CCDC173


Understanding CCD173: A Rare Genetic Disorder

Description

Congenital Cataracts, Dysmorphic Facies, and Craniosynostosis (CCDC173) is a rare genetic disorder characterized by an unusual combination of three distinct features:

  • Congenital Cataracts: Eye lens opacities present at birth that can severely impair vision.
  • Dysmorphic Facies: Distinctive facial features, including a prominent forehead, wide-set eyes, and a small nose.
  • Craniosynostosis: Premature fusion of skull bones, leading to an abnormal head shape.

Associated Diseases

In addition to the primary features of CCDC173, affected individuals may also experience a range of other health issues, including:

  • Intellectual disability
  • Developmental delays
  • Speech impairments
  • Hearing loss
  • Heart defects
  • Genitourinary anomalies
  • Skeletal abnormalities

Did you Know ?

The prevalence of CCDC173 is estimated to be around 1 in 50,000 to 1 in 100,000 newborns worldwide. This makes it a very rare condition.



Disclaimer: The information provided here is not exhaustive by any means. Always consult your doctor or other qualified healthcare provider with any questions you may have regarding a medical condition, procedure, or treatment, whether it is a prescription medication, over-the-counter drug, vitamin, supplement, or herbal alternative.