Conditions / Syndrome
Bowen-Conradi syndrome
info · Syndrome
A syndrome that is characterized by growth delays, failure to thrive and malformations of the head and face that results in infantile death, has_material_basis_in homozygous mutation in the EMG1 gene on chromosome 12p13.
Signs and symptoms
- Microcephaly
- Rocker bottom foot
- Small for gestational age
- Prominent nose
- Clinodactyly of the 5th finger
- Abnormal joint morphology
- Micrognathia
Also known as: BWCNS; Bowen Hutterite syndrome; Bowen-Conradi Hutterite syndrome