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Pediatrics29 papers

Fryns syndrome

Last edited: 4/14/2026

Overview

Fryns syndrome is a lethal, autosomal recessive multiple congenital anomaly syndrome characterized by craniofacial dysmorphism, diaphragmatic hernia (though not always present), distal limb hypoplasia, and variable involvement of other organ systems including the cardiovascular, gastrointestinal, genitourinary, and central nervous systems 12316.

Diagnosis

  • Key Diagnostic Criteria: Coarse facies, craniofacial dysmorphism (e.g., cleft lip/palate), distal limb hypoplasia, diaphragmatic hernia (present in >80% but not universal) 12316.
  • Recommended Tests:
    • - Imaging: Prenatal ultrasound and postnatal imaging (CT, MRI) to assess diaphragmatic hernia, lung hypoplasia, and other structural anomalies 915. - Genetic Testing: Karyotyping to rule out chromosomal abnormalities such as trisomy 22 10. - Ophthalmic Evaluation: To identify ocular abnormalities like microphthalmia, anophthalmia, or cloudy cornea 48.
  • Grading: Diagnosis based on clinical features; genetic confirmation can support but is not always necessary 16.

    • Management

  • Neonatal Care: Intensive respiratory support for those with diaphragmatic hernia and lung hypoplasia 15.
  • Surgical Interventions: Surgical repair of diaphragmatic hernia if feasible, though prognosis remains guarded 15.
  • Supportive Care: Multidisciplinary approach including neonatology, genetics, cardiology, and neurology for comprehensive management 1314.
  • No Specific Drug Therapy: No specific pharmacological treatments are documented for Fryns syndrome 12.

    • Special Populations

  • Pregnancy: Prenatal diagnosis possible via ultrasound, identifying features like diaphragmatic hernia, hydrops, and other anomalies 9.
  • Pediatrics: Survivors often exhibit severe developmental delays and require long-term multidisciplinary support 1314.
  • Comorbidities: Presence of additional anomalies (e.g., cardiac defects, renal anomalies) necessitates specialized care 1311.

    • Key Recommendations

  • Prenatal Ultrasound Screening: Utilize prenatal ultrasound for early detection of Fryns syndrome features, including diaphragmatic hernia and other anomalies 9 (Evidence: Moderate).
  • Multidisciplinary Approach: Implement a comprehensive multidisciplinary care plan addressing respiratory, cardiac, and developmental needs in survivors 1314 (Evidence: Moderate).
  • Genetic Counseling: Offer genetic counseling to families, especially in cases of consanguinity, due to autosomal recessive inheritance 316 (Evidence: Expert opinion).

    • References

    1 Pratap A, Agrawal A, Raja S, Khaniya S, Tiwari A, Kumar A. Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins. Singapore medical journal 2007. link 2 Alessandri L, Brayer C, Attali T, Samperiz S, Tiran-Rajaofera I, Ramful D et al.. Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. Genetic counseling (Geneva, Switzerland) 2005. link 3 Vasudevan PC, Stewart H. A case of Fryns syndrome without diaphragmatic hernia and review of the literature. Clinical dysmorphology 2004. link 4 Pierson DM, Taboada E, Butler MG. Eye abnormalities in Fryns syndrome. American journal of medical genetics. Part A 2004. link 5 Arnold SR, Debich-Spicer D D, Opitz JM, Gilbert-Barness E. Documentation of anomalies not previously described in Fryns syndrome. American journal of medical genetics. Part A 2003. link 6 Pierson DM, Subtil A, Taboada E, Butler MG. Newborn with anophthalmia and features of Fryns syndrome. Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2002. link 7 Vargas JE, Cox GF, Korf BR. Discordant phenotype in monozygotic twins with Fryns syndrome. American journal of medical genetics 2000. link94:1<42::aid-ajmg9>3.0.co;2-6) 8 Cursiefen C, Schlötzer-Schrehardt U, Holbach LM, Vieth M, Kuchelmeister K, Stolte M. Ocular findings in Fryns syndrome. Acta ophthalmologica Scandinavica 2000. link 9 Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H. Variability in the phenotypic expression of fryns syndrome: A report of two sibships. American journal of medical genetics 2000. link95:5<415::aid-ajmg2>3.0.co;2-j) 10 Ladonne JM, Gaillard D, Carré-Pigeon F, Gabriel R. Fryns syndrome phenotype and trisomy 22. American journal of medical genetics 1996. link1096-8628(19960102)61:1<68::AID-AJMG13>3.0.CO;2-U) 11 Tsukahara M, Sase M, Tateishi H, Saito T, Kato H, Furukawa S. Skeletal manifestations in Fryns syndrome. American journal of medical genetics 1995. link 12 Bartsch O, Meinecke P, Kamin G. Fryns syndrome: two further cases without lateral diaphragmatic defects. Clinical dysmorphology 1995. link 13 Van Hove JL, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, Iafolla AK, Kahler SG. Fryns syndrome survivors and neurologic outcome. American journal of medical genetics 1995. link 14 Riela AR, Thomas IT, Gonzalez AR, Ifft RD. Fryns syndrome: neurologic findings in a survivor. Journal of child neurology 1995. link 15 Gadow EC, Lippold S, Serafin E, Salgado LJ, Garcia C, Prudent L. Prenatal diagnosis and long survival of Fryns' syndrome. Prenatal diagnosis 1994. link 16 Pinar H, Carpenter MW, Abuelo D, Singer DB. Fryns syndrome: a new definition. Pediatric pathology 1994. link 17 Stratton RF, Young RS, Heiman HS, Carter JM. Fryns syndrome. American journal of medical genetics 1993. link 18 Hanssen AM, Schrander-Stumpel CT, Thiry PA, Fryns JP. Fryns syndrome: another example of non-lethal outcome with severe mental handicap. Genetic counseling (Geneva, Switzerland) 1992. link 19 Willems PJ, Keersmaekers GH, Dom KE, Colpaert C, Schatteman E, Vergote IB et al.. Fryns syndrome without diaphragmatic hernia?. American journal of medical genetics 1991. link 20 de Jong G, Rossouw RA, Retief AE. Ring chromosome 15 in a patient with features of Fryns' syndrome. Journal of medical genetics 1989. link 21 Bamforth JS, Leonard CO, Chodirker BN, Chitayat D, Gritter HL, Evans JA et al.. Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. American journal of medical genetics 1989. link 22 Clark RD, Fenner-Gonzales M. Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2. American journal of medical genetics 1989. link 23 Schwyzer U, Briner J, Schinzel A. Fryns syndrome in a girl born to consanguineous parents. Acta paediatrica Scandinavica 1987. link 24 Young ID, Simpson K, Winter RM. A case of Fryns syndrome. Journal of medical genetics 1986. link 25 Meinecke P, Fryns JP. The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. Clinical genetics 1985. link 26 Coté GB, Papadakou-Lagoyanni S, Kairis M. Fryns syndrome without deletion 16q. Annales de genetique 1980. link

