SCARF syndrome
MONDO:0010728Mondo
Findings
No curated finding names SCARF syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome characterized by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.
Definition from the Mondo Disease Ontology (MONDO:0010728), read 2026-09-29. CC BY 4.0.
Features
32 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 vertebral body morphologyHPOHP:0003312
- Frequent (30% to 79% of cases)
- Bifid scrotumHPOHP:0000048
- Frequent (30% to 79% of cases)
- Coarse facial featuresHPOHP:0000280
- Frequent (30% to 79% of cases)
- CraniosynostosisHPOHP:0001363
- Frequent (30% to 79% of cases)
- CryptorchidismHPOHP:0000028
- Frequent (30% to 79% of cases)
- Cutis laxaHPOHP:0000973
- Frequent (30% to 79% of cases)
- Diastasis rectiHPOHP:0001540
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- Enamel hypoplasiaHPOHP:0006297
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Hepatocellular adenomaHPOHP:0012028
- Frequent (30% to 79% of cases)
- Hypocalcification of dental enamelHPOHP:0011084
- Frequent (30% to 79% of cases)
Show the remaining 20
- Inguinal herniaHPOHP:0000023
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- Long philtrumHPOHP:0000343
- Frequent (30% to 79% of cases)
- Low posterior hairlineHPOHP:0002162
- Frequent (30% to 79% of cases)
- MicropenisHPOHP:0000054
- Frequent (30% to 79% of cases)
- Mild intellectual disabilityHPOHP:0001256
- Frequent (30% to 79% of cases)
Where it sits
- A kind of