ORPHA:466943
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Synonyms: DESSH · Desanto-Shinawi syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable, Unknown
- Age of onset
- Childhood, Infancy
- Status
- active
A rare, genetic, syndromic intellectual disability characterised by several dysmorphic features, hypotonia, developmental delay, intellectual disability, behavioral problems, visual and hearing abnormalities, constipation, and feeding difficulties. Common dysmorphic features include coarse facies, broad forehead, synophrys, bushy eyebrows, deep-set eyes, downslanting palpebral fissures, epicanthus, depressed nasal bridge, bulbous nasal tip, posteriorly rotated ears, full cheeks, thin upper lip, inverted nipples, and hirsutism. Behavioral problems tend to be dominated by ADHD, but anxiety, aggressive outbursts and autistic features may also present.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome | DESSH · Desanto-Shinawi syndrome |
| fr | Syndrome de dysmorphie faciale-retard de développement-troubles du comportement associé à WAC | Syndrome Desanto-Shinawi |
| de | WAC-assoziiertes Syndrom der Gesichtsdysmorphie mit Entwicklungsverzögerung und Verhaltensstörungen | DESSH · Desanto-Shinawi-Syndrom |
| es | Síndrome de dismorfia facial-retraso del desarrollo-trastornos de conducta asociado al gen WAC | Síndrome de Desanto-Shinawi |
| it | Sindrome dismorfismi facciali-ritardo dello sviluppo-anomalie del comportamento correlata a WAC | DESSH · Sindrome di Desanto-Shinawi |
| nl | WAC-gerelateerd faciale dysmorfie - ontwikkelingsachterstand - gedragsstoornissen-syndroom | DESSH · Syndroom van Desanto-Shinawi |
| pt | Síndrome de dismorfia facial-perturbação do desenvolvimento-perturbação comportamental WAC-relacionada | DESSH · Síndrome Desanto-Shinawi |
| pl | Zespół dysmorfii twarzy, opóźnienia w rozwoju i zaburzeń zachowania związany z WAC | = en |
| cs | Syndrom WAC asociovaného faciálního dysmorfismu, opožděného vývoje a behaviorální abnormalit | = en |
| uk | Синдром дисморфізму обличчя-затримки розвитку-поведінкових відхилень, повязаного з WAC | Синдром Десанто-Шинаві · DESSH |
| zh | WAC相关面部畸形-发育迟缓-行为异常综合征 | |
| tr | WAC-ilişkili fasiyal dismorfizmi-gelişme geriliği-davranışsal anormallikler sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616708 | BTNT | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0018760 | E | validated | |
| UMLS | C4225239 | 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 (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
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Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| WAC | ORPHA:466950Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation | 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] |
| WAC | ORPHA:284169Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | Role in the phenotype of | Assessed | HGNC:17327 | ENSG00000095787 | 615049 | 10p12.1 | WW domain containing adaptor with coiled-coil | 21522184[PMID]_26264232[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 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
70 annotations · validated 2020-01-06| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000708 | Atypical behavior | |
| HP:0008947 | Floppy infant | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| Frequent (79-30%) | ||
| HP:0000356 | Abnormality of the outer ear | |
| HP:0000504 | Abnormality of vision | |
| HP:0001344 | Absent speech | |
| HP:0000739 | Anxiety | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0002019 | Constipation | |
| HP:0010862 | Delayed fine motor development | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0011968 | Feeding difficulties | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0030190 | Oral motor hypotonia | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| HP:0000321 | Square face | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0002099 | Asthma | |
| HP:0000483 | Astigmatism | |
| HP:0000729 | Autistic behavior | |
| HP:0001156 | Brachydactyly | |
| HP:0011822 | Broad chin | |
| HP:0000455 | Broad nasal tip | |
| HP:0000414 | Bulbous nose | |
| HP:0100704 | Cerebral visual impairment | |
| HP:0000490 | Deeply set eye | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0000286 | Epicanthus | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000316 | Hypertelorism | |
| HP:0006889 | Intellectual disability, borderline | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0003186 | Inverted nipples | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000545 | Myopia | |
| HP:0030863 | Nasal flaring | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0001513 | Obesity | |
| HP:0002370 | Poor coordination | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000395 | Prominent antihelix | |
| HP:0011220 | Prominent forehead | |
| HP:0002719 | Recurrent infections | |
| HP:0100716 | Self-injurious behavior | |
| HP:0000664 | Synophrys | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
| HP:0012704 | Widened subarachnoid space | |
| Very rare (<4-1%) | ||
| HP:0100702 | Arachnoid cyst | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0100581 | Dilatation of renal calices | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0000125 | Pelvic kidney | |
| HP:0001763 | Pes planus | |
| HP:0008081 | Pes valgus | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004279 | Short palm | |
| HP:0000954 | Single transverse palmar crease | |
Run the differential on the 5 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/466943
- This record as JSON: /data/d/466943.json