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This condition develops in childhood, often between infancy and age 3, but can appear as late as age 12. Affected children have light-colored hair, described as blond or silvery with a glistening sheen. The hair does not grow downward but out from the scalp in multiple directions. Despite its appearance, the hair is not fragile or brittle, and it grows at a normal or slightly slower rate. Only scalp hair is affected in uncombable hair syndrome.","mondoId":"MONDO:0008621","records":[{"frequencyKind":"count","key":"070f042f8828e7c695808b51c4b6fde02d59bfafb5e3a105b6c3f60509f34a04","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:617252","disease_name":"Uncombable hair syndrome 3","evidence":"PCS","frequency_raw":"1/1","hpo_id":"HP:0030056","is_excluded":false,"label":"Uncombable hair","onset_id":null,"reference":"PMID:27866708","source_release":"2026-06-23"},"sourceGroups":["published"]},{"frequencyKind":"reported","key":"0f97fd95a4a0fa1e84c63ae92433d10109299ed718c95c2a9eeb2f6fc6a31f32","raw":{"aspect":"P","body_system":"skin","disease_id":"OMIM:617251","disease_name":"Uncombable hair syndrome 2","evidence":"PCS","frequency_raw":null,"hpo_id":"HP:0002235","is_excluded":false,"label":"Pili 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cataract","onset_id":null,"reference":"OMIM:617251","source_release":"2026-06-23"},"sourceGroups":["omim"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/uncombable-hair-syndrome\">Uncombable hair 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>Uncombable hair syndrome is caused by mutations in the PADI3, TGM3, or TCHH gene. These genes provide instructions for making proteins that help give structure to the hair strand (shaft).</p><p>The proteins produced from the PADI3 and TGM3 genes modify the protein produced from the TCHH gene, known as trichohyalin. The modified trichohyalin can attach (bind) to other trichohyalin proteins and to molecules called keratin intermediate filaments to create organized cross-links. These links form dense networks that provide structure to the hair shaft and give it a cylindrical shape.</p><p>PADI3, TGM3, or TCHH gene mutations likely lead to the production of proteins with little or no activity. As a result, the shape of the hair shaft is altered. Instead of having a cylindrical shape, it has a triangular, heart-like, or flat cross-section. Sometimes all of these irregular shapes can occur along the length of a single strand of hair. Because of the angular shape of the hair shaft, the hair will not lie flat. In children with uncombable hair syndrome, 50 to 100 percent of their strands of hair have an irregular shape. Additionally, the abnormal hair reflects light differently than normal hair, accounting for its glistening sheen.</p><p>Some people with uncombable hair syndrome do not have an identified mutation in one of these three genes. The cause of the condition in these individuals is unknown.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/uncombable-hair-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Uncombable hair syndrome?"},{"bodyHtml":"<p>For unknown reasons, this condition usually improves over time. By adolescence individuals with uncombable hair syndrome have hair that lies flat and has normal or nearly normal texture.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/uncombable-hair-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"uncombable-hair-syndrome","sourceDocuments":[{"name":"Uncombable hair syndrome","reviewed":"2017-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:39.496107+00:00","label":"Causes","pageSha256":"a9f20079feae6356bc7dc43cf4d1057583fa49eb744a5376de03ab2ea596b135","sourceUrl":"https://medlineplus.gov/genetics/condition/uncombable-hair-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/uncombable-hair-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":"Uncombable hair syndrome"},"schemaVersion":1}