Cytoscape Web
Click node...


2 OMIM references -
1 associated gene
24 signs/symptoms
COMMON GENES: 1
1 associated gene
No signs/symptoms info
Stiff skin syndrome
Neonatal Marfan syndrome

FBN1 FBN1


COMMON
GENES
FBN1



Citations in the biomedical literature:


Stiff skin syndrome
FBN1
Neonatal Marfan syndrome



Stiff skin syndrome
Neonatal Marfan syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- Neonatal MFS

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):
- Congenital malformations, deformations and chromosomal abnormalities -

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

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


Neonatal Marfan syndrome

(no data available)