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Congenital constriction band syndrome with limb defects
Eeva Koskimies1, Johanna Syvänen, Yrjänä Nietosvaara
1*Department of Paediatric Surgery †Section of Orthopaedic Surgery, Turku University Central Hospital, Turku ‡Section of Paediatric Surgery, Hospital for Children and Adolescents, Helsinki University Central Hospital §Children's Hospital, Helsinki University Central Hospital and University of Helsinki ∥Folkhälsan Institute of Genetics, Biomedicum Helsinki, Helsinki, Finland.
Insights
Congenital constriction band syndrome (CBS) is a rare condition affecting limbs. Associated anomalies increase mortality and indicate potential genetic causes.
Area of Science:
- Medical Genetics
- Pediatric Orthopedics
- Birth Defects Research
Background:
- Congenital constriction band syndrome (CBS) is a rare condition affecting limb development.
- Understanding its spectrum, associated anomalies, and mortality is crucial for diagnosis and management.
Purpose of the Study:
- To clarify the spectrum of congenital constriction band syndrome (CBS) in Finland.
- To identify associated anomalies and assess mortality rates in affected infants.
Main Methods:
- A population-based register study analyzed data from 1993 to 2005 in Finland.
- Inclusion criteria involved children with congenital constriction bands in upper and lower extremities.
Main Results:
- The birth prevalence of CBS was 0.9 per 10,000 births, with 71 cases identified.
- Infant and perinatal mortality rates were 4.6% and 12.7%, respectively.
- Associated anomalies (e.g., pes equinovarus, cleft palate, congenital heart defects) were present in 30% of cases, correlating with higher mortality and adverse outcomes.
Conclusions:
- CBS is a rare limb defect, accounting for approximately 12-14% of congenital limb anomalies.
- The frequent occurrence of other skeletal and nonskeletal anomalies suggests a potential genetic etiology.
- Further research into associated anomalies is needed to elucidate the pathogenetic mechanisms of CBS.
Background:
The purpose of this study was to clarify the spectrum of congenital constriction band syndrome (CBS) and associated anomalies and mortality in Finland.
Methods:
Register-based data were analyzed for children with congenital constriction bands in upper and lower extremities as a part of an ongoing study on 419 upper limb defects and 171 lower limb defects occurring among 753,342 births in Finland during 1993 to 2005.
Results:
A total of 71 cases with limb CBS were identified during the 13-year study period. The birth prevalence was 0.9 per 10 000 births (1:10 600). Infant mortality was 4.6% (3/65) and perinatal mortality 12.7% (9/71). In 35 cases (49%) only upper limbs were affected and in 13 cases (18%) there were constriction defects only in lower limbs. In 23 cases (32%) both upper and lower limbs were involved. None of the cases associated with a known syndrome. However, in 21 cases (30%) the child had other anomalies associated with constriction rings: pes equinovarus in 8/21, cleft palate in 5/21, congenital heart defect in 6/21, and other anomalies in 14/21. Eighteen (25%) had low birth weight, 22 (31%) were born preterm, and 8 children (11%) were small for gestational age. Children with associated anomalies showed higher mortality, shorter duration of gestation, and lower birth weight.
Conclusions:
CBS is rare and comprises approximately 12% of all congenital upper limb defects and 14% of lower limb defects. Other skeletal and nonskeletal anomalies are present in 30% of the affected children, suggesting a possible genetic etiology. More detailed characterization of the children with associated anomalies may shed light to the pathogenetic mechanisms of this syndrome.
Level Of Evidence:
Population-based register study/II.
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