ORPHA:96149
Distal deletion 12q syndrome
Synonyms: Distal monosomy 12q · Monosomy 12qter · Telomeric deletion 12q
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare partial deletion of the long arm of chromosome 12 characterized by variable combinations of developmental delay, intellectual disability, behavioral abnormalities, variable dysmorphic facial features (including microcephalus, coarse face, synophrys, epicanthal folds, large bulbous nose, small ears, low-set and posteriorly rotated ears, or large tongue, among others), and other anomalies such as malformations of the hands and fingers/feet and toes, skin and nail abnormalities, and genitourinary and cardiac abnormalities, among others.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal deletion 12q syndrome | Distal monosomy 12q · Monosomy 12qter · Telomeric deletion 12q |
| fr | Syndrome de délétion distale 12q | Délétion 12qter · Délétion télomérique 12q · Monosomie 12qter · Monosomie distale 12q · Monosomie télomérique 12q |
| de | Distale Deletion 12q | Deletion 12q, distale · Distale Monosomie 12q · Monosomie 12qter · Telomere Deletion 12q |
| es | Síndrome de deleción terminal 12q | Monosomía 12qter · Monosomía terminal 12q |
| it | Sindrome delezione 12q distale | Monosomia 12q distale · Delezione 12q telomerica · Monosomia 12qter |
| nl | Distale deletie 12q-syndroom | Distale monosomie 12q · Monosomie 12qter · Telomerische deletie 12q |
| pt | Deleção distal 12q | Deleção telomérica 12q · Monossomia 12qter · Monossomia distal 12q |
| pl | Zespół delecji dystalnej 12q | Delecja dystalna 12q · Delecja telomerowa 12q · Monosomia 12qter |
| cs | Distální monozomie 12q | Distální delece 12q · Monozomie 12qter · Telomerická delece 12q |
| uk | Дистальна делеція 12q | Дистальна моносомія 12q · Моносомія 12qter · Делеція теломерної ділянки 12q |
| zh | 12号染色体长臂远端单体 | 12号染色体长臂端粒缺失 |
| tr | Distal monozomi 12q | Monozomi 12qter · Distal delesyon 12q · Telomerik delesyon 12q |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.C0 | NTBT | index | validated |
| MONDO | 0019897 | E | validated | |
| UMLS | C5438460 | 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:261821Partial deletion of the long arm of chromosome 12 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
0 recordsNo prevalence record in this release.
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HPO phenotypes
76 annotations · validated 2019-02-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Occasional (29-5%) | ||
| HP:0004691 | 2-3 toe syndactyly | |
| HP:0001999 | Abnormal facial shape | |
| HP:0001734 | Annular pancreas | |
| HP:0000463 | Anteverted nares | |
| HP:0009437 | Aplasia/Hypoplasia of the middle phalanx of the 3rd finger | |
| HP:0008513 | Bilateral conductive hearing impairment | |
| HP:0005912 | Biliary atresia | |
| HP:0000248 | Brachycephaly | |
| HP:0010055 | Broad hallux | |
| HP:0006533 | Bronchodysplasia | |
| HP:0000414 | Bulbous nose | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000280 | Coarse facial features | |
| HP:0005129 | Congenital hypertrophy of left ventricle | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000819 | Diabetes mellitus | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002247 | Duodenal atresia | |
| HP:0000086 | Ectopic kidney | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0002032 | Esophageal atresia | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0002213 | Fine hair | |
| HP:0012368 | Flat face | |
| HP:0002007 | Frontal bossing | |
| HP:0001290 | Generalized hypotonia | |
| HP:0010818 | Generalized tonic seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0008499 | High hypermetropia | |
| HP:0002705 | High, narrow palate | |
| HP:0000126 | Hydronephrosis | |
| HP:0000752 | Hyperactivity | |
| HP:0001611 | Hypernasal speech | |
| HP:0007328 | Impaired pain sensation | |
| HP:0001249 | Intellectual disability | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0002003 | Large forehead | |
| HP:0001176 | Large hands | |
| HP:0007573 | Late onset atopic dermatitis | |
| HP:0001833 | Long foot | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0004904 | Maturity-onset diabetes of the young | |
| HP:0000161 | Median cleft lip | |
| HP:0000252 | Microcephaly | |
| HP:0000171 | Microglossia | |
| HP:0000347 | Micrognathia | |
| HP:0000054 | Micropenis | |
| HP:0008551 | Microtia | |
| HP:0001513 | Obesity | |
| HP:0008770 | Obsessive-compulsive trait | |
| HP:0001845 | Overlapping toe | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0008081 | Pes valgus | |
| HP:0002893 | Pituitary adenoma | |
| HP:0000113 | Polycystic kidney dysplasia | |
| HP:0009904 | Prominent ear helix | |
| HP:0011407 | Proportionate tall stature | |
| HP:0002021 | Pyloric stenosis | |
| HP:0000742 | Self-mutilation | |
| HP:0005819 | Short middle phalanx of finger | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0001792 | Small nail | |
| HP:0000319 | Smooth philtrum | |
| HP:0011069 | Supernumerary tooth | |
| HP:0000506 | Telecanthus | |
| HP:0009891 | Underdeveloped supraorbital ridges | |
| HP:0012741 | Unilateral cryptorchidism | |
| HP:0000076 | Vesicoureteral reflux | |
| HP:0000260 | Wide anterior fontanel | |
Annotation source: 12121357[PMID]_12687666[PMID]_16200635[PMID]_21457577[PMID]_23613162[PMID]_25425063[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/96149
- This record as JSON: /data/d/96149.json