Rare Endocrinology News
Disease Profile
McDonough 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
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
Categories
Congenital and Genetic Diseases; Nervous System Diseases
Summary
Orpha Number: 2471
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 cardiovascular system morphology | 0030680 | |
Aplasia/Hypoplasia of the abdominal wall musculature |
Absent/small abdominal wall muscles
Absent/underdeveloped abdominal wall muscles
[ more ] |
0010318 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
Macrotia |
Large ears
|
0000400 |
Open bite |
Absence of overlap of upper and lower teeth
Open bite between upper and lower teeth
[ more ] |
0010807 |
Prominent nose |
Big nose
Disproportionately large nose
Increased nasal size
Increased size of nose
Large nose
Pronounced nose
[ more ] |
0000448 |
Prominent supraorbital ridges |
Prominent brow
|
0000336 |
Protruding ear |
Prominent ear
Prominent ears
[ more ] |
0000411 |
0002650 | ||
Decreased body height
Small stature
[ more ] |
0004322 | |
Cross-eyed
Squint
Squint eyes
[ more ] |
0000486 | |
Synophrys |
Monobrow
Unibrow
[ more ] |
0000664 |
30%-79% of people have these symptoms | ||
Abnormal palate morphology |
Abnormality of the palate
Abnormality of the roof of the mouth
[ more ] |
0000174 |
Bilateral single transverse palmar creases | 0007598 | |
Cachexia |
Wasting syndrome
|
0004326 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Dental malocclusion |
Bad bite
Malalignment of upper and lower dental arches
Misalignment of upper and lower dental arches
[ more ] |
0000689 |
Hypertelorism |
Wide-set eyes
Widely spaced eyes
[ more ] |
0000316 |
Low-set, posteriorly rotated ears | 0000368 | |
Mandibular prognathia |
Big lower jaw
Increased projection of lower jaw
Increased size of lower jaw
Large lower jaw
Prominent chin
Prominent lower jaw
[ more ] |
0000303 |
Little lower jaw
Small jaw
Small lower jaw
[ more ] |
0000347 | |
Pectus excavatum |
Funnel chest
|
0000767 |
Drooping upper eyelid
|
0000508 | |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Short philtrum | 0000322 | |
Underdeveloped nasal alae |
Underdeveloped tissue around nostril
|
0000430 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal facial shape |
Unusual facial appearance
|
0001999 |
Aortic valve stenosis |
Narrowing of aortic valve
|
0001650 |
Atrial septal defect |
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] |
0001631 |
0000007 | ||
Clinodactyly |
Permanent curving of the finger
|
0030084 |
Diastasis recti |
Gap between large left and right abdominal muscles
|
0001540 |
Furrowed tongue |
Grooved tongue
|
0000221 |
Hypoplastic toenails |
Underdeveloped toenails
|
0001800 |
Kyphoscoliosis | 0002751 | |
Pectus carinatum |
Pigeon chest
|
0000768 |
Pulmonic stenosis |
Narrowing of pulmonic valve
|
0001642 |
Radial deviation of finger | 0009466 | |
Single transverse palmar crease | 0000954 | |
Sparse hair | 0008070 | |
Upslanted palpebral fissure |
Upward slanting of the opening between the eyelids
|
0000582 |
Ventricular septal defect |
Hole in heart wall separating two lower heart chambers
|
0001629 |
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
-
Scoliosis Research Society (SRS)
555 East Wells Street, Suite 1100
Milwaukee, WI 53202-3823
Telephone: +1-414-289-9107
Fax: +1-414-276-3349
E-mail: [email protected]
Website: https://www.srs.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 McDonough syndrome. Click on the link to view a sample search on this topic.