ODCs

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Congenital contractural arachnodactyly

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Stiff skin syndrome

2 OMIM references -
1 associated gene
24 signs/symptoms

Congenital contractural arachnodactyly

Stiff skin syndrome

FBN2

(UniProt - OMIM)

FBN1

(UniProt - OMIM)


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

Citations in the biomedical literature:

Congenital contractural arachnodactyly		Stiff skin syndrome
	Synonym(s): - Beals syndrome - Beals-Hecht syndrome - CCA syndrome - Distal arthrogryposis type 9		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare systemic or rheumatologic disease		Classification (Orphanet): - Rare genetic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

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

	External references: 1 OMIM reference - 1 MeSH reference: C536211		External references: 2 OMIM references - No MeSH references


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

Congenital contractural arachnodactyly		Stiff skin syndrome
	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		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