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Keppen–Lubinsky syndrome

Field	Value
synonyms	Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
image	File:Autosomal dominant - en.svg
image_size	160px
caption	This condition is inherited in an autosomal dominant manner

Keppen–Lubinsky syndrome is an extremely rare congenital disorder. The minimal clinical criteria for the Keppen–Lubinsky syndrome are as follows: normal growth parameters at birth, postnatal growth failure, peculiar face with an aged appearance (large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth), skin tightly adherent to facial bones, generalized lipodystrophy, microcephaly, and development delay. Keppen-Lubinsky syndrome is caused by mutation in the inwardly rectifying K+ channels encoded by KCNJ6 gene.

References

(2001). "Keppen–Lubinsky syndrome". Oxford University Press.
(2003). "New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome?". American Journal of Medical Genetics.
(2009). "Keppen-Lubinsky syndrome: Expanding the phenotype". American Journal of Medical Genetics.
(2015-02-05). "Keppen-Lubinsky Syndrome Is Caused by Mutations in the Inwardly Rectifying K+ Channel Encoded by KCNJ6". The American Journal of Human Genetics.

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rare-genetic-syndromes syndromes-with-intellectual-disability syndromes-with-craniofacial-abnormalities syndromes-affecting-the-skin syndromes-with-microcephaly

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