- Acral dysostosis with facial and genital abnormalities
- Costovertebral segmentation defect with mesomelia (formerly)
- Covesdem syndrome (formerly)
- Fetal face syndrome
- Mesomelic dwarfism-small genitalia syndrome
Autosomal recessive Robinow syndrome is characterized by shortening of the long bones in the arms and legs; short fingers and toes; wedge-shaped spinal bones leading to kyphoscoliosis; fused or missing ribs; short stature; and distinctive facial features. There may also be underdeveloped genitalia, dental problems, kidney or heart defects, and/or delayed development. This form is caused by mutations in the ROR2 gene.
Autosomal dominant Robinow syndrome tends to have more mild, but similar, signs and symptoms. Spine and rib abnormalities are rarely present, and short stature is less severe. There is also a variant type of this form which is additionally characterized by osteosclerosis. Autosomal dominant Robinow syndrome may be caused by a mutation in the WNT5A or DVL1 gene.
In some cases, the underlying cause of Robinow syndrome is unknown. Management may include bracing or surgery for skeletal abnormalities, and growth hormone to increase growth rate in affected children.
- Robinow syndrome. Genetics Home Reference. September, 2015; http://ghr.nlm.nih.gov/condition/robinow-syndrome.
- Juliana MAZZEU. Robinow syndrome. Orphanet. May, 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360.
- Genetics Home Reference (GHR) contains information on Robinow syndrome. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Autosomal dominant Robinow syndrome-1 (DRS1)
Autosomal recessive Robinow syndrome (RRS)
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Robinow syndrome. Click on the link to view a sample search on this topic.