Stiff skin syndrome

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 27
OrphanetNr: 2833
OMIM Id: 184900
228020
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Unclassified genetic skin disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0000787) Nephrolithiasis Occasional [Orphanet] 78 / 7739
2
 (HPO:0011800) Midface retrusion Occasional [Orphanet] 221 / 7739
3
 (HPO:0000501) Glaucoma Occasional [Orphanet] 180 / 7739
4
 (HPO:0000541) Retinal detachment Occasional [Orphanet] 87 / 7739
5
 (HPO:0000486) Strabismus Occasional [Orphanet] 576 / 7739
6
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
7
 (HPO:0009830) Peripheral neuropathy Occasional [Orphanet] rare [HPO:skoehler] 206 / 7739
8
 (HPO:0007021) Pain insensitivity Occasional [Orphanet] 35 / 7739
9
 (HPO:0005978) Type II diabetes mellitus Occasional [Orphanet] 68 / 7739
10
 (HPO:0001371) Flexion contracture 220 / 7739
11
 (HPO:0001387) Joint stiffness Very frequent [Orphanet] 322 / 7739
12
 (HPO:0001376) Limitation of joint mobility 27 / 7739
13
 (HPO:0004322) Short stature Occasional [Orphanet] rare [HPO:skoehler] 1232 / 7739
14
 (HPO:0100679) Lack of skin elasticity Very frequent [Orphanet] 29 / 7739
15
 (HPO:0001031) Subcutaneous lipoma Occasional [Orphanet] 112 / 7739
16
 (HPO:0008065) Aplasia/Hypoplasia of the skin Occasional [Orphanet] 81 / 7739
17
 (HPO:0001072) Thickened skin Very frequent [Orphanet] 87 / 7739
18
 (HPO:0000822) Hypertension Occasional [Orphanet] 224 / 7739
19
 (HPO:0003119) Abnormality of lipid metabolism Occasional [Orphanet] 60 / 7739
20
 (HPO:0003011) Abnormality of the musculature Occasional [Orphanet] 47 / 7739
21
 (HPO:0003202) Skeletal muscle atrophy Occasional [Orphanet] 281 / 7739
22
 (HPO:0001324) Muscle weakness Occasional [Orphanet] rare [HPO:skoehler] 859 / 7739
23
 (HPO:0100578) Lipoatrophy Occasional [Orphanet] 30 / 7739
24
 (HPO:0009125) Lipodystrophy Occasional [Orphanet] rare [HPO:skoehler] 54 / 7739
25
 (HPO:0030053) Stiff skin 3 / 7739
26
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
27
 (OMIM) Stiff skin Very frequent [Orphanet] 31 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: