Rare Hematology News
Advertisement
Disease Profile
Genoa syndrome
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 >
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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
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 |
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 | |
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 |
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] |
0000252 | |
Muscular |
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 |
Decreased body height
Small stature
[ more ] |
0004322 | |
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 | ||
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
-
Children's Craniofacial Association
13140 Coit Road Suite 517
Dallas, TX 75240
Toll-free: 1-800-535-3643
Telephone: +1-214-570-9099
Fax: +1-214-570-8811
E-mail: [email protected]
Website: https://ccakids.org/ -
FACES: The National Craniofacial Association
PO Box 11082
Chattanooga, TN 37401
Toll-free: 800-332-2373
Telephone: 423-266-1632
E-mail: [email protected]
Website: https://www.faces-cranio.org/ -
The Carter Centers for Brain Research in Holoprosencephaly and Related Malformations
Texas Scottish Rite Hospital for Children, Department of Neurology
2222 Welborn Street
Dallas, TX 75219-3993
Toll-free: (800) 421-1121
Telephone: (214) 559-8411
E-mail: [email protected]
Website: https://www.hperesearch.org/index.html
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
- 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.
- Camera G, Lituania M, Cohen MM Jr. Holoprosencephaly and primary craniosynostosis: the Genoa syndrome. Am J Med Genet. December 1993; 47(8):1161-1165.
- 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.
- HOLOPROSENCEPHALY, SEMILOBAR, WITH CRANIOSYNOSTOSIS. OMIM. 1996; https://www.omim.org/entry/601370.