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.