CHROMOSOME 16q22 DELETION SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 33
OrphanetNr:
OMIM Id: 614541
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000286) Epicanthus 371 / 7739
2
(HPO:0005280) Depressed nasal bridge 381 / 7739
3
(HPO:0000260) Wide anterior fontanel 55 / 7739
4
(HPO:0000470) Short neck 345 / 7739
5
(HPO:0000218) High palate 356 / 7739
6
(HPO:0000431) Wide nasal bridge 290 / 7739
7
(HPO:0000348) High forehead 157 / 7739
8
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
9
(HPO:0002007) Frontal bossing 366 / 7739
10
(HPO:0000581) Blepharophimosis 197 / 7739
11
(HPO:0000316) Hypertelorism 644 / 7739
12
(HPO:0002645) Wormian bones 65 / 7739
13
(HPO:0000347) Micrognathia 426 / 7739
14
(HPO:0000369) Low-set ears 372 / 7739
15
(HPO:0000358) Posteriorly rotated ears 163 / 7739
16
(HPO:0000377) Abnormality of the pinna 111 / 7739
17
(HPO:0001263) Global developmental delay 853 / 7739
18
(HPO:0006610) Wide intermamillary distance 46 / 7739
19
(HPO:0000774) Narrow chest 167 / 7739
20
(HPO:0002033) Poor suck 37 / 7739
21
(HPO:0008897) Postnatal growth retardation 113 / 7739
22
(HPO:0001508) Failure to thrive 454 / 7739
23
(HPO:0001518) Small for gestational age 107 / 7739
24
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
25
(HPO:0010547) Muscle flaccidity 466 / 7739
26
(HPO:0001252) Muscular hypotonia 990 / 7739
27
(HPO:0001324) Muscle weakness 859 / 7739
28
(OMIM) Contiguous gene deletion syndrome 23 / 7739
29
(OMIM) Low birth length 2 / 7739
30
(OMIM) Flexed fingers 3 / 7739
31
(OMIM) Broad first toe 3 / 7739
32
(OMIM) Diastasis of cranial sutures 1 / 7739
33
(HPO:0012745) Short palpebral fissure 47 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The interstitial 16q22 deletion syndrome is a multiple congenital anomaly disorder associated with failure to thrive in infancy, poor growth, delayed psychomotor development, hypotonia, and dysmorphic features, including large anterior fontanel, high forehead, diastasis of the cranial sutures, ...
Clinical Description OMIM Fryns et al. (1977) reported an infant with an interstitial 16q21 deletion associated with craniofacial anomalies, cranial suture diastasis, and a narrow thorax who died at age 1 month of pneumonia. Postmortem examination showed intestinal malrotation and a ...