Format

Send to

Choose Destination
See comment in PubMed Commons below

Baller-Gerold Syndrome.

Source

GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2007 Aug 13 [updated 2011 Jun 7].

Excerpt

CLINICAL CHARACTERISTICS:

Baller-Gerold syndrome (BGS) is characterized by coronal craniosynostosis, manifest as abnormal shape of the skull (brachycephaly) with ocular proptosis and bulging forehead; radial ray defect, manifest as oligodactyly (reduction in number of digits), aplasia or hypoplasia of the thumb, and/or aplasia or hypoplasia of the radius; growth retardation and poikiloderma. Findings in individuals with BGS overlap with those of Rothmund-Thomson syndrome (RTS) and RAPADILINO syndrome, also caused by pathogenic variants in RECQL4. RTS is characterized by poikiloderma; sparse hair, eyelashes, and/or eyebrows/lashes; small stature; skeletal and dental abnormalities; cataracts; and an increased risk for cancer, especially osteosarcoma. RAPADILINO syndrome is an acronym for radial ray defect; patellae hypoplasia or aplasia and cleft or highly arched palate; diarrhea and dislocated joints; little size and limb malformation; nose slender and normal intelligence.

DIAGNOSIS/TESTING:

The diagnosis of BGS is based on clinical findings. RECQL4 is the only gene currently known to be associated with BGS. Sequence analysis of the exons and the short introns of RECQL4 has detected pathogenic variants in 100% of the limited number of persons with BGS tested to date.

MANAGEMENT:

Treatment of manifestations: Surgery before age six months to repair bilateral craniosynostosis; pollicization of the index finger as needed to create a functional grasp. Surveillance: For persons with RECQL4 pathogenic variants that correlate with an increased risk for osteosarcoma, attention to clinical findings such as bone pain, limp, and fracture. Agents/circumstances to avoid: Sun exposure because of risk for skin cancer.

GENETIC COUNSELING:

Baller-Gerold syndrome is inherited in an autosomal recessive manner. The parents of an affected child are obligate heterozygotes and therefore carry one mutated allele. Heterozygotes (carriers) are asymptomatic. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if both pathogenic alleles in the family have been identified.

Copyright © 1993-2017, University of Washington, Seattle. GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.

PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Support Center