loading...| Preferred Name | stiff skin syndrome | |
| Synonyms |
STIFF skin syndrome SSKS stiff skin syndrome |
|
| Definitions |
A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0008492 |
|
| database_cross_reference |
UMLS:C1861456 SCTID:765187004 MESH:C566112 icd11.foundation:642409035 MEDGEN:348877 NCIT:C118636 Orphanet:2833 OMIM:184900 DOID:0111561 GARD:5025 |
|
| definition |
A rare syndrome characterized by hard, thick skin, usually on the entire body. The thickening of the skin can limit joint mobility and causes joints to be stuck in a bent position (flexion contractures). The onset of signs and symptoms can range from presenting at birth through childhood. Other signs and symptoms may include excessive hair growth (hypertrichosis), loss of body fat (lipodystrophy), scoliosis, muscle weakness, slow growth, and short stature. Weakness or paralysis of the eye muscles have also been reported. Stiff skin syndrome is caused by mutations (changes) in the FBN1 gene and is inherited in an autosomal dominant manner. Diagnosis is based on a clinical evaluation that is consistent with stiff skin syndrome, and the diagnosis can be confirmed with genetic testing. Treatment is based on the symptoms of each individual and may include physical therapy. |
|
| has_exact_synonym |
stiff skin syndrome |
|
| has_related_synonym |
STIFF skin syndrome SSKS |
|
| id |
MONDO:0008492 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disorder |
|
| label |
stiff skin syndrome |
|
| notation |
MONDO:0008492 |
|
| preferred label |
stiff skin syndrome |
|
| prefLabel |
stiff skin syndrome |
|
| see also |
https://rarediseases.info.nih.gov/diseases/5025/stiff-skin-syndrome |
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| skos_exactMatch |
http://identifiers.org/medgen/348877 http://identifiers.org/mesh/C566112 http://purl.obolibrary.org/obo/NCIT_C118636 http://purl.obolibrary.org/obo/Orphanet_2833 http://purl.obolibrary.org/obo/DOID_0111561 http://identifiers.org/snomedct/765187004 http://linkedlifedata.com/resource/umls/id/C1861456 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/642409035 |
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| subClassOf |