Individuals with CdLS also have distinctive features of the head and facial (craniofacial) area including an abnormally small head (microcephaly) that may also be unusually short (brachycephaly) a short, thick neck a low hairline a small, broad, upturned nose with nostrils that tip upwards (anteverted nares) neat, arched eyebrows that grow together (synophrys) long, curly eyelashes and/or excessive hair growth on various areas of the body (hypertrichosis). Infants with CdLS may also demonstrate abnormally increased muscle tone (hypertonicity) and have an unusual, low-pitched, growling cry. Many affected infants may frequently “spit up” food that has already been swallowed (regurgitation) and may experience episodes of severe, forceful vomiting (projectile vomiting). Individuals may experience feeding, chewing, and swallowing difficulties during the first several months/years of life. CdLS growth charts are available to compare growth to other affected individuals. Most affected infants may have a low birth weight and may fail to gain weight or grow at the expected rate (failure to thrive). Individuals with CdLS exhibit abnormal growth delays that affect both weight and linear growth before and after birth (prenatal and postnatal growth retardation). The range and severity of symptoms and physical characteristics may vary greatly from person to person. It is now referred to as Cornelia de Lange syndrome spectrum because of the broad nature of the presentations.ĬdLS is a very rare disorder characterized by growth delays distinctive facial features malformations of the hands, feet, arms, and/or legs (limb anomalies) other physical abnormalities intellectual disability and/or developmental delays. Other genes may be found to be associated with CdLS in the future. Most affected individuals have an abnormal gene as a result of a new gene mutation and do not have an affected parent. Seven genes have been found to be associated with CdLS including the NIPBL gene on chromosome 5, the SMC1A gene on the X chromosome, the SMC3 gene on chromosome 10, the Rad21 gene on chromosome 8, the HDAC8 gene on the X chromosome, the ANKRD11 on chromosome 16 and the BRD4 gene on chromosome 19. The range and severity of associated symptoms and findings may be extremely variable from person to person.ĬdLS can be inherited as an autosomal dominant condition or an X-linked condition. Infants with CdLS may also have feeding and breathing difficulties an increased susceptibility to respiratory infections a low-pitched “growling” cry and low voice heart defects delayed skeletal maturation hearing loss or other physical abnormalities.
Less commonly, there may be absence of the forearms, hands, and fingers. Affected individuals may also have distinctive malformations of the limbs, such as unusually small hands and feet, inward deviation (clinodactyly) of the fifth fingers, and webbing (syndactyly) of certain toes. Additional characteristic facial abnormalities may include thin, downturned lips low-set ears arched, well-defined eyebrows that grow together across the base of the nose (synophrys) an unusually low hairline on the forehead and the back of the neck and curly, unusually long eyelashes. Many infants and children with the disorder have an unusually small, short head (microbrachycephaly) a prominent vertical groove between the upper lip and nose (philtrum) a depressed nasal bridge upturned nostrils (anteverted nares) and a small chin (micrognathia). Associated symptoms and findings typically include delays in physical development before and after birth (prenatal and postnatal growth retardation) characteristic abnormalities of the head and facial (craniofacial) area, resulting in a distinctive facial appearance malformations of the hands and arms (upper limbs) and mild to severe intellectual disability.
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