Conditions / Syndrome
Meier-Gorlin syndrome 10
info · Syndrome
A Meier-Gorlin syndrome that is characterized by intrauterine growth retardation, short stature with proportionate microcephaly, microtia, and absent or hypoplastic patellae and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21
A Meier-Gorlin syndrome that is characterized by intrauterine growth retardation, short stature with proportionate microcephaly, microtia, and absent or hypoplastic patellae and that has_material_basis_in homozygous mutation in the DONSON gene on chromosome 21q22.
Signs and symptoms
- Toe syndactyly
- Mild intellectual disability
- Hearing impairment
- Inability to walk
- Narrow mouth
- Acetabular dysplasia
- Gastroesophageal reflux
- Short palpebral fissure
- Sparse eyebrow
- Smooth philtrum