Monosomy 5p

General Information (adopted from Orphanet):

Synonyms, Signs: CAT CRY SYNDROME
CHROMOSOME 5p DELETION SYNDROME
Cri du chat syndrome
Deletion 5p
Number of Symptoms 85
OrphanetNr: 281
OMIM Id: 123450
ICD-10: Q93.4
UMLs: C0010314
C2931860
MeSH: C538482
D003410
MedDRA: 10011385
Snomed: 70173007

Prevalence, inheritance and age of onset:

Prevalence: 4 of 100 000 [Orphanet]
Inheritance: Unknown
Not applicable
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Chromosomal anomaly with cataract
 -Rare eye disease
 -Rare genetic disease
Partial deletion of the short arm of chromosome 5
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Syndrome with a symptomatic strabismus
 -Rare eye disease
 -Rare genetic disease
Syndromic epicanthus
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000047) Hypospadias 16953888 IBIS 250 / 7739
2
 (HPO:0000077) Abnormality of the kidney 73 / 7739
3
 (HPO:0000028) Cryptorchidism 16953888 IBIS 347 / 7739
4
 (HPO:0000308) Microretrognathia 20038906 IBIS 78 / 7739
5
 (HPO:0000273) Facial grimacing 8957962 IBIS 6 / 7739
6
 (HPO:0000470) Short neck Frequent [Orphanet] 345 / 7739
7
 (HPO:0000336) Prominent supraorbital ridges 16953888 IBIS 45 / 7739
8
 (HPO:0000193) Bifid uvula 66 / 7739
9
 (HPO:0000324) Facial asymmetry 57 / 7739
10
 (HPO:0009102) Anterior open-bite malocclusion 16953888 IBIS 5 / 7739
11
 (HPO:0000322) Short philtrum 16953888 IBIS 130 / 7739
12
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
13
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
14
 (HPO:0000218) High palate 20038906 IBIS 356 / 7739
15
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 1695388 IBIS 290 / 7739
16
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
17
 (HPO:0000311) Round face Very frequent [Orphanet] 104 / 7739
18
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
19
 (HPO:0000276) Long face 16953888 IBIS 109 / 7739
20
 (HPO:0000179) Thick lower lip vermilion 16953888 IBIS 72 / 7739
21
 (HPO:0000202) Oral cleft 20038906 IBIS 120 / 7739
22
 (HPO:0000275) Narrow face 16953888 IBIS 76 / 7739
23
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
24
 (HPO:0000286) Epicanthus Very frequent [Orphanet] 371 / 7739
25
 (HPO:0002714) Downturned corners of mouth 16953888 IBIS 98 / 7739
26
 (HPO:0000545) Myopia 286 / 7739
27
 (HPO:0000648) Optic atrophy 238 / 7739
28
 (HPO:0000518) Cataract 20038906 IBIS 454 / 7739
29
 (HPO:0000486) Strabismus 576 / 7739
30
 (HPO:0000357) Abnormal location of ears Very frequent [Orphanet] 328 / 7739
31
 (HPO:0010780) Hyperacusis 20038906 IBIS 5 / 7739
32
 (HPO:0000365) Hearing impairment 20038906 IBIS 539 / 7739
33
 (HPO:0000369) Low-set ears 372 / 7739
34
 (HPO:0000377) Abnormality of the pinna 111 / 7739
35
 (HPO:0000384) Preauricular skin tag Occasional [Orphanet] 16953888 IBIS 62 / 7739
36
 (HPO:0000402) Stenosis of the external auditory canal 20038906 IBIS 22 / 7739
37
 (HPO:0000733) Stereotypy 11869383 IBIS 58 / 7739
38
 (HPO:0000739) Anxiety 20038906 IBIS 67 / 7739
39
 (HPO:0100024) Conspicuously happy disposition 8957962 IBIS 5 / 7739
40
 (HPO:0000750) Delayed speech and language development 10355811 IBIS 197 / 7739
41
 (HPO:0001276) Hypertonia 20038906 IBIS 317 / 7739
42
 (HPO:0010529) Echolalia 8957962 IBIS 20 / 7739
43
 (HPO:0000752) Hyperactivity 140 / 7739
44
 (HPO:0000718) Aggressive behavior 11869383 IBIS 109 / 7739
