Autosomal recessive Robinow syndrome

Autosomal recessive Robinow syndrome (ARRS), also known as Robinow syndrome type 1 or Robinow dwarfism, is a rare genetic disorder characterized by distinctive facial features, skeletal abnormalities, and genital hypoplasia. The condition is caused by pathogenic variants in the ROR2 gene, which plays a critical role in skeletal development and cell signaling through the Wnt signaling pathway. ARRS is generally considered more severe than the autosomal dominant form of Robinow syndrome. The hallmark facial features include a broad, prominent forehead (frontal bossing), widely spaced eyes (hypertelorism), a short upturned nose with a depressed nasal bridge, and midface hypoplasia, giving the face a 'fetal' appearance. Skeletal manifestations are prominent and include mesomelic limb shortening (particularly affecting the forearms), short stature, hemivertebrae and vertebral segmentation defects leading to kyphoscoliosis, brachydactyly, and rib anomalies. Genital hypoplasia is a characteristic finding, with micropenis and cryptorchidism in males and clitoral hypertrophy or labial hypoplasia in females. Additional features may include dental anomalies, congenital heart defects (particularly pulmonary stenosis and other outflow tract abnormalities), renal anomalies, and nail dysplasia. There is currently no cure for autosomal recessive Robinow syndrome. Management is multidisciplinary and symptomatic, involving orthopedic interventions for skeletal abnormalities, surgical correction of vertebral and rib defects when necessary, cardiac monitoring and intervention for heart defects, urological management for genital and renal anomalies, dental care, and growth hormone evaluation. Genetic counseling is recommended for affected families. Developmental outcomes are generally favorable with appropriate supportive care, though the degree of short stature and skeletal involvement can significantly impact quality of life.

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