Keppen–Lubinsky syndrome explained

Synonyms:	Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

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.^{[1] [2] [3]} Keppen-Lubinsky syndrome is caused by mutation in the inwardly rectifying K+ channels encoded by KCNJ6 gene.^[4]

Notes and References

1. Book: Robert . Gorlin . M. Michael . Cohen . Raoul . Hennekam . 2001 . Keppen–Lubinsky syndrome . Syndromes of the head and neck . 4th . New York, U.S. . Oxford University Press . 1179 . 9780199747726 . https://books.google.com/books?id=IQGRwClxPTEC .
2. De Brasi . D . Brunetti-Pierri . N . Di Micco . P . Andria . G . Sebastio . G . New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome? . 194–5 . 2003 . 10.1002/ajmg.a.10936 . 12567423 . 117A . 2 . American Journal of Medical Genetics. 38839849 . free .
3. Lina . Basel-Vanagaite . Lisa . Shaffer . David . Chitayat . American Journal of Medical Genetics . 149A . 8 . 1827–9 . 2009 . Keppen-Lubinsky syndrome: Expanding the phenotype . 19610118 . 10.1002/ajmg.a.32975. 24985487 .
4. Masotti. Andrea. Uva. Paolo. Davis-Keppen. Laura. Basel-Vanagaite. Lina. Cohen. Lior. Pisaneschi. Elisa. Celluzzi. Antonella. Bencivenga. Paola. Fang. Mingyan. 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. English. 96. 2. 295–300. 10.1016/j.ajhg.2014.12.011. 0002-9297. 25620207. 4320262.