Cornelia de Lange syndrome

Cornelia de Lange syndromeCornelia de Lange syndrome Description, Causes and Risk Factors: Alternative Name: Amsterdam syndrome, de Lange syndrome. ICD-10: Q87.1. Abbreviation: CDLS. Cornelia de Lange syndrome is relatively uncommong multiple congenital anomaly of unkown cause. Incidence of this entity is variable, ranging from 1/30000 to 1/50000 in different population group. There is no racial predliction. It is slightly more common in female as compared to males. Cornelia de Lange syndrome is usually divided in to two types - the more severely affected Classic CDLS and the less severely affected mild CDLS. At present, the cause is not clearly known, although it is suspected that a gene may be responsible. At present there are several research programs underway which are attempting to find answers to the cause of Cornelia de Lange syndrome. CDLS is an inherited condition caused by one of several possible abnormalities in the genes. According to investigators mutations in the NIPBL, SMC1A and SMC3 genes cause the syndrome. NIPBL gene mutations are the most common cause, accounting for about 50% of cases. This gene is responsible for producing delangin, a protein involved in directing development before birth. When the NIPBL gene is abnormal there is an abnormal or non-functioning version of delangin which causes the characteristic signs of Cornelia de Lange syndrome. Almost all cases occur in people with no family history of the condition, and result from new mutations of the specific genes. Very rarely are two children in the same family both affected. Symptoms: Typical symptoms of Cornelia de Lange syndrome may include low birth weight, failure to thrive, developmental delays, limb defects, a small head, thin eyebrows that meet in the middle, long eyelashes, crescent shaped mouth, short nose, increased body hair, small hands, small feet, wide spaced teeth, vision complications, hearing complications, cleft palate, feeding complications, heart defects, partial joining of the toes, low-set ears, GERD and seizures. Someindividuals also have limb anomalies, including missing limbs or portions of limbs, usually fingers, hands,or forearms.Sensory problems are also possible and may include: small, low-set ears, hearing loss, misaligned eyes (strabismus), shakyeyes (nystagmus), nearsightedness (myopia), dry eyes (blepharitis), and droopy eyelids (ptosis). The range andseverity of associated symptoms and findings may be extremely variable from case to case. Children with CDLS are slow learners, although learning disabilities range from mild to severe. The development of speech is often very delayed and many with CDLS never learn to speak fluently, although they may learn to use some sign language. Diagnosis: The diagnosis of Cornelia de Lange syndrome primarily a clinical one based on signs and symptoms observed through an evaluation by a physician, including a medical history, physical examination and laboratory tests. Although three separate gene mutations have been identified as causing CDSL, not every person tests positive for one of these gene changes. If you suspect your child has CDSL, a genetic specialist can help. No specific antenatal test is available, but ultrasound imaging may show warning signs in an unborn child such as growth retardation, limb defects, hirsutism, and diaphragmatic hernia. Treatment: There is no cure, but medical therapies and procedures can often help with the symptoms. Management of patients suffering from Cornelia de Lange syndrome can perfectly done by a team approach including cardiologist, gastroenterologist, endocrinologist, urologist, ENT, and dental surgeon. Speech therapy and special educational support are very important in helping the child top reach their potential. Children with CDLS have been found to have strengths in perceptual organization, visuospatial memory, and fine motor skills. Teaching strategies should emphasize using visual methods of teaching (e.g., computers and augmentative communication devices with pictures or symbols) rather than traditional verbal methods of instruction. NOTE: The above information is educational purpose. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.


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