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It is not a pooled estimate for the umbrella condition."}],"comparison":{"collapseColumnsLabel":"Show initial comparisons","defaultColumnKeys":["MONDO:0010571/OMIM:304120","MONDO:0010571/ORPHA:90652"],"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":19,"emptyColumnKeys":[],"hpoRelease":"2026-06-23","narrativeSourceChanges":[],"records":123,"sourceGroups":{"omim":49,"orphanet":55,"published":19}},"features":[{"hpoId":"HP:0001671","label":"Abnormal cardiac septum morphology","primary":false},{"hpoId":"HP:0001654","label":"Abnormal heart valve morphology","primary":false},{"hpoId":"HP:0005916","label":"Abnormal metacarpal morphology","primary":false},{"hpoId":"HP:0000377","label":"Abnormal pinna morphology","primary":false},{"hpoId":"HP:0000772","label":"Abnormal rib morphology","primary":false},{"hpoId":"HP:0005640","label":"Abnormal vertebral segmentation and fusion","primary":false},{"hpoId":"HP:0000674","label":"Anodontia","primary":false},{"hpoId":"HP:0001631","label":"Atrial septal defect","primary":false},{"hpoId":"HP:0006487","label":"Bowing of the long bones","primary":false},{"hpoId":"HP:0000283","label":"Broad 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It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, frontometaphyseal dysplasia, Melnick-Needles syndrome, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and skeletal abnormalities involving the fingers or toes (digits). 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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Otopalatodigital syndrome type 2 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 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 2 all 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 2.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-2/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Otopalatodigital syndrome type 2?"},{"bodyHtml":"<p>People with otopalatodigital syndrome type 2 have characteristic facial features including wide-set and downward-slanting eyes; prominent brow ridges; a broad, flat nose; and a very small lower jaw and chin (micrognathia). Affected individuals often have abnormalities of the fingers and toes, such as unusual curvature of the fingers (camptodactyly) and shortened or absent thumbs and big toes. People with otopalatodigital syndrome type 2 usually have short stature, abnormally curved (bowed) bones in the arms and legs, and other abnormal or absent bones. Underdeveloped ribs can cause problems with breathing in affected individuals. Some people with this condition have an opening in the roof of the mouth (a cleft palate) or hearing loss.</p><p>In addition to skeletal abnormalities, individuals with otopalatodigital syndrome type 2 may have developmental delay, increased fluid in the center of the brain (hydrocephalus), protrusion of the abdominal organs through the navel (omphalocele), heart defects, chest abnormalities, obstruction of the ducts between the kidneys and bladder (ureters), and, in males, opening of the urethra on the underside of the penis (hypospadias).</p><p>Males with otopalatodigital syndrome type 2 generally have much more severe signs and symptoms compared to affected females. Males with this condition typically do not survive past infancy because of respiratory failure due to an underdeveloped rib cage.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-2\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"otopalatodigital-syndrome-type-2","sourceDocuments":[{"name":"Otopalatodigital syndrome type 2","reviewed":"2007-11","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:59.956919+00:00","label":"Causes","pageSha256":"89095ea685d3664f0fb48e90d2a2b2d5bac7ef2a7bfbd39cb9f18ea11c12145d","sourceUrl":"https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-2/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/otopalatodigital-syndrome-type-2"}],"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 2"},"schemaVersion":1}