19q13.11 microdeletion syndrome

The 19q13.11 microdeletion is characterized by several major features including pre and postnatal growth retardation, slender habitus, severe postnatal feeding difficulties, microcephaly, intellectual deficit with speech disturbance, hypospadias and ectodermal dysplasia presented by scalp aplasia, thin and sparse hair, eyebrows and eyelashes, thin and dry skin and dysplasic nails.

Thin vermilion border

Reduced width of the skin of vermilion border region of upper lip.


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PMID (PMCID)