ODCs

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1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
21 signs/symptoms

Progeroid and marfanoid aspect-lipodystrophy syndrome

Congenital contractural arachnodactyly


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

Citations in the biomedical literature:

Progeroid and marfanoid aspect-lipodystrophy 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 systemic or rheumatologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare systemic or rheumatologic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

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

Congenital contractural arachnodactyly
	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
Progeroid and marfanoid aspect-lipodystrophy syndrome
(no data available)