acrocardiofacial syndrome
MONDO:0010890Mondo
Findings
No curated finding names acrocardiofacial syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0010890), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
36 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.
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- Split handHPOHP:0001171
- Very frequent (80% to 99% of cases)
- Abnormal metacarpal morphologyHPOHP:0005916
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Frequent (30% to 79% of cases)
Show the remaining 24
- HypospadiasHPOHP:0000047
- Frequent (30% to 79% of cases)
- Intrauterine growth retardationHPOHP:0001511
- Frequent (30% to 79% of cases)
- Long eyelashesHPOHP:0000527
- Frequent (30% to 79% of cases)
- Split footHPOHP:0001839
- Frequent (30% to 79% of cases)
- Wide nasal bridgeHPOHP:0000431
- Frequent (30% to 79% of cases)
- Anal atresiaHPOHP:0002023
- Occasional (5% to 29% of cases)
Where it sits
Other names
3 names
Resolves to: acrocardiofacial syndrome
- Also called
- ACFSCCGE syndromecleft palate-cardiac defect-genital anomalies-ectrodactyly syndrome