De Barsy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Progeroid syndrome, De Barsy type
Cutis laxa - corneal clouding - intellectual deficit
Number of Symptoms 72
OrphanetNr: 2962
OMIM Id: 219150
614438
ICD-10: Q87.8
UMLs: C0268354
MeSH: C535990
MedDRA:
Snomed: 238826008
59252009

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Cataract associated with a metabolic disease
 -Rare eye disease
 -Rare genetic disease
Cutis laxa
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease
 -Rare surgical thoracic disease
Disorder of proline metabolism
 -Rare genetic disease
Malformation syndrome with skin/mucosae involvement
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Metabolic disease with cataract
 -Rare eye disease
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease
Premature aging
 -Rare genetic disease
 -Rare skin disease
Rare hereditary metabolic disease with peripheral neuropathy
 -Rare genetic disease
 -Rare neurologic disease
Syndromic corneal dystrophy
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism rare [HPO:skoehler] 347 / 7739
2
 (HPO:0000366) Abnormality of the nose Frequent [Orphanet] 56 / 7739
3
 (HPO:0000316) Hypertelorism 644 / 7739
4
 (HPO:0000418) Narrow nasal ridge 15 / 7739
5
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
6
 (HPO:0002007) Frontal bossing 366 / 7739
7
 (HPO:0002645) Wormian bones 65 / 7739
8
 (HPO:0010537) Wide cranial sutures 21 / 7739
9
 (HPO:0000248) Brachycephaly 222 / 7739
10
 (HPO:0011220) Prominent forehead 137 / 7739
11
 (HPO:0000431) Wide nasal bridge Very frequent [Orphanet] 290 / 7739
12
 (HPO:0000337) Broad forehead Frequent [Orphanet] 116 / 7739
13
 (HPO:0000601) Hypotelorism 83 / 7739
14
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 328 / 7739
15
 (HPO:0000160) Narrow mouth 188 / 7739
16
 (HPO:0000486) Strabismus 576 / 7739
17
 (HPO:0001084) Corneal arcus 8 / 7739
18
 (HPO:0000481) Abnormality of the cornea Very frequent [Orphanet] 124 / 7739
19
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
20
 (HPO:0000592) Blue sclerae Occasional [Orphanet] 85 / 7739
21
 (HPO:0000545) Myopia 286 / 7739
22
 (HPO:0000369) Low-set ears 372 / 7739
23
 (HPO:0000400) Macrotia 108 / 7739
24
 (HPO:0001249) Intellectual disability 1089 / 7739
25
 (HPO:0001347) Hyperreflexia Very frequent [Orphanet] 363 / 7739
26
 (HPO:0001263) Global developmental delay 853 / 7739
27
 (HPO:0100022) Abnormality of movement Very frequent [Orphanet] 129 / 7739
28
 (HPO:0004305) Involuntary movements Occasional [Orphanet] 50 / 7739
29
 (HPO:0001250) Seizures 1245 / 7739
30
 (HPO:0002305) Athetosis 31 / 7739
31
 (HPO:0001385) Hip dysplasia Occasional [Orphanet] 242 / 7739
32
 (HPO:0004349) Reduced bone mineral density Occasional [Orphanet] 165 / 7739
33
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
34
 (HPO:0001373) Joint dislocation Occasional [Orphanet] 59 / 7739
35
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
36
 (HPO:0001155) Abnormality of the hand Frequent [Orphanet] 54 / 7739
37
 (HPO:0001181) Adducted thumb 31 / 7739
38
 (HPO:0001762) Talipes equinovarus 309 / 7739
39
 (HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
40
 (HPO:0001172) Abnormality of the thumb Occasional [Orphanet] 103 / 7739
41
 (HPO:0002816) Genu recurvatum Occasional [Orphanet] 30 / 7739
42
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
43
 (HPO:0001374) Congenital hip dislocation 51 / 7739
44
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
45
 (HPO:0010318) Aplasia/Hypoplasia of the abdominal wall musculature Occasional [Orphanet] 55 / 7739
46
 (HPO:0000023) Inguinal hernia 181 / 7739
47
 (HPO:0001537) Umbilical hernia Occasional [Orphanet] 206 / 7739
48
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
49
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
50
 (HPO:0001508) Failure to thrive 454 / 7739
51
 (HPO:0003510) Severe short stature 90 / 7739
52
 (HPO:0001511) Intrauterine growth retardation 358 / 7739
53
 (HPO:0001000) Abnormality of skin pigmentation Occasional [Orphanet] 105 / 7739
54
 (HPO:0007394) Prominent superficial blood vessels 2 / 7739
55
 (HPO:0000951) Abnormality of the skin Very frequent [Orphanet] 147 / 7739
56
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
57
 (HPO:0008070) Sparse hair 94 / 7739
58
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
59
 (HPO:0000973) Cutis laxa 43 / 7739
60
 (HPO:0007495) Prematurely aged appearance Very frequent [Orphanet] 44 / 7739
61
 (HPO:0000963) Thin skin 96 / 7739
62
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
63
 (HPO:0003394) Muscle cramps Occasional [Orphanet] 106 / 7739
64
 (HPO:0001252) Muscular hypotonia Very frequent [Orphanet] 990 / 7739
65
 (HPO:0009125) Lipodystrophy Frequent [Orphanet] 54 / 7739
66
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
67
 (HPO:0003745) Sporadic 131 / 7739
68
 (HPO:0001522) Death in infancy Occasional [Orphanet] 275 / 7739
69
 (HPO:0400004) Long ear Frequent [Orphanet] 94 / 7739
70
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
71
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
72
 (HPO:0012815) Hypoplastic female external genitalia Occasional [Orphanet] 36 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: