STIFF SKIN SYNDROME

General Information (adopted from Orphanet):

Synonyms, Signs: SSKS
Number of Symptoms 10
OrphanetNr:
OMIM Id: 184900
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001371) Flexion contracture 220 / 7739
2
(HPO:0001376) Limitation of joint mobility 27 / 7739
3
(HPO:0003502) Mild short stature 19 / 7739
4
(HPO:0001324) Muscle weakness 859 / 7739
5
(HPO:0001252) Muscular hypotonia 990 / 7739
6
(HPO:0009064) Generalized lipodystrophy 17 / 7739
7
(HPO:0009125) Lipodystrophy 54 / 7739
8
(OMIM) Diffuse entrapment neuropathy (in some patients) 1 / 7739
9
(OMIM) Thick, indurated skin over entire body 1 / 7739
10
(OMIM) Cutaneous nodules at distal interphalangeal joints (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness (Loeys et al., 2010).

Patients with ...

Clinical Description OMIM Esterly and McKusick (1971) described a disorder characterized by thickened and indurated skin of the entire body and limitation of joint mobility with flexion contractures. One patient they reported was a sporadic case but the other had an ...
Molecular genetics OMIM Loeys et al. (2010) sequenced the FBN1 gene (134797) in probands from 4 unrelated families with stiff skin syndrome and identified heterozygous missense mutations in each, all within exon 37 of the gene (see 134797.0050-134797.0053, respectively). Another patient ...