Цереброкостомандибулярний синдром
ORPHA:1393· ICD-10 Q87.8· Cerebrocostomandibular syndrome
Визначення(English summary)
Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal dominant, Autosomal recessive, Not applicable
- Вік початку
- Antenatal, Neonatal