acromesomelic dysplasia 3
MONDO:0012274Mondo
Findings
No curated finding names acromesomelic dysplasia 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
22 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.
- Aplasia of the proximal phalanx of the 2nd fingerHPOHP:0009596
- 1 of 1 reported patient
- Bilateral talipes equinovarusHPOHP:0001776
- 1 of 1 reported patient
- BrachydactylyHPOHP:0001156
- 1 of 1 reported patient
- Broad footHPOHP:0001769
- 1 of 1 reported patient
- Carpal synostosisHPOHP:0009702
- 1 of 1 reported patient
- Delayed skeletal maturationHPOHP:0002750
- 1 of 1 reported patient
- Disproportionate short-limb short statureHPOHP:0008873
- 1 of 1 reported patient
- Elevated circulating follicle stimulating hormone levelHPOHP:0008232
- 1 of 1 reported patient
- Elevated circulating luteinizing hormone levelHPOHP:0011969
- 1 of 1 reported patient
- Fibular aplasiaHPOHP:0002990
- 1 of 1 reported patient
- Hypergonadotropic hypogonadismHPOHP:0000815
- 1 of 1 reported patient
- Hypoplasia of the ulnaHPOHP:0003022
- 1 of 1 reported patient
Show the remaining 10
- Hypoplasia of the uterusHPOHP:0000013
- 1 of 1 reported patient
- Limb undergrowthHPOHP:0009826
- 1 of 1 reported patient
- Primary amenorrheaHPOHP:0000786
- 1 of 1 reported patient
- Radial deviation of fingerHPOHP:0009466
- 1 of 1 reported patient
- Short 1st metacarpalHPOHP:0010034
- 1 of 1 reported patient
- Short femoral neckHPOHP:0100864
- 1 of 1 reported patient
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.
- BMPR1BHGNC:1077
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Moderate · Ambry Genetics · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
3 names
Resolves to: acromesomelic dysplasia 3
- Also called
- acromesomelic dysplasia, Demirhan typeAMDDchondrodysplasia, acromesomelic, with or without genital anomalies