" /> Trichorhinophalangeal Syndrome Type II - CISMeF





Preferred Label : Trichorhinophalangeal Syndrome Type II;

NCIt synonyms : Langer-Giedion Syndrome;

NCIt definition : A rare, usually sporadic and less frequently familiar syndrome caused by deletions on the long arm of chromosome 8. It is characterized by distinctive facial appearance (sparse hair, pear-shaped nose, and large ears), multiple exostoses, redundant skin, and mental retardation.;

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30/07/2025


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