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GENATLAS PHENOTYPE

last update : 30-05-2018

Symbol	SHHS2
Location	9p13.3
Name	Sheldon-Hall syndrome 2
Other name(s)	Arthrogryposis, distal, type 2B Freeman-Sheldon syndrome variant
Corresponding gene	TPM2
Other symbol(s)	DA2B, FSSV
Main clinical features	distal arthrogryposis is a clinically and genetically heterogeneous disorder characterized by clenched fist, overlapping fingers, camptodactyly, ulnar deviation, and positional foot deformities from birth; disorder of primary limb malformation without primary neurologic or muscle disease affected individuals tend to have more prominent nasolabial folds, downslanting palpebral fissures, and a small mouth, associated to ulnar deviation, camptodactyly, overlapping fingers and scoliosis from birth
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)