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Congenital contractural arachnodactyly

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1

Proteus-like syndrome

1 OMIM reference -
1 associated gene
22 signs/symptoms

Congenital contractural arachnodactyly

Proteus-like syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FBN2	(0.63)	PTEN

Citations in the biomedical literature:

Congenital contractural arachnodactyly		Proteus-like syndrome
	Synonym(s): - Beals syndrome - Beals-Hecht syndrome - CCA syndrome - Distal arthrogryposis type 9		Synonym(s): - Cohen-Hayden syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		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		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		External references: 1 OMIM reference - No MeSH references

Congenital contractural arachnodactyly		Proteus-like syndrome
	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		Very frequent - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Conjunctival tumor / epibulbar dermoid - Dental malocclusion - Exostoses - Genu recurvatum - Intellectual deficit / mental / psychomotor retardation / learning disability - Irregular / in bands / reticular skin hyperpigmentation - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Myopia - Pigmented naevi / naevus pigmentosus / lentigo - Pupillary anomalies / mydriasis / myosis / tonic pupil - Xanthomas / lipomas Frequent - Cataract / lens opacification - Communicating hydrocephaly - Heterochromia / mixed colouring of iris - Macrocephaly / macrocrania / megalocephaly / megacephaly - Parathyroids anomalies - Prognathism / prognathia - Retinal detachment - Shagreen patch - Varices / varicous veins / venous insufficiency