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 | |
References
External links
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