Cryptorchidism-arachnodactyly-intellectual disability syndrome
historical
Synonyms: Van Benthem-Driessen-Hanveld syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
Cryptorchidism-arachnodactyly-intellectual disability syndrome is a rare, multiple congenital anomalies syndrome characterized by psychomotor delay, severe intellectual deficit, severe muscle hypoplasia (with absence of subcutaneous fatty tissue), generalized contractures, craniofacial dysmorphic features (dolichocephaly, esotropia, ears of unequal size, high palate), chest and spinal deformities (i.e. sternum shifted to side, kyphoscoliosis), pulmonary anomalies (unilateral hypoplastic bronchial system), arachnodactyly, and genital abnormalities (cryptorchidism, hypospadias, testicular agenesis). Repeated respiratory tract infections and atelectasis are also associated. There have been no further descriptions in the literature since 1970.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cryptorchidism-arachnodactyly-intellectual disability syndrome | Van Benthem-Driessen-Hanveld syndrome |
| fr | Syndrome de cryptorchidie-arachnodactylie-déficience intellectuelle | Syndrome de Van Benthem-Driessen-Hanveld |
| de | Kryptorchismus-Arachnodaktylie-Intelligenzminderung-Syndrom | Van Benthem-Driessen-Hanveld-Syndrom |
| es | Síndrome de criptorquidia-aracnodactilia-discapacidad intelectual | Síndrome de Van Benthem-Driessen-Hanveld |
| it | Sindrome da criptorchidismo - aracnodattilia - disabilità intellettiva | Sindrome di Van Benthem-Driessen-Hanveld |
| nl | Cryptorchidie - arachnodactylie - intellectuele achterstand-syndroom | Syndroom van Van Benthem-Driessen-Hanveld |
| pt | Síndrome de criptorquidia-aracnodactilia-perturbação do desenvolvimento intelectual | Síndrome Van Bentham-Driessen-Hanveld |
| pl | Wnętrostwo - arachnodaktylia - niepełnosprawność intelektualna | Zespół Van Benthem, Driessena i Hanvelda |
| cs | Syndrom zahrnující kryptorchismus, arachnodaktylii a mentální retardaci | Van Benthemův-Driessenův-Haneveldův syndrom · Van Benthem-Driessen-Haneveldův syndrom |
| uk | Синдром крипторхізму-арахнодактилії-інтелектуальної недостатності | Синдром Ван Бентема-Дріссена-Ганвельда |
| zh | 隐睾-蜘蛛指-智力障碍综合征 | Van Benthem-Driessen-Hanveld综合征 |
| tr | Kriptorşidi-araknodaktili-zihinsel yetersizlik sendromu | Van Benthem-Driessen-Hanveld sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0015473 | E | validated | |
| UMLS | C4707233 | E | validated | |
| GARD | 860 | 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: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 - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic 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 | 3 cases | Worldwide | Case(s) | Validated | 4394203[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_4394203[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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0001166 | Arachnodactyly | |
| HP:0000268 | Dolichocephaly | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0000768 | Pectus carinatum | |
| HP:0002650 | Scoliosis | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0000035 | Abnormal testis morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001608 | Abnormality of the voice | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000047 | Hypospadias | |
| HP:0001387 | Joint stiffness | |
| HP:0002205 | Recurrent respiratory infections | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1548
- This record as JSON: /data/d/1548.json