Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome is a rare, multiple developmental anomalies syndrome characterized by the triad of ectodermal dysplasia (mostly hypohidrotic with dry skin and reduced sweating and sparse, fair scalp hair, eyebrows and eyelashes), severe intellectual disability and variable central nervous system anomalies (cerebellar hypoplasia, dilatation of ventricles, corpus callosum agenesis, Dandy-Walker malformation). Distinct craniofacial dysmorphism with macrocephaly, frontal bossing, midfacial hypoplasia and high arched or cleft palate, as well as cryptorchidism, feeding difficulties and hypotonia, are associated. There have been no further descriptions in the literature since 1998.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome | |
| fr | Syndrome de dysplasie ectodermique-déficience intellectuelle-malformation du système nerveux central | |
| de | Ektodermale Dysplasie-Intelligenzminderung-ZNS-Fehlbildung-Syndrom | Ektodermale Dysplasie mit Intelligenzminderung und Fehlbildung des zentralen Nervensystems |
| es | Síndrome de displasia ectodérmica-discapacidad intelectual-malformación del sistema nervioso central | |
| it | Sindrome displasia ectodermica-disabilità intellettiva-malformazioni del sistema nervoso centrale | |
| nl | Ectodermale dysplasie - intellectuele achterstand - malformatie van centraal zenuwstelsel-syndroom | |
| pt | Síndrome de displasia ectodérmica-perturbação do desenvolvimento intelectual-malformação do SNC | |
| pl | Dysplazja ektodermalna - upośledzenie umysłowe- wada centralnego układu nerwowego | |
| cs | Syndrom zahrnující ektodermální dysplázii, mentální retardaci a malformaci centrálního nervového systému | |
| uk | Синдром ектодермальної дисплазії - інтелектуальної недостатності - мальформації центральної нервової системи | |
| zh | 外胚层发育不良-智力障碍-中枢神经系统畸形综合征 | |
| tr | Ektodermal displazi-zihinsel yetersizlik-merkezi sinir sistemi malformasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 225040 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0009149 | E | validated | |
| UMLS | C4518334 | 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:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
39 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000682 | Abnormality of dental enamel | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0007360 | Aplasia/Hypoplasia of the cerebellum | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000958 | Dry skin | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002213 | Fine hair | |
| HP:0002007 | Frontal bossing | |
| HP:0001288 | Gait disturbance | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0000966 | Hypohidrosis | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0010669 | Hypoplasia of the zygomatic bone | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0000691 | Microdontia | |
| HP:0000278 | Retrognathia | |
| HP:0003196 | Short nose | |
| HP:0000963 | Thin skin | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0000492 | Abnormal eyelid morphology | |
| HP:0002991 | Abnormal fibula morphology | |
| HP:0010624 | Aplastic/hypoplastic toenail | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0000490 | Deeply set eye | |
| HP:0000286 | Epicanthus | |
| HP:0000821 | Hypothyroidism | |
| HP:0001252 | Hypotonia | |
| HP:0000023 | Inguinal hernia | |
| HP:0000767 | Pectus excavatum | |
| HP:0001561 | Polyhydramnios | |
| HP:0001852 | Sandal gap | |
| HP:0002558 | Supernumerary nipple | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1812
- This record as JSON: /data/d/1812.json