Crisponi syndrome

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Long philtrum

Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.


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PMID (PMCID)
15637710
 MALE Infant, Newborn
Neonatal paroxysmal trismus and camptodactyly: the Crisponi syndrome.
Nannenberg EA, Bijlmer R, Van Geel BM, Hennekam RC.
Am J Med Genet A. 2005;133A(1):90-2.
The Crisponi syndrome is an infrequently described syndrome characterized by extensive muscular contractions in the face after even minimal stimuli, hypertonia, camptodactyly, and typical facial features (chubby cheeks, broad nose with anteverted nares, and long philtrum).