Kabuki syndrome
अंतिम अद्यतन 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.
विवरण
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
रीफीडिंग सिंड्रोम
रीफीडिंग सिंड्रोम was first described in Far East prisoners after the second world war when they developed हृदय विफलता after starting to खाओ again after a prolonged period of starvation. What is refeeding syndrome. रीफीडिंग सिंड्रोम है a dangerous and life threatening shift of fluids and body salts (electrolytes) that can occur when.
Patient information leaflet
हाइपरमोबिलिटी स्पेक्ट्रम विकार
हाइपरमोबिलिटी स्पेक्ट्रम विकार 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
भ्रूण शराब सिंड्रोम
FAS is a pattern का disabilities that can develop in a baby 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
क्री डू चैट सिंड्रोम
क्री डू चैट सिंड्रोम is a chromosome problem caused by a missing piece of chromosome 5. यह 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
थप्पड़ गाल सिंड्रोम
थप्पड़ गाल सिंड्रोम है 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
शिशु मृत्यु
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. शिशु मृत्यु is more properly known as sudden infant death syndrome (SIDS). It is the term used to describe the.
अधिक पठन और संदर्भ
- Kabuki syndrome; MedlinePlus, National Library of Medicine.
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