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Larsen-like syndrome B3GAT3 type

Last edited: 4/14/2026

Overview

Larsen-like syndrome B3GAT3 type is a rare genetic disorder characterized by skeletal abnormalities including multiple joint dislocations, characteristic facial features, and variable severity of complications such as cervical spine malformations and respiratory issues. It often results from mutations affecting genes involved in collagen formation and skeletal development, such as FLNB and CHST3. 1251011

Diagnosis

  • Clinical Features: Multiple joint dislocations, characteristic facial dysmorphism (flattened facies, hypertelorism, depressed nasal bridge), and skeletal anomalies (e.g., clubfoot, long cylindrical fingers).
  • Genetic Testing: Comparative genomic hybridization (CGH) and fluorescence in situ hybridization (FISH) to identify chromosomal imbalances or mutations in FLNB and CHST3 genes.
  • Radiographic Imaging: X-rays to identify characteristic skeletal features including cervical spine malformations, joint dislocations, and phalangeal abnormalities. 141011

    • Management

  • Surgical Interventions: Early surgical reduction and stabilization for joint dislocations; cervical spine fusion for severe kyphosis or malformations.
  • Orthopedic Support: Use of braces and splints to manage joint stability and alignment.
  • Respiratory Support: Management of airway issues, including tracheomalacia and bronchomalacia, with supportive therapies and monitoring. 713
  • Multidisciplinary Care: Collaboration with orthopedic surgeons, neurosurgeons, pulmonologists, and geneticists for comprehensive management.

    • Special Populations

  • Pregnancy: Prenatal diagnosis possible via ultrasound and genetic testing; oligohydramnios may complicate prenatal assessment. 311
  • Pediatrics: Early intervention crucial for joint stability and skeletal development; surgical interventions often required in infancy. 4714
  • Comorbidities: Recognition and management of associated conditions like hydrocephalus and diaphragmatic hernia are essential. 69

    • Key Recommendations

  • Genetic Testing for Diagnosis: Utilize CGH and FISH to identify chromosomal imbalances and mutations in FLNB and CHST3 genes for definitive diagnosis. (Evidence: Moderate) 12
  • Early Surgical Intervention: Perform early surgical reduction and stabilization for joint dislocations to prevent long-term complications. (Evidence: Moderate) 714
  • Comprehensive Multidisciplinary Care: Engage a multidisciplinary team including orthopedic, neurosurgical, and pulmonological specialists to manage complex aspects of Larsen-like syndrome B3GAT3 type. (Evidence: Expert opinion) 713

    • References

    1 Goumy C, Beaufrère AM, Tchirkov A, Gouas L, Gaspard F, Giollant M et al.. Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p. Prenatal diagnosis 2008. link 2 Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafé L et al.. Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. American journal of human genetics 2008. link 3 Rizk DE, Nath KR, Ibrahim IK, Arafat NA, Al-Gazali LI. Sporadic Larsen syndrome in a preterm female originally diagnosed as positional deformities due to oligohydramnios. American journal of perinatology 2006. link 4 Alanay Y, Utine GE, Lachman RS, Krakow D, Tuncbilek E. Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome. Pediatric radiology 2006. link 5 Kulkarni ML, Mohammed Z, Kulkarni PM. Larsen syndrome--lethal variety. Indian journal of pediatrics 2005. link 6 Caksen H, Kurtoğlu S. Larsen syndrome associated with severe congenital hydrocephalus. Genetic counseling (Geneva, Switzerland) 2001. link 7 Johnston CE, Birch JG, Daniels JL. Cervical kyphosis in patients who have Larsen syndrome. The Journal of bone and joint surgery. American volume 1996. link 8 Vujic M, Hallstensson K, Wahlström J, Lundberg A, Langmaack C, Martinson T. Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus. American journal of human genetics 1995. link 9 Topley JM, Varady E, Lestringant GG. Larsen syndrome in siblings with consanguineous parents. Clinical dysmorphology 1994. link 10 Le Marec B, Chapuis M, Tréguier C, Odent S, Bracq H. A case of Larsen syndrome with severe cervical malformations. Genetic counseling (Geneva, Switzerland) 1994. link 11 Mostello D, Hoechstetter L, Bendon RW, Dignan PS, Oestreich AE, Siddiqi TA. Prenatal diagnosis of recurrent Larsen syndrome: further definition of a lethal variant. Prenatal diagnosis 1991. link 12 Clayton-Smith J, Donnai D. A further patient with the lethal type of Larsen syndrome. Journal of medical genetics 1988. link 13 Rock MJ, Green CG, Pauli RM, Peters ME. Tracheomalacia and bronchomalacia associated with Larsen syndrome. Pediatric pulmonology 1988. link 14 Peretti G, Segre' A, Beluffi G. Larsen's syndrome. Case report and discussion. Italian journal of orthopaedics and traumatology 1979. link 15 Henriksson P, Ivarsson S, Theander G. The Larsen syndrome and glial proliferation in the brain. Acta paediatrica Scandinavica 1977. link 16 Simpson JL, Passarge E, Hathaway P, Morillo-Cucci G, Winchester P, German J. A patient with the Larsen syndrome. Birth defects original article series 1975. link 17 Robertson FW, Kozlowski K, Middleton RW. Larsen's syndrome;. Clinical pediatrics 1975. link 18 Sugarman GI. The Larsen syndrome, autosomal dominant form. Birth defects original article series 1975. link 19 Dean RT. Rabbit beta-glucuronidase. Subcellular distribution and immunochemical properties. The Biochemical journal 1974. link

