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2 OMIM references -
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
21 signs/symptoms
Stiff skin syndrome
Congenital contractural arachnodactyly

FBN1 FBN2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FBN1
(0.62)
FBN2



Citations in the biomedical literature:


Stiff skin syndrome
FBN1
Congenital contractural arachnodactyly
FBN2



Stiff skin syndrome
Congenital contractural arachnodactyly

Synonym(s):
(no synonyms)

Synonym(s):
- Beals syndrome
- Beals-Hecht syndrome
- CCA syndrome
- Distal arthrogryposis type 9

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic 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:
1 OMIM reference -
1 MeSH reference: C536211


COMMON
SIGNS
- Autosomal dominant inheritance
- Muscle anomalies
- Restricted joint mobility / joint stiffness / ankylosis


Stiff skin syndrome
Congenital contractural arachnodactyly

Very frequent
- Dermal / subcutaneous infiltration / induration
- 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 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


Very frequent
- Arthrogryposis
- Camptodactyly of fingers
- Contractures / cramps / trismus / tetania / claudication / opisthotonos
- External ear anomalies
- Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits
- High vaulted / narrow palate
- Kyphosis
- Long hand / arachnodactyly
- Long limbs / dolichostenomelia
- Scoliosis

Frequent
- Marfanoid morphotype

Occasional
- Aortic dilatation / dilation
- Congenital cardiac anomaly / malformation / cardiopathy
- Duodenal atresia / stenosis / megaduodenum
- Intestinal / gut / bowel malrotation
- Lens dislocation / luxation / subluxation / ectopia lentis
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Tracheo-esophageal fistula / esophageal atresia / stenosis