Short-rib thoracic dysplasia 1 with or without polydactyly

Alternative Names

  • Asphyxiating Thoracic Dystrophy 1
  • ATD1
  • Jeune Syndrome
  • Thoracic-Pelvic-Phalangeal Dystrophy
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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

208500

Mode of Inheritance

Autosomal recessive

Gene Map Locus

15q13

Description

Asphyxiating thoracic dystrophy 1 also known as Jeune syndrome is an autosomal recessive skeletal dysplasia characterised by a constricted thoracic cage, short limbs, short stature, and metaphyseal changes. Presence of a narrow thoracic cage in patients restrict the growth and expansion of the lungs causing respiratory insufficiency during early years. Patients may also develop variable renal, hepatic, and retinal abnormalities.

Jeune syndrome is rare and has an incidence rate of about 1-5 in every 500,000 livebirths. It is linked to the chromosomal region 15q13.

Epidemiology in the Arab World

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Other Reports

Arab

Al-Gazali et al. (2003) studied and reported the pattern and birth prevalence of several types of osteochondrodysplasias in the United Arab Emirates during a 5-year period. During the study, which involved 38,048 births, only one case of Jeune syndrome was reported – in an infant born to consanguineous parents. According to the study, the birth rate of this type of osteochondrodysplasia in the United Arab Emirates was estimated to be 0.26/10,000 births.

Oman

Sawardekar (2005) conducted a study to establish the prevalence of major congenital malformations in children born during a 10-year period (1993 to 2002) at Nizwa hospital, Oman. Of the 21,988 total births, one child was diagnosed with asphyxiating thoracic dystrophy.

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