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Digitotalar dysmorphism; ulnar drift, hereditary

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Hereditary ulnar drift
Related genes: TPM2, MYBPC1
Monarch Initiative: MONDO:0007458
OMIM®: 126050

Clinical features

From HPO
Ulnar deviation of finger
MedGen UID:
Concept ID:
Bending or curvature of a finger toward the ulnar side (i.e., away from the thumb). The deviation is at the metacarpal-phalangeal joint, and this finding is distinct from clinodactyly.
Congenital vertical talus
MedGen UID:
Concept ID:
Congenital Abnormality
Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006).
Mild short stature
MedGen UID:
Concept ID:
A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.
Camptodactyly of finger
MedGen UID:
Concept ID:
The distal interphalangeal joint and/or the proximal interphalangeal joint of the fingers cannot be extended to 180 degrees by either active or passive extension.

Recent clinical studies


Hamanishi C
J Pediatr Orthop 1984 May;4(3):318-26. PMID: 6736236


Vorster AA, Beighton P, Ramesar RS
S Afr Med J 2016 Feb 2;106(3):253-5. doi: 10.7196/SAMJ.2016.v106i3.10134. PMID: 26915936
Gericke GS, Hall JG, Nelson MM, Beighton PH
Clin Genet 1984 Feb;25(2):155-62. PMID: 6538466


Gericke GS, Hall JG, Nelson MM, Beighton PH
Clin Genet 1984 Feb;25(2):155-62. PMID: 6538466

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