GLHS
MCID: GMZ002
MIFTS: 30

Gomez-Lopez-Hernandez Syndrome (GLHS)

Categories: Fetal diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Gomez-Lopez-Hernandez Syndrome

MalaCards integrated aliases for Gomez-Lopez-Hernandez Syndrome:

Name: Gomez-Lopez-Hernandez Syndrome 56 58
Craniosynostosis-Alopecia-Brain Defect Syndrome 52 58
Cerebellotrigeminal-Dermal Dysplasia Syndrome 52 58
Gomez Lopez Hernandez Syndrome 52 71
Cerebellotrigeminal Dermal Dysplasia Cerebello-Trigeminal-Dermal Dysplasia 56
Cerebellotrigeminal Dermal Dysplasia 52
Cerebellotrigeminal-Dermal Dysplasia 52
Gomez and López-Hernández Syndrome 74
Gomez-Lopez-Hernández Syndrome 52
Glhs 56

Characteristics:

Orphanet epidemiological data:

58
gomez-lopez-hernandez syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
isolated cases


HPO:

31
gomez-lopez-hernandez syndrome:
Inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Gomez-Lopez-Hernandez Syndrome

NIH Rare Diseases : 52 Gomez Lopez Hernandez syndrome (GLHS) is a rare condition characterized by partial scalp baldness (alopecia ); numbness of the face, eyes, sinuses, and mouth (trigeminal anesthesia); and a brain abnormality called rhombencephalosynapsis . Additional symptoms vary but may include distinctive facial features, intellectual disability or other neurological problems, and craniofacial abnormalities . The cause of GLHS is poorly understood. It may be genetic, possibly with autosomal recessive inheritance. Treatment depends on the signs and symptoms present in each person.

MalaCards based summary : Gomez-Lopez-Hernandez Syndrome, also known as craniosynostosis-alopecia-brain defect syndrome, is related to alopecia and rhombencephalosynapsis, and has symptoms including seizures and ataxia. Affiliated tissues include brain, eye and cerebellum, and related phenotypes are low-set ears and ataxia

OMIM : 56 Gomez-Lopez-Hernandez syndrome, also known as cerebellotrigeminal dermal dysplasia, is a rare neurocutaneous syndrome classically characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, often giving rise to corneal opacities, and bilateral parietal or parietooccipital alopecia, However, trigeminal anesthesia is an inconsistent finding (summary by Sukhudyan et al., 2010). (601853)

Wikipedia : 74 Gomez-Lopez-Hernandez syndrome (GLH) or cerebellotrigeminal-dermal dysplasia is a rare neurocutaneous... more...

Related Diseases for Gomez-Lopez-Hernandez Syndrome

Diseases related to Gomez-Lopez-Hernandez Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 25)
# Related Disease Score Top Affiliating Genes
1 alopecia 11.1
2 rhombencephalosynapsis 11.1
3 hypertelorism 10.9
4 craniosynostosis 10.8
5 strabismus 10.7
6 ataxia and polyneuropathy, adult-onset 10.7
7 mechanical strabismus 10.7
8 hypotonia 10.7
9 lipomatosis, multiple 10.6
10 autism 10.6
11 hydrocephalus, congenital, 1 10.6
12 alopecia, congenital 10.6
13 major affective disorder 8 10.6
14 major affective disorder 9 10.6
15 alacrima, achalasia, and mental retardation syndrome 10.6
16 autism spectrum disorder 10.6
17 apraxia 10.6
18 pleomorphic lipoma 10.6
19 esophageal atresia 10.6
20 hydrocephalus 10.6
21 synostosis 10.6
22 bipolar disorder 10.6
23 cerebellar hypoplasia 10.6
24 growth hormone deficiency 10.6
25 isolated oxycephaly 10.6

Graphical network of the top 20 diseases related to Gomez-Lopez-Hernandez Syndrome:



Diseases related to Gomez-Lopez-Hernandez Syndrome

Symptoms & Phenotypes for Gomez-Lopez-Hernandez Syndrome

Human phenotypes related to Gomez-Lopez-Hernandez Syndrome:

