Conditions / Syndrome
cranioectodermal dysplasia 3
info · Syndrome
A cranioectodermal dysplasia that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.
Signs and symptoms
- Rhizomelia
- Brachydactyly
- Short stature
- Narrow chest
- Broad nail
- Nephronophthisis
- Short nail
- Widely spaced teeth
- Scaphocephaly
- Stage 5 chronic kidney disease