An autosomal dominant syndrome of short stature with mesomelic shortness of limbs, abnormal carpal and tarsal bones, hypoplastic middle phalanges, and bipartite calcanei.
This paper describes seven persons in a family affected with an autosomal dominant syndrome of short stature with mesomelic shortness of upper and lower limbs, abnormal carpal and tarsal bones, hypoplastic or absent middle phalanges of hands and feet, and delayed coalescence of bipartite calcanei. All affected relatives are of normal intelligence, are free of eye problems, and have a normal skull, spine, shoulders, and hips. The digits of the hands and feet are short, broad, and angulated. The hypoplastic or absent middle phalanges effectively result in one interphalangeal joint for each digit, with decreased mobility. The bones of the carpus and tarsus coalesce with increasing age. None of the previously described syndromes or brachydactylies encompasses the findings noted in this kindred.
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D005532:Foot Deformities, Congenital; D005799:Genes, Dominant; D006130:Growth Disorders / Q000000981:diagnostic imaging / Q000235:genetics*; D006228:Hand Deformities, Congenital; D006801:Humans; D017880:Limb Deformities, Congenital; D010375:Pedigree; D011859:Radiography; D013577:Syndrome