acrofrontofacionasal dysostosis 2
MONDO:0009402Mondo
Findings
No curated finding names acrofrontofacionasal dysostosis 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies.
Definition from the Mondo Disease Ontology (MONDO:0009402), read 2026-09-29. CC BY 4.0.
Features
34 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.
- Abnormal penis morphologyHPOHP:0000036
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Delayed cranial suture closureHPOHP:0000270
- Very frequent (80% to 99% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Very frequent (80% to 99% of cases)
- EpispadiasHPOHP:0000039
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- Flat occiputHPOHP:0005469
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- HypospadiasHPOHP:0000047
- Very frequent (80% to 99% of cases)
- Large fontanellesHPOHP:0000239
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Very frequent (80% to 99% of cases)
Show the remaining 22
- Preaxial hand polydactylyHPOHP:0001177
- Very frequent (80% to 99% of cases)
- Shawl scrotumHPOHP:0000049
- Very frequent (80% to 99% of cases)
- Wide nasal bridgeHPOHP:0000431
- Very frequent (80% to 99% of cases)
- Bifid scrotumHPOHP:0000048
- Frequent (30% to 79% of cases)
- Broad foreheadHPOHP:0000337
- Frequent (30% to 79% of cases)
- Broad hallux phalanxHPOHP:0010059
- Frequent (30% to 79% of cases)
Where it sits
Other names
4 names
Resolves to: acrofrontofacionasal dysostosis 2
- Also called
- acrofrontofacionasal dysostosis type 2acrofrontofacionasal syndrome type 2hypertelorism-hypospadias-polysyndactyly syndromeNaguib-Richieri-Costa syndrome