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

File:Sutures - from top.svg

Sutures of the skull

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

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

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

Diagnosis of Baller-Gerold Syndrome is based on the presence of the characteristic symptoms. Genetic testing can confirm the diagnosis.

Treatment

Treatment of Baller-Gerold Syndrome is symptomatic and supportive. It may include surgery to correct craniosynostosis and physical therapy for radial aplasia.

Prognosis

The prognosis for individuals with Baller-Gerold Syndrome varies. Some individuals have a normal lifespan, while others may have life-threatening complications.

See also

• Craniosynostosis
• Radial aplasia
• RECQL4