45
 (HPO:0002355) Difficulty walking 8957962 IBIS 61 / 7739
46
 (HPO:0000736) Short attention span 20038906 IBIS 16 / 7739
47
 (HPO:0001249) Intellectual disability 1089 / 7739
48
 (HPO:0000717) Autism 18564888 IBIS 108 / 7739
49
 (HPO:0100025) Overfriendliness 8957962 IBIS 1 / 7739
50
 (HPO:0000742) Self-mutilation 8957962 IBIS 27 / 7739
51
 (HPO:0010865) Oppositional defiant disorder 8957962 IBIS 2 / 7739
52
 (HPO:0010049) Short metacarpal 16953888 IBIS 99 / 7739
53
 (HPO:0000954) Single transverse palmar crease 162 / 7739
54
 (HPO:0001840) Metatarsus adductus 49 / 7739
55
 (HPO:0011849) Abnormal bone ossification Occasional [Orphanet] 35 / 7739
56
 (HPO:0200055) Small hand Frequent [Orphanet] 71 / 7739
57
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
58
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
59
 (HPO:0006101) Finger syndactyly Occasional [Orphanet] 198 / 7739
60
 (HPO:0001042) High axial triradius 4 / 7739
61
 (HPO:0001159) Syndactyly 16953888 IBIS 140 / 7739
62
 (HPO:0010743) Short metatarsal 16953888 IBIS 56 / 7739
63
 (HPO:0001763) Pes planus 176 / 7739
64
 (HPO:0002659) Increased susceptibility to fractures Occasional [Orphanet] 110 / 7739
65
 (HPO:0002020) Gastroesophageal reflux 16953888 IBIS 101 / 7739
66
 (HPO:0008872) Feeding difficulties in infancy 16953888 IBIS 153 / 7739
67
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
68
 (HPO:0001540) Diastasis recti 16953888 IBIS 23 / 7739
69
 (HPO:0000023) Inguinal hernia 181 / 7739
70
 (HPO:0001518) Small for gestational age 107 / 7739
71
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
72
 (HPO:0001510) Growth delay 295 / 7739
73
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
74
 (HPO:0002216) Premature graying of hair 16953888 IBIS 43 / 7739
75
 (HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
76
 (HPO:0001608) Abnormality of the voice Very frequent [Orphanet] 126 / 7739
77
 (HPO:0200046) Cat cry 1695388 IBIS 1 / 7739
78
 (HPO:0002795) Functional respiratory abnormality 20038906 IBIS 13 / 7739
79
 (HPO:0005437) Recurrent infections in infancy and early childhood 16953888 IBIS 2 / 7739
80
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
81
 (HPO:0001319) Neonatal hypotonia 101 / 7739
82
 (HPO:0003745) Sporadic 131 / 7739
83
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
84
 (HPO:0001428) Somatic mutation Very frequent [Orphanet] 100 / 7739
85
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving ...
Clinical Description OMIM Cri-du-chat syndrome is characterized in young children by microcephaly, round face, hypertelorism, micrognathia, epicanthal folds, low-set ears, hypotonia, and severe psychomotor and mental retardation. One of the most characteristic features in newborns is a high-pitched cat-like cry that ...
Molecular genetics OMIM Overhauser et al. (1994) analyzed the 5p deletion breakpoints in 49 individuals using somatic cell hybrids. They used 5p-specific DNA probes to unambiguously order most of the chromosomal breakpoints present by hybridization to somatic cell hybrid DNA. Comparisons ...
Population genetics OMIM The cri-du-chat syndrome appears to be one of the most common human deletion syndromes, with an incidence varying between 1 in 20,000 to 1 in 50,000 births (Niebuhr, 1978). The frequency in populations of profoundly retarded patients (IQ ...