craniodigital syndrome-intellectual disability syndrome
Findings
No curated finding names craniodigital syndrome-intellectual disability syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Craniodigital syndrome - intellectual deficit is characterized by syndactyly of the fingers and toes, characteristic facies (`startled' facial expression with a small pointed nose, micrognathia, long dark eyelashes and prominent eyebrows) and intellectual deficit.
Definition from the Mondo Disease Ontology (MONDO:0015463), read 2026-09-29. CC BY 4.0.
Features
14 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 dermatoglyphicsHPOHP:0007477
- Very frequent (80% to 99% of cases)
- Abnormal hair patternHPOHP:0010720
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- Very frequent (80% to 99% of cases)
- Finger syndactylyHPOHP:0006101
- Very frequent (80% to 99% of cases)
- Generalized hirsutismHPOHP:0002230
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Long eyelashes
Show the remaining 2
- Thick hairHPOHP:0100874
- Very frequent (80% to 99% of cases)
- Spina bifida occultaHPOHP:0003298
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: craniodigital syndrome-intellectual disability syndrome
- Also called
- Scott craniodigital syndromeScott-Bryant-Graham syndrome