Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity.

Autosomal recessive Robinow syndrome causes 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. Other features may include underdeveloped genitalia; dental problems; kidney or heart defects; or delayed development. This form is caused by mutations in the ROR2 gene.Autosomal dominant Robinow syndrome causes more mild, but similar, features. There are rarely spine and rib abnormalities, and short stature is less severe. A variant type of this form 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.

Autosomal recessive (AR) inheritance means both copies of the responsible gene in each cell must have a mutation for a person to be affected. The parents of a person with AR Robinow syndrome usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically are unaffected. When two carriers of AR Robinow syndrome have children together, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not a carrier.

Autosomal dominant (AD) inheritance means that having only one mutated copy of the responsible gene in each cell is enough to cause features of the condition. Some people with AD Robinow syndrome inherit the mutated gene from an affected parent. In other cases, the mutation that causes the condition occurs for the first time in the affected person. When a person with AD Robinow syndrome has children, each child has a 50% chance to inherit the mutated gene.