Cytoscape Web
Click node...

Stiff skin syndrome
2 OMIM references -
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Boomerang dysplasia
1 OMIM reference -
1 associated gene
21 signs/symptoms
Stiff skin syndrome
Boomerang dysplasia

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

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
FBN1
(0.63)
FLNB


Citations in the biomedical literature:


Stiff skin syndrome
FBN1
Boomerang dysplasia
FLNB



Stiff skin syndrome
Boomerang dysplasia

Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
(no data available)
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
Epidemiological data:
(no data available)
External references:
2 OMIM references -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C536573
COMMON
SIGNS 		- Short stature / dwarfism / nanism

Stiff skin syndrome
Boomerang dysplasia

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
- Skin hypoplasia / aplasia / atrophy
- Strabismus / squint
- Subcutaneous nodules / lipomas / tumefaction / swelling
- Urinary / renal lithiasis / kidney stones / nephritic colic


Very frequent
- Abnormal / absent ossification
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Lack / delayed ossification of spine / vertebrae
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Rhizomelic micromelia
- Stillbirth / neonatal death
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly

Frequent
- Absent / hypotonic / flaccid abdominal wall muscles
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus
- Hydrops fetalis
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Metacarpal anomalies / Archibald's sign
- Omphalocele / exomphalos
- Polyhydramnios
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Syndactyly of fingers / interdigital palm
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray