craniofacial dyssynostosis
Findings
No curated finding names craniofacial dyssynostosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Craniofacial dyssynostosis (CFD) is a rare cranial malformation syndrome characterized by the premature closure of both lambdoid sutures and the posterior sagittal suture, resulting in abnormal skull contour (frontal bossing, anterior turricephaly with mild brachycephaly, biparietal narrowing, occipital concavity) and dysmorphic facial features (low-set ears, midfacial hypoplasia). Short stature, developmental delay, epilepsy, and oculomotor dyspraxia have also been reported. Associated anomalies include enlargement of the cerebral ventricles, agenesis of the corpus callosum, Arnold-Chiari malformation type I, venous anomalies of skull and hydrocephalus.
Definition from the Mondo Disease Ontology (MONDO:0009034), read 2026-09-29. CC BY 4.0.
Features
29 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.
- CraniosynostosisHPOHP:0001363
- Very frequent (80% to 99% of cases)
- DolichocephalyHPOHP:0000268
- Very frequent (80% to 99% of cases)
- Frontal bossingHPOHP:0002007
- Very frequent (80% to 99% of cases)
- HypertelorismHPOHP:0000316
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- Very frequent (80% to 99% of cases)
- MacrocephalyHPOHP:0000256
- Very frequent (80% to 99% of cases)
- Severe global developmental delay
Show the remaining 17
- Short philtrumHPOHP:0000322
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Stenosis of the external auditory canalHPOHP:0000402
- Frequent (30% to 79% of cases)
- StrabismusHPOHP:0000486
- Frequent (30% to 79% of cases)
- Umbilical herniaHPOHP:0001537
- Frequent (30% to 79% of cases)
- Underdeveloped nasal alaeHPOHP:0000430
- Frequent (30% to 79% of cases)