Rare Pediatrics News

Disease Profile

Genoa syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Antenatal

ICD-10

Q04.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Holoprosencephaly craniosynostosis; Camera Lituania Cohen syndrome; Semilobar holoprosencephaly and primary craniosynostosis

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases

Summary

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.

Symptoms

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.

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

Organizations

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

    Learn more

    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.

      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; https://www.omim.org/entry/601370.