Arachnodactyly, congenital contractileQ87.4
Synonym(s)
Beals-Hecht Syndrome; Congenital aachnodactyly with contractures; Congenital Contractile Arachnodactyly; Congenital contractural arachnodactyly; OMIM 121050
HistoryThis section has been translated automatically.
Beyer et al., 1965; Beals and Pike, 1971
DefinitionThis section has been translated automatically.
Autosomal dominant hereditary syndrome with congenital multiple contractures, arachnodactyly, high growth (marfanoid aspect), characteristic auricular changes (crumpled ears) and blue sclerae (inconstant).
EtiopathogenesisThis section has been translated automatically.
Autosomal dominant with variable expression inherited mutations of the fibrillin 2 gene (FBN2; CCA fibrillin 2 gene; gene locus: 5q23-q31).
Clinical featuresThis section has been translated automatically.
Congenital multiple contractures of large and small joints, spontaneous tendency of contractures to improve; frequently also foot deformities such as hock feet or clubfeet, arachnodactyly, high growth also frequent, also asthenic habitus with weakly developed subcutaneous fatty tissue and low muscle mass, overall marfanoid habitus, auricular changes of varying severity with increased relief (crumpled ears).
LiteratureThis section has been translated automatically.
- Ayers KM et al (2003) Novel dental anomalies associated with congenital contractural arachnodactyly: a case report. Pediatric Dent 25: 501-504
- Beals RK, pike F (1971) Congenital contractural arachnodactyly. A heritable disorder of connective tissue. J Bone Surgery 53-A: 987-993
- Beyer P, Klein ML, Iszepy E (1965) Maladie de Marfan avec raideurs articulaires importantes atteignant les quatre enfants de la meme fratrie et leur mere. Arch Franc Pediat 22: 210-216
- Epstein CJ, Graham CB, Hodgkin WE, Hecht F, Motulsky AG (1968) Hereditary dysplasia of bone with kyphoscoliosis, contractures, and abnormally shaped ears. J Pediatrics 73: 379-386
- Jones JL et al (2002) Beals-Hecht syndrome. South Med J 95: 753-755
- Lee B, Godfrey M, Vitale E et al (1991) Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. Nature 352: 330-334
- Quondamatteo F et al (2002) Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development. Matrix Biol 21: 637-646