Autosomal recessive
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.
Signs and symptoms
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.
What a diagnosis changes
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.
Genes analysed
Includes 2 related subtypes ↓Hide subtypes ↑
- orofaciodigital syndrome 17
- short-rib thoracic dysplasia 20 with polydactyly
MONDO:1060154Sources: [2][3][1]
