acroosteolysis dominant type
Findings
No curated finding names acroosteolysis dominant type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare genetic osteolysis syndrome resulting from protein-truncating variants in exon 34 of the NOTCH2 gene. These variants disrupt only the PEST domain, escape nonsense-mediated decay, and are postulated to function through a gain-of-function mechanism. This condition is characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. Hearing loss, renal cysts, and cardiovascular anomalies are variably present.
Definition from the Mondo Disease Ontology (MONDO:0007057), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
95 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.
- Conductive hearing impairmentHPOHP:0000405
- 9 of 9 reported patients
- HypertelorismHPOHP:0000316
- 9 of 9 reported patients
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- 9 of 9 reported patients
- Occasional (5% to 29% of cases)
- Malar flatteningHPOHP:0000272
- 9 of 9 reported patients
- Narrow mouthHPOHP:0000160
- 9 of 9 reported patients
- Frequent (30% to 79% of cases)
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.
- NOTCH2HGNC:7882
- Definitive · ClinGen · Autosomal dominant · 2025
- Definitive · G2P · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
10 names
Resolves to: acroosteolysis dominant type
- Also called
- acrodentoosteodysplasiaacroosteolysis with osteoporosis and changes in skull and mandibleArthrodentoosteodysplasiaCheney syndromeHajdu Cheney SyndromeHajdu-Cheney syndromeHajdu-Cheney syndrome-NOTCH2serpentine fibula polycystic kidney syndromeserpentine fibula-polycystic kidney syndromeserpentine fibula-polycystic kidneys syndrome