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.
^Gorlin, Robert; Cohen, M. Michael; Hennekam, Raoul (2001). "Syndromes of the head and neck". Keppen–Lubinsky syndrome (4th ed.). New York, U.S.: Oxford University Press. p. 1179.
^De Brasi, D; Brunetti-Pierri, N; Di Micco, P; Andria, G; Sebastio, G (2003). "New syndrome with generalized lipodystrophy and a distinctive facial appearance: confirmation of Keppen-Lubinski syndrome?". American Journal of Medical Genetics. 117A (2): 194–5. doi:10.1002/ajmg.a.10936. PMID12567423.
^Basel-Vanagaite, Lina; Shaffer, Lisa; Chitayat, David (2009). "Keppen-Lubinsky syndrome: Expanding the phenotype". American Journal of Medical Genetics. 149A (8): 1827–9. doi:10.1002/ajmg.a.32975. PMID19610118.