GTR Home > Conditions/Phenotypes > Diastrophic dysplasia

Disease characteristics

Excerpted from the GeneReview: Diastrophic Dysplasia
Diastrophic dysplasia (DTD) is characterized by limb shortening, normal-sized skull, 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 first and second toes, and clubfoot. On occasion the disease can be lethal at birth, but most affected individuals survive the neonatal period and develop physical limitations with normal intelligence.

Associated genes

  • Also known as: D5S1708, DTD, DTDST, EDM4, MST153, MSTP157, SLC26A2
    Summary: solute carrier family 26 (anion exchanger), member 2

Clinical features

  • Ulnar deviation of finger
  • Short finger
  • Cerebral calcification
  • Cervical kyphosis
  • Respiratory insufficiency
  • Hearing impairment
  • Talipes equinovarus
  • Kyphosis
  • Irregular epiphyses
  • Blue sclerae
  • Intrauterine growth retardation
  • Short long bones
  • Bowing of the long bones
  • Costal cartilage calcification
  • Glabellar hemangioma
  • Hypertrophic auricular cartilage
  • Hypoplastic cervical vertebrae
  • Hitchhiker thumb
  • Low-set, posteriorly rotated ears
  • Flattened epiphyses
  • Malar flattening
  • Proximal placement of thumb
  • Recurrent respiratory infections
  • Full cheeks
  • Micrognathia
  • Cleft palate
  • Macrocephaly
  • Cryptorchidism
  • Hypertelorism
  • Overfolded helix
  • Abnormality of the ribs
  • Abnormality of the clavicles
  • Abnormality of the metaphyses
  • Hyperextensible skin
  • Brachydactyly syndrome
  • Abnormality of the metacarpal bones
  • Muscular hypotonia
  • Joint dislocation
  • Limitation of joint mobility
  • Joint hypermobility
  • Hoarse voice
  • Spinal cord compression
  • Scoliosis
  • Kyphoscoliosis
  • Micromelia
  • Elbow dislocation
  • Abnormality of the hip bone
  • Hip contracture
  • Abnormal form of the vertebral bodies
  • Laryngotracheal stenosis
  • Depressed nasal bridge
  • Disproportionate short-limb short stature
  • Neonatal short-limb short stature
  • Large earlobe
  • Symphalangism affecting the phalanges of the hand
  • Cystic lesions of the pinnae
  • Increased bone mineral density
  • Camptodactyly of finger
  • Visceral angiomatosis
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