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Condition report · Musculoskeletal

Achondrogenesis

A genetic test for mutations associated with Achondrogenesis, a severe skeletal dysplasia.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Achondrogenesis

Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.

Genes analysed

Includes 5 related subtypes ↓
  • achondrogenesis type IA
  • achondrogenesis type IB
  • achondrogenesis type II
  • acromesomelic dysplasia 2A
  • hypochondrogenesis
MONDO:0019648Orphanet 932MedGen 84

Other musculoskeletal conditions

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One test. A lifetime of answers.

One kit, sent to your home. Your entire genome sequenced at the clinical standard used for diagnostic decisions. Physician-ready reports delivered to your Genome Manager in 6–8 weeks — permanent and updated as science advances.

From $449

Free shipping · Results in 6–8 weeks

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