Odontoonychodermal Dysplasia

Alternative Names

  • OODD
  • Fadhil Syndrome
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

257980

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2q35

Description

Odontoonychodermal dysplasia is a rare disorder characterized by anomalies of the structures arising from the ectoderm. Mild mental retardation was observed in some cases.

 

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
257980.1.1LebanonMaleYesYes Dry hair ; Keratosis pilaris ; Hypodon...NM_025216.3:c.697G>THomozygousAutosomal, RecessiveAdaimy et al, 2007
257980.1.2LebanonMaleYesYes Dry hair ; Keratosis pilaris ; Hypod...NM_025216.3:c.697G>THomozygousAutosomal, RecessiveAdaimy et al, 2007 Brother of 257980.1....
257980.1.3LebanonMaleYesYes Dry hair ; Keratosis pilaris ; Hyp...NM_025216.3:c.697G>THomozygousAutosomal, RecessiveAdaimy et al, 2007 First cousin of 2579...
257980.2.1LebanonMaleYesYes Aplasia/Hypoplasia of the nails ; Nail ...NM_025216.3:c.697G>THomozygousAutosomal, RecessiveAdaimy et al, 2007
257980.2.2LebanonMaleYesYes Palmoplantar keratoderma ; Palmoplantar...NM_025216.3:c.697G>THomozygousAutosomal, RecessiveAdaimy et al, 2007 Paternal uncle of 25...
257980.3.1LebanonFemaleNoYes Nail dystrophy ; Palmoplantar hyperhidr...NM_025216.3:c.697G>THomozygousAutosomal, RecessiveAdaimy et al, 2007
257980.G.1LebanonUnknownYesYes Dry skin ; Dry hair ; Sparse eyebrow ;...NM_025216.3:c.697G>THomozygousAutosomal, RecessiveSfeir et al, 2017 Group of 20 affected...

Other Reports

Lebanon

Fadhil et al. (1983), as the first to report this condition, reported seven affected individuals, in a total of 24 belonging to three inbred Lebanese sibships, with apparently an undescribed pure ectodermal dysplasia. Owing to the homozygous state of an autosomal recessive gene, Fadhil et al. (1983) suggested the name trichoodontodermal dysplasia.

Megarbane et al. (2004) reported three Lebanese boys, two brothers and their maternal cousin, who were thought to have odonto-onycho-dermal dysplasia syndrome.

© CAGS 2024. All rights reserved.