ORPHA:261344

Trisomy 1q syndrome

Synonyms: Duplication 1q

Type: Malformation syndrome
Group: Disorder
Age of onset: Antenatal, Neonatal
Status: active

Trisomy 1q is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 1, with a highly variable phenotype principally characterized by intellectual disability, short stature, craniofacial dysmorphism (incl. macro/microcephaly, prominent forehead, posteriorly rotated, low-set ears, abnormal palpebral fissures, microphthalmia, broad, flat nasal bridge, high-arched palate, micro/retrognathia), cardiac defects and urogenital anomalies. Patients may also present cerebral (e.g. ventriculomegaly) and gastrointestinal malformations, as well as dystonic tremor and recurrent respiratory tract infections.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Trisomy 1q syndrome	Duplication 1q
fr	Syndrome de trisomie 1q	= en
de	Trisomie 1q	Duplikation 1q
es	Síndrome de trisomía 1q	Duplicación 1q
it	Sindrome trisomia 1q	Duplicazione 1q · Duplicazione 1q in mosaico
nl	Trisomie 1q-syndroom	Duplicatie 1q
pt	Trissomia 1q em mosaico
pl	Zespół trisomii 1q	Duplikacja 1q
cs	Trizomie 1q	Duplikace 1q
uk	Трисомія 1q	Дуплікація 1q
zh	1号染色体长臂三体	1号染色体长臂重复
tr	Trizomi 1q	Duplikasyon 1q

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q92.2	NTBT	attributed	validated
MONDO	0016847	E		validated
UMLS	C4708596	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):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:262833Partial duplication of the long arm of chromosome 1 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_28437579[PMID]
Cases/families		18 cases	Worldwide	Case(s)	Validated	28437579[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

42 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0005280	Depressed nasal bridge
HP:0000369	Low-set ears
HP:0000445	Wide nose
Frequent (79-30%)
HP:0000528	Anophthalmia
HP:0001166	Arachnodactyly
HP:0100490	Camptodactyly of finger
HP:0000476	Cystic hygroma
HP:0002007	Frontal bossing
HP:0010880	Increased nuchal translucency
HP:0001833	Long foot
HP:0000308	Microretrognathia
HP:0000003	Multicystic kidney dysplasia
HP:0000160	Narrow mouth
HP:0001561	Polyhydramnios
HP:0002119	Ventriculomegaly
Occasional (29-5%)
HP:0000772	Abnormal rib morphology
HP:0000356	Abnormality of the outer ear
HP:0001274	Agenesis of corpus callosum
HP:0000062	Ambiguous genitalia
HP:0002023	Anal atresia
HP:0008386	Aplasia/Hypoplasia of the nails
HP:0001321	Cerebellar hypoplasia
HP:0000175	Cleft palate
HP:0000776	Congenital diaphragmatic hernia
HP:0008676	Congenital megaureter
HP:0000028	Cryptorchidism
HP:0000494	Downslanted palpebral fissures
HP:0000238	Hydrocephalus
HP:0000126	Hydronephrosis
HP:0001789	Hydrops fetalis
HP:0000316	Hypertelorism
HP:0001800	Hypoplastic toenails
HP:0000601	Hypotelorism
HP:0000256	Macrocephaly
HP:0001539	Omphalocele
HP:0001643	Patent ductus arteriosus
HP:0001177	Preaxial hand polydactyly
HP:0010306	Short thorax
HP:0000046	Small scrotum
HP:0001770	Toe syndactyly
HP:0001629	Ventricular septal defect
HP:0006610	Wide intermamillary distance

Run the differential on the 3 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/261344
This record as JSON: /data/d/261344.json