anauxetic dysplasia 1
MONDO:0054560Mondo
Findings
No curated finding names anauxetic dysplasia 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Second trimester onset
HPO, annotations 2026-09-02
Features
25 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.
- Aortic valve stenosisHPOHP:0001650
- 2 of 2 reported patients
- Barrel-shaped chestHPOHP:0001552
- 2 of 2 reported patients
- Delayed ossification of carpal bonesHPOHP:0001216
- 1 of 1 reported patient
- Elbow flexion contractureHPOHP:0002987
- 2 of 2 reported patients
- Flared metaphysisHPOHP:0003015
- 1 of 1 reported patient
- Lumbar hyperlordosisHPOHP:0002938
- 2 of 2 reported patients
- MacroglossiaHPOHP:0000158
- 2 of 2 reported patients
- MicrodontiaHPOHP:0000691
- 2 of 2 reported patients
- RhizomeliaHPOHP:0008905
- 2 of 2 reported patients
- Short footHPOHP:0001773
- 2 of 2 reported patients
- Short palmHPOHP:0004279
- 2 of 2 reported patients
- Thoracic kyphosisHPOHP:0002942
- 2 of 2 reported patients
Show the remaining 13
- Severe short statureHPOHP:0003510
- 3 of 4 reported patients
- Atlantoaxial dislocationHPOHP:0003414
- 1 of 2 reported patients
- Cervical cord compressionHPOHP:0002341
- 1 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 2 reported patients
- Hip contractureHPOHP:0003273
- 1 of 2 reported patients
- HypotoniaHPOHP:0001252
- 1 of 2 reported patients
Where it sits
- A kind of