Baller–Gerold syndrome
(Redirected from Baller-Gerold syndrome)
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Baller–Gerold syndrome | |
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Synonyms | Craniosynostosis-radial aplasia syndrome |
Pronounce | N/A |
Specialty | N/A |
Symptoms | Craniosynostosis, radial aplasia, short stature, facial dysmorphism |
Complications | Developmental delay, intellectual disability |
Onset | Congenital |
Duration | Lifelong |
Types | N/A |
Causes | Mutations in the RECQL4 gene |
Risks | Family history of the condition |
Diagnosis | Genetic testing, clinical evaluation |
Differential diagnosis | Rothmund–Thomson syndrome, Rapadilino syndrome |
Prevention | N/A |
Treatment | Surgical intervention, supportive care |
Medication | N/A |
Prognosis | Variable, depending on severity |
Frequency | Rare |
Deaths | N/A |
Baller-Gerold Syndrome is a rare genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis) and abnormalities of the bones in the arms and hands (radial aplasia).
Symptoms[edit | edit source]
The most common symptoms of Baller-Gerold Syndrome include:
- Craniosynostosis: Premature fusion of the skull bones, which affects the shape of the head and face.
- Radial aplasia: Absence of the radius, one of the long bones of the forearm.
- Growth retardation: Affected individuals often have slow growth and short stature.
- Facial abnormalities: These can include a prominent forehead, widely spaced eyes, downslanting eye slits, and a small jaw.
- Skin abnormalities: Some people with Baller-Gerold Syndrome have areas of skin with abnormal pigmentation or missing skin.
Causes[edit | edit source]
Baller-Gerold Syndrome is caused by mutations in the RECQL4 gene. This gene provides instructions for making a protein that is involved in maintaining the stability of the DNA molecule.
Diagnosis[edit | edit source]
Diagnosis of Baller-Gerold Syndrome is based on the presence of the characteristic symptoms. Genetic testing can confirm the diagnosis.
Treatment[edit | edit source]
Treatment of Baller-Gerold Syndrome is symptomatic and supportive. It may include surgery to correct craniosynostosis and physical therapy for radial aplasia.
Prognosis[edit | edit source]
The prognosis for individuals with Baller-Gerold Syndrome varies. Some individuals have a normal lifespan, while others may have life-threatening complications.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD