Camptodactyly of fingers

Camptodactyly of fingers is a rare, genetic, non-syndromic, congenital limb malformation disorder characterized by a painless, non-traumatic, non-neurogenic, often bilateral, permanent flexion contracture at the proximal interphalangeal joint of a postaxial finger, resulting in permanent volar inclination of the affected digit. The fifth finger is always involved, but additional digits might also be affected.

Downslanted palpebral fissures

The palpebral fissure inclination is more than two standard deviations below the mean.


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PMID (PMCID)
23678273
(3653094)
FEMALE Infant, Newborn
First Korean family with a mutation in TPM2 associated with Sheldon-Hall syndrome.
Ko JM, Choi IH, Baek GH, Kim KW.
J Korean Med Sci. 2013;28(5):780-3.
The affected mother and daughter manifested typical facial features of SHS including a triangular face with downslanting palpebral fissures, small mouth, high arched palate, and prominent nasolabial folds, and showed camptodactyly of fingers and deformities of feet with congenital vertical tali.