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Start free with EleplanAchondrogenesis type 2
ORPHA:93296Clinical subtype
Also called Achondrogenesis, Langer-Saldino type
What it is
A rare, lethal type of achondrogenesis, and part of the spectrum of type 2 collagen-related bone disorders, characterized by severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage.
Key facts
- Age of onset
- Antenatal, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Clinical subtype
Recorded for the broader condition
- Prevalence
- 1-9 / 100 000 (at birth, France)Achondrogenesis
Orphanet records these for the broader condition rather than for this specific form. They are a starting point, not a figure for this subtype — subtypes often differ, and some are defined by being rarer than the condition they sit under.
Signs and symptoms
Common30–79%
16- Abnormality of the eye
- Absent vertebral body mineralization
- Delayed proximal femoral epiphyseal ossification
- Delayed pubic bone ossification
- Delayed vertebral ossification
- Edema
- Hypoplastic ilia
- Micromelia
- Midface retrusion
- Narrow chest
- Pierre-Robin sequence
- Pulmonary hypoplasia
- Short ribs
- Short stature
- Skeletal dysplasia
- Unossified sacrum
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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