Baller-Gerold syndrome Q82.85

Last updated on: 11.12.2022

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History
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Baller F, 1950

Definition
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Baller-Gerold syndrome (BGS) is a very rare disorder characterized by premature fusion of certain skull bones (craniosynostosis) and abnormalities of the arm and hand bones. People with Baller-Gerold syndrome have prematurely fused skull bones. These changes result in an abnormally shaped head, a protruding forehead, and bulging eyes with shallow sockets (ocular proptosis). Other characteristic facial features include hypertelorism, microstomia, and a saddle-shaped dysplastic nose. Furthermore, oligodactyly and malformed or absent thumbs.

People with Baller-Gerold syndrome may have a number of other signs and symptoms, including slow growth from infancy, short stature, and malformed or missing kneecaps (patellae). A few months after birth, signs of poikiloderma may appear, initially on the arms and legs, and later on other parts of the body (Van Maldergem L et al. 2022). In this respect, as in Rothmund-Thomson syndrome, increased epithelial neoplasms (spinocellular carcinomas, basal cell carcinomas) are to be expected.

Etiopathogenesis
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The syndrome is caused by a mutation in the RECQL4 gene.

Literature
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  1. Baller F (1950) Radius aplasia and inbreeding. Z. Menschl. Vererb. Konstitutionsl 29: 782-790.
  2. Cohen MM et al (1996) Is there a Baller-Gerold syndrome? (Editorial) Am. J Med Genet. 61: 63-64.
  3. Gerold M (1959) Fracture healing in a rare case of congenital anomaly of the upper limbs. (Healing of a fracture in an unusual case of congenital anomaly of the upper extremities). Zbl. Chir. 84: 831-834.
  4. Kääriäinen H et al. (1989) RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations. In: American journal of medical genetics 33: 346-351.
  5. Lu H et al (2011) Human RecQ helicases in DNA double-strand break repair. Front Cell Dev Biol9:640755.
  6. Megarbane A et al (2000) Overlap between Baller-Gerold and Rothmund-Thomson syndrome. Clin. Dysmorph. 9: 303-305.
  7. Siitonen HA et al. (2003) Molecular defect of RAPADILINO syndrome expands the phenotype spectrum of RECQL diseases. In: Human Molecular Genetics 21: 2837-2844.
  8. Van Maldergem L et al. (2006) Revisiting the craniosynostosis-radial ray hypoplasia association: Baller-Gerold syndrome caused by mutations in the RECQL4 gene. J Med Genet 43: 148-152.
  9. Van Maldergem L et al. (2022) In: Adam MP et al. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022.

Outgoing links (1)

Poikiloderma (overview);

Disclaimer

Please ask your physician for a reliable diagnosis. This website is only meant as a reference.

Last updated on: 11.12.2022