AREDYLD syndrome
historical
Synonyms: Acrorenal defect-ectodermal dysplasia-diabetes syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
A rare genetic ectodermal dysplasia syndrome characterized by lipoatrophic diabetes, mild craniofacial dysmorphism (such as pronounced antitragal incisura and mandibular prognathism), ectodermal dysplasia (generalized hypotrichosis and dental and nail abnormalities), hypoplasia or aplasia of the breasts, and urogenital/renal anomalies. Additional reported manifestations include skeletal abnormalities and hepatosplenomegaly. There have been no further descriptions in the literature since 1992.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | AREDYLD syndrome | Acrorenal defect-ectodermal dysplasia-diabetes syndrome |
| fr | Syndrome AREDYLD | Syndrome d'anomalie acrorénale-dysplasie ectodermique-diabète |
| de | AREDYLD-Syndrom | Akrorenale Anomalien mit ektodermaler Dysplasie und Diabetes |
| es | Síndrome AREDYLD | Anomalía acrorenal-displasia ectodérmica-diabetes |
| it | Sindrome AREDYLD | Anomalia acrorenale - displasia ectodermica - diabete |
| nl | AREDYLD-syndroom | Acrorenaal defect - ectodermale dysplasie - diabetes-syndroom |
| pt | Síndrome AREDYLD | |
| pl | Zespół AREDYLD | Defekt kończynowo-nerkowy - dysplazja naskórka - cukrzyca |
| cs | AREDYLD syndrom | Syndrom zahrnující akrorenální defekty, ektodermální dysplázii a diabetes |
| uk | Синдром AREDYLD | Синдром акроренального дефекту-ектодермальної дисплазії-цукрового діабету |
| zh | AREDYLD 综合征 | 肾缺损-外胚层发育不良-糖尿病综合征 |
| tr | AREDYLD sendromu | Akrorenal defekt-ektodermal displazi-diyabet sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 207780 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0008812 | E | validated | |
| MeSH | C537427 | E | validated | |
| UMLS | C0342280 | E | validated | |
| GARD | 8509 | 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:79373Ectodermal dysplasia syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases - ORPHA:181381Other rare diabetes mellitus
rare endocrine diseases - ORPHA:183625Rare genetic diabetes mellitus
rare genetic diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
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 | 3 cases | Worldwide | Case(s) | Validated | 6638067[PMID]_1488989[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6638067[PMID]_1488989[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
26 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005105 | Abnormal nasal morphology | |
| HP:0009912 | Abnormal tragus morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | |
| HP:0000069 | Abnormality of the ureter | |
| HP:0006288 | Advanced eruption of teeth | |
| HP:0010311 | Aplasia/Hypoplasia of the breasts | |
| HP:0100840 | Aplasia/Hypoplasia of the eyebrow | |
| HP:0001156 | Brachydactyly | |
| HP:0004326 | Cachexia | |
| HP:0004493 | Craniofacial hyperostosis | |
| HP:0002240 | Hepatomegaly | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0100578 | Lipoatrophy | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0004828 | Refractory anemia with ringed sideroblasts | |
| HP:0002650 | Scoliosis | |
| HP:0004322 | Short stature | |
| HP:0000319 | Smooth philtrum | |
| HP:0002231 | Sparse body hair | |
| HP:0001744 | Splenomegaly | |
| HP:0100651 | Type I diabetes mellitus | |
| HP:0005978 | Type II diabetes mellitus | |
| HP:0000582 | Upslanted palpebral fissure | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1133
- This record as JSON: /data/d/1133.json