ORPHA:261211

16p11.2p12.2 microdeletion syndrome

Synonyms: Del(16)(p11.2p12.2) · Monosomy 16p11.2p12.2

16p11.2-p12.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay and facial dysmorphism.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	16p11.2p12.2 microdeletion syndrome	Del(16)(p11.2p12.2) · Monosomy 16p11.2p12.2
fr	Syndrome de microdélétion 16p11.2p12.2	Del(16)(p11.2p12.2) · Monosomie 16p11.2p12.2
de	Mikrodeletionssyndrom 16p11.2p12.2	Del(16)(p11.2p12.2) · Monosomie 16p11.2p12.2
es	Síndrome de microdeleción 16p11.2p12.2	Del(16)(p11.2p12.2) · Monosomía 16p11.2p12.2
it	Sindrome da microdelezione 16p11.2p12.2	Del(16)(p11.2p12.2) · Monosomia 16p11.2-p12.2 · Monosomia 16p11.2p12.2 · Sindrome da microdelezione 16p11.2-p12.2
nl	16p11.2p12.2-microdeletiesyndroom	Del(16)(p11.2p12.2) · Monosomie 16p11.2p12.2
pt	Síndrome de microdeleção 16p11.2p12.2
pl	Zespół mikrodelecji 16p11.2p12.2	Del(16)(p11.2p12.2) · Monosomia 16p11.2p12.2 · Monosomia 16p11.2-p12.2 · Zespół mikrodelecji 16p11.2-p12.2
cs	Syndrom mikrodelece 16p11.2p12.2	Del(16)(p11.2p12.2) · Monozomie 16p11.2-p12.2 · Monozomie 16p11.2p12.2 · 16p11.2-p12.2 mikrodeleční syndrom
uk	Синдром мікроделеції 16p11.2p12.2	Del(16)(p11.2p12.2) · Моносомія 16p11.2p12.2
zh	染色体16p11.2p12.2微缺失综合征	16p11.2p12.2单体
tr	16p11.2p12.2 mikrodelesyon sendromu	Del (16) (p11.2p12.2) · Monozomi 16p11.2p12.2

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	613604	E		validated
ICD-10	Q93.5	NTBT	attributed	validated
ICD-11	LD44.G1	NTBT	index	validated
MONDO	0013320	E		validated
UMLS	C4304597	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:261956Partial deletion of the short arm of chromosome 16 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases

No children.

0 direct

Orphanet records no gene directly on this code.

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		8 cases	Worldwide	Case(s)	Validated	24259393[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_24259393[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.

43 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000389	Chronic otitis media
HP:0000494	Downslanted palpebral fissures
HP:0011968	Feeding difficulties
HP:0002020	Gastroesophageal reflux
HP:0001263	Global developmental delay
HP:0002342	Intellectual disability, moderate
HP:0001511	Intrauterine growth retardation
Frequent (79-30%)
HP:0000377	Abnormal pinna morphology
HP:0007598	Bilateral single transverse palmar creases
HP:0000581	Blepharophimosis
HP:0100490	Camptodactyly of finger
HP:0000490	Deeply set eye
HP:0000750	Delayed speech and language development
HP:0000286	Epicanthus
HP:0012368	Flat face
HP:0002007	Frontal bossing
HP:0000752	Hyperactivity
HP:0001252	Hypotonia
HP:0007328	Impaired pain sensation
HP:0000369	Low-set ears
HP:0000308	Microretrognathia
HP:0007565	Multiple cafe-au-lait spots
HP:0000194	Open mouth
HP:0004322	Short stature
HP:0001770	Toe syndactyly
Occasional (29-5%)
HP:0005285	Absent nasal bridge
HP:0000463	Anteverted nares
HP:0011675	Arrhythmia
HP:0000414	Bulbous nose
HP:0000365	Hearing impairment
HP:0000348	High forehead
HP:0000601	Hypotelorism
HP:0000276	Long face
HP:0003189	Long nose
HP:0000202	Orofacial cleft
HP:0009623	Proximal placement of thumb
HP:0003196	Short nose
HP:0004279	Short palm
HP:0002360	Sleep abnormality
HP:0010535	Sleep apnea
HP:0000486	Strabismus
HP:0100033	Tics
HP:0005180	Tricuspid regurgitation

Annotation source: 19676056[PMID]_12011165[PMID]