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.

Synonyms

costovertebral segmentation defect-mesomelia syndrome
COVESDEM syndrome

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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autosomal recessive Robinow syndrome

autosomal recessive Robinow syndrome

Associated Genes

Associated Alleles

Associated Models