NORD gratefully acknowledges Robert Power, NORD Editorial Intern from the University of Notre Dame, and Maian Roifman, MD, Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, Prenatal Diagnosis and Medical Genetics Program, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, for assistance in the preparation of this report.
Synonyms of Robinow Syndrome
- acral dysostosis with facial and genital abnormalities
- costovertebral segmentation defect with mesomelia (formerly)
- fetal face syndrome
- Robinow-Silverman syndrome
Subdivisions of Robinow Syndrome
- autosomal recessive Robinow syndrome
- autosomal dominant Robinow syndrome
Robinow syndrome is an extremely rare inherited disorder that affects development of the bones and other parts of the body. There are two forms of Robinow syndrome that are distinguished by signs and symptoms, severity, mode of inheritance, and the genes associated with them. Autosomal recessive Robinow syndrome is more severe and is characterized by shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones that leads to abnormal curvature of the spine (kyphoscoliosis); fused or missing ribs; short stature; and distinctive facial features that are sometimes described as “fetal facies” because the face is similar to the face of a developing fetus. Other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development. Children with autosomal dominant Robinow syndrome have similar but milder features. Spine and rib anomalies are usually not present and short stature is less severe. Some individuals with autosomal dominant Robinow syndrome also have increased bone mineral density (osteosclerosis).
(Please note that some of these organizations may provide information concerning certain conditions potentially associated with this disorder [e.g., short stature, intellectual disability, etc.].)
NORD Member Organizations
1989, 1997, 1998, 2005, 2007, 2017
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