Fibrochondrogenesis 1

Alternative Names

  • FBCG1
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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

228520

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1p21.1

Description

Fibrochondrogenesis is a rare congenital disorder characterised by distinctive facial features and skeletal abnormalities. Affected individuals have shortened long bones with dumbbell shaped ends, flattened vertebral bodies, underdeveloped pelvic bones and a narrow chest. Fibrochondrogenesis is neonatally lethal and in those patients who survive infancy, auditory and ocular defects have been observed. Compound heterozygous mutation in the COL11A1 gene is known to cause fibrochondrogenesis 1.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
228520.1.1Saudi ArabiaMaleYesYes Hypertelorism; Midface retrusion; Wide... NM_001854.3:c.2702G>AHomozygousAutosomal, RecessiveKhalifa et al. 2012 Patient 1 in the pub...
228520.1.2Saudi ArabiaMaleYesYes Hypertelorism; Midface retrusion; Lens... NM_001854.3:c.2702G>AHomozygousAutosomal, RecessiveKhalifa et al. 2012 Patient 2 in the pub...
228520.2OmanFemaleNoYes Wide anterior fontanel; Proptosis; Mid... NM_001854.3:c.4084C>THomozygousAutosomal, RecessiveAkawi et al. 2012 Patient II.1 from fa...
228520.3.1OmanFemaleNoYes Wide anterior fontanel; Proptosis; ... NM_001854.3:c.3708+437T>GHomozygousAutosomal, RecessiveAkawi et al. 2012 Patient III.7 from f...
228520.3.2OmanFemaleNoYes Wide anterior fontanel; Proptosis; ... NM_001854.3:c.3708+437T>GHomozygousAutosomal, RecessiveAkawi et al. 2012 Patient III.1 from f...
228520.3.3OmanMaleNoYes Wide anterior fontanel; Proptosis; ... NM_001854.3:c.3708+437T>GHomozygousAutosomal, RecessiveAkawi et al. 2012 Patient III.2 from f...
228520.3.4OmanMaleNoYes Wide anterior fontanel; Proptosis;... NM_001854.3:c.3708+437T>GHomozygousAutosomal, RecessiveAkawi et al. 2012 Patient III.4 from f...
228520.3.5OmanFemaleNoYes Wide anterior fontanel; Proptosis... NM_001854.3:c.3708+437T>GHomozygousAutosomal, RecessiveAkawi et al. 2012 Patient III.5 from f...
228520.3.6OmanFemaleNoYes Wide anterior fontanel; Proptosi... NM_001854.3:c.3708+437T>GHomozygousAutosomal, RecessiveAkawi et al. 2012 Patient III.8 from f...
228520.4.1Saudi ArabiaMaleYesYes Global Developmental delay; Short statur... NM_001854.3:c.2702G>AHomozygousAutosomal, RecessiveMaddirevula et al. 2018
228520.4.2Saudi ArabiaMaleYesYes Global Developmental delay; Short statur... NM_001854.3:c.2702G>AHomozygousAutosomal, RecessiveMaddirevula et al. 2018 Relative of 228520.4...

Other Reports

Lebanon

Megarbane et al. (1998) reported fibrochondrogenesis in an infant whose parents were consanguineous. The prenatal ultrasonography performed during second trimester revealed intrauterine growth retardation and the child died two hours post delivery due to respiratory distress. Prior to this case, another child born to the same couple reportedly had similar symptoms, and died 30 minutes after delivery.

Oman

Al-Gazali et al. (1997) reported the first case of fibrochondrogenesis in an Arab patient. The patient, an Omani child whose parents were consanguineous, was prenatally diagnosed with short limbs in the third trimester. A second case of fibrochondrogenesis was reported later in the same family by Al-Gazali et al. (1999).

United Arab Emirates

Al-Gazali et al. (2003) conducted a 5-year prospective study in newborns at Al Ain Medical District to determine the pattern and prevalence of different types of osteochondrodysplasias in the United Arab Emirates. Fibrochondrogenesis was found to be the most common type of recessive skeletal dysplasia within the study group. Four cases were identified among the 38,048 births during the study period.

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