Unknown syndrome: nasal hypoplasia, sparse hair, truncal obesity, genital hypoplasia, and severe mental retardation.
A 4 year old girl is described with severe mental retardation, peculiar face with nasal hypoplasia, sparse hair, genital hypoplasia, truncal obesity, puffy hands, and small feet with complete cutaneous syndactyly of the second and third toes.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven, Belgium.
Delooz
J
J
Van Den Berghe
H
H
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006197:Hair / Q000002:abnormalities; D006801:Humans; D008607:Intellectual Disability; D009666:Nose / Q000002:abnormalities; D013577:Syndrome; D014034:Toes / Q000002:abnormalities