Alopecia-contractures-dwarfism-intellectual disability syndrome
Synonyms: ACD-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A form of ectodermal dysplasia syndrome characterized by a short stature of prenatal onset, alopecia, ichthyosis, photophobia, ectrodactyly, seizures, scoliosis, multiple contractures, fusions of various bones (particularly elbows, carpals, metacarpals, and spine), intellectual disability, and facial dysmorphism (microdolichocephaly, madarosis, large ears and long nose). ACD syndrome overlaps with ichthyosis follicularis-alopecia-photophobia syndrome.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Alopecia-contractures-dwarfism-intellectual disability syndrome | ACD-intellectual disability syndrome |
| fr | Syndrome d'alopécie-contractures-nanisme-déficience intellectuelle | |
| de | Alopezie-Kontrakturen-Kleinwuchs-Intelligenzminderung-Syndrom | ACD-Intelligenzminderung-Syndrom |
| es | Síndrome de alopecia-contracturas-talla baja significativa-discapacidad intelectual | |
| it | Sindrome alopecia-contratture-nanismo-disabilità cognitiva | Sindrome ACD-disabilità cognitiva |
| nl | Alopecie - contracturen - dwerggroei - intellectuele achterstand-syndroom | ACD - intellectuele achterstand-syndroom |
| pt | Síndrome de alopecia-contraturas-nanismo-perturbação do desenvolvimento intelectual | Síndrome de ACD-perturbação do desenvolvimento intelectual |
| pl | Zespół łysienie, przykurcze, karłowatość i niepełnosprawność intelektualna | = en |
| cs | Syndrom zahrnující alopecii, kontraktury, trpaslictví a mentální retardaci | = en |
| uk | Синдром алопеції - контрактур - карликовості - інтелектуальної недостатності | Синдром ACD-інтелектуальної недостатності |
| zh | 脱发-挛缩-侏儒症-智力障碍综合征 | ACD-智力障碍综合征 |
| tr | Alopesi-kontraktürler-cücelik-zihinsel yetersizlik sendromu | ACD-zihinsel yetersizlik sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 203550 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD27.0Y | NTBT | index | validated |
| MONDO | 0008754 | E | validated | |
| MeSH | C537051 | E | validated | |
| UMLS | C4303742 | E | validated | |
| GARD | 605 | 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 6250998[PMID]_7158638[PMID]_10861681[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6250998[PMID]_7158638[PMID]_10861681[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
35 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001596 | Alopecia | |
| HP:0000966 | Hypohidrosis | |
| HP:0001249 | Intellectual disability | |
| HP:0006887 | Intellectual disability, progressive | |
| HP:0001387 | Joint stiffness | |
| HP:0002808 | Kyphosis | |
| HP:0003510 | Severe short stature | |
| HP:0008070 | Sparse hair | |
| Frequent (79-30%) | ||
| HP:0011039 | Abnormal helix morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0009811 | Abnormality of the elbow | |
| HP:0004422 | Biparietal narrowing | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0006101 | Finger syndactyly | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000316 | Hypertelorism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0008855 | Moderate postnatal growth retardation | |
| HP:0000545 | Myopia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000448 | Prominent nose | |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0000262 | Turricephaly | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0003422 | Vertebral segmentation defect | |
| Occasional (29-5%) | ||
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0002827 | Hip dislocation | |
| HP:0008064 | Ichthyosis | |
| HP:0002650 | Scoliosis | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1005
- This record as JSON: /data/d/1005.json