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)|
|Decreased body weight||90%|
|Intrauterine growth retardation||90%|
|Wide nasal bridge||50%|
|Absent frontal sinuses||-|
|Autosomal recessive inheritance||-|
|Congestive heart failure||-|
|Depressed nasal bridge||-|
|High pitched voice||-|
|Hypoplastic frontal sinuses||-|
|J-shaped sella turcica||-|
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 boyfriend has mulibrey nanism. I've tried to find some information about the disease, but it is hard to come by. What complications may occur in the future? Do people with this condition have a shortened life expectancy? Is it true that individuals with this condition are infertile? Is there any test I can do to see if I am a carrier of the gene for the condition? See answer