Baller–Gerold syndrome
Rare genetic syndrome with skull and limb malformations.
Last updated
Baller–Gerold syndrome (BGS) is a rare genetic syndrome characterized by premature fusion of the skull bones and malformations of facial, forearm, and hand bones. The syndrome was first identified by researchers Baller and Gerold, who documented the initial three cases. Its prevalence is estimated to be less than 1 in a million, with only a few reported cases.
Quick Facts
- Frequency
- fewer than 1 per million people
Facts from the source article.
Background
Additional features sometimes observed include growth retardation, short stature, misshapen kneecaps, and poikiloderma—skin with areas of hyperpigmentation, hypopigmentation, or atrophy. The syndrome is caused by mutations in the RECQL4 gene, which encodes a DNA helicase involved in DNA replication and repair. Inheritance is autosomal recessive, requiring two mutant alleles for the condition to manifest.
Did You Know?
- Radial ray deficiency in BGS occurs bilaterally, affecting both arms.
- If both parents are carriers, there is a 25% chance their child will have BGS.
More in Diseases named after discoverers
Sources
Compiled from Wikipedia and the sources listed below. Text from Wikipedia is available under CC BY-SA 4.0; this entry is adapted from it.
- Wikipedia: Baller–Gerold syndrome (CC BY-SA 4.0).
- Word definitions: the , each quoted from its Wikipedia article.
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