Conditions / Syndrome
Mulchandani-Bhoj-Conlin syndrome
info · Syndrome
A syndrome characterized by prenatal growth restriction, severe short stature with proportional head circumference, and profound feeding difficulty that has_material_basis_in heterozygous mutation in an imprinting region on chromosome 20q11-q13.
Signs and symptoms
- Severe short stature
- Failure to thrive
- Feeding difficulties
- Generalized hypotonia
- Intrauterine growth retardation
- Motor delay
- Clinodactyly
- Epicanthus
- Hypermelanotic macule
- Scoliosis
Also known as: MBCS; UPD(20)mat; maternal UPD(20); maternal uniparental disomy of chromosome 20