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Progeroid and marfanoid aspect-lipodystrophy syndrome
1 associated gene
No signs/symptoms info
COMMON GENES: 1
Stiff skin syndrome
2 OMIM references -
1 associated gene
24 signs/symptoms
Progeroid and marfanoid aspect-lipodystrophy syndrome
Stiff skin syndrome

FBN1
(UniProt - OMIM)
 FBN1
(UniProt - OMIM)

COMMON
GENES 		FBN1


Citations in the biomedical literature:


Progeroid and marfanoid aspect-lipodystrophy syndrome
FBN1
Stiff skin syndrome



Progeroid and marfanoid aspect-lipodystrophy syndrome
Stiff skin syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
(no data available)
External references:
No OMIM references
No MeSH references
External references:
2 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


Progeroid and marfanoid aspect-lipodystrophy syndrome

(no data available)