Geroderma osteodysplastica

General Information (adopted from Orphanet):

Synonyms, Signs: GERODERMIA OSTEODYSPLASTICA
GO
walt disney dwarfism
Number of Symptoms 48
OrphanetNr: 2078
OMIM Id: 231070
ICD-10: Q82.8
UMLs: C0432255
MeSH: C537799
MedDRA:
Snomed: 254116003

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: Cutis laxa
 -Rare abdominal surgical disease
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare skin disease
 -Rare surgical thoracic disease
Primary bone dysplasia with decreased bone density
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000490) Deeply set eye 131 / 7739
2
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
3
 (HPO:0000272) Malar flattening Occasional [Orphanet] 277 / 7739
4
 (HPO:0002645) Wormian bones 65 / 7739
5
 (HPO:0000704) Periodontitis 24 / 7739
6
 (HPO:0000303) Mandibular prognathia Occasional [Orphanet] 179 / 7739
7
 (HPO:0000252) Microcephaly 832 / 7739
8
 (HPO:0000482) Microcornea Occasional [Orphanet] 102 / 7739
9
 (HPO:0000478) Abnormality of the eye Occasional [Orphanet] 126 / 7739
10
 (HPO:0000750) Delayed speech and language development 197 / 7739
11
 (HPO:0001249) Intellectual disability 1089 / 7739
12
 (HPO:0002650) Scoliosis Frequent [Orphanet] 705 / 7739
13
 (HPO:0002982) Tibial bowing 36 / 7739
14
 (HPO:0002980) Femoral bowing 36 / 7739
15
 (HPO:0002659) Increased susceptibility to fractures Very frequent [Orphanet] 110 / 7739
16
 (HPO:0000939) Osteoporosis 129 / 7739
17
 (HPO:0001763) Pes planus Occasional [Orphanet] 176 / 7739
18
 (HPO:0004586) Biconcave vertebral bodies 15 / 7739
19
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
20
 (HPO:0004568) Beaking of vertebral bodies 19 / 7739
21
 (HPO:0004349) Reduced bone mineral density Very frequent [Orphanet] 165 / 7739
22
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
23
 (HPO:0001382) Joint hypermobility Very frequent [Orphanet] 231 / 7739
24
 (HPO:0001385) Hip dysplasia Frequent [Orphanet] 242 / 7739
25
 (HPO:0005930) Abnormality of epiphysis morphology Occasional [Orphanet] 119 / 7739
26
 (HPO:0000938) Osteopenia 138 / 7739
27
 (HPO:0000926) Platyspondyly Occasional [Orphanet] 150 / 7739
28
 (HPO:0011849) Abnormal bone ossification Very frequent [Orphanet] 35 / 7739
29
 (HPO:0012385) Camptodactyly 113 / 7739
30
 (HPO:0002953) Vertebral compression fractures 14 / 7739
31
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
32
 (HPO:0001187) Hyperextensibility of the finger joints 12 / 7739
33
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
34
 (HPO:0003510) Severe short stature 90 / 7739
35
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
36
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
37
 (HPO:0000974) Hyperextensible skin Very frequent [Orphanet] 59 / 7739
38
 (HPO:0000973) Cutis laxa 43 / 7739
39
 (HPO:0001582) Redundant skin Very frequent [Orphanet] 51 / 7739
40
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
41
 (HPO:0007495) Prematurely aged appearance Occasional [Orphanet] 44 / 7739
42
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 990 / 7739
43
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
44
 (OMIM) Fracture susceptible 1 / 7739
45
 (OMIM) Precocious aging 1 / 7739
46
 (OMIM) Growth rings 1 / 7739
47
 (HPO:0012758) Neurodevelopmental delay Occasional [Orphanet] 949 / 7739
48
 (OMIM) Droopy, jowled facies 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM As the name indicates, the features of this disorder include changes in the skin suggesting precocious aging and osseous changes including osteoporosis and multiple lines like growth rings of trees. The disorder was first described by Bamatter et ...
Molecular genetics OMIM Using systematic sequencing in a 5.7-Mb candidate region on chromosome 1q24, Hennies et al. (2008) identified a homozygous nonsense mutation in the GORAB gene (607983.0001) in 12 affected individuals from 4 Mennonite pedigrees with geroderma osteodysplastica (GO), including ...