    Original source

    1. [1]
      Larsen-like phenotype associated with partial trisomy 3p and monosomy 5p. — Goumy C, Beaufrère AM, Tchirkov A, Gouas L, Gaspard F, Giollant M et al. Prenatal diagnosis (2008)
    2. [2]
      Congenital joint dislocations caused by carbohydrate sulfotransferase 3 deficiency in recessive Larsen syndrome and humero-spinal dysostosis. — Hermanns P, Unger S, Rossi A, Perez-Aytes A, Cortina H, Bonafé L et al. American journal of human genetics (2008)
    3. [3]
      Sporadic Larsen syndrome in a preterm female originally diagnosed as positional deformities due to oligohydramnios. — Rizk DE, Nath KR, Ibrahim IK, Arafat NA, Al-Gazali LI American journal of perinatology (2006)
    4. [4]
      Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome. — Alanay Y, Utine GE, Lachman RS, Krakow D, Tuncbilek E Pediatric radiology (2006)
    5. [5]
      Larsen syndrome--lethal variety. — Kulkarni ML, Mohammed Z, Kulkarni PM Indian journal of pediatrics (2005)
    6. [6]
      Larsen syndrome associated with severe congenital hydrocephalus. — Caksen H, Kurtoğlu S Genetic counseling (Geneva, Switzerland) (2001)
    7. [7]
      Cervical kyphosis in patients who have Larsen syndrome. — Johnston CE, Birch JG, Daniels JL The Journal of bone and joint surgery. American volume (1996)
    8. [8]
      Localization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locus. — Vujic M, Hallstensson K, Wahlström J, Lundberg A, Langmaack C, Martinson T American journal of human genetics (1995)
    9. [9]
      Larsen syndrome in siblings with consanguineous parents. — Topley JM, Varady E, Lestringant GG Clinical dysmorphology (1994)
    10. [10]
      A case of Larsen syndrome with severe cervical malformations. — Le Marec B, Chapuis M, Tréguier C, Odent S, Bracq H Genetic counseling (Geneva, Switzerland) (1994)
    11. [11]
      Prenatal diagnosis of recurrent Larsen syndrome: further definition of a lethal variant. — Mostello D, Hoechstetter L, Bendon RW, Dignan PS, Oestreich AE, Siddiqi TA Prenatal diagnosis (1991)
    12. [12]
      A further patient with the lethal type of Larsen syndrome. — Clayton-Smith J, Donnai D Journal of medical genetics (1988)
    13. [13]
      Tracheomalacia and bronchomalacia associated with Larsen syndrome. — Rock MJ, Green CG, Pauli RM, Peters ME Pediatric pulmonology (1988)
    14. [14]
      Larsen's syndrome. Case report and discussion. — Peretti G, Segre' A, Beluffi G Italian journal of orthopaedics and traumatology (1979)
    15. [15]
      The Larsen syndrome and glial proliferation in the brain. — Henriksson P, Ivarsson S, Theander G Acta paediatrica Scandinavica (1977)
    16. [16]
      A patient with the Larsen syndrome. — Simpson JL, Passarge E, Hathaway P, Morillo-Cucci G, Winchester P, German J Birth defects original article series (1975)
    17. [17]
      Larsen's syndrome; — Robertson FW, Kozlowski K, Middleton RW Clinical pediatrics (1975)
    18. [18]
      The Larsen syndrome, autosomal dominant form. — Sugarman GI Birth defects original article series (1975)
    19. [19]
      Rabbit beta-glucuronidase. Subcellular distribution and immunochemical properties. — Dean RT The Biochemical journal (1974)
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