ORPHA:96148
Distal deletion 10q syndrome
Synonyms: Deletion 10qter · Distal monosomy 10q · Monosomy 10qter · Telomeric deletion 10q
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
Distal monosomy 10q is a chromosomal anomaly involving terminal deletion of the long arm of chromosome 10 and is characterized by facial dysmorphism, pre- and postnatal growth retardation, cardiac and genital anomalies, and developmental delay.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal deletion 10q syndrome | Deletion 10qter · Distal monosomy 10q · Monosomy 10qter · Telomeric deletion 10q |
| fr | Syndrome de délétion distale 10q | Délétion 10qter · Délétion télomérique 10q · Monosomie 10qter · Monosomie distale 10q · Monosomie télomérique 10q |
| de | Distale Deletion 10q | Deletion 10q, distale · Deletion 10qter · Distale Monosomie 10q · Monosomie 10qter · Telomere Deletion 10q |
| es | Síndrome de deleción terminal 10q | Deleción 10qter · Monosomía 10qter · Monosomía terminal 10q |
| it | Sidnrome delezione 10q distale | Delezione 10q telomerica · Delezione 10qter · Monosomia 10q distale · Monosomia 10qter |
| nl | Distale deletie 10q-syndroom | Deletie 10qter · Distale monosomie 10q · Monosomie 10qter · Telomerische deletie 10q |
| pt | Deleção distal 10q | Deleção 10qter · Deleção telomérica 10q · Monossomia 10qter · Monossomia distal 10q |
| pl | Zespół delecji dystalnej 10q | Delecja dystalna 10q · Delecja telomerowa 10q · Monosomia 10qter |
| cs | Distální monozomie 10q | Distální delece 10q · Monozomie 10qter · Telomerická delece 10q |
| uk | Дистальна делеція 10q | Делеція 10qter · Дистальна моносомія 10q · Моносомія 10qter · Делеція теломерної ділянки 10q |
| zh | 10号染色体长臂远端单体 | 10号染色体长臂端粒缺失 |
| tr | Distal monozomi 10q | Monozomi 10qter · Distal delesyon 10q · Telomerik delesyon 10q |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609625 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.A0 | NTBT | index | validated |
| MONDO | 0012315 | E | validated | |
| UMLS | C4305277 | E | validated | |
| GARD | 3711 | 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 (1):
- ORPHA:262083Partial deletion of the long arm of chromosome 10 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EBF3 | Role in the phenotype of | Assessed | HGNC:19087 | ENSG00000108001 | 607407 | 10q26.3 | EBF transcription factor 3 | 35340043[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
92 annotations · validated 2019-10-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000750 | Delayed speech and language development | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001328 | Specific learning disability | |
| Frequent (79-30%) | ||
| HP:0000356 | Abnormality of the outer ear | |
| HP:0000708 | Atypical behavior | |
| HP:0030084 | Clinodactyly | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0000805 | Enuresis | |
| HP:0001508 | Failure to thrive | |
| HP:0008947 | Floppy infant | |
| HP:0002395 | Lower limb hyperreflexia | |
| HP:0002465 | Poor speech | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002719 | Recurrent infections | |
| HP:0000486 | Strabismus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0005709 | 2-3 toe cutaneous syndactyly | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0000718 | Aggressive behavior | |
| HP:0000483 | Astigmatism | |
| HP:0001631 | Atrial septal defect | |
| HP:0007018 | Attention deficit hyperactivity disorder | |
| HP:0001156 | Brachydactyly | |
| HP:0002389 | Cavum septum pellucidum | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0002169 | Clonus | |
| HP:0008527 | Congenital sensorineural hearing impairment | |
| HP:0000286 | Epicanthus | |
| HP:0000324 | Facial asymmetry | |
| HP:0001349 | Facial diplegia | |
| HP:0011968 | Feeding difficulties | |
| HP:0000218 | High palate | |
| HP:0000085 | Horseshoe kidney | |
| HP:0007068 | Inferior vermis hypoplasia | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0000657 | Oculomotor apraxia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001763 | Pes planus | |
| HP:0008081 | Pes valgus | |
| HP:0007010 | Poor fine motor coordination | |
| HP:0001622 | Premature birth | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000448 | Prominent nose | |
| HP:0001852 | Sandal gap | |
| HP:0001250 | Seizure | |
| HP:0010743 | Short metatarsal | |
| HP:0004322 | Short stature | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0002360 | Sleep abnormality | |
| HP:0000319 | Smooth philtrum | |
| HP:0001257 | Spasticity | |
| HP:0001182 | Tapered finger | |
| HP:0002317 | Unsteady gait | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000076 | Vesicoureteral reflux | |
| Very rare (<4-1%) | ||
| HP:0001919 | Acute kidney injury | |
| HP:0002023 | Anal atresia | |
| HP:0000739 | Anxiety | |
| HP:0001251 | Ataxia | |
| HP:0000248 | Brachycephaly | |
| HP:0000337 | Broad forehead | |
| HP:0008554 | Cochlear malformation | |
| HP:0001363 | Craniosynostosis | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002007 | Frontal bossing | |
| HP:0000009 | Functional abnormality of the bladder | |
| HP:0002827 | Hip dislocation | |
| HP:0001385 | Hip dysplasia | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0000601 | Hypotelorism | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0011376 | Morphological abnormality of the vestibule of the inner ear | |
| HP:0000341 | Narrow forehead | |
| HP:0000767 | Pectus excavatum | |
| HP:0001212 | Prominent fingertip pads | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000520 | Proptosis | |
| HP:0000411 | Protruding ear | |
| HP:0003691 | Scapular winging | |
| HP:0003196 | Short nose | |
| HP:0003298 | Spina bifida occulta | |
| HP:0000325 | Triangular face | |
| HP:0000349 | Widow's peak | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 28432728[PMID]_19558528[PMID]_19253379[PMID]_14598339[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96148
- This record as JSON: /data/d/96148.json