Sotos syndrome

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

Camptodactyly

The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers or toes cannot be extended to 180 degrees by either active or passive extension.


合計: 2

                       


（表示件数）
PMID (PMCID)
21957350
(3168163)
 OTHER
Camptodactyly in Sotos syndrome.
Danda S, Mathew MC, Bain SM, Palnok S.
Indian J Hum Genet. 2007;13(2):73-5.
She has camptodactyly which has not previously been reported in Sotos syndrome but is a common finding in Weaver syndrome.
21957350
(3168163)
 OTHER
Camptodactyly in Sotos syndrome.
Danda S, Mathew MC, Bain SM, Palnok S.
Indian J Hum Genet. 2007;13(2):73-5.
Camptodactyly in Sotos syndrome.