Stiff skin syndrome

Preferred Label : Stiff skin syndrome;

Symbol : SSKS;

CISMeF acronym : SSKS;

Type : Phenotype, molecular basis known;

Description : 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 similar phenotypes involving stiff skin have been described; see, e.g., familial progressive scleroderma (181750), symmetric lipomatosis (151800), and congenital fascial dystrophy (228020).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibrillin-1 gene (FBN1, 134797.0050);

Prefixed ID : #184900;

Details

Origin ID

184900;

UMLS CUI

C1861456;

Currated CISMeF NLP mapping
- Stiff Skin Syndrome [NCIt concept]
- Stiff skin syndrome [PASCAL descriptor]
- Stiff skin syndrome [ICD-11 More detail]
- Stiff skin syndrome [ORDO Disease]
- Stiff skin syndrome (disorder) [SNOMED CT concept]
- stiff skin syndrome [Disease (Nov.)]
- stiff skin syndrome [DO Concept]
- stiff skin syndrome [MeSH concept]
- stiff skin syndrome [MeSH Supplementary Concept]
DO Cross reference
- stiff skin syndrome [DO Concept]
Genes related to phenotype
- Fibrillin 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bicuspid aortic valve [HPO term]
- Camptodactyly [HPO term]
- Cataract [HPO term]
- Elbow flexion contracture [HPO term]
- Gastroesophageal reflux [HPO term]
- Knee flexion contracture [HPO term]
- Limited shoulder movement [HPO term]
- Lipodystrophy [HPO term]
- Muscle weakness [HPO term]
- Myopia [HPO term]
- Peripheral neuropathy [HPO term]
- Short stature [HPO term]
- Stiff skin [HPO term]
ORDO concept(s)
- Stiff skin syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Stiff Skin Syndrome [NCIt concept]
- Stiff skin syndrome [ORDO Disease]
- Stiff skin syndrome [PASCAL descriptor]
- Stiff skin syndrome [ICD-11 More detail]
- Stiff skin syndrome [MedDRA Preferred Term]
- Stiff skin syndrome (disorder) [SNOMED CT concept]
- stiff skin syndrome [MeSH Supplementary Concept]
- stiff skin syndrome [MeSH concept]
- stiff skin syndrome [Disease (Nov.)]
- stiff skin syndrome [DO Concept]

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