Baller–Gerold syndrome
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| Baller–Gerold syndrome | |
|---|---|
| File:Autosomal recessive - en.svg | |
| 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]
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]
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]
Diagnosis of Baller-Gerold Syndrome is based on the presence of the characteristic symptoms. Genetic testing can confirm the diagnosis.
Treatment[edit]
Treatment of Baller-Gerold Syndrome is symptomatic and supportive. It may include surgery to correct craniosynostosis and physical therapy for radial aplasia.
Prognosis[edit]
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]
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