Primary non-essential cutis verticis gyrata
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Childhood, Infancy, Neonatal
- Status
- active
A rare genetic dermis disorder characterized by slowly progressive thickening of the scalp, which becomes raised and forms ridges and furrows with symmetrical distribution resembling the cerebral gyri and cannot be flattened by traction or pressure, associated with ophthalmologic (e.g. congenital cataract) and/or neurological abnormalities (e.g. intellectual disability, epilepsy, microcephaly, encephalopathy).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Primary non-essential cutis verticis gyrata | |
| fr | Pachydermie vorticellée primaire non essentielle du cuir chevelu | Pachydermie plicaturée primaire non essentielle du cuir chevelu |
| de | Primäre Cutis verticis gyrata, nicht-essentielle | |
| es | Cutis verticis gyrata primaria no esencial | |
| it | Cutis verticis gyrata primitiva non essenziale | |
| nl | Primaire niet-essentiële cutis verticis gyrata | |
| pt | Cutis verticis gyrata, não-essencial primária | |
| pl | Pierwotna łagodna skóra kręta ciemienia | |
| cs | Primární neesenciální cutis verticis gyrata | |
| uk | Первинна невиражена складчаста пахідермія | |
| zh | 原发性非原位性脑回状头皮 | |
| tr | Primer esansiyel olmayan cutis verticis gyrata |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 219300 | E | validated | |
| ICD-10 | Q82.8 | NTBT | attributed | validated |
| ICD-11 | EE7Y | NTBT | index | validated |
| MONDO | 0018168 | E | validated | |
| UMLS | C4755295 | 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 (3):
- ORPHA:477808Other genetic dermis disorder
rare genetic diseases - ORPHA:671Primary cutis verticis gyrata
rare skin diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1557Cutis verticis gyrata-intellectual disability syndrome moved to · inactive
- ORPHA:79482Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome moved to · inactive
- ORPHA:217315Cutis verticis gyrata-retinitis pigmentosa-sensorineural deafness syndrome moved to · inactive
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
16 annotations · validated 2019-11-07| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010541 | Cutis gyrata of scalp | |
| Frequent (79-30%) | ||
| HP:0030455 | Abnormality of pattern visual evoked potentials | |
| HP:0000290 | Abnormality of the forehead | |
| HP:0000519 | Developmental cataract | |
| HP:0002171 | Gliosis | |
| HP:0001263 | Global developmental delay | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0001631 | Atrial septal defect | |
| HP:0001298 | Encephalopathy | |
| HP:0010562 | Keloids | |
| HP:0000252 | Microcephaly | |
| HP:0007663 | Reduced visual acuity | |
| HP:0002650 | Scoliosis | |
| HP:0001629 | Ventricular septal defect | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 17535195[PMID]_30969634[PMID]_16955199[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/357225
- This record as JSON: /data/d/357225.json