Conditions / Syndrome
Meier-Gorlin syndrome 1
info · Syndrome
A Meier-Gorlin syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ORC1 gene on chromosome 1p32.
Signs and symptoms
- Delayed skeletal maturation
- Low-set ears
- Microtia
- Feeding difficulties in infancy
- Breast hypoplasia
- Slender long bone
- Patellar aplasia
- Micrognathia
- Narrow mouth
- Thick vermilion border