Visualize Submit Comment
Metadata
ID DOID:0060764
Name autosomal recessive Robinow syndrome
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.
https://www.ncbi.nlm.nih.gov/pubmed/10932186, https://www.ncbi.nlm.nih.gov/pubmed/10932187
Xrefs

OMIM:268310

ORDO:1507

Synonyms

costovertebral segmentation defect-mesomelia syndrome [EXACT]

COVESDEM syndrome [EXACT]

RRS [EXACT]

Parent Relationships

is_a Robinow syndrome

Add an item to the term tracker