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 epiphysis morphology||90%|
|Atresia of the external auditory canal||90%|
|Delayed skeletal maturation||90%|
|Intrauterine growth retardation||90%|
|Slender long bone||90%|
|Abnormality of the clavicle||50%|
|Abnormality of the ribs||50%|
|Camptodactyly of finger||50%|
|Clinodactyly of the 5th finger||50%|
|Low-set, posteriorly rotated ears||50%|
|Displacement of the external urethral meatus||7.5%|
|Hypoplasia of penis||7.5%|
|Thick lower lip vermilion||7.5%|
|Abnormality of pelvic girdle bone morphology||-|
|Absent glenoid fossa||-|
|Absent sternal ossification||-|
|Aplasia/Hypoplasia of the patella||-|
|Autosomal recessive inheritance||-|
|Birth length less than 3rd percentile||-|
|Cutaneous finger syndactyly||-|
|Failure to thrive||-|
|Feeding difficulties in infancy||-|
|Flat glenoid fossa||-|
|Hypoplasia of the maxilla||-|
|Hypoplastic labia majora||-|
|Hypoplastic labia minora||-|
|Incomplete partition of the cochlea type II||-|
|Joint contracture of the hand||-|
|Lateral clavicle hook||-|
|Short palpebral fissure||-|
|Small anterior fontanelle||-|
|Small for gestational age||-|
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.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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 daughter has just been diagnosed with Meier-Gorlin syndrome. I would like to learn more about it and what to expect in terms of weight and height gain, specific medical problems, and average life expectancy. See answer