ORPHA:466950
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Synonyms: Desanto-Shinawi syndrome due to WAC point mutation
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Childhood, Infancy
- Status
- active
Orphadata ships no English definition for this code.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | Desanto-Shinawi syndrome due to WAC point mutation |
| fr | Syndrome de dysmorphie faciale-retard de développement-troubles du comportement dû à une mutation ponctuelle de WAC | Syndrome Desanto-Shinawi dû à une mutation ponctuelle de WAC |
| de | Gesichtsdysmorphie-Entwicklungsverzögerung-Verhaltensstörungen-Syndrom durch Punktmutation im WAC-Gen | |
| es | Síndrome de dismorfia facial-retraso del desarrollo-trastornos de conducta por una mutación puntual en el gen WAC | |
| it | Sindrome dismorfismi facciali - ritardo dello sviluppo - anomalie del comportamento da mutazione di WAC | |
| nl | Faciale dysmorfie - ontwikkelingsachterstand - gedragsstoornissen-syndroom door puntmutatie in WAC | |
| pt | Síndrome de dismorfia facial-perturbação do desenvolvimento-perturbações do comportamento devidas a mutação pontual em WAC | |
| pl | Zespół dysmorfii twarzy, opóźnienia w rozwoju i zaburzeń zachowania spowodowany mutacją WAC | = en |
| cs | Faciální dysmorfismus, opoždění vývoje a poruchy chování v důsledku bodové mutace v genu WAC | = en |
| uk | Синдром дисморфізму обличчя-затримки розвитку-поведінкових аномалій, зумовлений точковими мутаціями WAC | Синдром Десанто-Шинаві внаслідок мутації точки WAC |
| zh | WAC突变引起的面部畸形-发育迟缓-行为异常综合征 | |
| tr | WAC nokta mutasyonuna bağlı yüz dismorfizmi-gelişme geriliği-davranışsal anormallikler sendromu |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616708 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014741 | E | validated | |
| UMLS | C5681129 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:466943WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WAC | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17327 | ENSG00000095787 | 615049 | 10p12.1 | WW domain containing adaptor with coiled-coil | 26264232[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 27119754[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27119754[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.
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HPO phenotypes
68 annotations · validated 2020-09-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000708 | Atypical behavior | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001270 | Motor delay | |
| Frequent (79-30%) | ||
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0000504 | Abnormality of vision | |
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0002019 | Constipation | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0002360 | Sleep abnormality | |
| HP:0000321 | Square face | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0002793 | Abnormal pattern of respiration | |
| HP:0000539 | Abnormality of refraction | |
| HP:0005288 | Abnormality of the nares | |
| HP:0001344 | Absent speech | |
| HP:0000718 | Aggressive behavior | |
| HP:0100702 | Arachnoid cyst | |
| HP:0002099 | Asthma | |
| HP:0000729 | Autistic behavior | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0012076 | Borderline personality disorder | |
| HP:0001156 | Brachydactyly | |
| HP:0009794 | Branchial anomaly | |
| HP:0011822 | Broad chin | |
| HP:0000337 | Broad forehead | |
| HP:0000455 | Broad nasal tip | |
| HP:0000414 | Bulbous nose | |
| HP:0000490 | Deeply set eye | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0100581 | Dilatation of renal calices | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0000286 | Epicanthus | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000365 | Hearing impairment | |
| HP:0001007 | Hirsutism | |
| HP:0000316 | Hypertelorism | |
| HP:0003186 | Inverted nipples | |
| HP:0000637 | Long palpebral fissure | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0001513 | Obesity | |
| HP:0000125 | Pelvic kidney | |
| HP:0001763 | Pes planus | |
| HP:0008081 | Pes valgus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000395 | Prominent antihelix | |
| HP:0001212 | Prominent fingertip pads | |
| HP:0011220 | Prominent forehead | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0100716 | Self-injurious behavior | |
| HP:0004279 | Short palm | |
| HP:0011171 | Simple febrile seizure | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0001956 | Truncal obesity | |
| HP:0011147 | Typical absence seizure | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000572 | Visual loss | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
| HP:0012704 | Widened subarachnoid space | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 29190062[PMID]_26264232[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466950
- This record as JSON: /data/d/466950.json