acrodysostosis 2 with or without hormone resistance
Findings
No curated finding names acrodysostosis 2 with or without hormone resistance yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any acrodysostosis in which the cause of the disease is a mutation in the PDE4D gene.
Definition from the Mondo Disease Ontology (MONDO:0013822), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
13 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.
- BrachydactylyHPOHP:0001156
- 4 of 4 reported patients
- Cone-shaped epiphysisHPOHP:0010579
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Short metacarpalHPOHP:0010049
- 4 of 4 reported patients
- Short metatarsalHPOHP:0010743
Show the remaining 1
- Advanced ossification of carpal bonesHPOHP:0004233
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.
- PDE4DHGNC:8783
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
- A kind of
Other names
3 names
Resolves to: acrodysostosis 2 with or without hormone resistance
- Also called
- acrodysostosis 2, with or without hormone resistanceacrodysostosis caused by mutation in PDE4DPDE4D acrodysostosis