Achondrogenesis type II

Achondrogenesis type II Relevant markers:

Flat faceFlat nasal bridgeHypomineralizationHypoplastic noseHypoplastic thoracic cageMicrognathia/retrognathiaProminent foreheadSevere micromeliaShort neckNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPolyhydramniosHydrops

Parents markers:

Hypomineralization of vertebral body

Incidence:

- — 1/40000

Male — Female Ratio:

1 — 1

Involved genes:
(gene — definition — chromosome)

COL2A1 — 12q13.11

Inheritance mode:

AD, Sporadic (new mutation)

Other online databases:

OrphaNet, OMIM, Geneva Foundation

Links:

emedicine.medscape.com, www.ncbi.nlm.nih.gov

References:

1999	Ultrasound Obstet Gynecol	Case report	Read on PubMed
2004	Am J Med Genet A	Case report	Read on PubMed
2007	Am J Med Genet A	Case report	Read on PubMed
2009	Ultrasound Obstet Gynecol	Case series	Read on PubMed