5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).
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