Brittle Cornea Syndrome 1

Alternative Names

  • BCS1
  • Fragilitas Oculi with Joint Hyperextensibility
  • Corneal Fragility, Keratoglobus, Blue Sclerae, Joint Hyperextensibility
  • Dysgenesis Mesodermalis Corneae Et Sclerae
  • Ehlers-Danlos Syndrome, Type VIB
  • EDS6B
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

229200

Mode of Inheritance

Autosomal recessive

Gene Map Locus

16q24.2

Description

Brittle cornea syndrome (BCS) is an autosomal recessive condition characterized by extreme corneal thinning leading to corneal rupture after minor trauma, blue sclerae, keratoconus or keratoglobus, hyperelasticity of the skin, high myopia, hearing defects and variable skeletal manifestations (e.g. joint hypermobility).  Hernias, syndactylia, and mental retardation have also been observed in patients with BCS. BCS has been described in association with systemic mesodermal disorders such as osteogenesis imrperfecta, Marfan syndrome 2, and Ehlers-Danlos syndrome ocular type 6.

Brittle cornea syndrome type 1 is caused by mutations in the ZNF469 gene.

Epidemiology in the Arab World

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Other Reports

Jordan

See: [Saudi Arabia > Al-Hussain et al., 2004]

Saudi Arabia

Al-Hussain et al. (2004) described 23 brittle cornea syndrome patients from 13 families; nine were from Saudi Arabia, two from Syria, one from Jordan, and one from Yemen.  Of them there were 11 males and 12 females, aged between 3-28 years.  All patients underwent corneal repair surgery.  A total of 28 events of corneal in ruptured were noted in eight male and nine female patients, among whom nine had had bilateral ruptures, and eight had had unilateral ruptures (four of the right cornea), while two had experienced re-rupture 2 and 4 years, respectively, after surgery.  Only six patients had had no ruptures; three males and three females aged between 3-21 years.  All patients presented with blue sclerae.  Joint laxity was present in 20 patients; especially prominent in the small joint of the hands and fingers.  Skin hyperelasticity was noted to be moderate in all patients, and congenital hearing defects were presented in four patients from four separate families.   

Syria

See: [Saudi Arabia > Al-Hussain et al., 2004]

Tunisia

Numerous reports about BCS1 in Tunisian Jewish patients exist in the literature.  Stein et al. (1968), Hyams et al. (1969) and Zlotogora et al. (1990) reported on such cases with characteristic features of BCS1.  One remarkable observation was that red hair was quite common among these patients.  Therefore, it was suggested by Zlotogora et al. that there is linkage disequilibrium in this group of patients between the two loci; the locus responsible for the syndrome and the one for hair color.

Yemen

See: [Saudi Arabia > Al-Hussain et al., 2004]

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