Kabuki syndrome
آخر تحديث 1 Nov 2022
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Kabuki syndrome is a disorder that can affect many parts of the body. It is characterised by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese Kabuki theater.
الوصف
Kabuki syndrome is a disorder that can affect many parts of the body. It is characterised by distinctive facial features including arched eyebrows; long eyelashes; long openings of the eyelids (long palpebral fissures) with the lower lids turned out (everted) at the outside edges; a flat, broadened tip of the nose; and large protruding earlobes. The name of this disorder comes from the resemblance of its characteristic facial appearance to stage makeup used in traditional Japanese Kabuki theater.
People with Kabuki syndrome may have mild to severe developmental delay and intellectual disability. Affected individuals may also have seizures, an unusually small head size (microcephaly), or weak muscle tone (hypotonia). Some have eye problems such as rapid, involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).
Other characteristic features of Kabuki syndrome include short stature and skeletal abnormalities such as abnormal side-to-side curvature of the spine (scoliosis), short fifth (pinky) fingers, or problems with the hip and knee joints. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched, and dental problems are common in affected individuals. People with Kabuki syndrome may also have fingerprints with unusual features and fleshy pads at the tips of the fingers. These prominent finger pads are called fetal finger pads because they normally occur in human fetuses; in most people they disappear before birth.
A wide variety of other health problems occur in some people with Kabuki syndrome. Among the most commonly reported are heart abnormalities, frequent ear infections (otitis media), hearing loss, and early puberty.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Kabuki make-up syndrome
Kabuki makeup syndrome
KMS
Niikawa-Kuroki syndrome
Related patient information and medicines
Patient information leaflet
متلازمة إعادة التغذية
متلازمة إعادة التغذية was first described in Far East prisoners after the second world war when they developed فشل القلب after starting to eat again after a prolonged period of starvation. What is refeeding syndrome. متلازمة إعادة التغذية هو a dangerous and life threatening shift of fluids and body salts (electrolytes) that can occur when.
Patient information leaflet
اضطرابات طيف فرط الحركة
اضطرابات طيف فرط الحركة include all people with what used to be called joint hypermobility syndrome, and before that benign joint hypermobility syndrome. Hypermobility spectrum disorders (HSDs) are a group of conditions that involve joint hypermobility (increased range of motion in the joints, sometimes referred to as "loose joints") and.
Patient information leaflet
متلازمة الكحول الجنينية
FAS is a pattern من disabilities that can develop in a طفلك as it grows in the womb (uterus) because the mother drank alcohol whilst pregnant and the baby is therefore exposed to alcohol before birth. Fetal alcohol syndrome (FAS) is part of a group of conditions called fetal alcohol spectrum disorders (FASDs). These are a range of disabilities a.
Patient information leaflet
متلازمة بكاء القط
متلازمة بكاء القط is a chromosome problem caused by a missing piece of chromosome 5. ال syndrome is called cri du chat (French for cry of the cat) because affected babies often have a high-pitched cry. Not all babies with the missing piece of chromosome 5 will develop cri du chat syndrome. Cri du chat syndrome may cause a variety of.
Patient information leaflet
متلازمة الخد المصفوع
متلازمة الخد المصفوع هو normally a mild, short illness. However, the rash may appear to be quite dramatic. However, it can cause harm to an unborn baby so women who are pregnant a... What is slapped cheek syndrome. Slapped cheek syndrome, sometimes called fifth disease or erythema infectiosum, is an infection caused by the parvovirus B19 virus..
Patient information leaflet
موت المهد
However, you can reduce the risk of cot death by the measures detailed below. The most important are to lay your baby on his or her back to sleep (not on their front or side) and to create a smoke-free zone for your baby. What is cot death. موت المهد is more properly known as sudden infant death syndrome (SIDS). It is the term used to describe the.
قراءة إضافية ومراجع
- Kabuki syndrome; MedlinePlus, National Library of Medicine.
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1 Nov 2022 | أحدث إصدار
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