Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Synonyms: RHOA-related mosaic ectodermal dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- No data available
- Status
- active
A rare ectodermal dysplasia syndrome characterized by linear hypopigmentation and hypotrichosis following the lines of Blaschko, symmetric or asymmetric facial dysmorphism, and body asymmetry, in association with ocular, dental, and acral anomalies. Reported manifestations include microphthalmia, strabismus, myopia, oligodontia, microdontia, conical teeth, abnormal enamel, brachydactyly, syndactyly, and broad first toe, as well as dysmorphic facial features such as downslanting palpebral fissures, broad nasal bridge, malar hypoplasia, and microstomia. Brain imaging may show cystic leukoencephalopathy and ventricular dilation.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | RHOA-related mosaic ectodermal dysplasia |
| fr | Hypopigmentation linéaire et asymétrie craniofaciale avec anomalies acrales, oculaires et cérébrales | Dysplasie ectodermique en mosaïque liée à RHOA |
| de | Lineare Hypopigmentierung und kraniofaziale Asymmetrie mit Akren-, Augen- und Gehirnanomalien | RHOA-assoziierte ektodermale Dysplasie im Mosaik |
| es | Hipopigmentación lineal y asimetría craneofacial con anomalías acrales, oculares y cerebrales | Displasia ectodérmica en mosaico asociada a RHOA |
| it | Ipopigmentazione lineare e asimmetria craniofacciale con anomalie acrali, oculari e cerebrali | Displasia ectodermica in mosaico associata a RHOA |
| nl | Lineaire hypopigmentatie en craniofaciale asymmetrie met acrale, oculaire en cerebrale anomalieën | RHOA-gerelateerde mozaïsche ectodermale dysplasie |
| pt | Hipopigmentação linear e assimetria facial com anomalias acrais, oculares e cerebrais | |
| pl | Hipopigmentacja linijna i asymetria twarzoczaszkowa z wadami palców, oczu i mózgu | Dysplazja ektodermalna mozaikowa związana z RHOA |
| cs | Lineární hypopigmentace a kraniofaciální asymetrie s akrálními, očními a mozkovými anomáliemi | = en |
| uk | Лінійна гіпопігментація та черепно-лицьова асиметрія з акральними, очними та мозковими аномаліями | Мозаїчна ектодермальна дисплазія, повязана з RHOA |
| zh | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | = en |
| tr | Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618727 | E | validated | |
| ICD-10 | Q82.4 | NTBT | attributed | validated |
| MONDO | 0035124 | E | validated | |
| UMLS | C5680313 | 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 (4):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:79376Hypopigmentation of the skin
rare skin diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RHOA | Disease-causing germline mutation(s) in | Assessed | HGNC:667 | ENSG00000067560 | 165390 | 3p21.31 | ras homolog family member A | 31570889[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 31570889[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/589608
- This record as JSON: /data/d/589608.json