craniofaciofrontodigital syndrome
Findings
No curated finding names craniofaciofrontodigital syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Craniofaciofrontodigital is a rare multiple congenital anomalies syndrome characterized by mild intellectual disability, short stature, cardiac anomalies, mild dysmorphic features (macrocephaly, prominent forehead, hypertelorism, exophthalmos), cutis laxa, joint hyperlaxity, wrinkled palms and soles and skeletal anomalies (sella turcica, wide ribs and small vertebral bodies).
Definition from the Mondo Disease Ontology (MONDO:0007259), read 2026-09-29. CC BY 4.0.
Features
69 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.
- Coarse facial featuresHPOHP:0000280
- Very frequent (80% to 99% of cases)
- Congenital, generalized hypertrichosisHPOHP:0004540
- Very frequent (80% to 99% of cases)
- HypertrichosisHPOHP:0000998
- Very frequent (80% to 99% of cases)
- Thick hairHPOHP:0100874
- Very frequent (80% to 99% of cases)
- CardiomegalyHPOHP:0001640
- Frequent (30% to 79% of cases)
- Cutis laxaHPOHP:0000973
- Frequent (30% to 79% of cases)
- Depressed nasal bridge
Show the remaining 57
- HeadacheHPOHP:0002315
- Frequent (30% to 79% of cases)
- Hyperintensity of cerebral white matter on MRIHPOHP:0030890
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Joint hypermobilityHPOHP:0001382
- Frequent (30% to 79% of cases)
- Long philtrumHPOHP:0000343
- Frequent (30% to 79% of cases)
- MigraineHPOHP:0002076
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: craniofaciofrontodigital syndrome
- Also called
- Cantu craniofaciofrontodigital syndrome