Heart defect B round face B congenital developmental delay is very rare syndrome described in three sibs of one Japanese family and characterized by congenital heart disease, round face with depressed nasal bridge, small mouth, short stature, and relatively dark skin and typical dermatoglyphic anomalies, and intellectual deficit.
Comprehensive, easy-to-understand information about this condition
Checking for content...
Neu-Laxova syndrome
MONDO:0000179
acrofacial dysostosis, Catania type
MONDO:0007045
aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
MONDO:0007143
blepharonasofacial malformation syndrome
MONDO:0007200
brachydactyly-nystagmus-cerebellar ataxia syndrome
MONDO:0007226
craniofaciofrontodigital syndrome
MONDO:0007259