Diseases title

Ulna hypoplasia - intellectual deficit )

Chrom mut
Orpha Number: 2249
Synonym(s):

Ulna hypoplasia - intellectual deficit is a very rare syndrome characterized by mesomelic shortness of the forearms, bilateral clubfeet, aplasia or hypoplasia of all nails and severe psychomotor retardation.It has been reported in two sibs.The family is suggestive of autosomal recessive inheritance.Prognosis is poor.
source: Orphanet