4q21 microdeletion syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Monosomy 4q21
Del(4)(q21)
Number of Symptoms 53
OrphanetNr: 238750
OMIM Id: 613509
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 long arm of chromosome 4
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
2
 (HPO:0000499) Abnormality of the eyelashes Occasional [Orphanet] 35 / 7739
3
 (HPO:0000322) Short philtrum Frequent [Orphanet] 130 / 7739
4
 (HPO:0000164) Abnormality of the teeth Occasional [Orphanet] 291 / 7739
5
 (HPO:0000348) High forehead Occasional [Orphanet] 157 / 7739
6
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
7
 (HPO:0002007) Frontal bossing Frequent [Orphanet] 366 / 7739
8
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
9
 (HPO:0005105) Abnormal nasal morphology Occasional [Orphanet] 114 / 7739
10
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
11
 (HPO:0000233) Thin vermilion border Occasional [Orphanet] 124 / 7739
12
 (HPO:0002714) Downturned corners of mouth Frequent [Orphanet] 98 / 7739
13
 (HPO:0000293) Full cheeks Frequent [Orphanet] 85 / 7739
14
 (HPO:0000664) Synophrys Occasional [Orphanet] 112 / 7739
15
 (HPO:0000239) Large fontanelles Occasional [Orphanet] 135 / 7739
16
 (HPO:0000508) Ptosis Occasional [Orphanet] 459 / 7739
17
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
18
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
19
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
20
 (HPO:0000717) Autism Occasional [Orphanet] 108 / 7739
21
 (HPO:0001337) Tremor Occasional [Orphanet] 200 / 7739
22
 (HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
23
 (HPO:0002360) Sleep disturbance Occasional [Orphanet] 113 / 7739
24
 (HPO:0001263) Global developmental delay 853 / 7739
25
 (HPO:0000733) Stereotypy Occasional [Orphanet] 58 / 7739
26
 (HPO:0002167) Neurological speech impairment Very frequent [Orphanet] 308 / 7739
27
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
28
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
29
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
30
 (HPO:0002983) Micromelia Frequent [Orphanet] 130 / 7739
31
 (HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
32
 (HPO:0001773) Short foot Frequent [Orphanet] 86 / 7739
33
 (HPO:0001770) Toe syndactyly Occasional [Orphanet] 149 / 7739
34
 (HPO:0200055) Small hand Frequent [Orphanet] 71 / 7739
35
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
36
 (HPO:0008897) Postnatal growth retardation 113 / 7739
37
 (HPO:0001511) Intrauterine growth retardation Occasional [Orphanet] 358 / 7739
38
 (HPO:0008850) Severe postnatal growth retardation 16 / 7739
39
 (HPO:0011362) Abnormal hair quantity Occasional [Orphanet] 92 / 7739
40
 (HPO:0003220) Abnormality of chromosome stability Very frequent [Orphanet] 98 / 7739
41
 (HPO:0010547) Muscle flaccidity 466 / 7739
42
 (HPO:0001324) Muscle weakness 859 / 7739
43
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
44
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
45
 (HPO:0001317) Abnormality of the cerebellum 36 / 7739
46
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
47
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
48
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
49
 (OMIM) Ventricular dilation 1 / 7739
50
 (HPO:0006872) Cerebral hypoplasia 7 / 7739
51
 (OMIM) Absent or delayed speech 2 / 7739
52
 (OMIM) Contiguous gene deletion syndrome 23 / 7739
53
 (HPO:0002119) Ventriculomegaly Occasional [Orphanet] 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Harada et al. (2002) described a 6.7-year-old Japanese girl with severe postnatal short stature, dolichocephaly, hypertelorism, long philtrum, small mouth, defect of bilateral lower incisors, pathologic attrition of all teeth, bilateral sensorineural deafness with bilateral ear canal stenosis, ...