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Bardet-Biedl syndrome
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Bardet-Biedl syndrome

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Synopsis

An autosomal recessive disorder involving a mutation in one of a group of genes involved with cilia function. Affected individuals commonly have progressive vision loss, obesity, intellectual disability, hypogonadism, and renal dysplasia. Other common signs and symptoms include short stature, postaxial polydactyly, strabismus, night blindness, retinal dystrophy, and female genitourinary abnormalities. Variable in presentation, onset is typically at birth, with other features developing progressively.

Prognosis for vision is poor and two-thirds to three-fourths of affected patients reach legal blindness by young adulthood. Renal disease becomes life-threatening if left untreated.

Management of multisystem dysfunction requires attentive monitoring, prevention, and appropriate treatments to minimize severity of symptoms. Treatments include physical, dietary, behavioral, speech, and hormone replacement therapies. Corrective surgery, renal transplant, and various pharmacotherapies may be helpful.

For more information, see OMIM.

Codes

ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

SNOMEDCT:
5619004 – Bardet-Biedl syndrome

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Last Updated: 03/29/2017
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Bardet-Biedl syndrome
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Bardet-Biedl syndrome : Night blindness, Short stature, Strabismus
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