Terminology Service for NFDI4Health

Gomez-Lopez-Hernandez syndrome

Go to external page http://purl.obolibrary.org/obo/MONDO_0011157


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

Label

Gomez-Lopez-Hernandez syndrome

Synonyms
  • Cerebellotrigeminal-dermal dysplasia syndrome
  • Gomez-Lopez-Hernandez syndrome
  • craniosynostosis-alopecia-brain defect syndrome
database cross reference
Subsets

gard_rare, ordo_malformation_syndrome

exactMatch

http://purl.obolibrary.org/obo/Orphanet_1532, http://identifiers.org/snomedct/722451006, https://omim.org/entry/601853, http://identifiers.org/mesh/C537285

has related synonym

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

id

MONDO:0011157

narrowMatch

https://icd.codes/icd10cm/Q07.8

see also

https://rarediseases.info.nih.gov/diseases/229/gomez-lopez-hernandez-syndrome