“White Sutton syndrome”的意思、由来-开放百科全书

词条

White Sutton syndrome

释义

Genetics
Clinical picture
References

{{distinguish|Sutton's disease}}White Sutton syndrome (WHSUS) is a rare neurodevelopmental disorder that affects different systems of the human body. It is mainly characterized by developmental delay, intellectual disability, craniofacial abnormalities and commonly features of autism spectrum disorder (ASD).^[1]

Genetics

It is caused by heterozygous mutation in the POGZ gene on chromosome 1q21. The condition is inherited in an autosomal dominant pattern.^[2]

Clinical picture

Patients with White-Sutton syndrome might have the following symptoms^[1]:

Developmental delay, with speech and language usually being more delayed than motor skills such as walking.
Intellectual disability which can range from borderline normal to severe.
Craniofacial features include microcephaly, brachycephaly, hypertelorism, midface hypoplasia (a flat or sunken appearance of the middle of the face)
Neuropsychiatric: hyperactivity, sleeping difficulties
Features of autism spectrum disorder and overly friendly behavior.
Sensorineural hearing loss and visual defects (mainly farsightedness, strabismus)
Gastrointestinal problems (e.g. poor feeding, gastroesophageal reflux, constipation)^[3]
Obesity, short stature
Diaphragmatic hernia

References

1. ^¹{{Cite web|url=https://ghr.nlm.nih.gov/condition/white-sutton-syndrome|title=White-Sutton syndrome|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2018-11-23}}
2. ^{{Cite web|url=https://www.omim.org/entry/616364|title=OMIM Entry - # 616364 - WHITE-SUTTON SYNDROME; WHSUS|website=www.omim.org|language=en-us|access-date=2018-11-23}}
3. ^{{Cite web|url=https://www.mendelian.co/white-sutton-syndrome-whsus|title=WHITE-SUTTON SYNDROME; WHSUS {{!}} MENDELIAN.CO|website=www.mendelian.co|language=es|access-date=2018-11-23}}

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