atelosteogenesis type II (neonatal osseous dysplasia I)

Genetics

• associated with defects in SLC26A2

Clinical manifestations

• skeletal anomalies
  • severely shortened limbs (micromelia)
  • small chest
  • scoliosis
  • kyphosis
  • club foot of the equinovarus type (talipes equinovarus)
  • abducted thumbs & great toes
  • cleft palate
• cardiac anomalies
  • patent foramen ovale
  • patent ductus arteriosus
• respiratory insufficiency
  • laryngeal_stenosis
  • tracheobronchomalacia
  • pulmonary hypoplasia
  • apnea

Complications

• patients die of respiratory insufficiency shortly after birth because of the collapse of the airways & pulmonary hypoplasia due to the small rib cage

More general terms

• developmental bone disorder
• genetic syndrome (multisystem disorder)
• genetic disease of bone/skeletal system

Database

• OMIM: https://mirror.omim.org/entry/256050