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head","onset_id":null,"reference":"OMIM:311300","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-1\">Otopalatodigital syndrome type 1</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Otopalatodigital syndrome type 1 is caused by mutations in the FLNA gene. 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 attaches (binds) to another protein called actin, and helps the actin to 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>The FLNA gene mutations that cause otopalatodigital syndrome type 1 result in changes to the filamin A protein in the region that binds to actin. The mutations are described as &quot;gain-of-function&quot; because they appear to lead to a protein with an increased ability to bind to actin. Researchers believe that the mutations impair the stability of the cytoskeleton and disrupt cellular processes involved in skeletal development, but it is not known how changes in the protein relate to the specific signs and symptoms of otopalatodigital syndrome type 1.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-1/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Otopalatodigital syndrome type 1?"},{"bodyHtml":"<p>Otopalatodigital syndrome type 1 is usually the mildest of the otopalatodigital spectrum disorders. People with this condition usually have characteristic facial features including wide-set and downward-slanting eyes; prominent brow ridges; and a broad, flat nose. Affected individuals have abnormalities of the fingers and toes, such as blunt, square-shaped (spatulate) fingertips; shortened thumbs and big toes; unusually long second toes; and a wide gap between the first and second toes (known as a sandal gap). Affected individuals also have hearing loss.</p><p>Infants with otopalatodigital syndrome type 1 may be born with an opening in the roof of the mouth (a cleft palate). Individuals with this condition often have fewer teeth than normal (hypodontia). They may have mild abnormal curvature (bowing) of their limbs, and limited range of motion in some joints. People with otopalatodigital syndrome type 1 may be somewhat shorter than other members of their family.</p><p>Females with otopalatodigital syndrome type 1 often have more variable signs and symptoms compared to affected males, with females typically having fewer signs and symptoms.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-1\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"otopalatodigital-syndrome-type-1","sourceDocuments":[{"name":"Otopalatodigital syndrome type 1","reviewed":"2007-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:59.625700+00:00","label":"Causes","pageSha256":"146f36dcc6bbf5d7b76a37c270b0e0a419dcf42acf2b2ce3b9417cee44f515b8","sourceUrl":"https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-1/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-1"}],"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":"Otopalatodigital syndrome type 1"},"schemaVersion":1}