Also called by the names Lejeune’s syndrome, 5p minus syndrome and chromosome 5p deletion syndrome, cri du chat syndrome is a genetic disorder caused by the absence of a part of chromosome 5. Patients usually exhibit cat-like cries. It affects approximately 1 in 20,000 live births. Aside from knowing the different signs and symptoms, causes as well as treatments for this medical condition, it is good to learn more about its history including who discovered cri du chat syndrome.
The Discovery of Cri Du Chat Syndrome
Who discovered cri du chat syndrome? In 1963, French geneticist Jerome Lejeune first described this disease. He was also a pro-life pediatrician who discovered the connection between chromosome abnormalities and diseases. He devoted a major part of his career treating children affected by Down’s syndrome.
Additional Facts and Other Highly Important Information
The areas primarily affected by cri du chat syndrome are the nervous system and the larynx, which cause the cries of infants to sound like meowing kittens. Aside from this, there are other noticeable signs that individuals are suffering from this disease such as poor growth, low birth weight as well as feeding problems due to difficulty in sucking and swallowing. Likewise, there are severe delays in the motor, speech and cognitive abilities of affected individuals.
Most of the time, patients suffer from constipation, excessive dribbling and unusual facial features. Furthermore, it is also possible for them to have growth retardation, microcephaly and hypotonia. In addition to these, they may also have epicanthal folds, hypertelorism and a round face with full cheeks. Cardiac defects are also possible like tetralogy of Fallot, patent ductus arteriosus and ventricular septal defect. You can also notice other visible signs including short fingers, down-turned mouth and flat nasal bridge.
According to some studies, there are cases when patients have thymic dysplasia, preauricular tags as well as cleft lip and palate. Likewise, rare renal malformations are very much possible including hydronephrosis, renal ectopia and horseshoe kidneys. In addition, they may also experience different kinds of dermatoglyphics such as increased whorls on digits, distal axial triradius and transverse flexion creases.
Once these patients reach the late childhood stage and adolescence, there is a strong possibility for them to develop signs like prominent supraorbital ridges, microcephaly and intellectual disability. Furthermore, they may also suffer from scoliosis, severe malocclusion and deep-set eyes. Because this disease is identified by the unusual cry as well as the different physical problems, proper diagnosis can be achieved through genetic testing and genetic counseling.