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GENATLAS PHENOTYPE

last update : 20-05-2015

Symbol	SHHS
Location	17p13.1
Name	Sheldon-Hall syndrome
Other name(s)	arthrogryposis multiplex congenita, distal, type 2B Freeman-Sheldon syndrome variant
Corresponding gene	MYH3
Other symbol(s)	DA2B, FSSV
Main clinical features	triangular face, downslanting palpebral fissures, attached earlobes, prominent nasolabial folds, small mouth, small mandible, arched palate, cervical webbing, short stature, severe camptodactyly, ulnar deviation, and vertical talus and/or talipes equinovarus
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)