acromesomelic dysplasia 4
MONDO:0030553Mondo
Findings
No curated finding names acromesomelic dysplasia 4 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
- Childhood onset
HPO, annotations 2026-09-02
Features
41 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.
- Broad fingerHPOHP:0001500
- 1 of 1 reported patient
- Broad phalanxHPOHP:0006009
- 2 of 2 reported patients
- Broad toeHPOHP:0001837
- 1 of 1 reported patient
- Chronic constipationHPOHP:0012450
- 1 of 1 reported patient
- HypertrichosisHPOHP:0000998
- 1 of 1 reported patient
- Mandibular prognathiaHPOHP:0000303
- 1 of 1 reported patient
- PlatyspondylyHPOHP:0000926
- 3 of 3 reported patients
- RhizomeliaHPOHP:0008905
- 1 of 1 reported patient
- Short fingerHPOHP:0009381
- 3 of 3 reported patients
- Short metacarpalHPOHP:0010049
- 1 of 1 reported patient
- Short metatarsalHPOHP:0010743
- 1 of 1 reported patient
- Short phalanx of fingerHPOHP:0009803
- 2 of 2 reported patients
Show the remaining 29
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Short toeHPOHP:0001831
- 1 of 1 reported patient
- Thick eyebrowHPOHP:0000574
- 1 of 1 reported patient
- Umbilical herniaHPOHP:0001537
- 1 of 1 reported patient
- SynophrysHPOHP:0000664
- 2 of 3 reported patients
- Wide nasal bridgeHPOHP:0000431
- 2 of 3 reported patients
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.
- PRKG2HGNC:9416
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: acromesomelic dysplasia 4
- Also called
- AMD4