Keppen–Lubinsky syndrome is an extremely rare

congenital disorder A birth defect is an abnormal condition that is present at childbirth, birth, regardless of its cause. Birth defects may result in disability, disabilities that may be physical disability, physical, intellectual disability, intellectual, or dev ...

. The minimal clinical criteria for the Keppen–Lubinsky syndrome are as follows: normal growth parameters at birth,

postnatal The postpartum (or postnatal) period begins after childbirth and is typically considered to last for six to eight weeks. There are three distinct phases of the postnatal period; the acute phase, lasting for six to twelve hours after birth; the ...

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 Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. The medical condition is characterized by abnormal or degenerative conditions of the body's adipose tissu ...

, microcephaly, and development delay. Keppen-Lubinsky syndrome is caused by mutation in the inwardly rectifying K+ channels encoded by

KCNJ6 G protein-activated inward rectifier potassium channel 2 is a protein that in humans is encoded by the ''KCNJ6'' gene. Mutation in KCNJ6 gene has been proposed to be the cause of Keppen-Lubinsky Syndrome (KPLBS). Function Potassium channels ...

gene.

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Rare genetic syndromes Syndromes with intellectual disability Syndromes with craniofacial abnormalities Syndromes affecting the skin Syndromes with microcephaly {{Genetic-disorder-stub}