Gomez-Lopez-Hernandez syndrome
Lopez-Hernandez 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 behaviour and bipolar disorder have also been reported. [ ]
Term info
Gomez-Lopez-Hernandez syndrome
- Cerebellotrigeminal-dermal dysplasia syndrome
- Gomez-Lopez-Hernandez syndrome
- craniosynostosis-alopecia-brain defect syndrome
gard_rare, ordo_malformation_syndrome
http://purl.obolibrary.org/obo/Orphanet_1532, http://identifiers.org/snomedct/722451006, https://omim.org/entry/601853, http://identifiers.org/mesh/C537285
Gomez-Lopez-Hernández syndrome, GLHS, Cerebellotrigeminal-dermal dysplasia, Cerebellotrigeminal dermal dysplasia cerebello-trigeminal-dermal dysplasia, Gómez-López-Hernández syndrome, Cerebellotrigeminal dermal dysplasia, Gomez Lopez Hernandez syndrome, GOMEZ-LOPEZ-HERNANDEZ syndrome
MONDO:0011157
https://icd.codes/icd10cm/Q07.8
https://rarediseases.info.nih.gov/diseases/229/gomez-lopez-hernandez-syndrome