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.
- Abnormality of limbs
- Abnormality of the musculoskeletal system
- Growth abnormality