20q11.2 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by psychomotor delay, hypotonia, feeding difficulties, failure to thrive, anomalies of the hands and feet (clinodactyly, camptodactyly, brachydactyly, feet malposition), and craniofacial dysmorphism. Associated prenatal growth retardation, and gastrointestinal, heart and eye anomalies have been reported.
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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