"New" ectodermal dysplasia with mental retardation and syndactyly.
We describe a girl with an unusual form of ectodermal dysplasia. She was mildly mentally retarded, had normal height, weight, and head circumference, a large scalp defect, a peculiar face with large palpebral fissures, a broad nasal bridge and constantly open mouth, abnormally-modeled ears, syndactyly of fingers/toes, mild hypohidrosis, and severe onychogryposis. Her hair was short, abundant, and stiff, her eyebrows were sparse, and her skin was dry. Analysis of the literature showed that this type of association of ectodermal dysplasia and other defects has not been previously described.
Institute for Hereditary Diseases, Minsk, Belarus.
H G
HG
Ilyina
D S
DS
Amoashy
H A
HA
Grygory
D000015:Abnormalities, Multiple; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000145:classification; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D010641:Phenotype; D013576:Syndactyly; D014071:Tooth Abnormalities