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Brachyolmia-amelogenesis imperfecta syndrome

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Description

Dental anomalies and short stature (DASS) is characterized by significant short stature with brachyolmia as well as hypoplastic amelogenesis imperfecta with almost absent enamel (Huckert et al., 2015). Some patients exhibit valvular and/or vascular defects, including mitral valve prolapse, aortic root dilation, and aortic as well as other arterial aneurysms (Dugan et al., 2015; Guo et al., 2018). Inter- and intrafamilial variability has been reported.

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

60

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Genes

External Links

  • OMIM

    601216

  • Orphanet

    2899

  • HPO
  • Medgen

    C1832594

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