Mesomelic dwarfism-cleft palate-camptodactyly syndrome
ORPHA:2631· ICD-10 Q78.8
Definition
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. Fatal course due to cardiorespiratory arrest has also been reported. There have been no further descriptions in the literature since 1993.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal