Short fourth metacarpal bone.

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).

Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

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