Mosaic trisomy 1 syndrome
Synonyms: Mosaic trisomy chromosome 1 · Trisomy 1 mosaicism
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
A rare autosomal trisomy, characterized by reduced fetal movements and intrauterine growth retardation, low birth weight, and multiple congenital anomalies. The latter include, amongst others, facial dysmorphism (like hypertelorism, cleft lip/palate, micrognathia, low hairline, and small, low-set, and posteriorly rotated ears), head circumference below average, deformities of the hands (camptodactyly) and feet, marked hypertrichosis, and anomalies of the brain, heart, and lungs. Lethality appears to depend on the degree of mosaicism.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mosaic trisomy 1 syndrome | Mosaic trisomy chromosome 1 · Trisomy 1 mosaicism |
| fr | Syndrome de trisomie 1 en mosaïque | |
| de | Mosaik-Trisomie 1 | Mosaik-Trisomie Chromosom 1 |
| es | Síndrome de trisomía 1 en mosaico | Trisomía del cromosoma 1 en mosaico |
| it | Sindrome trisomia 1 in mosaico | Trisomia 1 in mosaico · Trisomia del cromosoma 1 in mosaico |
| nl | Mozaïektrisomie 1-syndroom | Mozaïektrisomie chromosoom 1 · Trisomie 1 mozaïcisme |
| pt | Trissomia 1 em mosaico | |
| pl | Zespół mozaikowej trisomii chromosomu 1 | = en |
| cs | Mozaiková forma trizomie 1 | = en |
| uk | Мозаїчна трисомія 1 | Мозаїчна трисомія хромосоми 1 · Трисомія 1 мозаїчність |
| zh | 1号染色体嵌合三倍体 | 嵌合1号染色体三体 |
| tr | Mozaik trizomi 1 | Trizomi 1 mozaisizmi · Mozaik trizomi kromozomu 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q92.1 | NTBT | attributed | validated |
| ICD-11 | LD40.Y | NTBT | attributed | validated |
| MONDO | 0015706 | E | validated | |
| UMLS | C5394675 | 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:98131Total autosomal trisomy syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 8835327[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8835327[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
60 annotations · validated 2019-01-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Occasional (29-5%) | ||
| HP:0001233 | 2-3 finger syndactyly | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0001032 | Absent distal interphalangeal creases | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0001166 | Arachnodactyly | |
| HP:0100040 | Broad 2nd toe | |
| HP:0001837 | Broad toe | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001320 | Cerebellar vermis hypoplasia | |
| HP:0000175 | Cleft palate | |
| HP:0001680 | Coarctation of aorta | |
| HP:0000280 | Coarse facial features | |
| HP:0009943 | Complete duplication of thumb phalanx | |
| HP:0007911 | Congenital bilateral ptosis | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0010344 | Deviation of the 5th toe | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0002280 | Enlarged cisterna magna | |
| HP:0000324 | Facial asymmetry | |
| HP:0040019 | Finger clinodactyly | |
| HP:0002007 | Frontal bossing | |
| HP:0001188 | Hand clenching | |
| HP:0100839 | Hepatic agenesis | |
| HP:0012553 | Hypoplastic thumbnail | |
| HP:0010880 | Increased nuchal translucency | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0045086 | Knee joint hypermobility | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0010511 | Long toe | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0000054 | Micropenis | |
| HP:0000568 | Microphthalmia | |
| HP:0000308 | Microretrognathia | |
| HP:0001539 | Omphalocele | |
| HP:0007759 | Opacification of the corneal stroma | |
| HP:0000202 | Orofacial cleft | |
| HP:0003244 | Penile hypospadias | |
| HP:0001561 | Polyhydramnios | |
| HP:0002126 | Polymicrogyria | |
| HP:0007291 | Posterior fossa cyst | |
| HP:0004935 | Pulmonary artery atresia | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000803 | Renal cortical cysts | |
| HP:0000107 | Renal cyst | |
| HP:0001838 | Rocker bottom foot | |
| HP:0000188 | Short upper lip | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0001195 | Single umbilical artery | |
| HP:0000237 | Small anterior fontanelle | |
| HP:0001792 | Small nail | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0002943 | Thoracic scoliosis | |
| HP:0001770 | Toe syndactyly | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
Annotation source: 28437579[PMID]_21145991[PMID]_23933412[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1692
- This record as JSON: /data/d/1692.json