ORPHA:1723

Mosaic trisomy 2 syndrome

Synonyms: Mosaic trisomy chromosome 2 · Trisomy 2 mosaicism

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

Mosaic trisomy 2 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by intrauterine growth restriction, growth and motor delay, craniofacial dysmorphism (e.g. microcephaly, hypertelorism, micro/anophthalmia, midface hypoplasia, cleft lip/palate), congenital heart and neural tube defects, as well as various skeletal (e.g. scoliosis, radioulnar hypoplasia, preaxial polydactyly) and gastrointestinal (e.g. intestinal malrotation, Hirschsprung disease) anomalies. Central nervous system malformations (including ventriculomegaly, thin corpus callosum, spina bifida) have also been reported.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Mosaic trisomy 2 syndrome	Mosaic trisomy chromosome 2 · Trisomy 2 mosaicism
fr	Syndrome de trisomie 2 en mosaïque
de	Mosaik-Trisomie 2	Mosaik-Trisomie Chromosom 2
es	Síndrome de trisomía 2 en mosaico	Trisomía del cromosoma 2 en mosaico
it	Trisomia 2 in mosaico	Trisomia 2 in mosaico · Sindrome trisomia 2 in mosaico
nl	Mozaïektrisomie 2-syndroom	Mozaïektrisomie chromosoom 2 · Trisomie 2 mozaïcisme
pt	Trissomia 2 em mosaico
pl	Zespół mozaikowej trisomii chromosomu 2	= en
cs	Mozaika trizomie 2	= en
uk	Мозаїчна трисомія 2	Мозаїчна трисомія хромосоми 2 · Трисомія 2 мозаїцизм
zh	2号染色体嵌合三体	2号染色体嵌合三体
tr	Mozaik trizomi 2	Trizomi 2 mozaisizmi · Mozaik trizomi kromozomu 2

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	0015763	E		validated
UMLS	C4707010	E		validated
GARD	5331	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:98131Total autosomal trisomy 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
Cases/families		22 cases	Worldwide	Case(s)	Validated	23276565[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_23276565[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

24 annotations · validated 2025-04-23

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0002194	Delayed gross motor development
HP:0100790	Hernia
HP:0000316	Hypertelorism
HP:0001511	Intrauterine growth retardation
HP:0000252	Microcephaly
HP:0011800	Midface retrusion
HP:0001562	Oligohydramnios
HP:0008897	Postnatal growth retardation
Occasional (29-5%)
HP:0001627	Abnormal heart morphology
HP:0002251	Aganglionic megacolon
HP:0410030	Cleft lip
HP:0000175	Cleft palate
HP:0000268	Dolichocephaly
HP:0002984	Hypoplasia of the radius
HP:0003022	Hypoplasia of the ulna
HP:0002566	Intestinal malrotation
HP:0000568	Microphthalmia
HP:0045005	Neural tube defect
HP:0012758	Neurodevelopmental delay
HP:0001177	Preaxial hand polydactyly
HP:0002650	Scoliosis
HP:0002414	Spina bifida
HP:0033725	Thin corpus callosum
HP:0002119	Ventriculomegaly

Annotation source: 32855656[PMID]_23276565[PMID]_21416586[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/1723
This record as JSON: /data/d/1723.json