Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
historical
Synonyms: Char-Douglas-Dungan syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- historical
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome | Char-Douglas-Dungan syndrome |
| fr | Syndrome d'extrasystoles-petite taille-hyperpigmentation-microcéphalie | Syndrome de Char-Douglas-Dungan |
| de | Extrasystolen-Kleinwuchs-Hyperpigmentierung-Mikrozephalie-Syndrom | Char-Douglas-Dungan-Syndrom |
| es | Síndrome de extrasístoles-talla baja-hiperpigmentación-microcefalia | Síndrome de Char-Douglas-Dungan |
| it | Sindrome da extrasistoli, bassa statura, iperpigmentazione e microcefalia | Sindrome di Char-Douglas-Dungan |
| nl | Extrasystolen - kleine gestalte - hyperpigmentatie - microcefalie-syndroom | Syndroom van Char-Douglas-Dungan |
| pt | Síndrome de extra-sístoles-baixa estatura-hiperpigmentação-microcefalia | Síndrome Char-Douglas-Dungan |
| pl | Zespół skurcze dodatkowe – niski wzrost – hiperpigmentacja – małogłowie | Zespół Char, Douglasa i Dungana |
| cs | Syndrom zahrnující extrasystoly, malý vzrůst, hyperpigmentaci a mikrocefalii | Charův-Douglasův-Dunganův syndrom · Char-Douglas-Dunganův syndrom |
| uk | Синдром екстрасистолії-низького зросту-гіперпігментації- мікроцефалії | Синдром Шар-Дугласа-Дунгана |
| zh | 早搏-身材矮小-色素沉着-小头畸形综合征 | Char-Douglas-Dungan综合征 |
| tr | Ekstrasistoller-kısa boy-hiperpigmentasyon-mikrosefali sendromu | Char-Douglas-Dungan sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 133750 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0007588 | E | validated | |
| UMLS | C4749763 | E | validated | |
| GARD | 2213 | 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 (6):
- ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
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 | 2 cases | Worldwide | Case(s) | Validated | 1218236[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_1218236[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
13 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0006689 | Bacterial endocarditis | |
| HP:0012722 | Heart block | |
| HP:0000316 | Hypertelorism | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0009804 | Tooth agenesis | |
| HP:0006682 | Ventricular extrasystoles | |
| Frequent (79-30%) | ||
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0004322 | Short stature | |
| HP:0000486 | Strabismus | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1964
- This record as JSON: /data/d/1964.json