Autozomálně recesivní
Caused by changes in both copies of the INTU gene, which is part of the CPLANE complex needed to build primary cilia. Only a small number of families have been reported.
Příznaky a projevy
Features reported include extra fingers or toes, a short, narrow chest from short ribs, and oral differences such as extra gum tissue (frenula) or tongue differences. Less often there are brain or kidney differences; severity varies between families.
Co se diagnózou změní
Care is tailored to the features present, including orthopaedic and dental care and checks of other organs such as the heart and kidneys. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing can be offered.
Analyzované geny
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- orofaciodigital syndrome 17
- short-rib thoracic dysplasia 20 with polydactyly
MONDO:1060154Zdroje: [2][3][1]
