Distal deletion 15q syndrome
Synonyms: 15q26 deletion syndrome · Distal monosomy 15q · Monosomy 15q26 · Telomeric 15q deletion syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal monosomy 15q is a rare chromosomal anomaly syndrome characterized by pre- and postnatal growth restriction, developmental delay, variable degrees of intellectual disability, hand and foot anomalies (e.g. brachy-/clinodactyly, talipes equinovarus, nail hypoplasia, proximally placed digits) and mild craniofacial dysmorphism (incl. microcephaly, triangular face, broad nasal bridge, micrognathia). Neonatal lymphedema, heart malformations, aplasia cutis congenita, aortic root dilatation, and autistic spectrum disorder have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal deletion 15q syndrome | 15q26 deletion syndrome · Distal monosomy 15q · Monosomy 15q26 · Telomeric 15q deletion syndrome |
| fr | Syndrome de délétion distale 15q | Monosomie 15q26 · Monosomie distale 15q · Syndrome de délétion 15q26 · Syndrome de délétion télomérique 15q |
| de | Distale Deletion 15q | 15q26-Deletionssyndrom · Distale Monosomie 15q · Monosomie 15q26 · Telomeres 15q-Deletionssyndrom |
| es | Síndrome de deleción terminal 15q | Monosomía 15q26 · Monosomía terminal 15q · Síndrome de deleción 15q26 |
| it | Sindrome delezione 15q distale | Monosomia 15q distale · Monosomia 15q26 · Sindrome delezione 15q telomerica · Sindrome delezione 15q26 |
| nl | Distale deletie 15q-syndroom | 15q26-deletiesyndroom · Distale monosomie 15q · Monosomie 15q26 · Telomerische 15q-deletiesyndroom |
| pt | Deleção distal 15q | Monossomia 15q26 · Síndrome de deleção 15q26 · Síndrome de deleção telomérica 15q |
| pl | Zespół delecji dystalnej 15q | Delecja 15q26 · Zespół delecji 15q26 · Zespół dystalnej delecji 15q26 · Zespół telomerowej delecji 15q26 · Delecja telomerowa 15q |
| cs | Distální monozomie 15q | Syndrom delece 15q26 · Distální delece 15q syndrom · Monozomie 15q26 · Telomerická delece 15q syndrom |
| uk | Дистальна делеція 15q | Синдром делеції 15q26 · Дистальна моносомія 15q · Моносомія 15q26 · Синдром делеції теломерної ділянки 15q |
| zh | 远端单倍体15q | 末端着丝粒15q26缺失综合征 |
| tr | Distal monozomi 15q | Monozomi 15q26 · 15q26 delesyon sendromu · Distal 15q delesyon sendromu · Telomerik 15q delesyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612626 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.F | NTBT | index | validated |
| MONDO | 0012964 | E | validated | |
| UMLS | C4707662 | 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 (1):
- ORPHA:262119Partial deletion of the long arm of chromosome 15 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MCTP2 | Role in the phenotype of | Assessed | HGNC:25636 | ENSG00000140563 | 616297 | 15q26.2 | multiple C2 and transmembrane domain containing 2 | 23773997[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 22065603[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22065603[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
59 annotations · validated 2017-08-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001518 | Small for gestational age | |
| Frequent (79-30%) | ||
| HP:0005709 | 2-3 toe cutaneous syndactyly | |
| HP:0012303 | Abnormal aortic arch morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0000729 | Autistic behavior | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0010297 | Bifid tongue | |
| HP:0000581 | Blepharophimosis | |
| HP:0000455 | Broad nasal tip | |
| HP:0000175 | Cleft palate | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000280 | Coarse facial features | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000028 | Cryptorchidism | |
| HP:0030353 | Decreased serum insulin-like growth factor 1 | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001508 | Failure to thrive | |
| HP:0040019 | Finger clinodactyly | |
| HP:0005469 | Flat occiput | |
| HP:0002761 | Generalized joint hypermobility | |
| HP:0002857 | Genu valgum | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0000365 | Hearing impairment | |
| HP:0002827 | Hip dislocation | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0030918 | Low 1-minute APGAR score | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000054 | Micropenis | |
| HP:0001718 | Mitral stenosis | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0001250 | Seizure | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0009381 | Short finger | |
| HP:0000322 | Short philtrum | |
| HP:0004322 | Short stature | |
| HP:0200055 | Small hand | |
| HP:0001792 | Small nail | |
| HP:0000486 | Strabismus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000325 | Triangular face | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0100542 | Abnormal localization of kidney | |
| HP:0004471 | Aplasia cutis congenita over the scalp vertex | |
| HP:0000476 | Cystic hygroma | |
| HP:0011651 | Double outlet right ventricle with doubly committed ventricular septal defect and pulmonary stenosis | |
| HP:0004383 | Hypoplastic left heart | |
| HP:0011560 | Mitral atresia | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0001195 | Single umbilical artery | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 17702015[PMID]_1849352[PMID]_20962017[PMID]_27192887[PMID]_16114049[PMID]_18512227[PMID]_23603061[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1596
- This record as JSON: /data/d/1596.json