Umbilical or inguinal hernias are associated with a number of known genetic conditions. Hepatosplenomegaly is a common finding in children with storage diseases. The genitalia should be definitively male or female. Large testes are seen in males with fragile X syndrome, and small testes are common in Prader-Willi syndrome. Delayed development of the secondary sexual characteristics is common in both Turner syndrome and Klinefelter syndrome.
Ambiguous genitalia is observed in children with a number of different genetic disorders.
It is important to emphasize that a solitary minor malformation should not cause undue concern. The presence of a number of major and minor malformations in a child with failure to thrive, short stature, microcephaly or developmental delay is highly suggestive of a chromosomal disorder or a malformation syndrome and should result in a genetic consultation. In addition to noting minor malformations, it is also important to assess an individual's psychomotor development during a physical examination by careful observation or the use of formal assessment tools. If a delay is noted, it is important to document whether a skill was acquired then lost. The loss of ability may be associated with a number of inborn errors of metabolism or adult onset neurodegenerative disorders.