WebPubMed WebDiastrophic dysplasia is a disorder of cartilage and bone development that is estimated to affect about one in 100,000 newborns. Diastrophic dysplasia occurs in all populations but appears to be particularly common in Finland. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain ...

Diastrophic Dysplasia, Skeletal Dysplasia - Nemours

WebDiastrophic Dysplasia. Diastrophic dysplasia, also called diastrophic dwarfism, causes bone and joint abnormalities. It does not typically affect intelligence or mental function. Individuals with diastrophic dysplasia have very short arms and legs (short stature, typically between 3.2 and 4.6 feet), although their skulls are often normally sized. WebDec 3, 2024 · Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized head, hitchhiker thumbs, spinal deformities (scoliosis, exaggerated lumbar lordosis, cervical kyphosis), and contractures of the large joints with deformities and early-onset osteoarthritis. Other typical findings are ulnar deviation of the fingers, gap between the ... charles bridges of auburndale ma

Diastrophic Help - Jen

WebFeb 25, 2004 · Diastrophic dysplasia is a rare autosomal recessive inherited disorder characterized by micromelia, cleft palate, abnormal ears, xyphoscoliosis, limited joint mobility, talipes, varus deformity of the great toes and distinctive abduction of the first metacarpals (‘hitchhiker’ thumbs) 1, 2.It is thought to arise from mutations in the … WebDiastrophic dysplasia is a disorder of cartilage and bone development. Affected individuals have short stature with very short arms and legs. Most also have early-onset joint pain ( … charles brightwell