תסמונת קורנליה דה לאנגה
עודכן לאחרונה 22 אוג 2023
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Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.
תיאור
Cornelia de Lange syndrome is a developmental disorder that affects many parts of the body. The features of this disorder vary widely among affected individuals and range from relatively mild to severe.
Cornelia de Lange syndrome is characterised by slow growth before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities of bones in the arms, hands, and fingers. Most people with Cornelia de Lange syndrome also have distinctive facial features, including arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Many affected individuals also have features similar to autism spectrum disorder, a developmental condition that affects communication and social interaction.
Additional signs and symptoms of Cornelia de Lange syndrome can include excessive body hair (hypertrichosis), an unusually small head (microcephaly), hearing loss, and problems with the digestive tract. Some people with this condition are born with an opening in the roof of the mouth called a cleft palate. Seizures, heart defects, and eye problems have also been reported in people with this condition.
Inheritance patterns
The source lists the following possible inheritance patterns: X-linked recessive; Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
BDLS
Brachmann-de Lange syndrome
CdLS
De Lange syndrome
Typus degenerativus amstelodamensis
Related patient information and medicines
Patient information leaflet
תסמונת קרי דו שא
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Patient information leaflet
תסמונת דיוגנס
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Patient information leaflet
צלע צווארית
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Patient information leaflet
אנגינה מיקרווסקולרית
יש no agreed definition for CSX. The underlying cause may be sudden narrowing (spasm) of normal coronary arteries without any evidence of atheromatous fatty plaques. What is cardiac syndrome X. Cardiac syndrome X (CSX) is thought to be a type of angina. In CSX chest pain is felt when the heart works harder but the heart arteries appear to be.
Patient information leaflet
תסמונת טרנר
Turner syndrome is a genetic condition that only affects girls. The most characteristic features of the syndrome are being short, having certain physical features (detailed below), and ovaries that do not work properly. Although there is no cure, there are treatments that can help most girls with Turner syndrome lead relatively normal lives. What.
Patient information leaflet
תסמונת דאון
Down's syndrome (also known as Down syndrome) is a genetic chromosome problem. Someone with Down's syndrome has an extra copy of chromosome 21 in the cells of their body. All people with Down's syndrome have some degree of learning disability. Down's syndrome may be detected before birth (prenatally) or after birth (postnatally). It cannot be.
קריאה נוספת והפניות
- תסמונת קורנליה דה לאנגה; MedlinePlus, National Library of Medicine.
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