The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of pelvic girdle bone morphology||90%|
|Abnormality of the ribs||90%|
|Intrauterine growth retardation||90%|
|Limitation of joint mobility||90%|
|Skeletal muscle hypertrophy||90%|
|Thin vermilion border||90%|
|Abnormality of the cardiac septa||50%|
|Abnormality of the metaphyses||50%|
|Displacement of the external urethral meatus||7.5%|
|Hernia of the abdominal wall||7.5%|
|Non-midline cleft lip||7.5%|
|2-3 toe syndactyly||-|
|Abnormality of the voice||-|
|Aortic valve stenosis||-|
|Autosomal dominant inheritance||-|
|Coarctation of aorta||-|
|Deeply set eye||-|
|Enlarged vertebral pedicles||-|
|Generalized muscle hypertrophy||-|
|Hypoplasia of the maxilla||-|
|Hypoplastic iliac wing||-|
|Patent ductus arteriosus||-|
|Prominent nasal bridge||-|
|Radial deviation of finger||-|
|Short long bone||-|
Some researchers believe that the SMAD4 gene mutations that cause Myhre syndrome impair the ability of the SMAD4 protein to attach (bind) properly with the other proteins involved in the signaling pathway. Other studies have suggested that these mutations result in an abnormally stable SMAD4 protein that remains active in the cell longer. Changes in SMAD4 binding or availability may result in abnormal signaling in many cell types, which affects development of several body systems and leads to the signs and symptoms of Myhre syndrome.
Making 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.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
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.
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My 2 1/2 year old daughter has just been diagnosed with Mhyre syndrome. Could you provide me with information about this condition? Is there anything we should be aware of for later in life? See answer