craniofacial conodysplasia
MONDO:0019406Mondo
Findings
No curated finding names craniofacial conodysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Craniofacial conodysplasia is characterized by craniofacial dysplasia, cone-shaped physes of the hands and feet, and neurological manifestations resembling cerebral palsy. It has been described in one family. The syndrome appeared to be transmitted as a dominant trait.
Definition from the Mondo Disease Ontology (MONDO:0019406), read 2026-09-29. CC BY 4.0.
Features
5 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.
- Abnormality of the faceHPOHP:0000271
- Very frequent (80% to 99% of cases)
- Cone-shaped epiphyses of the phalanges of the handHPOHP:0010230
- Very frequent (80% to 99% of cases)
- Craniofacial dysostosisHPOHP:0004439
- Very frequent (80% to 99% of cases)
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- Spinal cord compressionHPOHP:0002176
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of