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.
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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