Baller–Gerold syndrome

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Baller–Gerold syndrome
Other namesCraniosynostosis-radial aplasia syndrome, Craniosynostosis with radial defects
The inheritance pattern of Baller-Gerold Syndrome
Frequencyfewer than 1 per million people[1]

Baller–Gerold syndrome (BGS) is a rare genetic syndrome that involves premature fusion of the skull bones and malformations of facial, forearm and hand bones.

RAPADILINO syndrome.[1] The prevalence of BGS is unknown, as there have only been a few reported cases, but it is estimated to be less than 1 in a million.[1] The name of the syndrome comes from the researchers Baller and Gerold who discovered the first three cases.[2]

Signs and symptoms

The Coronal suture

The most common and defining features of BGS are

bulging eyes, shallow eye pockets, and a prominent forehead.[5] Radial ray deficiency is another clinical characteristic of those with BGS, and results in the under-development (hypoplasia) or the absence (aplasia) of the bones in the arms and the hands. These bones include the radius, the carpal bones associated with the radius and the thumb.[1][6] Oligodactyly can also result from radial ray deficiency, meaning that someone with BGS may have fewer than five fingers.[5] Radial ray deficiency that is associated with syndromes (such as BGS) occurs bi-laterally, affecting both arms.[6]

Some of the other clinical characteristics sometimes associated with this disorder are growth retardation and poikiloderma.[5] Although the presentation of BGS may differ between individuals, these characteristics are often observed. People with BGS may have stunted growth, short stature and misshapen kneecaps.[1] Poikiloderma may also be present in people with this syndrome, meaning that their skin may have regions of hyperpigmentation and hypopigmentation, or regions where the skin is missing (atrophy).[7]

Genetics

Baller–Gerold syndrome is caused by a mutation in the

Helicases are involved with unwinding DNA in preparation for DNA replication and repair.[citation needed
]

Baller–Gerold syndrome is inherited in an autosomal recessive pattern of inheritance, meaning that an affected child gets one mutant allele from each parent to produce the syndrome.[2] A carrier is someone who has one mutant allele but does not does have any symptoms. If both parents are carriers, there is a 25% chance the child will have BGS. There is also a 50% chance the child will have one mutant copy (be a carrier) and be asymptomatic and a 25% chance the child will be asymptomatic and not a carrier. In order for someone to have BGS, they need to have two mutant copies of the gene. Adults may pursue genetic counselling to understand the syndrome, as well as the risks and choices regarding family planning.[citation needed]

Diagnosis

Treatment

While there is no cure for BGS, symptoms can be treated as they arise. Surgery shortly after birth can repair craniosynostosis, as well as defects in the hand to create a functional grasp.[1] There are risks associated with untreated craniosynostosis, therefore surgery is often needed to separate and reshape the bones.[9] Since patients with a RECQL4 mutation may be at an increased risk of developing cancer, surveillance is recommended.[1][10]

References

  1. ^ a b c d e f g h i j k "Baller-Gerold syndrome". Genetics Home Reference. 2015-11-02. Retrieved 2015-11-09.
  2. ^ a b c "OMIM Entry - # 218600 - BALLER-GEROLD SYNDROME; BGS". www.omim.org. Retrieved 2015-11-09.
  3. ISBN 978-3-540-95927-4
    .
  4. ^ a b "Baller-Gerold syndrome - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2015-11-09.
  5. ^
    PMID 20301383
    .
  6. ^
    ISBN 9783540303619
    .
  7. ISBN 9781461237907
    .
  8. ^ "RECQL4 RecQ helicase-like 4 - Gene - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2015-11-09.
  9. PMID 26371995
    .
  10. S2CID 42682573
    .

External links

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