Achondrogenesis Clinical Presentation

Updated: Jun 26, 2013
  • Author: Harold Chen, MD, MS, FAAP, FACMG; Chief Editor: Bruce Buehler, MD  more...
  • Print
Presentation

History

Prenatal history in patients with achondrogenesis may include the following:

Next:

Physical

Achondrogenesis type I

See the list below:

  • Growth - Lethal neonatal dwarfism, mean birth weight of 1200 g
  • Craniofacial - Disproportionately large head; soft skull; sloping forehead; convex facial plane; flat nasal bridge, occasionally associated with a deep horizontal groove; small nose, often with anteverted nostrils; long philtrum; retrognathia; increased distance between lower lip and lower edge of chin; double chin appearance (often)
  • Neck - Extremely short
  • Thorax - Short and barrel-shaped thorax, lung hypoplasia
  • Abdomen - Protuberant
  • Limbs - Extremely short (micromelia), much shorter than type II; flipper-like appendages

Achondrogenesis type II

See the list below:

  • Growth - Lethal neonatal dwarfism, mean birth weight of 2100 g
  • Craniofacial - Disproportionately large head, large and prominent forehead, flat facial plane, flat nasal bridge, small nose with severely anteverted nostrils, normal philtrum (often), micrognathia
  • Neck - Extremely short
  • Thorax - Short and flared thorax, bell-shaped cage, lung hypoplasia
  • Abdomen - Protuberant
  • Limbs - Extremely short (micromelia)
Previous
Next:

Causes

See the list below:

  • Type IA is an autosomal recessive disorder with an unknown chromosomal locus. In the current International Nomenclature of Constitutional Disorders of Bone, type IA is classified under spondylodysplastic and other perinatally lethal groups of osteochondrodysplasias.
  • Type IB is an autosomal recessive disorder resulting from mutations of the diastrophic dysplasia sulfate transporter (DDST) gene ( SLC26A2), which is located at 5q32-q33.
  • Type II is an autosomal dominant type II collagenopathy resulting from mutations in the COL2A1 gene, which is located at 12q13.1-q13.3.
Previous