Rare Hematology News
Advertisement
Disease Profile
Arthrogryposis multiplex congenita whistling face
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
Neonatal
ICD-10
Q87.8
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)
Illum syndrome; Lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system; Arthrogryposis multiplex congenita-whistling face syndrome
Categories
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases
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 | ||
Abnormal shoulder morphology |
Abnormality of the shoulder
|
0003043 |
Adducted thumb |
Inward turned thumb
|
0001181 |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Full cheeks |
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks
[ more ] |
0000293 |
Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
Low-set, posteriorly rotated ears | 0000368 | |
Muscular |
Low or weak muscle tone
|
0001252 |
Narrow mouth |
Small mouth
|
0000160 |
Polyhydramnios |
High levels of amniotic fluid
|
0001561 |
0001250 | ||
Severe global |
0011344 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
Whistling appearance |
Whistling facial appearance
|
0000346 |
30%-79% of people have these symptoms | ||
0002353 | ||
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Pierre-Robin sequence | 0000201 | |
5%-29% of people have these symptoms | ||
Abnormal fingernail morphology |
Abnormal fingernails
Abnormality of the fingernails
[ more ] |
0001231 |
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 |
Abnormality of the nose |
Nasal abnormality
|
0000366 |
Dimple chin |
Chin butt
Chin dent
Chin dimple
Chin skin dimple
Indentation of chin
[ more ] |
0010751 |
Downturned corners of mouth |
Downturned corners of the mouth
Downturned mouth
[ more ] |
0002714 |
Hearing abnormality |
Abnormal hearing
|
0000364 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the nervous system |
Neurologic abnormalities
Neurological abnormality
[ more ] |
0000707 |
Apnea | 0002104 | |
Arthrogryposis multiplex congenita | 0002804 | |
0000007 | ||
Bradycardia |
Slow heartbeats
|
0001662 |
Calcinosis |
Calcium buildup in soft tissues of body
|
0003761 |
Excessive salivation |
Mouth watering
Oversalivation
Watery mouth
[ more ] |
0003781 |
Temperature instability | 0005968 |
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: [email protected]
Website: https://amcsupport.org
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 Arthrogryposis multiplex congenita whistling face. Click on the link to view a sample search on this topic.