ORPHA:284169
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Synonyms: 10p12p11 microdeletion syndrome · Del(10)(p11.21p12.31) · Deletion 10p11.21p12.31 · Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion · Monosomy 10p11.21p12.31
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy
- Status
- active
A rare, genetic syndromic intellectual disability characterized by developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior (autistic, aggressive, hyperactive) and dysmorphic facial features, including synophrys or thick eyebrows, deep set eyes, bulbous nasal tip and full cheeks. Congenital heart and brain anomalies, visual and hearing impairment are also common.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion | 10p12p11 microdeletion syndrome · Del(10)(p11.21p12.31) · Deletion 10p11.21p12.31 · Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion · Monosomy 10p11.21p12.31 |
| fr | Syndrome de dysmorphie faciale-retard de développement-troubles du comportement dû à une microdélétion 10p11.21p12.31 | Del(10)(p11.21p12.31) · Délétion 10p11.21p12.31 · Monosomie 10p11.21p12.31 · Syndrome Desanto-Shinawi dû à une microdélétion 10p11.21p12.31 · Syndrome de microdélétion 10p12p11 |
| de | Gesichtsdysmorphie-Entwicklungsverzögerung-Verhaltensstörungen-Syndrom durch Mikrodeletionssyndrom 10p11.21p12.31 | Del(10)(p11.21p12.31) · Deletion 10p11.21p12.31 · Mikrodeletionssyndrom 10p12p11 · Monosomie 10p11.21p12.31 |
| es | Síndrome de dismorfia facial-retraso del desarrollo-trastornos de conducta por microdeleción 10p11.21p12.31 | Del(10)(p11.21p12.31) · Deleción 10p11.21p12.31 · Monosomía 10p11.21p12.31 · Síndrome de microdeleción 10p12p11 |
| it | Sindrome da dismorfismi facciali, ritardo dello sviluppo, anomalie del comportamento, da microdelezione 10p11.21p12.31 | |
| nl | Faciale dysmorfie - ontwikkelingsachterstand - gedragsstoornissen-syndroom door 10p11.21p12.31-microdeletie | 10p12p11-microdeletiesyndroom · Deletie 10p11.21p12.31 · Monosomie 10p11.21p12.31 · del(10)(p11.21p12.31) |
| pt | Síndrome de dismorfia facial-perturbação do desenvolvimento-anomalias do comportamento por microdeleção 10p11.21p12.31 | Del(10)(p11.21p12.31) · Deleção 10p11.21p12.31 · Monossomia 10p11.21p12.31 · Síndrome de microdeleção 10p12p11 |
| pl | Zespół dysmorfii twarzy, opóźnienia rozwoju i zaburzeń zachowania spowodowany mikrodelecją 10p11.21p12.31 | Del(10)(p11.21p12.31) · Delecja 10p11.21p12.31 · Monosomia 10p11.21p12.31 · Zespół mikrodelecji 10p12p11 |
| cs | Mikrodeleční syndrom 10p11.21p12.31 | Syndrom mikrodelece 10p12p11 · Del(10)(p11.21p12.31) · Delece 10p11.21p12.31 · Monozomie 10p11.21p12.31 |
| uk | Синдром дисморфізму обличчя - затримки розвитку - поведінкових аномалій внаслідок мікроделеції 10p11.21p12.31 | Синдром мікроделеції 10p12p11 · Del(10)(p11.21p12.31) · Делеція 10p11.21p12.31 · Синдром Десанто-Шинаві внаслідок мікроделеції 10p11.21p12.31 · Моносомія 10p11.21p12.31 |
| zh | 10p11.21p12.31微缺失所致面部畸形-发育迟缓-行为异常综合征 | 10p12p11微缺失综合征 |
| tr | 10p11.21p12.31 mikrodelesyonuna bağlı yüz dismorfizmi-gelişme geriliği-davranışsal anormallikler sendromu | Del(10)(p11.21p12.31) · Delesyon 10p11.21p12.31 · Monozomi 10p11.21p12.31 · 10p12p11 mikrodelesyon sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 616708 | NTBT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD44.A1 | NTBT | index | validated |
| MONDO | 0017283 | E | validated | |
| UMLS | C5190804 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:261938Partial deletion of the short arm of chromosome 10 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - 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 | Role in the phenotype of | Assessed | HGNC:17327 | ENSG00000095787 | 615049 | 10p12.1 | WW domain containing adaptor with coiled-coil | 21522184[PMID]_26264232[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29663678[PMID] |
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 29663678[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.
6
HPO phenotypes
46 annotations · validated 2020-09-15| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0012443 | Abnormality of brain morphology | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000708 | Atypical behavior | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001270 | Motor delay | |
| HP:0000505 | Visual impairment | |
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0000739 | Anxiety | |
| HP:0000483 | Astigmatism | |
| HP:0002019 | Constipation | |
| HP:0011968 | Feeding difficulties | |
| HP:0000293 | Full cheeks | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0001250 | Seizure | |
| HP:0012745 | Short palpebral fissure | |
| HP:0002360 | Sleep abnormality | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0010800 | Absent cupid's bow | |
| HP:0000646 | Amblyopia | |
| HP:0000729 | Autistic behavior | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0000414 | Bulbous nose | |
| HP:0002608 | Celiac disease | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000453 | Choanal atresia | |
| HP:0000567 | Chorioretinal coloboma | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000490 | Deeply set eye | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000365 | Hearing impairment | |
| HP:0000540 | Hypermetropia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000545 | Myopia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0011220 | Prominent forehead | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0003196 | Short nose | |
| HP:0000664 | Synophrys | |
| HP:0001714 | Ventricular hypertrophy | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 9 obligate / very frequent terms
Annotation source: 21522184[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284169
- This record as JSON: /data/d/284169.json