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. [ Orphanet:1532 ]

This is just here as a test because I lose it

Term information

database cross reference
  • MESH:C537285 (MONDO:equivalentTo)
  • SCTID:722451006 (MONDO:equivalentTo)
  • Orphanet:1532 (OMIM:601853)
  • ICD10:Q07.8 (Orphanet:1532)
  • OMIM:601853 (Orphanet:1532)
  • GARD:0000229 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_malformation_syndrome

closeMatch

http://linkedlifedata.com/resource/umls/id/C0795959

definition

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.

exactMatch

http://identifiers.org/snomedct/722451006

http://identifiers.org/omim/601853

http://identifiers.org/mesh/C537285

http://www.orpha.net/ORDO/Orphanet_1532

has exact synonym

Cerebellotrigeminal-dermal dysplasia syndrome

Gomez-Lopez-Hernandez syndrome

craniosynostosis-alopecia-brain defect syndrome

has related synonym

GLHS

Gomez-Lopez-Hernández syndrome

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

seeAlso

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