autosomal recessive Robinow syndrome

Term ID

DOID:0060764

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. (2)

References

• MIM:268310
• ORDO:1507

Ontology

Human Disease   ( DOID:0060764 )