Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
historical
Synonyms: Westerhof-Beemer-Cormane syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome is a rare, genetic pigmentation anomaly of the skin disorder characterized by congenital hypomelanotic and hypermelanotic cutaneous macules associated with, in some patients, retarded growth and intellectual disability. There have been no further descriptions in the literature since 1978.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome | Westerhof-Beemer-Cormane syndrome |
| fr | Syndrome de macules cutanées hypo- et hypermélaniques-retard de croissance-déficience intellectuelle | Syndrome de Westerhof-Beemer-Cormane |
| de | Maculae, hypopigmentierte und hyperpigmentierte, hereditäre kongenitale | Westerhof-Beemer-Cormane-Syndrom |
| es | Síndrome de máculas cutáneas hiper- e hipopigmentadas-retraso del crecimiento-discapacidad intelectual | |
| it | Macule cutanee ipo- e ipermelanotiche - ritardo della crescita - disabilità intellettiva | Sindrome di Westerhof-Beemer-Cormane |
| nl | Hypo- en hypermelanotische cutane maculae - vertraagde groei - intellectuele achterstand-syndroom | Syndroom van Westerhof-Beemer-Cormane |
| pt | Síndrome de máculas congénitas hereditárias hipo- e hiperpigmentadas-perturbação do crescimento e do desenvolvimento intelectual | Síndrome Westerhof-Beemer-Cormane |
| pl | plamy skórne hipomelanotyczne i hipermelanotyczne - opóźnienie wzrostu - niepełnosprawność intelektualna | Zespół Westerhofa, Beemera i Cormane'a |
| cs | Syndrom zahrnující hypo- a hypermelanózní kožní makuly, opožděný růst a mentální retardaci | Westerhofův-Beemerův-Cormaneův syndrom · Westerhof-Beemer-Cormaneův syndrom |
| uk | Синдром гіпо- та гіпермеланотичної шкірної макули-затримки росту-інтелектуальної недостатності | Синдром Вестергофа-Бімера-Кормана |
| zh | 低黑斑和深黑斑-生长迟缓-智力残疾综合征 | Westerhof-Beemer-Cormane综合征 |
| tr | Hipo- ve hipermelanotik kutanöz maküller-gelişme geriliği-zihinsel yetersizlik sendromu | Westerhof-Beemer-Cormane sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | L81.8 | NTBT | attributed | validated |
| ICD-11 | EC23.Y | NTBT | attributed | validated |
| MONDO | 0016574 | E | validated | |
| MeSH | C537836 | E | validated | |
| UMLS | C1835172 | E | validated | |
| GARD | 3347 | 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:183463Genetic pigmentation anomaly of the skin
rare genetic diseases - ORPHA:79374Pigmentation anomaly of the skin
rare skin diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; 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 | 14 cases | Worldwide | Case(s) | Validated | 666331[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_666331[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
8 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001053 | Hypopigmented skin patches | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0012733 | Macule | |
| HP:0000995 | Melanocytic nevus | |
| Frequent (79-30%) | ||
| HP:0001249 | Intellectual disability | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0000252 | Microcephaly | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2435
- This record as JSON: /data/d/2435.json