Term Name: autosomal recessive Robinow syndrome
Synonyms: costovertebral segmentation defect-mesomelia syndrome, COVESDEM syndrome, RRS
Definition: A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22.
Ontology: Human Disease [DOID:0060764]   ( DOID:0060764 )

Relationships
is a type of: autosomal recessive disease Robinow syndrome