58 31 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
2 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
3 hydrocephalus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000238
4 corneal opacity 58 31 hallmark (90%) Very frequent (99-80%) HP:0007957
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 intellectual disability, moderate 58 31 hallmark (90%) Very frequent (99-80%) HP:0002342
7 cognitive impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0100543
8 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
9 brachycephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000248
10 cerebellar vermis hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001320
11 abnormality of brainstem morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0002363
12 impaired pain sensation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007328
13 turricephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000262
14 alopecia of scalp 58 31 hallmark (90%) Very frequent (99-80%) HP:0002293
15 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
16 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
17 visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000505
18 mask-like facies 58 31 frequent (33%) Frequent (79-30%) HP:0000298
19 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
20 thin vermilion border 58 31 frequent (33%) Frequent (79-30%) HP:0000233
21 toenail dysplasia 58 31 frequent (33%) Frequent (79-30%) HP:0100797
22 malar flattening 31 HP:0000272
23 seizures 31 HP:0001250
24 hyperreflexia 31 HP:0001347
25 depressivity 31 HP:0000716
26 high palate 31 HP:0000218
27 self-injurious behavior 31 HP:0100716
28 short nose 31 HP:0003196
29 craniosynostosis 31 HP:0001363
30 alopecia 31 HP:0001596
31 smooth philtrum 31 HP:0000319
32 hypertonia 31 HP:0001276
33 hyperactivity 31 HP:0000752
34 generalized hypotonia 31 HP:0001290
35 opacification of the corneal stroma 31 HP:0007759
36 strabismus 31 HP:0000486
37 wormian bones 31 HP:0002645
38 posteriorly rotated ears 31 HP:0000358
39 agenesis of cerebellar vermis 31 HP:0002335
40 bipolar affective disorder 31 HP:0007302
41 growth hormone deficiency 31 HP:0000824
42 wide anterior fontanel 31 HP:0000260
43 abnormal cerebellum morphology 58 Very frequent (99-80%)
44 fusion of the cerebellar hemispheres 31 HP:0006899
45 skull asymmetry 31 HP:0002678
46 trigeminal anesthesia 31 HP:0031912
47 rhombencephalosynapsis 31 HP:0031913

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
strabismus
corneal opacities
absent corneal reflexes

Neurologic Central Nervous System:
seizures
hyperreflexia
ataxia
fusion of the cerebellar hemispheres
trigeminal anesthesia
more
Growth Height:
short stature

Head And Neck Face:
smooth philtrum
midface hypoplasia

Head And Neck Head:
brachycephaly
turricephaly
wide anterior fontanelle

Skin Nails Hair Hair:
parieto-occipital alopecia

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Neurologic Behavioral Psychiatric Manifestations:
self-injurious behavior
hyperactivity
depression
bipolar disorder

Skeletal Skull:
craniosynostosis
wormian bones
skull asymmetry
overlapping sutures

Head And Neck Nose:
anteverted nares
small nose

Head And Neck Mouth:
high-arched palate
thin lips

Endocrine Features:
growth hormone deficiency (reported in 1 patient)

Clinical features from OMIM:

601853

UMLS symptoms related to Gomez-Lopez-Hernandez Syndrome:


seizures, ataxia

Drugs & Therapeutics for Gomez-Lopez-Hernandez Syndrome

Search Clinical Trials , NIH Clinical Center for Gomez-Lopez-Hernandez Syndrome

Genetic Tests for Gomez-Lopez-Hernandez Syndrome

Anatomical Context for Gomez-Lopez-Hernandez Syndrome

MalaCards organs/tissues related to Gomez-Lopez-Hernandez Syndrome:

40
Brain, Eye, Cerebellum, Skin, Bone, Pons

Publications for Gomez-Lopez-Hernandez Syndrome

Articles related to Gomez-Lopez-Hernandez Syndrome:

(show all 23)
# Title Authors PMID Year
1
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. 61 56
23292994 2013
2
Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature. 61 56
16158443 2005
3
Gomez-Lopez-Hernandez syndrome: expansion of the phenotype. 61 56
11050627 2000
4
Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria. 56
20652311 2010
5
Two new Brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights. 56
18247421 2008
6
Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndrome. 56
17159510 2007
7
Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse. 56
15503243 2004
8
Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases. 56
7133329 1982
9
Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome. 56
95427 1979
10
Gómez-López-Hernández Syndrome: A Rare Cause of Bilateral Nonscarring Alopecia. 52
26391554 2015
11
Genetic evaluation including exome sequencing of two patients with Gomez-Lopez-Hernandez syndrome: Case reports and review of the literature. 61
32003537 2020
12
Mystery Case: Bilateral alopecia as clue to diagnosis of Gomez-Lopez-Hernandez syndrome in a 38-year-old man. 61
31451588 2019
13
Unsolved recognizable patterns of human malformation: Challenges and opportunities. 61
30580485 2018
14
Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature. 61
30181940 2018
15
PERIOPERATIVE CARE OF AN INFANT WITH GOMEZ-LOPEZ-HERNANDEZ SYNDROME. 61
27487646 2016
16
Anaesthesia and orphan disease: anaesthesia for Gomez-Lopez-Hernandez syndrome. 61
25226063 2015
17
Orbital bands in Gomez-Lopez-Hernandez syndrome. 61
23143464 2012
18
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. 61
19057916 2009
19
Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature. 61
19068257 2009
20
Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis. 61
18342593 2008
21
Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature. 61
17483961 2008
22
Gomez-Lopez-Hernandez syndrome: another consideration in focal congenital alopecia. 61
17489973 2007
23
Gomez-Lopez-Hernandez syndrome. 61
16607507 2006

Variations for Gomez-Lopez-Hernandez Syndrome

Expression for Gomez-Lopez-Hernandez Syndrome

Search GEO for disease gene expression data for Gomez-Lopez-Hernandez Syndrome.

Pathways for Gomez-Lopez-Hernandez Syndrome

GO Terms for Gomez-Lopez-Hernandez Syndrome

Sources for Gomez-Lopez-Hernandez Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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