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Digitotalar dysmorphism; ulnar drift, hereditary

MedGen UID:
342156
Concept ID:
C1852085
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:
68543
Concept ID:
C0231679
Finding
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:
66821
Concept ID:
C0240912
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:
461427
Concept ID:
C3150077
Finding
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:
98041
Concept ID:
C0409348
Finding
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

Etiology

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

Diagnosis

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

Prognosis

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

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