Prostate Restored
Prostate Restored
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Chromosome 4, Trisomy 4p is a rare chromosomal disorder in which all or a portion of the short arm (p) of chromosome 4 appears three times (trisomy) rather than twice in cells of the body. Associated symptoms and physical findings may vary greatly in range and severity from case to case.
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Learn More »The symptoms and physical findings associated with Chromosome 4, Trisomy 4p may be variable. However, in many cases, the disorder is characterized by growth deficiency before and after birth (prenatal and postnatal growth retardation); feeding problems during early infancy; and increased muscle tone (hypertonia) in the first months of life, followed by diminished muscle tone (hypotonia). Affected infants may also have respiratory difficulties, potentially leading to life-threatening complications. Many infants with Trisomy 4p also have characteristic malformations of the head and facial (craniofacial) area. These may include an abnormally small head (microcephaly); a relatively small, flat forehead; a flat or depressed nasal bridge with a “bulb-shaped” (bulbous) nasal tip; and large, malformed (dysplastic) ears. Affected infants may also have widely spaced eyes (ocular hypertelorism) with abnormal prominence of the ridges above the eyes (supraorbital ridges). Additional craniofacial abnormalities may be present, such as a prominent chin, a relatively large tongue (macroglossia), irregularities of the teeth, and a short neck. Trisomy 4p may also be characterized by abnormalities of the hands and feet. For example, there may be inward deviation or bending (clinodactyly) of the fifth fingers (“pinkies”); permanent flexion of one or more fingers (camptodactyly); or malformations of the feet (e.g., “rocker-bottom” feet) with abnormal prominence of the heels. Some affected infants may also have unusually long, slender fingers or toes (arachnodactyly) or underdeveloped (hypoplastic) fingernails and toenails. Additional skeletal malformations may be associated with Trisomy 4p. These may include dislocation of the hip; abnormal front-to-back and sideways curvature of the spine (kyphoscoliosis); malformation of certain bones of the spinal column (vertebrae); or absence of certain ribs or the presence of additional ribs. In addition, certain joints may become permanently flexed or extended in various fixed postures (joint contractures), resulting in limited movements. Some individuals with Trisomy 4p may also have additional physical abnormalities. For example, affected males may have an unusually small penis (micropenis), abnormal placement of the urinary opening on the underside of the penis (hypospadias), or undescended testes (cryptorchidism). In some cases, additional abnormalities may include protrusion of portions of the intestine into muscles of the groin (inguinal hernia); structural abnormalities of the heart at birth (congenital heart defects); kidney (renal) malformations; or absence of the band of nerve fibers that joins the two hemispheres of the brain (agenesis of the corpus callosum). Some affected individuals may also develop episodes of uncontrolled electrical activity in the brain (seizures). In some cases, eye (ocular) abnormalities may also be present, such as abnormal smallness of the eyes (microphthalmia) or absence or defects of ocular tissue (colobomata) involving the middle region of the eyes (uvea). Trisomy 4p is also typically characterized by severe mental retardation. Affected infants and children have delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardation). In addition, many may have poor language development or lack the ability to speak.
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