GTR Home > Conditions/Phenotypes > Atelosteogenesis type 2

Disease characteristics

Excerpted from the GeneReview: Atelosteogenesis Type 2
Clinical features of atelosteogenesis type 2 (AO2) include rhizomelic limb shortening with normal-sized skull, hitchhiker thumbs, small chest, protuberant abdomen, cleft palate, and distinctive facial features (midfaceretrusion, depressed nasal bridge, epicanthus, micrognathia). Other typical findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot. AO2 is lethal at birth or shortly thereafter because of pulmonary hypoplasia and tracheobronchomalacia.

Available tests

6 tests are in the database for this condition. Compare labs offering these tests.

Check Associated genes and Related conditions for additional relevant tests.

Associated genes

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

Clinical features

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  • Short neck
  • Cervical kyphosis
  • Respiratory insufficiency
  • Flat acetabular roof
  • Talipes equinovarus
  • Horizontal sacrum
  • Midface retrusion
  • Pulmonary hypoplasia
  • Coronal cleft vertebrae
  • Malar flattening
  • Small sacroiliac notches
  • Platyspondyly
  • Micrognathia
  • Cleft palate
  • Sandal gap
  • Abnormality of metabolism/homeostasis
  • Scoliosis
  • Lumbar hyperlordosis
  • Micromelia
  • Thoracic hypoplasia
  • Depressed nasal bridge
  • Short middle phalanx of finger
  • Dumbbell-shaped femur
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