Robinow Syndrome Panel

Robinow syndrome is a rare condition characterized by distinct facial features, growth retardation, limb defects, and genital hypoplasia. Skeletal anomalies include mesomelic or acromesomelic limb shortening, hemivertebrae, and brachydactyly. Characteristic facial features include macrocephaly, prominent broad forehead, hypertelorism, midface hypoplasia, short upturned nose with depressed nasal bridge and flared nostrils, large triangular mouth, micrognathia, and low-set ears. Approximately 10-15% of individuals have developmental delay. Other features include heart defects, renal tract anomalies, rib fusions and nail hypoplasia or dystrophy. Both autosomal recessive and autosomal dominant inheritance have been described 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”. 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. This panel includes sequence deletion/duplication analysis of all the listed genes.