Gomez-Lopez-Hernandez syndrome
Findings
No curated finding names Gomez-Lopez-Hernandez syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndrome, which may be classified among the neurocutaneous syndromes, associates abnormalities of the cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia). It has been reported in 11 individuals so far. Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment and ataxia. Hyperactivity, depression, self-injurious behavior and bipolar disorder have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0011157), 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.
- AlopeciaHPOHP:0001596
- 56 of 56 reported patients
- RhombencephalosynapsisHPOHP:0031913
- 55 of 56 reported patients · Antenatal onset
- Malar flatteningHPOHP:0000272
- 41 of 44 reported patients
- Low-set earsHPOHP:0000369
- 38 of 41 reported patients · Congenital onset
- Very frequent (80% to 99% of cases)
- BrachycephalyHPOHP:0000248
- 41 of 46 reported patients
- Very frequent (80% to 99% of cases)
- Abnormal brainstem morphologyHPOHP:0002363
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Downslanted palpebral fissuresHPOHP:0000494
- 20 of 25 reported patients
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- Impaired pain sensationHPOHP:0007328
- Very frequent (80% to 99% of cases)
- Midface retrusionHPOHP:0011800
- Very frequent (80% to 99% of cases)
- Moderate intellectual disabilityHPOHP:0002342
- Very frequent (80% to 99% of cases)
- Short statureHPOHP:0004322
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
2 names
Resolves to: Gomez-Lopez-Hernandez syndrome
- Also called
- Cerebellotrigeminal-dermal dysplasia syndromecraniosynostosis-alopecia-brain defect syndrome