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2 OMIM references -
1 associated gene
24 signs/symptoms
COMMON GENES: 1
8 OMIM references -
9 associated genes
No signs/symptoms info
Stiff skin syndrome
Familial thoracic aortic aneurysm and aortic dissection

FBN1 ACTA2
FBN1
MYH11
MYLK
PRKG1
SMAD3
TGFB2
TGFBR1
TGFBR2


COMMON
GENES
FBN1



Citations in the biomedical literature:


Stiff skin syndrome
FBN1
Familial thoracic aortic aneurysm and aortic dissection
ACTA2 MYH11 MYLK PRKG1 SMAD3
TGFB2 TGFBR1 TGFBR2



Stiff skin syndrome
Familial thoracic aortic aneurysm and aortic dissection

Synonym(s):
(no synonyms)

Synonym(s):
- Familial TAAD

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare surgical thoracic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Diseases of the circulatory system -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

External references:
2 OMIM references -
No MeSH references
External references:
8 OMIM references -
No MeSH references

Stiff skin syndrome

Very frequent
- Autosomal dominant inheritance
- Dermal / subcutaneous infiltration / induration
- Restricted joint mobility / joint stiffness / ankylosis
- Thick skin / pachydermia / orange skin
- Tight skin / lack of elasticity

Occasional
- Abnormal fat distribution / lipodystrophy
- Chronic arterial hypertension
- Glaucoma
- Hyperlipidemia / hypercholesterolemia / hypertriglyceridemia
- Insensitivity to pain
- Insulin-independent / type 2 diabetes
- Lipoatrophy
- Mid-facial hypoplasia / short / small midface
- Muscle anomalies
- Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy
- Muscle weakness / flaccidity
- Peripheral neuropathy
- Retinal detachment
- Sensorineural deafness / hearing loss
- Short stature / dwarfism / nanism
- Skin hypoplasia / aplasia / atrophy
- Strabismus / squint
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Urinary / renal lithiasis / kidney stones / nephritic colic


Familial thoracic aortic aneurysm and aortic dissection

(no data available)