Cytoscape Web
Click node...

Congenital contractural arachnodactyly
1 OMIM reference -
1 associated gene
26 connected diseases
21 signs/symptoms
Disease Type of connection
Autosomal dominant cutis laxa
Supravalvular aortic stenosis
Williams syndrome
Huntington disease
Juvenile Huntington disease
Bannayan-Riley-Ruvalcaba syndrome
Cowden syndrome
Hereditary breast and ovarian cancer syndrome
Juvenile polyposis of infancy
Lhermitte-Duclos disease
Macrocephaly-autism syndrome
Proteus syndrome
Proteus-like syndrome
Segmental outgrowth - lipomatosis - arteriovenous malformation - epidermal nevus
Squamous cell carcinoma of head and neck
Acromicric dysplasia
Familial thoracic aortic aneurysm and aortic dissection
Geleophysic dysplasia
Glaucoma - ectopia - microspherophakia - stiff joints - short stature
Isolated ectopia lentis
Marfan syndrome type 1
Neonatal Marfan syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Shprintzen-Goldberg syndrome
Stiff skin syndrome
Weill-Marchesani syndrome
Synonym(s):
- Beals syndrome
- Beals-Hecht syndrome
- CCA syndrome
- Distal arthrogryposis type 9
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536211
Gene symbol UniProt reference OMIM reference
FBN2 P35556612570
Very frequent
- Arthrogryposis
- Autosomal dominant inheritance
- 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
- Muscle anomalies
- Restricted joint mobility / joint stiffness / ankylosis
- 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