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 the
|Birth length less than 3rd percentile||-|
|Deeply set eye||-|
|Delayed eruption of teeth||-|
|Delayed skeletal maturation||-|
|Delayed speech and language development||-|
|Intrauterine growth retardation||-|
|Radial deviation of finger||-|
|Sensorineural hearing impairment||-|
|Small for gestational age||-|
|Underdeveloped nasal alae||-|
|Wide nasal bridge||-|
In general, the facial features allow to make a suspicion of the diagnosis. Diagnosis is confirmed with the
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.
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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Please send us literature regarding SHORT syndrome. I am writing on behalf of a neighbor whose three children might have the syndrome. They are undergoing tests right now. She is at a loss and having a hard time coping. See answer