Robinow syndrome is an extremely rare inherited disorder characterized by mild to moderate short stature due to growth delays after birth (postnatal growth retardation); distinctive abnormalities of the head and facial (craniofacial) area; additional skeletal malformations; and/or genital abnormalities. The facial features of infants with Robinow syndrome resemble those of an eight-week-old fetus; within the medical literature, this condition is often referred to as "fetal face." Characteristic craniofacial features may include an abnormally large head (macrocephaly) with a bulging forehead (frontal bossing); widely spaced eyes (ocular hypertelorism) that are abnormally prominent; a small, upturned nose with nostrils that are flared forward (anteverted); and/or a sunken (depressed) nasal bridge. Skeletal malformations may include forearm bones (radius and ulna) that are unusually short (forearm brachymelia), abnormally short fingers and toes, permanent fixation of the fifth fingers in a bent position (clinodactyly), unusually small hands with broad thumbs, malformation of the ribs, abnormal side-to-side curvature of the spine (scoliosis), and/or underdevelopment of one side of the bones in the middle (thoracic) portion of the spinal column (hemivertebrae). Genital abnormalities associated with Robinow syndrome may include an abnormally small penis (micropenis) and failure of the testes to descend into the scrotum (cryptorchidism) in affected males and underdevelopment (hypoplasia) of the clitoris and the outer, elongated folds of skin on either side of the vaginal opening (labia majora) in affected females. The range and severity of symptoms vary from case to case.
In some cases, Robinow syndrome has autosomal dominant inheritance; in other cases, the disorder may have an autosomal recessive mode of inheritance. According to the medical literature, individuals with the recessive form of Robinow syndrome may have more numerous abnormalities of the ribs and the bones of the spinal column (vertebrae) than in the dominant form of the disorder. In addition, the symptoms and physical findings associated with the recessive form tend to be more severe.