ORPHA:974
Adams-Oliver syndrome
Synonyms: AOS · Aplasia cutis congenita with distal limb anomalies · Aplasia cutis congenita with terminal transverse limb defects · Congenital scalp defects with distal limb anomalies · Congenital scalp defects with distal limb reduction anomalies
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by the combination of congenital distal limb reduction and scalp defects, often accompanied by skull ossification defects.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Adams-Oliver syndrome | AOS · Aplasia cutis congenita with distal limb anomalies · Aplasia cutis congenita with terminal transverse limb defects · Congenital scalp defects with distal limb anomalies · Congenital scalp defects with distal limb reduction anomalies |
| fr | Syndrome d'Adams-Oliver | Syndrome d'anomalie congénitale du cuir chevelu-anomalies distales des membres · Syndrome d'anomalie congénitale du cuir chevelu-réduction distale des membres |
| de | Adams-Oliver-Syndrom | AOS · Aplasia cutis congenita mit Anomalien der distalen Gliedmaßen · Aplasia cutis congenita mit terminalen Querschnittsdefekten der Gliedmaßen · Kongenitaler Kopfhautdefekt mit Anomalien der distalen Gliedmaßen · Kongenitaler Kopfhautdefekt mit Reduktionsdefekt der distalen Gliedmaßen |
| es | Síndrome de Adams-Oliver | Aplasia cutis congénita con anomalías de las extremidades distales · Aplasia cutis congénita con defectos terminales transversales de las extremidades · Defectos congénitos del cuero cabelludo con anomalías de reducción distal de las extremidades · Defectos congénitos del cuero cabelludo con anomalías distales de las extremidades |
| it | Sindrome di Adams-Oliver | AOS · Aplasia cutanae congenita con anomalie della porzione distale degli arti · Aplasia cutanae congenita con difetti trasversali della porzione terminale degli arti · Difetti congeniti del cuoio capelluto con anomalie della porzione distale degli arti · Difetti congeniti del cuoio capelluto con anomalie in riduzione degli arti |
| nl | Syndroom van Adams-Oliver | AOS · Aplasia cutis congenita met distale ledemaatanomalieën · Aplasia cutis congenita met terminale transversale ledemaatdefecten · Congenitale defecten van scalp met distale ledemaatanomalieën · Congenitale defecten van scalp met lengtedefect van distale ledematen |
| pt | Síndrome Adams-Oliver | AOS · Aplasia cutis congénita com anomalias distais dos membros · Aplasia cutis congénita com defeitos terminais transversos dos membros · Defeitos congénitos do escalpe com anomalias distais de redução dos membros · Defeitos congénitos do escalpe com anomalias distais dos membros |
| pl | Zespół Adamsa i Olivera | AOS · Wady kończyn, skalpu i czaszki · Wady wrodzone skalpu z wadami dystalnych odcinków kończyn · Wady wrodzone skalpu ze skróceniem dystalnych odcinków kończyn |
| cs | Adamsův-Oliverův syndrom | AOS · Vrozené defekty kůže hlavy s distálními anomáliemi končetin · Vrozené defekty kůže hlavy s distálně-redukčními anomáliemi končetin · Defekty končetin, kůže hlavy a lebky · Adams-Oliverův syndrom |
| uk | Синдром Адамса-Олівера | AOS · Вроджена аплазія шкіри з дистальними аномаліями кінцівок · Вроджена аплазія шкірного покриву з термінальними поперечними дефектами кінцівок · Вроджені вади розвитку волосистої частини голови з дистальними аномаліями кінцівок · Вроджені вади розвитку волосистої частини голови з аномаліями дистальної редукції кінцівок |
| zh | Adams-Oliver综合征 | 先天性头皮缺损伴远端肢体残缺异常 |
| tr | Adams-Oliver sendromu | AOS · Ekstremite, kafa derisi ve kafatası defektleri · Distal ekstremite anomalili doğumsal kafa derisi defektleri · Distal ekstremite küçültme anomalileri ile doğumsal kafa derisi defektleri |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 100300 | E | validated | |
| OMIM | 614219 | BTNT | validated | |
| OMIM | 614814 | BTNT | validated | |
| OMIM | 615297 | BTNT | validated | |
| OMIM | 616028 | BTNT | validated | |
| OMIM | 616589 | BTNT | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0007034 | E | validated | |
| MeSH | C538225 | E | validated | |
| UMLS | C0265268 | E | validated | |
| GARD | 5739 | E | validated | |
| MedDRA | 10079369 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (11):
- ORPHA:98038Cranial malformation
rare developmental anomalies during embryogenesis - ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183542Genetic cranial malformation
rare genetic diseases - ORPHA:183481Genetic mixed dermis disorder
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:79380Mixed dermis disorder
rare skin diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases
No children.
