Chondrodysplasia Grebe type is a rare genetic disorder. It is caused by a mutation to the GDF5 gene. This mutation may be inherited in an autosomal recessive pattern.[1]
Signs and symptoms
Chondrodysplasia Grebe type causes both dwarfism and dysmelia (short limb deformity).[2][3] It may also cause dental problems.[3] There is significant phenotypic variability between individuals.[2]
Cause
Chondrodysplasia Grebe type is caused by a mutation to the GDF5 gene.[4] It is inherited in an autosomal recessive pattern.[2][3] Because of this, 60% of people with chondrodysplasia Grebe type have consanguinous parents.[3]
Diagnosis
Due to the small number of signs and symptoms, and rarity, chondrodysplasia Grebe type is hard to diagnose.[2] Genetic testing, usually exome sequencing, is used to identify the mutation to the GDF5 gene.[5]