Conditions / Syndrome
linear skin defects with multiple congenital anomalies 2
info · Syndrome
A linear skin defects with multiple congenital anomalies characterized by linear skin defects, microcephaly, facial dysmorphism, and other congenital anomalies that has_material_basis_in heterozygous mutation in the COX7B gene on chromosome Xq21.1.
Signs and symptoms
- Aplasia cutis congenita
- Asymmetric, linear skin defects
- Microcephaly
- Global developmental delay
- Hypertelorism
- Short chin
- Short stature
- Agenesis of corpus callosum
- Intellectual disability
- Congenital diaphragmatic hernia
Also known as: APLCC; LSDMCA2; aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies