Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome

A rare, autosomal dominant inherited syndrome often caused by mutations in the SKI gene. It is characterized by premature fusion of skull bones and distinctive facial features, including a long, narrow head, hypertelorism, exophthalmos, downslanting palpebral fissures, a high, narrow palate, micrognathia, and low-set ears. The bodies of affected individuals resemble those of people with Marfan syndrome.

Disease Alternative Name

shprintzen-goldberg craniosynostosis syndrome

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