ORPHA:261229

14q11.2 microduplication syndrome

Synonyms: Dup(14)(q11.2) · Trisomy 14q11.2

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

14q11.2 microduplication syndrome is a rare chromosomal anomaly characterized by developmental delay, mild to severe intellectual disability with speech impairment and epilepsy. Additionally, it may include dysmorphic features (such as hypo- or hypertelorism, dysplastic ears, short palpebral fissures), microcephaly or macrocephaly, behavioral abnormalities, stereotyped hand movements, ataxia, hypotonia, cleft palate.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	14q11.2 microduplication syndrome	Dup(14)(q11.2) · Trisomy 14q11.2
fr	Syndrome de microduplication 14q11.2	Dup(14)(q11.2) · Trisomie 14q11.2
de	Mikroduplikationssyndrom 14q11.2	Dup(14)(q11.2) · Trisomie 14q11.2
es	Síndrome de microduplicación 14q11.2	Dup(14)(q11.2) · Trisomía 14q11.2
it	Sindrome da microduplicazione 14q11.2	Dup(14)(q11.2) · Trisomia 14q11.2
nl	14q11.2-microduplicatiesyndroom	Dup(14)(q11.2) · Trisomie 14q11.2
pt	Síndrome de microduplicação 14q11.2	Trissomia 14q11.2
pl	Zespół mikroduplikacji 14q11.2	Dup(14)(q11.2) · Trisomia 14q11.2
cs	Syndrom mikroduplikace 14q11.2	Dup(14)(q11.2) · Trizomie 14q11.2
uk	Синдром мікродуплікації 14q11.2	Dup(14)(q11.2) · Трисомія 14q11.2
zh	染色体14q11.2微重复综合征	14q11.2三体
tr	14q11.2 mikroduplikasyon sendromu	Dup (14) (q11.2) · Trizomi 14q11.2

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
ICD-10	Q92.3	NTBT	attributed	validated
ICD-11	LD41.D	NTBT	index	validated
MONDO	0016835	E		validated
UMLS	C4749855	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:262941Partial duplication of the long arm of chromosome 14 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

Genes

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
CHD8	Role in the phenotype of	Assessed	HGNC:20153	ENSG00000100888	610528	14q11.2	chromodomain helicase DNA binding protein 8	31823155[PMID]_26834018[PMID]
SUPT16H	Role in the phenotype of	Assessed	HGNC:11465	ENSG00000092201	605012	14q11.2	SPT16 homolog, facilitates chromatin remodeling subunit	31823155[PMID]_26834018[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		7 cases	Worldwide	Case(s)	Validated	20736978[PMID]
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.

HPO phenotypes

24 annotations · validated 2023-02-07

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000750	Delayed speech and language development
HP:0012758	Neurodevelopmental delay
Frequent (79-30%)
HP:0000718	Aggressive behavior
HP:0007018	Attention deficit hyperactivity disorder
HP:0001290	Generalized hypotonia
HP:0001249	Intellectual disability
HP:0000252	Microcephaly
HP:0001513	Obesity
HP:0002591	Polyphagia
Occasional (29-5%)
HP:0000956	Acanthosis nigricans
HP:0000717	Autism
HP:0005280	Depressed nasal bridge
HP:0000286	Epicanthus
HP:0002263	Exaggerated cupid's bow
HP:0008872	Feeding difficulties in infancy
HP:0002553	Highly arched eyebrow
HP:0000666	Horizontal nystagmus
HP:0000316	Hypertelorism
HP:0000821	Hypothyroidism
HP:0000347	Micrognathia
HP:0001250	Seizure
HP:0002360	Sleep abnormality
HP:0001350	Slurred speech
HP:0000431	Wide nasal bridge

Run the differential on the 2 obligate / very frequent terms

Annotation source: 31823155[PMID]_26834018[PMID]_17545556[PMID]_32529320[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/261229
This record as JSON: /data/d/261229.json