Autosomal recessive faciodigitogenital syndrome

A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.

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)