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Genes
6 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ARHGAP31 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:29216 | ENSG00000031081 | 610911 | 3q13.32-q13.33 | Rho GTPase activating protein 31 | 21565291[PMID] |
| DLL4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2910 | ENSG00000128917 | 605185 | 15q15.1 | delta like canonical Notch ligand 4 | 26299364[PMID] |
| DOCK6 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:19189 | ENSG00000130158 | 614194 | 19p13.2 | dedicator of cytokinesis 6 | 21820096[PMID] |
| EOGT | Disease-causing germline mutation(s) in | Assessed | HGNC:28526 | ENSG00000163378 | 614789 | 3p14.1 | EGF domain specific O-linked N-acetylglucosamine transferase | 23522784[PMID] |
| NOTCH1 | Disease-causing germline mutation(s) in | Assessed | HGNC:7881 | ENSG00000148400 | 190198 | 9q34.3 | notch receptor 1 | 25132448[PMID] |
| RBPJ | Disease-causing germline mutation(s) in | Assessed | HGNC:5724 | ENSG00000168214 | 147183 | 4p15.2 | recombination signal binding protein for immunoglobulin kappa J region | 22883147[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.44 / 100 000 | Worldwide | Value and class | Validated | 35449659[PMID]_ORPHANET |
| Cases/families | 398 cases | Worldwide | Case(s) | Validated | 28160419[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.
6
HPO phenotypes
46 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002814 | Abnormality of the lower limb | |
| HP:0002817 | Abnormality of the upper limb | |
| HP:0004050 | Absent hand | |
| HP:0010760 | Absent toe | |
| HP:0001057 | Aplasia cutis congenita | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0000965 | Cutis marmorata | |
| HP:0001508 | Failure to thrive | |
| HP:0001362 | Skull defect | |
| HP:0008070 | Sparse hair | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001641 | Abnormal pulmonary valve morphology | |
| HP:0001156 | Brachydactyly | |
| HP:0000518 | Cataract | |
| HP:0006101 | Finger syndactyly | |
| HP:0000238 | Hydrocephalus | |
| HP:0000568 | Microphthalmia | |
| HP:0004935 | Pulmonary artery atresia | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0001171 | Split hand | |
| HP:0000486 | Strabismus | |
| HP:0001883 | Talipes | |
| HP:0001636 | Tetralogy of Fallot | |
| Occasional (29-5%) | ||
| HP:0001817 | Absent fingernail | |
| HP:0001596 | Alopecia | |
| HP:0010624 | Aplastic/hypoplastic toenail | |
| HP:0100026 | Arteriovenous malformation | |
| HP:0001541 | Ascites | |
| HP:0001394 | Cirrhosis | |
| HP:0002612 | Congenital hepatic fibrosis | |
| HP:0002353 | EEG abnormality | |
| HP:0002084 | Encephalocele | |
| HP:0002040 | Esophageal varix | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0001269 | Hemiparesis | |
| HP:0001276 | Hypertonia | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0001249 | Intellectual disability | |
| HP:0001882 | Leukopenia | |
| HP:0006970 | Periventricular leukomalacia | |
| HP:0002132 | Porencephaly | |
| HP:0001409 | Portal hypertension | |
| HP:0001622 | Premature birth | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0001250 | Seizure | |
| HP:0001873 | Thrombocytopenia | |
Run the differential on the 10 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/974
- This record as JSON: /data/d/974.json