Rare Rheumatology News
Advertisement
Disease Profile
Gordon 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.
Unknown
Age of onset
Neonatal
ICD-10
Q68.8
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)
Arthrogryposis distal type 3; Distal arthrogryposis type 3; DA3;
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases
Summary
Gordon
Gordon syndrome is caused by genetic changes (
Symptoms
Other signs and symptoms may include:[2]
• A split in the soft hanging
•
• Hip dislocation
• Abnormal backward or side to side curvature of spine (
• Drooping of the eyelids (
• An extra skin fold at the corner of the eyes (epicanthal folds)
• Webbing of the fingers and/or toes (
• A short, webbed neck (pterygium colli)
• Undescended
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 | ||
Camptodactyly of finger |
Permanent flexion of the finger
|
0100490 |
Talipes | 0001883 | |
30%-79% of people have these symptoms | ||
Decreased muscle mass | 0003199 | |
High palate |
Elevated palate
Increased palatal height
[ more ] |
0000218 |
5%-29% of people have these symptoms | ||
Cleft palate |
Cleft roof of mouth
|
0000175 |
Clinodactyly of the 5th finger |
Permanent curving of the pinkie finger
|
0004209 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Facial asymmetry |
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] |
0000324 |
Finger syndactyly | 0006101 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Limitation of joint mobility |
Decreased joint mobility
Decreased mobility of joints
Limited joint mobility
Limited joint motion
[ more ] |
0001376 |
Ophthalmoplegia |
Eye muscle paralysis
|
0000602 |
Pectus excavatum |
Funnel chest
|
0000767 |
Scoliosis | 0002650 | |
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
1%-4% of people have these symptoms | ||
Global |
0001263 | |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal rib cage morphology |
Abnormality of the rib cage
|
0001547 |
Arthrogryposis multiplex congenita | 0002804 | |
0000006 | ||
Bifid uvula | 0000193 | |
Camptodactyly of toe | 0001836 | |
Dislocated hip since birth
|
0001374 | |
Cutaneous finger syndactyly |
Webbed fingers
Webbed skin of fingers
[ more ] |
0010554 |
Decreased hip abduction | 0003184 | |
Distal arthrogryposis | 0005684 | |
Down-sloping shoulders |
Rounded shoulders
Rounded, sloping shoulders
Sloping shoulders
[ more ] |
0200021 |
Epicanthus |
Eye folds
Prominent eye folds
[ more ] |
0000286 |
Knee flexion |
0006380 | |
Kyphoscoliosis | 0002751 | |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Overlapping toe |
Overlapping toes
Overriding toes
[ more ] |
0001845 |
Ptosis |
Drooping upper eyelid
|
0000508 |
Short neck |
Decreased length of neck
|
0000470 |
Short phalanx of finger |
Short finger bones
|
0009803 |
Single transverse palmar crease | 0000954 | |
Submucous cleft hard palate | 0000176 | |
Talipes equinovarus |
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] |
0001762 |
Thoracolumbar scoliosis | 0002944 | |
Ulnar deviation of the hand or of fingers of the hand | 0001193 |
Cause
Treatment
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
-
Arthrogryposis Multiplex Congenita Support Inc.
P.O. Box 6291
Spartanburg, SC 29304
Toll-free: 1-805-55-AMCSI (1-805-552-6274)
Telephone: +1-805-552-6274
E-mail: bod@amcsupport.org
Website: https://amcsupport.org
Organizations Providing General Support
-
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS Information Clearinghouse)
One AMS Circle
Bethesda, MD 20892-3675
E-mail: NIAMSinfo@mail.nih.gov
Website: https://www.niams.nih.gov
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.
Where to Start
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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 Gordon syndrome. Click on the link to view a sample search on this topic.
References
- Gordon syndrome. Orphanet. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=376. Accessed 12/11/2018.
- Gordon syndrome. National Organization for Rare Disorders (NORD). Updated 2017; https://rarediseases.org/rare-diseases/gordon-syndrome.
- Alisch F, Weichert A, Kalache K, Paradiso V et al.. Familial Gordon syndrome associated with a PIEZO2 mutation. AM J Med Genet A. 2017; 173(1):254-259. https://www.ncbi.nlm.nih.gov/pubmed/27714920.
- Arthrogryposis, Distal, Type 3; DA3. Online Mendelian Inheritance in Man. Updated 2018; https://www.omim.org/entry/114300.
- McMillin, M et al. Mutations in PIEZO2 Cause Gordon Syndrome, Marden-Walker Syndrome, and Distal Arthrogryposis Type 5. Am J Hum Genet. May 1, 2014; 94(5):734-44. https://www.ncbi.nlm.nih.gov/pubmed/24726473.
Rare Rheumatology News