Intellectual disability, Wolff type
Synonyms: Wolff-Zimmermann syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Intellectual disability, Wolff type is a rare intellectual disability syndrome characterized by severe intellectual disability, characteristic facial features (low anterior hairline, upward slanting palpebral fissures, ocular hypertelorism, broad, bulbous nose, large ears with helix incompletely developed, thick lips, and micrognathia) and additional anomalies including peripheral joint contractures, delayed skeletal maturation, bilateral cleft lip and palate, strabismus, terminal hypoplasia of fingers, hypospadias, and bilateral inguinal hernias.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability, Wolff type | Wolff-Zimmermann syndrome |
| fr | Déficience intellectuelle type Wolff | Syndrome de Wolff-Zimmermann |
| de | Intelligenzminderung Typ Wolff | Wolff-Zimmermann-Syndrom |
| es | Discapacidad intelectual tipo Wolff | Síndrome de Wolff-Zimmermann |
| it | Disabilità intellettiva, tipo Wolff | Sindrome di Wolff-Zimmermann |
| nl | Intellectuele achterstand, Wolff-type | Syndroom van Wolff-Zimmermann |
| pt | Perturbação do desenvolvimento intelectual, tipo Wolff | Síndrome Wolff-Zimmermann |
| pl | Niepełnosprawność intelektualna typu Wolffa | Zespół Wolffa i Zimmermanna |
| cs | Mentální retardace, Wolffův typ | Wolffův-Zimmermannův syndrom · Wolff-Zimmermannův syndrom |
| uk | Інтелектуальна недостатність, тип Вольфа | Синдром Вольфа-Ціммермана |
| zh | 智力障碍，Wolff亚型 | Wolff-Zimmermann综合征 |
| tr | Zihinsel yetersizlik, Wolff tipi | Wolff-Zimmermann sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 277990 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010203 | E | validated | |
| MeSH | C537448 | E | validated | |
| UMLS | C1848439 | 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 (2):
- 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 | 2 cases | Worldwide | Case(s) | Validated | 8151642[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8151642[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
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000414 | Bulbous nose | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001176 | Large hands | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0002162 | Low posterior hairline | |
| HP:0000400 | Macrotia | |
| HP:0000308 | Microretrognathia | |
| HP:0011344 | Severe global developmental delay | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0002242 | Abnormal intestine morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0011304 | Broad thumb | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0008559 | Hypoplastic superior helix | |
| HP:0000023 | Inguinal hernia | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| HP:0000202 | Orofacial cleft | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000340 | Sloping forehead | |
| HP:0000486 | Strabismus | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3080
- This record as JSON: /data/d/3080.json