16p11.2p12.2 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Monosomy 16p11.2p12.2
Del(16)(p11.2p12.2)
16p11.2-p12.2 microdeletion syndrome
Monosomy 16p11.2-p12.2
Number of Symptoms 63
OrphanetNr: 261211
OMIM Id: 613604
ICD-10: Q93.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Partial deletion of the short arm of chromosome 16
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0005105) Abnormal nasal morphology Occasional [Orphanet] 114 / 7739
2
 (HPO:0000490) Deeply set eye Frequent [Orphanet] 131 / 7739
3
 (HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
4
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
5
 (HPO:0000276) Long face Occasional [Orphanet] 109 / 7739
6
 (HPO:0000194) Open mouth Frequent [Orphanet] 70 / 7739
7
 (HPO:0012368) Flat face Frequent [Orphanet] 106 / 7739
8
 (HPO:0000347) Micrognathia 426 / 7739
9
 (HPO:0000348) High forehead Occasional [Orphanet] 157 / 7739
10
 (HPO:0000463) Anteverted nares Occasional [Orphanet] 305 / 7739
11
 (HPO:0000601) Hypotelorism Occasional [Orphanet] 83 / 7739
12
 (HPO:0000218) High palate 356 / 7739
13
 (HPO:0003196) Short nose Occasional [Orphanet] 264 / 7739
14
 (HPO:0000202) Oral cleft Occasional [Orphanet] 120 / 7739
15
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
16
 (HPO:0000414) Bulbous nose 63 / 7739
17
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
18
 (HPO:0000286) Epicanthus Frequent [Orphanet] 371 / 7739
19
 (HPO:0000445) Wide nose Occasional [Orphanet] 190 / 7739
20
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
21
 (HPO:0000365) Hearing impairment Occasional [Orphanet] rare [HPO:skoehler] 539 / 7739
22
 (HPO:0000358) Posteriorly rotated ears 163 / 7739
23
 (HPO:0000389) Chronic otitis media Very frequent [Orphanet] 64 / 7739
24
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
25
 (HPO:0000369) Low-set ears 372 / 7739
26
 (HPO:0007021) Pain insensitivity Frequent [Orphanet] 35 / 7739
27
 (HPO:0002360) Sleep disturbance Occasional [Orphanet] 113 / 7739
28
 (HPO:0001263) Global developmental delay 853 / 7739
29
 (HPO:0001249) Intellectual disability 1089 / 7739
30
 (HPO:0002167) Neurological speech impairment Frequent [Orphanet] 308 / 7739
31
 (HPO:0000733) Stereotypy Occasional [Orphanet] 58 / 7739
32
 (HPO:0100851) Abnormal emotion/affect behavior Frequent [Orphanet] 85 / 7739
33
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
34
 (HPO:0000954) Single transverse palmar crease Frequent [Orphanet] 162 / 7739
35
 (HPO:0009623) Proximal placement of thumb Occasional [Orphanet] 50 / 7739
36
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 149 / 7739
37
 (HPO:0012385) Camptodactyly 113 / 7739
38
 (HPO:0004279) Short palm Occasional [Orphanet] 323 / 7739
39
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
40
 (HPO:0011968) Feeding difficulties 240 / 7739
41
 (HPO:0002577) Abnormality of the stomach Very frequent [Orphanet] 84 / 7739
42
 (HPO:0004322) Short stature Frequent [Orphanet] rare [HPO:skoehler] 1232 / 7739
43
 (HPO:0001511) Intrauterine growth retardation rare [HPO:skoehler] 358 / 7739
44
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
45
 (HPO:0000957) Cafe-au-lait spot Frequent [Orphanet] 84 / 7739
46
 (HPO:0001702) Abnormality of the tricuspid valve Occasional [Orphanet] 32 / 7739
47
 (HPO:0011675) Arrhythmia Occasional [Orphanet] 226 / 7739
48
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
49
 (HPO:0002104) Apnea Occasional [Orphanet] 106 / 7739
50
 (HPO:0001324) Muscle weakness 859 / 7739
51
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
52
 (HPO:0010547) Muscle flaccidity 466 / 7739
53
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
54
 (MedDRA:10058668) Clinodactyly 91 / 7739
55
 (OMIM) No autism 1 / 7739
56
 (OMIM) Severe speech impairment 1 / 7739
57
 (OMIM) Recurrent ear infections 3 / 7739
58
 (OMIM) Congenital cardiac defects (less common) 1 / 7739
59
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
60
 (OMIM) Small eyes 3 / 7739
61
 (HPO:0003812) Phenotypic variability 129 / 7739
62
 (HPO:0030084) Clinodactyly 90 / 7739
63
 (MedDRA:10072883) Brachydactyly 153 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The chromosome 16p12.2-p11.2 deletion syndrome is characterized phenotypically by dysmorphic facial features, feeding difficulties, recurrent ear infections, developmental delay, and cognitive impairment. Additional features, such as heart defects and short stature, are variable (Ballif et al., 2007; Battaglia ...
Clinical Description OMIM Hernando et al. (2002) reported the first case of multiple congenital anomalies associated with a de novo interstitial deletion of band 16p11.2 confirmed by array comparative genomic hybridization (CGH). Ultrasound examination at age 20 weeks' gestation showed cardiac ...