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 eyelashes||90%|
|Abnormality of the fontanelles or cranial sutures||90%|
|Camptodactyly of finger||90%|
|Rocker bottom foot||90%|
|Sensorineural hearing impairment||90%|
|Abnormality of the fingernails||50%|
|Aplasia/Hypoplasia of the corpus callosum||50%|
|Asymmetry of the thorax||50%|
|Atresia of the external auditory canal||50%|
|Cerebral cortical atrophy||50%|
|Clinodactyly of the 5th finger||50%|
|Depressed nasal bridge||50%|
|Intrauterine growth retardation||50%|
|Low-set, posteriorly rotated ears||50%|
|Thin vermilion border||50%|
|Hypoplasia of the corpus callosum||5%|
|Absent axillary hair||-|
|Pectus excavatum of inferior sternum||-|
|Posteriorly rotated ears||-|
|Superior pectus carinatum||-|
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.
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 6 year old daughter was recently diagnosed with Fine-Lubinsky syndrome. I've been told that there are just a few others with this syndrome. Is there a way I can find out how the others with this syndrome are developing today? With my daughter only being 6 years old, I wonder what is in her future. See answer
Do you have information about Fine-Lubinsky syndrome? My son's doctor suggested that this may be the cause of his poor vision and hearing. See answer