Conditions / Syndrome
brachycephaly, trichomegaly, and developmental delay
info · Syndrome
A syndrome characterized by brachycephaly, trichomegaly, and developmental delay, without anemia, that has_material_basis_in heterozygous mutation in the RPS23 gene on chromosome 5q14.
Signs and symptoms
- Epicanthus
- Prominent fingertip pads
- Single transverse palmar crease
- Microcephaly
- Depressed nasal bridge
- Long eyelashes
- Short stature
- Generalized hypotonia
- Motor delay
- Specific learning disability
Also known as: BTDD; MCINS; Macinnes syndrome