Gómez-López-Hernández syndrome
Synonyms: Cerebellotrigeminal-dermal dysplasia syndrome · Craniosynostosis-alopecia-brain defect syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Neonatal
- Status
- active
A rare neurocutaneous syndrome characterized by the association of cerebellum (rhombencephalosynapsis), cranial nerves (trigeminal anesthesia), and scalp (alopecia) abnormalities. 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.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Gómez-López-Hernández syndrome | Cerebellotrigeminal-dermal dysplasia syndrome · Craniosynostosis-alopecia-brain defect syndrome |
| fr | Syndrome de Gómez-López-Hernández | Syndrome de craniosynostose-alopécie-ventricule cérébral anormal |
| de | Gómez-López-Hernández-Syndrom | Zerebellotrigeminale dermale Dysplasie · Kraniosynostose - Alopezie - Hirndefekt |
| es | Síndrome de Gómez-López-Hernández | Craneosinostosis-alopecia-defecto cerebral · Displasia cerebelo-trigemino-dérmica |
| it | Sindrome di Gómez-López-Hernández | Craniosinostosi - alopecia - anomalia cerebrale · Displasia cerebello-trigemino-dermica |
| nl | Syndroom van Gómez-López-Hernández | Cerebellotrigeminale-dermale dysplasie-syndroom · Craniosynostose - alopecie - hersendefect-syndroom |
| pt | Síndrome Gómez-López-Hernández | Craniossinostose-alopecia-anomalia cerebral · Síndrome Lopez-Hernandez |
| pl | Zespół Gómeza, López i Hernándeza | Dysplazja móżdżkowo-trójdzielno-skórna · Kraniosynostoza - łysienie - defekt mózgu |
| cs | Gómezův-López-Hernándezův syndrom | Syndrom cerebelotrigeminální-dermální dysplázie · Syndrom zahrnující kraniosynostózu, alopecii a defekt mozku · Gómez-López-Hernándezův syndrom |
| uk | Синдром Гомеса-Лопеса-Ернандеса | Синдром церебелотригемінально-дермальної дисплазії · Синдром краніосиностозу-алопеції-дефекту головного мозку |
| zh | Gómez-López-Hernández综合征 | 颅缝早闭-脱发-脑缺损综合征 |
| tr | Gómez-López-Hernández syndrome | Serebellotrigeminal-dermal displazi sendromu · Kraniyosinostoz-alopesi-beyin defekti sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601853 | E | validated | |
| ICD-10 | Q07.8 | NTBT | attributed | validated |
| MONDO | 0011157 | E | validated | |
| MeSH | C537285 | E | validated | |
| UMLS | C0795959 | E | validated | |
| GARD | 229 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:729538Syndromic rhombencephalosynapsis
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 36 cases | Worldwide | Case(s) | Validated | 28357184[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28357184[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
22 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002363 | Abnormal brainstem morphology | |
| HP:0001317 | Abnormal cerebellum morphology | |
| HP:0002293 | Alopecia of scalp | |
| HP:0001251 | Ataxia | |
| HP:0000248 | Brachycephaly | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0100543 | Cognitive impairment | |
| HP:0007957 | Corneal opacity | |
| HP:0000238 | Hydrocephalus | |
| HP:0007328 | Impaired pain sensation | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000369 | Low-set ears | |
| HP:0011800 | Midface retrusion | |
| HP:0004322 | Short stature | |
| HP:0000262 | Turricephaly | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0000316 | Hypertelorism | |
| HP:0000298 | Mask-like facies | |
| HP:0000506 | Telecanthus | |
| HP:0000233 | Thin vermilion border | |
| HP:0100797 | Toenail dysplasia | |
| HP:0000505 | Visual impairment | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1532
- This record as JSON: /data/d/1532.json