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Oral-facial-digital type 1 syndrome
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This chapter discusses oral-facial-digital type 1 syndrome (OFD1), which represents a rare syndromic form of inherited renal cystic disease associated with dysfunction of primary cilia. The disease is transmitted as an X-linked dominant male lethal trait. Embryonic lethality in affected hemizygous males is usually reported in the first and second trimesters of pregnancy. The clinical spectrum for this disease includes malformation of the face, oral cavity, and digits with a high degree of phenotypic variability, even within the same family, possibly due to X-inactivation. Renal cystic disease is present in over 65% of adult cases and is usually observed in the second and third decades of life.
Title: Oral-facial-digital type 1 syndrome
Description:
This chapter discusses oral-facial-digital type 1 syndrome (OFD1), which represents a rare syndromic form of inherited renal cystic disease associated with dysfunction of primary cilia.
The disease is transmitted as an X-linked dominant male lethal trait.
Embryonic lethality in affected hemizygous males is usually reported in the first and second trimesters of pregnancy.
The clinical spectrum for this disease includes malformation of the face, oral cavity, and digits with a high degree of phenotypic variability, even within the same family, possibly due to X-inactivation.
Renal cystic disease is present in over 65% of adult cases and is usually observed in the second and third decades of life.
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