Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.

Diminished length of a metatarsal bone, with resultant proximal displacement of the associated toe.

Brachydactyly type E comprises one or more shortened metacarpals and metatarsals (summary by Johnson et al., 2003). Another form of brachydactyly type E, BDE2 (613382), is caused by heterozygous mutation in the PTHLH gene (168470) on chromosome 12p11. Also see the hypertension and brachydactyly syndrome (112410).

A moderate degree of short stature, more than -3 SD but not more than -4 SD from mean corrected for age and sex.

Reduced length of the clavicles.

An abnormally straight configuration of the clavicle, a tubular bone which normally is doubly curved .

The facial appearance is more circular than usual as viewed from the front.

The presence of multiple impacted teeth.