movement of certain joints. People with frontometaphyseal dysplasia may also have bowed limbs, an abnormal curvature of the spine (scoliosis), and abnormalities of the fingers and hands.</p><p>Characteristic facial features may include prominent brow ridges; wide-set and downward-slanting eyes; a very small lower jaw and chin (micrognathia); and small, missing, or misaligned teeth. Some affected individuals have hearing loss.</p><p>In addition to skeletal abnormalities, individuals with frontometaphyseal dysplasia may have obstruction of the ducts between the kidneys and bladder (ureters), heart defects, or constrictions in the passages leading from the windpipe to the lungs (the bronchi) that can cause problems with breathing.</p><p>There are three types of frontometaphyseal dysplasia, known as type 1, type 2, and type 3. The three types differ in their genetic cause and the way they are inherited.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/frontometaphyseal-dysplasia\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"frontometaphyseal-dysplasia","sourceDocuments":[{"name":"Frontometaphyseal dysplasia","reviewed":"2022-06","sections":{"causes":{"fetchedAt":"2026-10-20T20:21:37.977418+00:00","label":"Causes","pageSha256":"ad157b73e6a40c45661b0d815eae68d788f2aea137a54a2be65c6c012daf573a","sourceUrl":"https://medlineplus.gov/genetics/condition/frontometaphyseal-dysplasia/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/frontometaphyseal-dysplasia"}],"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":"Frontometaphyseal dysplasia"},"schemaVersion":1}