Cerebrocostomandibular syndrome

Orpha code: 1393OMIM code: 117650

Definition

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.

Disease data
Classification

Malformation syndrome

ORPHA code
1393
OMIM code
117650
ICD10 code
Q87.8
ICD11 code
LD24.H

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl