" /> Oral-facial-digital syndrome - CISMeF





ICD-11 code : LD25.00;

Preferred Label : Oral-facial-digital syndrome;

ICD-11 definition : A condition caused by failure of the head and digits to correctly develop during the antenatal period, due to mutation of the OFD1 gene. This condition may be associated with cleft or lobed tongue, noncancerous tumors or nodules of the tongue, abnormal shape or number of teeth, cleft palate, hyperplastic frenula of the lip or gums, cleft lip, hypertelorism, wide nose with broad, flat nasal bridge, syndactyly, brachydactyly, clinodactyly, polydactyly, polycystic kidney disease, neurological problems, bone abnormalities, vision loss, or heart defects.;

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A condition caused by failure of the head and digits to correctly develop during the antenatal period, due to mutation of the OFD1 gene. This condition may be associated with cleft or lobed tongue, noncancerous tumors or nodules of the tongue, abnormal shape or number of teeth, cleft palate, hyperplastic frenula of the lip or gums, cleft lip, hypertelorism, wide nose with broad, flat nasal bridge, syndactyly, brachydactyly, clinodactyly, polydactyly, polycystic kidney disease, neurological problems, bone abnormalities, vision loss, or heart defects.

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25/05/2025


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