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Disease Profile
Myhre 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.
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Age of onset
Childhood
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)
Facial dysmorphism intellectual deficit short stature hearing loss; Laryngotracheal stenosis, arthropathy, prognathism, and short stature; LAPS syndrome;
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases; Nervous System Diseases
Summary
Myhre
Symptoms
- Fibrosis (thickening and scarring of connective
tissue ) that occurs on its own or after trauma or surgery; may affect the heart, lungs, digestive system and skin - Mild to moderate
intellectual disability - Delayed language and motor development
Congenital heart defects or developing heart problems such as obstruction of arteries, pericardial effusion, constrictive pericarditis,cardiomyopathy , orhypertension - Respiratory defects, obstructive airway disease, or restrictive pulmonary disease
- Gastrointestinal (digestive) abnormalities
- Thickening of the skin
- Autistic-like behaviors
Hearing loss - Skeletal abnormalities including
short stature , limited range of joint motion, thickening of the skull bones, vertebral (spine) abnormalities, broad ribs, underdeveloped hip bones, and short fingers and toes (brachydactyly ) - Distinctive facial features including narrow openings of the eyelids, deep-set eyes, narrow mouth, thin upper lip, and protruding jaw
- Cleft lip and/or cleft palate
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 the pubic bone |
Abnormality of the pubic bones
Abnormality of the pubis
[ more ] |
0003172 |
Abnormality of the ribs |
Rib abnormalities
|
0000772 |
Brachydactyly |
Short fingers or toes
|
0001156 |
Craniofacial hyperostosis |
Excessive bone growth of the skull and face
|
0004493 |
Global |
0001263 | |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Hypoplasia of the maxilla |
Decreased size of maxilla
Decreased size of upper jaw
Maxillary deficiency
Maxillary retrusion
Small maxilla
Small upper jaw
Small upper jaw bones
Upper jaw deficiency
Upper jaw retrusion
[ more ] |
0000327 |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Intrauterine growth retardation |
Prenatal growth deficiency
Prenatal growth retardation
[ more ] |
0001511 |
Joint stiffness |
Stiff joints
Stiff joint
[ more ] |
0001387 |
Large iliac wings | 0008818 | |
Mandibular prognathia |
Prominent lower jaw
Prominent chin
Large lower jaw
Increased size of lower jaw
Increased projection of lower jaw
Big lower jaw
[ more ] |
0000303 |
Midface retrusion |
Decreased size of midface
Underdevelopment of midface
Midface deficiency
[ more ] |
0011800 |
Narrow mouth |
Small mouth
|
0000160 |
Platyspondyly |
Flattened vertebrae
|
0000926 |
Severe short stature |
Dwarfism
Proportionate dwarfism
Short stature, severe
[ more ] |
0003510 |
Short palm | 0004279 | |
Skeletal muscle hypertrophy |
Increased skeletal muscle cells
|
0003712 |
Specific learning disability | 0001328 | |
Thin vermilion border |
Decreased volume of lip
Thin lips
[ more ] |
0000233 |
30%-79% of people have these symptoms | ||
Abnormal cardiac septum morphology | 0001671 | |
Abnormality of epiphysis morphology |
Abnormal shape of end part of bone
|
0005930 |
Abnormality of the metaphysis |
Abnormality of the wide portion of a long bone
|
0000944 |
Blepharophimosis |
Narrow opening between the eyelids
|
0000581 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
EMG abnormality | 0003457 | |
High hypermetropia |
Severe farsightedness
Severe long-sightedness
[ more ] |
0008499 |
Hypertension | 0000822 | |
Drooping upper eyelid
|
0000508 | |
Short palpebral fissure |
Short opening between the eyelids
|
0012745 |
Thickened skin |
Thick skin
|
0001072 |
5%-29% of people have these symptoms | ||
0001251 | ||
Behavioral abnormality |
Behavioral changes
Behavioral disorders
Behavioral disturbances
Behavioral problems
Behavioral/psychiatric abnormalities
Behavioural/Psychiatric abnormality
Psychiatric disorders
Psychiatric disturbances
[ more ] |
0000708 |
Bifid uvula | 0000193 | |
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Epispadias | 0000039 | |
External genital hypoplasia |
Underdevelopment of external reproductive organs
|
0003241 |
Femoral hernia | 0100541 | |
Gingival cleft | 0030690 | |
Decreased activity of gonads
|
0000135 | |
Hypospadias | 0000047 | |
Inguinal hernia | 0000023 | |
Microphthalmia |
Abnormally small eyeball
|
0000568 |
Precocious puberty |
Early onset of puberty
Early puberty
[ more ] |
0000826 |
Respiratory failure | 0002878 | |
Submucous cleft hard palate | 0000176 | |
Unilateral |
One sided cleft upper lip
|
0100333 |
1%-4% of people have these symptoms | ||
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 |
0000717 | ||
Birth length less than 3rd percentile | 0003561 | |
Broad ribs |
Wide ribs
|
0000885 |
Cleft lip | 0410030 | |
Cause Myhre
Mutations in the SMAD4 gene that cause Myhre syndrome have been found to cause a "gain-of-function" of the SMAD4 protein, causing increased stability.[4][1] This disrupts the signaling pathway, and ultimately the ability of signals to properly communicate how other genes should function. This results in abnormal development of the skeleton, cardiac muscle, and DiagnosisMaking a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional. Testing Resources
Treatment Treatment of Myhre
Early intervention is important to ensure that children with Myhre syndrome reach their potential. Special services that may be helpful for children may include special remedial education, special social support, OrganizationsSupport 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
Social Networking Websites
Learn moreThese 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
In-Depth Information
References
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