Hypospadias-intellectual disability, Goldblatt type syndrome
Synonyms: Goldblatt-Wallis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with microcephaly, craniofacial dysmorphism, joint laxity and beaked nails.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hypospadias-intellectual disability, Goldblatt type syndrome | Goldblatt-Wallis syndrome |
| fr | Syndrome d'hypospadias-déficience intellectuelle type Goldblatt | Syndrome de Goldblatt-Wallis |
| de | Hypospadie mit Intelligenzminderung Typ Goldblatt | Goldblatt-Wallis-Syndrom |
| es | Síndrome de hipospadias-discapacidad intelectual tipo Goldblatt | Síndrome de Goldblatt-Wallis |
| it | Ipospadia - disabilità intellettiva, tipo Goldblatt | Sindrome di Goldblatt-Wallis |
| nl | Hypospadie - intellectuele achterstand-syndroom, Goldblatt-type | Syndroom van Goldblatt-Wallis |
| pt | Síndrome de hipospadias-perturbação do desenvolvimento intelectual, tipo Goldblatt | Síndrome Goldblatt-Wallis |
| pl | Spodziectwo - niepełnosprawność intelektualna typu Goldblatta | Zespół Goldblatta i Wallisa |
| cs | Syndrom zahrnující hypospadii a mentální retardaci, Goldblattův typ | Goldblattův-Wallisův syndrom · Goldblatt-Wallisův syndrom |
| uk | Гіпоспадія - інтелектуальна недостатність, синдром Голдблатта | Синдром Гольдблатта-Уолліса |
| zh | 小儿尿道下裂-智力障碍Goldblatt型综合征 | Goldblatt-Wallis 综合征 |
| tr | Hipospadias-zihinsel yetersizlik, Goldblatt tipi sendrom | Goldblatt-Wallis sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 241760 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009435 | E | validated | |
| UMLS | C4274844 | E | validated | |
| GARD | 2928 | 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: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:165707Syndromic urogenital tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital 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 | 3673966[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3673966[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
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001387 | Joint stiffness | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0001231 | Abnormal fingernail morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0008388 | Abnormal toenail morphology | |
| HP:0000444 | Convex nasal ridge | |
| HP:0011800 | Midface retrusion | |
| HP:0000396 | Overfolded helix | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000664 | Synophrys | |
| HP:0000243 | Trigonocephaly | |
| Occasional (29-5%) | ||
| HP:0004209 | Clinodactyly of the 5th finger | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2261
- This record as JSON: /data/d/2261.json