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Autosomal recessive Robinow syndrome
Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.
ORPHA:1507Classification level: Subtype of disorder
Fewer than 100 cases of this type have been reported in the literature to date.
The disorder is usually recognizable at birth or in early childhood. The clinical signs are generally far more severe in recessive cases of RS than in the dominant form, particularly skeletal abnormalities. All patients with the recessive form of RS suffer from vertebral segmentation abnormalities, resulting in scoliosis and chest deformities. Rib fusions are considered to be characteristic of the autosomal recessive form.
The syndrome is caused by mutations in the ROR2 gene (9q22).
Transmission is autosomal recessive.
A summary on this disease is available in Deutsch (2011) Español (2011) Français (2011) Italiano (2011) Nederlands (2011) Português (2011) Polski (2011, pdf)