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Diseases

Genetic and Rare Diseases Information Center (GARD)

Genoa syndrome


Other Names for this Disease
  • Holoprosencephaly craniosynostosis
  • Camera Lituania Cohen syndrome
  • Semilobar holoprosencephaly and primary craniosynostosis
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Overview

Genoa syndrome is a rare condition that primarily affects the brain and skull. Babies with this condition are generally born with semilobar holoprosencephaly, a disorder caused by failure of the developing brain to sufficiently divide into the double lobes of the cerebral hemispheres. They later develop craniosynostosis (the premature closure of one or more of the fibrous joints between the bones of the skull before brain growth is complete). Genoa syndrome also appears to be associated with other skeletal abnormalities, including those of the hands, and distinctive facial features.[1][2][3][4] The underlying genetic cause of the condition is currently unknown. Some reports suggest that Genoa syndrome may be inherited in an autosomal recessive manner.[1][2] Treatment is supportive and based on the signs and symptoms present in each person.
Last updated: 2/23/2016

References

  1. Hacihamdioglu B, Siklar Z, Savas Erdeve S, Berberoglu M, Deda G, Tiras ST, Fitöz S, Öcal G. Genoa syndrome and central diabetes insipidus: a case report. J Clin Res Pediatr Endocrinol. 2010; 2(2):89-91.
  2. Camera G, Lituania M, Cohen MM Jr. Holoprosencephaly and primary craniosynostosis: the Genoa syndrome. Am J Med Genet. December 1993; 47(8):1161-1165.
  3. Lapunzina P, Musante G, Pedraza A, Prudent L, Gadow E. Semilobar holoprosencephaly, coronal craniosynostosis, and multiple congenital anomalies: a severe expression of the Genoa syndrome or a newly recognized syndrome?. Am J Med Genet. August 2001; 102(3):258-260.
  4. HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS. OMIM. 1996; http://www.omim.org/entry/601370.
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In Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Genoa syndrome. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Holoprosencephaly craniosynostosis
  • Camera Lituania Cohen syndrome
  • Semilobar holoprosencephaly and primary craniosynostosis
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.