Bone abnormalities in the hands include missing fingers (oligodactyly) and malformed or absent thumbs. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are called radial ray malformations.
People with Baller-Gerold syndrome may have a variety of additional signs and symptoms including slow growth beginning in infancy, small stature, and malformed or missing kneecaps (patellae). A skin rash often appears on the arms and legs a few months after birth. This rash spreads over time, causing patchy changes in skin coloring, areas of skin tissue degeneration, and small clusters of enlarged blood vessels just under the skin. These chronic skin problems are collectively known as poikiloderma.
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 fontanelles or cranial sutures||90%|
|Aplasia/Hypoplasia of the thumb||90%|
|Aplasia/Hypoplasia involving the nose||50%|
|Bowing of the long bones||50%|
|Intrauterine growth retardation||50%|
|Abnormal localization of kidney||7.5%|
|Abnormality of the cardiac septa||7.5%|
|Conductive hearing impairment||7.5%|
|Narrow nasal bridge||7.5%|
|Neoplasm of the skeletal system||7.5%|
|Prominent nasal bridge||7.5%|
|Abnormality of cardiovascular system morphology||-|
|Abnormality of the kidney||-|
|Abnormality of the vertebrae||-|
|Agenesis of corpus callosum||-|
|Anomalous splenoportal venous system||-|
|Anteriorly placed anus||-|
|Aphalangy of the hands||-|
|Aplasia of metacarpal bones||-|
|Autosomal recessive inheritance||-|
|Carpal bone aplasia||-|
|Hypoplasia of the radius||-|
|Hypoplasia of the ulna||-|
|Limited elbow movement||-|
|Limited shoulder movement||-|
|Low-set, posteriorly rotated ears||-|
|Midface capillary hemangioma||-|
|Spina bifida occulta||-|
|Underdeveloped nasal alae||-|
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
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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Can Baller-Gerold syndrome be detected prior to birth? How many cases of this condition have been identified throughout the world? See answer