Conditions / Syndrome
craniolenticulosutural dysplasia
info · Syndrome
A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting path
A syndrome in neonates that is characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects. It has_material_basis_in the mutation of the SEC23A gene on the 14th chromosome, with the underproduction in the collagen secreting pathway and distension of endoplasmic reticulum leading to bone defects.
Signs and symptoms
- Delayed closure of the anterior fontanelle
- Delayed eruption of teeth
- Long philtrum
- Short stature
- High iliac wing
- Wide anterior fontanel
- Sparse hair
- Posterior Y-sutural cataract
- Smooth philtrum
- Hypertelorism
Also known as: Boyadjiev-Jabs Syndrome; cranio-lenticulo-sutural dysplasia, CLSD