Keppen–Lubinsky syndrome | |
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Other names | Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome |
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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. [1] [2] [3] Keppen-Lubinsky syndrome is caused by mutation in the inwardly rectifying K+ channels encoded by KCNJ6 gene. [4]
Keppen–Lubinsky syndrome | |
---|---|
Other names | Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome |
![]() | |
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. [1] [2] [3] Keppen-Lubinsky syndrome is caused by mutation in the inwardly rectifying K+ channels encoded by KCNJ6 gene. [4]