achondrogenesis type II
Findings
No curated finding names achondrogenesis type II yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby 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.
Definition from the Mondo Disease Ontology (MONDO:0008702), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Second trimester onset
HPO, annotations 2026-09-02
Features
36 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormally large globeHPOHP:0001090
- 1 of 1 reported patient
- BrachycephalyHPOHP:0000248
- 1 of 1 reported patient
- Delayed tibial epiphyseal ossificationHPOHP:6000867
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
- Long philtrumHPOHP:0000343
- 1 of 1 reported patient
- MicroretrognathiaHPOHP:0000308
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- COL2A1HGNC:2200
- Definitive · ClinGen · Autosomal dominant · 2020
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Ambry Genetics · Autosomal dominant · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: achondrogenesis type II
- Also called
- achondrogenesis, Langer-Saldino typeachondrogenesis, type II or hypochondrogenesis