Weiss-Kruszka Syndrome
Synonyms: Metopic ridging-ptosis-facial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome with variable intellectual disability characterized by abnormal head shape/metopic ridging and facial dysmorphism (which may include arched eyebrows, ptosis, downslanting palpebral fissures, epicanthal folds, and short upturned nose). Many patients present variable global developmental delay and/or autism spectrum disorder. Additional reported features are cardiac, skeletal, or urogenital anomalies. Brain imaging may show agenesis of the corpus callosum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Weiss-Kruszka Syndrome | Metopic ridging-ptosis-facial dysmorphism syndrome |
| fr | Syndrome de Weiss-Kruszka | Syndrome d'épaississement de la suture métopique-ptosis-dysmorphie faciale |
| de | Weiss-Kruszka-Syndrom | Metopicaleiste-Ptosis-Gesichtsdysmorphie-Syndrom |
| es | Síndrome de Weiss-Kruszka | Síndrome de cresta metópica-ptosis-dismorfia facial |
| it | Sindrome di Weiss-Kruszka | Sindrome ispessimento della sutura metopica-ptosi-dismorfismi facciali |
| nl | Syndroom van Weiss-Kruszka | Metopica-richel - ptosis - faciale dysmorfie-syndroom · Richel van voorhoofdsnaad - ptosis - faciale dysmorfie-syndroom |
| pt | Sindrome Weiss-Kruszka | Síndrome de cavalgamento metópico-ptose-dismorfia facial |
| pl | Zespół wydatnego grzebienia kości czołowej, opadania powiek i dysmorfii twarzy | = en |
| cs | Syndrom zahrnující metopický hřeben, ptózu a faciální dysmorfismus | = en |
| uk | Синдром Вайса-Крушки | Синдром метопічного гребеня-птозу-дизморфізму обличчя |
| zh | 额部隆起-上睑下垂-面部畸形综合征 | |
| tr | Metopik sırt-pitoz-fasiyal dismorfizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618619 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0044715 | E | validated | |
| MONDO | 32836 | E | validated | |
| MONDO | 44715 | E | validated | |
| UMLS | C5568107 | 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:98578Rare disorder with ptosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ZNF462 | Disease-causing germline mutation(s) in | Assessed | HGNC:21684 | ENSG00000148143 | 617371 | 9q31.2 | zinc finger protein 462 | 28513610[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 28513610[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28513610[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 2023-10-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000508 | Ptosis | |
| Frequent (79-30%) | ||
| HP:0000356 | Abnormality of the outer ear | |
| HP:0000729 | Autistic behavior | |
| HP:0000289 | Broad philtrum | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0011968 | Feeding difficulties | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001252 | Hypotonia | |
| HP:0001270 | Motor delay | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0005274 | Prominent nasal tip | |
| HP:0003196 | Short nose | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0040064 | Abnormality of limbs | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0006989 | Dysplastic corpus callosum | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0000369 | Low-set ears | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0033454 | Tube feeding | |
| Very rare (<4-1%) | ||
| HP:0009623 | Proximal placement of thumb | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 31670927[PMID]_31361404[PMID]_28513610[PMID]_36568367[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/502430
- This record as JSON: /data/d/502430.json