faciodigitogenital syndrome
MONDO:0021005Mondo
Findings
No curated finding names faciodigitogenital syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature. This includes X-linked, AR and AD forms of Aarskog syndrome.
Definition from the Mondo Disease Ontology (MONDO:0021005), read 2026-09-29. CC BY 4.0.
Features
49 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 footHPOHP:0001769
- Very frequent (80% to 99% of cases)
- Broad palmHPOHP:0001169
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Everted lower lip vermilionHPOHP:0000232
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Shawl scrotumHPOHP:0000049
- Very frequent (80% to 99% of cases)
- Short footHPOHP:0001773
- Very frequent (80% to 99% of cases)
- Short palmHPOHP:0004279
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
- Small handHPOHP:0200055
- Very frequent (80% to 99% of cases)
- Umbilical herniaHPOHP:0001537
- Very frequent (80% to 99% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Frequent (30% to 79% of cases)
Show the remaining 37
- Anteverted naresHPOHP:0000463
- Frequent (30% to 79% of cases)
- Broad foreheadHPOHP:0000337
- Frequent (30% to 79% of cases)
- Clinodactyly of the 5th fingerHPOHP:0004209
- Frequent (30% to 79% of cases)
- Cognitive impairmentHPOHP:0100543
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: faciodigitogenital syndrome
- Also called
- Aarskog Syndrome