Congenital contractural arachnodactyly

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Classification according to ICD-10
Q87.8 Other specified congenital malformation syndromes, not elsewhere classified
ICD-10 online (WHO version 2019)

The congenital contractural arachnodactyly is an inherited disease of the connective tissue with flexion contractures , Spinnenfingrigkeit ( arachnodactyly ), severe scoliosis, abnormal ear cups and an under-development of the muscles.

Synonyms are:

  • Beals-Hecht syndrome
  • Beals Syndrome
  • CCA (Congenital contractural arachnodactyly)
  • Distal arthrogryposis type 9

The proper names of the disease refer to those who first described it in 1972: the American orthopedic surgeon Rodney Kenneth Beals and the American pediatrician and geneticist Frederick Hecht .

distribution

The frequency of this condition is unknown.

root cause

The inheritance is autosomal dominant . The disease is caused by mutations in the FBN2 gene in chromosome region 5q23.

clinic

Clinical criteria are:

  • Numerous congenital contractures
  • Scoliosis and / or kyphosis of the spine
  • Arachnodactyly and dolichostenomelia
  • Tall stature
  • Auricular changes ("crumpled" looking)

Often also foot deformities, retro genius , occasionally blue sclera

Diagnosis

Molecular prenatal diagnostics can be carried out before birth, and an ultrasound can show sedentary lifestyle and contractures. The x-ray shows unspecifically long, thin tubular bones with a narrow cortex , thin ribs, and possibly bends.

Differential diagnosis

The Marfan syndrome , in which the contractures and ear changes are hardly to be expected. Aneurysms do not occur.

therapy

Causal treatment is not possible, the symptoms of contractures and spinal curvature can be successfully addressed.

See also

The disease should not be confused with trismus-pseudocamptylodactyly syndrome , also known as Hecht-Beals syndrome .

literature

  • F. Hecht, RK Beals: "New" syndrome of congenital contractural arachnodactyly originally described by Marfan in 1896. In: Pediatrics. Volume 49, Number 4, April 1972, pp. 574-579, ISSN  0031-4005 . PMID 4552107 .
  • P. Meinecke, E. Schaefer, E. Passarge: Congenital contractural arachnodactyly (CCA syndrome) - an autosomal dominant hereditary connective tissue disease. In: Clinical Pediatrics. Volume 195, Number 1, 1983 Jan-Feb, pp. 64-70, ISSN  0300-8630 . doi : 10.1055 / s-2008-1034044 . PMID 6834743 .

Individual evidence

  1. ↑ a b B. Leiber: The clinical syndromes. Syndromes, sequences and symptom complexes. Edited by G. Burg, J. Kunze, D. Pongratz, PG Scheurlen, A. Schinzel, J. Spranger, 7th edition. Urban & Schwarzenberg 1990, ISBN 3-541-01727-9
  2. ↑ a b c Congenital contractural arachnodactyly. In: Orphanet (Rare Disease Database).
  3. ↑ Where named it
  4. ↑ M. Inbar-Feigenberg, N. Meirowitz, D. Nanda, A. Toi, N. Okun, D. Chitayat: Beals syndrome (congenital contractural arachnodactyly) - Prenatal Ultrasound Findings and Molecular analysis. In: Ultrasound in obstetrics & gynecology: the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. [electronic publication before printing] March 2014, ISSN  1469-0705 . doi : 10.1002 / uog.13350 . PMID 24585410 .

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