National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Genoa syndrome


Other Names:
Holoprosencephaly craniosynostosis; Camera Lituania Cohen syndrome; Semilobar holoprosencephaly and primary craniosynostosis
Categories:
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

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of retinal pigmentation 0007703
Brachycephaly
Short and broad skull
0000248
Brachydactyly
Short fingers or toes
0001156
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Cognitive impairment
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] 		0100543
Coxa valga 0002673
Craniosynostosis 0001363
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ] 		0002750
Epicanthus
Eye folds
Prominent eye folds
[ more ] 		0000286
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Holoprosencephaly 0001360
Hypoplastic vertebral bodies
Underdeveloped back bones
0008479
Hypotelorism
Abnormally close eyes
Closely spaced eyes
[ more ] 		0000601
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Muscular hypotonia
Low or weak muscle tone
0001252
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull
[ more ] 		0001357
Short distal phalanx of finger
Short outermost finger bone
0009882
Short palpebral fissure
Short opening between the eyelids
0012745
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Upslanted palpebral fissure
Upward slanting of the opening between the eyelids
0000582
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Coronal craniosynostosis 0004440
Lambdoidal craniosynostosis 0004443
Semilobar holoprosencephaly 0002507
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • 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.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

  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.