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)|
|Aplasia/Hypoplasia involving the nose||90%|
|Depressed nasal bridge||90%|
|Hypoplasia of the zygomatic bone||90%|
|Sensorineural hearing impairment||90%|
|Thick lower lip vermilion||90%|
|Abnormal hair quantity||50%|
|Abnormality of the vitreous humor||50%|
|Aplasia/Hypoplasia of the eyebrow||7.5%|
|Absent frontal sinuses||-|
|Autosomal dominant inheritance||-|
|Calcification of falx cerebri||-|
|Irregular distal femoral epiphysis||-|
|Irregular proximal tibial epiphyses||-|
|Macrodontia of permanent maxillary central incisor||-|
|obsolete Flat midface||-|
|Small distal femoral epiphysis||-|
|Small proximal tibial epiphyses||-|
|Thick upper lip vermilion||-|
|Wide tufts of distal phalanges||-|
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.
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 son has Marshall syndrome. Years ago, they stated that life expectency was late teens to early twenties, but now I can't seem to find any such information. Could you possibly clarify this? See answer