GLHS
MCID: GMZ002
MIFTS: 29

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 57 59
Craniosynostosis-Alopecia-Brain Defect Syndrome 53 59
Cerebellotrigeminal-Dermal Dysplasia Syndrome 53 59
Gomez Lopez Hernandez Syndrome 53 72
Cerebellotrigeminal Dermal Dysplasia Cerebello-Trigeminal-Dermal Dysplasia 57
Cerebellotrigeminal Dermal Dysplasia 53
Cerebellotrigeminal-Dermal Dysplasia 53
Gomez and López-Hernández Syndrome 75
Gomez-Lopez-Hernández Syndrome 53
Glhs 57

Characteristics:

Orphanet epidemiological data:

59
gomez-lopez-hernandez syndrome
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
isolated cases


HPO:

32
gomez-lopez-hernandez syndrome:
Inheritance sporadic


Classifications:



External Ids:

OMIM 57 601853
ICD10 via Orphanet 34 Q07.8
UMLS via Orphanet 73 C0795959
Orphanet 59 ORPHA1532
MedGen 42 C0795959
UMLS 72 C0795959

Summaries for Gomez-Lopez-Hernandez Syndrome

NIH Rare Diseases : 53 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 hydrocephalus

OMIM : 57 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 : 75 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 27)
# Related Disease Score Top Affiliating Genes
1 alopecia 11.0
2 rhombencephalosynapsis 11.0
3 hypertelorism 10.8
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 10.5
10 tracheoesophageal fistula with or without esophageal atresia 10.5
11 autism 10.5
12 cerebellar hypoplasia 10.5
13 hydrocephalus, congenital, 1 10.5
14 alopecia, congenital 10.5
15 major affective disorder 8 10.5
16 major affective disorder 9 10.5
17 alacrima, achalasia, and mental retardation syndrome 10.5
18 autism spectrum disorder 10.5
19 apraxia 10.5
20 pleomorphic lipoma 10.5
21 esophageal atresia 10.5
22 hydrocephalus 10.5
23 synostosis 10.5
24 bipolar disorder 10.5
25 congenital hydrocephalus 10.5
26 growth hormone deficiency 10.5
27 isolated oxycephaly 10.5

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:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 low-set ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000369
2 hydrocephalus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000238
3 ataxia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001251
4 corneal opacity 59 32 hallmark (90%) Very frequent (99-80%) HP:0007957
5 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cognitive impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0100543
7 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
8 intellectual disability, moderate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002342
9 impaired pain sensation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007328
10 turricephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000262
11 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
12 abnormality of brainstem morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0002363
13 cerebellar vermis hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0001320
14 alopecia of scalp 59 32 hallmark (90%) Very frequent (99-80%) HP:0002293
15 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
16 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
17 visual impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000505
18 mask-like facies 59 32 frequent (33%) Frequent (79-30%) HP:0000298
19 telecanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000506
20 thin vermilion border 59 32 frequent (33%) Frequent (79-30%) HP:0000233
21 toenail dysplasia 59 32 frequent (33%) Frequent (79-30%) HP:0100797
22 malar flattening 32 HP:0000272
23 high palate 32 HP:0000218
24 depressivity 32 HP:0000716
25 seizures 32 HP:0001250
26 hyperreflexia 32 HP:0001347
27 self-injurious behavior 32 HP:0100716
28 short nose 32 HP:0003196
29 smooth philtrum 32 HP:0000319
30 hypertonia 32 HP:0001276
31 hyperactivity 32 HP:0000752
32 generalized hypotonia 32 HP:0001290
33 opacification of the corneal stroma 32 HP:0007759
34 strabismus 32 HP:0000486
35 wormian bones 32 HP:0002645
36 alopecia 32 HP:0001596
37 bipolar affective disorder 32 HP:0007302
38 wide anterior fontanel 32 HP:0000260
39 craniosynostosis 32 HP:0001363
40 abnormal cerebellum morphology 59 Very frequent (99-80%)
41 posteriorly rotated ears 32 HP:0000358
42 growth hormone deficiency 32 HP:0000824
43 agenesis of cerebellar vermis 32 HP:0002335
44 fusion of the cerebellar hemispheres 32 HP:0006899
45 skull asymmetry 32 HP:0002678
46 trigeminal anesthesia 32 HP:0031912
47 rhombencephalosynapsis 32 HP:0031913

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
strabismus
corneal opacities
absent corneal reflexes

Neurologic Central Nervous System:
seizures
ataxia
hyperreflexia
fusion of the cerebellar hemispheres
trigeminal anesthesia
more
Head And Neck Face:
smooth philtrum
midface hypoplasia

Growth Height:
short stature

Skeletal Skull:
wormian bones
craniosynostosis
skull asymmetry
overlapping sutures

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

Head And Neck Nose:
anteverted nares
small nose

Head And Neck Head:
brachycephaly
turricephaly
wide anterior fontanelle

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:

41
Brain, Eye, Cerebellum, Bone, Skin, Pons

Publications for Gomez-Lopez-Hernandez Syndrome

Articles related to Gomez-Lopez-Hernandez Syndrome:

(show all 21)
# Title Authors PMID Year
1
Four new patients with Gomez-Lopez-Hernandez syndrome and proposed diagnostic criteria. 38 8
23292994 2013
2
Prenatal magnetic resonance imaging in Gomez-Lopez-Hernandez syndrome and review of the literature. 38 8
16158443 2005
3
Gomez-Lopez-Hernandez syndrome: expansion of the phenotype. 38 8
11050627 2000
4
Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria. 8
20652311 2010
5
Two new Brazilian patients with Gómez-López-Hernández syndrome: reviewing the expanded phenotype with molecular insights. 8
18247421 2008
6
Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndrome. 8
17159510 2007
7
Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse. 8
15503243 2004
8
Craniosynostosis, ataxia, trigeminal anaesthesia and parietal alopecia with pons-vermis fusion anomaly (atresia of the fourth ventricle). Report of two cases. 8
7133329 1982
9
Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome. 8
95427 1979
10
Gómez-López-Hernández Syndrome: A Rare Cause of Bilateral Nonscarring Alopecia. 6
26391554 2015
11
Unsolved recognizable patterns of human malformation: Challenges and opportunities. 38
30580485 2018
12
Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature. 38
30181940 2018
13
PERIOPERATIVE CARE OF AN INFANT WITH GOMEZ-LOPEZ-HERNANDEZ SYNDROME. 38
27487646 2016
14
Anaesthesia and orphan disease: anaesthesia for Gomez-Lopez-Hernandez syndrome. 38
25226063 2015
15
Orbital bands in Gomez-Lopez-Hernandez syndrome. 38
23143464 2012
16
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. 38
19057916 2009
17
Gomez-Lopez-Hernandez syndrome: two new cases and review of the literature. 38
19068257 2009
18
Gomez-Lopez-Hernandez syndrome: an easily missed diagnosis. 38
18342593 2008
19
Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature. 38
17483961 2008
20
Gomez-Lopez-Hernandez syndrome: another consideration in focal congenital alopecia. 38
17489973 2007
21
Gomez-Lopez-Hernandez syndrome. 38
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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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