Gómez-López-Hernández syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: GLH SYNDROME
GOMEZ-LOPEZ-HERNANDEZ SYNDROME
CEREBELLO-TRIGEMINAL-DERMAL DYSPLASIA
Cerebellotrigeminal - dermal dysplasia
Craniosynostosis - alopecia - brain defect
Number of Symptoms 62
OrphanetNr: 1532
OMIM Id: 601853
ICD-10: Q07.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 34 cases [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with a cerebellar malformation as major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000272) Malar flattening 277 / 7739
2
 (HPO:0000260) Wide anterior fontanel 55 / 7739
3
 (HPO:0000319) Smooth philtrum 72 / 7739
4
 (HPO:0000248) Brachycephaly Very frequent [Orphanet] 222 / 7739
5
 (HPO:0000262) Turricephaly Very frequent [Orphanet] 38 / 7739
6
 (HPO:0002678) Skull asymmetry 4 / 7739
7
 (HPO:0000233) Thin vermilion border Frequent [Orphanet] 124 / 7739
8
 (HPO:0011800) Midface retrusion Very frequent [Orphanet] 221 / 7739
9
 (HPO:0003196) Short nose 264 / 7739
10
 (HPO:0000218) High palate 356 / 7739
11
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
12
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 305 / 7739
13
 (HPO:0002645) Wormian bones 65 / 7739
14
 (HPO:0001363) Craniosynostosis 132 / 7739
15
 (HPO:0000506) Telecanthus Frequent [Orphanet] 156 / 7739
16
 (HPO:0000298) Mask-like facies Frequent [Orphanet] 44 / 7739
17
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
18
 (HPO:0007957) Corneal opacity 84 / 7739
19
 (HPO:0000572) Visual loss Frequent [Orphanet] 272 / 7739
20
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
21
 (HPO:0000486) Strabismus 576 / 7739
22
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
23
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
24
 (HPO:0000369) Low-set ears 372 / 7739
25
 (HPO:0100716) Self-injurious behavior 43 / 7739
26
 (HPO:0007302) Bipolar affective disorder 15 / 7739
27
 (HPO:0001250) Seizures 1245 / 7739
28
 (HPO:0000752) Hyperactivity 140 / 7739
29
 (HPO:0007021) Pain insensitivity Very frequent [Orphanet] 35 / 7739
30
 (HPO:0002066) Gait ataxia Very frequent [Orphanet] 327 / 7739
31
 (HPO:0001347) Hyperreflexia 363 / 7739
32
 (HPO:0100543) Cognitive impairment 230 / 7739
33
 (HPO:0001251) Ataxia 413 / 7739
34
 (HPO:0001276) Hypertonia 317 / 7739
35
 (HPO:0000716) Depression 99 / 7739
36
 (HPO:0000824) Growth hormone deficiency 56 / 7739
37
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
38
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
39
 (HPO:0001596) Alopecia 162 / 7739
40
 (HPO:0001805) Thick nail Frequent [Orphanet] 96 / 7739
41
 (HPO:0001252) Muscular hypotonia 990 / 7739
42
 (HPO:0010547) Muscle flaccidity 466 / 7739
43
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
44
 (HPO:0001324) Muscle weakness 859 / 7739
45
 (OMIM) Parieto-occipital alopecia 1 / 7739
46
 (HPO:0003745) Sporadic 131 / 7739
47
 (OMIM) Overlapping sutures 1 / 7739
48
 (HPO:0000238) Hydrocephalus Very frequent [Orphanet] 278 / 7739
49
 (OMIM) Trigeminal anesthesia 1 / 7739
50
 (HPO:0001317) Abnormality of the cerebellum 36 / 7739
51
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739
52
 (OMIM) Agenesis or hypogenesis of the cerebellar vermis 1 / 7739
53
 (HPO:0002334) Abnormality of the cerebellar vermis Very frequent [Orphanet] 137 / 7739
54
 (OMIM) Fusion of the dentate nuclei and the superior cerebellar peduncles 1 / 7739
55
 (OMIM) Absent corneal reflexes 2 / 7739
56
 (HPO:0002335) Agenesis of cerebellar vermis 25 / 7739
57
 (HPO:0002363) Abnormality of brainstem morphology Very frequent [Orphanet] 14 / 7739
58
 (HPO:0006899) Fusion of the cerebellar hemispheres 1 / 7739
59
 (OMIM) Head-rolling movements 1 / 7739
60
 (OMIM) Head nodding 5 / 7739
61
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
62
 (OMIM) Rhombencephalosynapsis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cerebellotrigeminal dermal dysplasia, also known as Gomez-Lopez-Hernandez (GLH) syndrome, 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 ...
Diagnosis OMIM In a literature review of the diagnostic criteria for Gomez-Lopez-Hernandez syndrome, Sukhudyan et al. (2010) noted that rhombencephalosynapsis and alopecia are consistent findings, but that trigeminal anesthesia was absent in 4 of 21 cases in the literature, as ...
Clinical Description OMIM Four unrelated patients with a constellation of features, consisting of craniosynostosis, ataxia, trigeminal anesthesia, scalp alopecia, cerebellar anomaly, midface hypoplasia, corneal opacities, low-set ears, mental retardation, and short stature were reported by Gomez (1979), Lopez-Hernandez (1982), and Pascual-Castroviejo ...