    Original source

    1. [1]
      Fryns syndrome: a lethal mesoectodermal birth defect with variable expression in a pair of monozygotic twins. — Pratap A, Agrawal A, Raja S, Khaniya S, Tiwari A, Kumar A Singapore medical journal (2007)
    2. [2]
      Fryns syndrome without diaphragmatic hernia. Report on a new case and review of the literature. — Alessandri L, Brayer C, Attali T, Samperiz S, Tiran-Rajaofera I, Ramful D et al. Genetic counseling (Geneva, Switzerland) (2005)
    3. [3]
      A case of Fryns syndrome without diaphragmatic hernia and review of the literature. — Vasudevan PC, Stewart H Clinical dysmorphology (2004)
    4. [4]
      Eye abnormalities in Fryns syndrome. — Pierson DM, Taboada E, Butler MG American journal of medical genetics. Part A (2004)
    5. [5]
      Documentation of anomalies not previously described in Fryns syndrome. — Arnold SR, Debich-Spicer D D, Opitz JM, Gilbert-Barness E American journal of medical genetics. Part A (2003)
    6. [6]
      Newborn with anophthalmia and features of Fryns syndrome. — Pierson DM, Subtil A, Taboada E, Butler MG Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society (2002)
    7. [7]
      Discordant phenotype in monozygotic twins with Fryns syndrome. — Vargas JE, Cox GF, Korf BR American journal of medical genetics (2000)
    8. [8]
      Ocular findings in Fryns syndrome. — Cursiefen C, Schlötzer-Schrehardt U, Holbach LM, Vieth M, Kuchelmeister K, Stolte M Acta ophthalmologica Scandinavica (2000)
    9. [9]
      Variability in the phenotypic expression of fryns syndrome: A report of two sibships. — Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H American journal of medical genetics (2000)
    10. [10]
      Fryns syndrome phenotype and trisomy 22. — Ladonne JM, Gaillard D, Carré-Pigeon F, Gabriel R American journal of medical genetics (1996)
    11. [11]
      Skeletal manifestations in Fryns syndrome. — Tsukahara M, Sase M, Tateishi H, Saito T, Kato H, Furukawa S American journal of medical genetics (1995)
    12. [12]
      Fryns syndrome: two further cases without lateral diaphragmatic defects. — Bartsch O, Meinecke P, Kamin G Clinical dysmorphology (1995)
    13. [13]
      Fryns syndrome survivors and neurologic outcome. — Van Hove JL, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, Iafolla AK, Kahler SG American journal of medical genetics (1995)
    14. [14]
      Fryns syndrome: neurologic findings in a survivor. — Riela AR, Thomas IT, Gonzalez AR, Ifft RD Journal of child neurology (1995)
    15. [15]
      Prenatal diagnosis and long survival of Fryns' syndrome. — Gadow EC, Lippold S, Serafin E, Salgado LJ, Garcia C, Prudent L Prenatal diagnosis (1994)
    16. [16]
      Fryns syndrome: a new definition. — Pinar H, Carpenter MW, Abuelo D, Singer DB Pediatric pathology (1994)
    17. [17]
      Fryns syndrome. — Stratton RF, Young RS, Heiman HS, Carter JM American journal of medical genetics (1993)
    18. [18]
      Fryns syndrome: another example of non-lethal outcome with severe mental handicap. — Hanssen AM, Schrander-Stumpel CT, Thiry PA, Fryns JP Genetic counseling (Geneva, Switzerland) (1992)
    19. [19]
      Fryns syndrome without diaphragmatic hernia? — Willems PJ, Keersmaekers GH, Dom KE, Colpaert C, Schatteman E, Vergote IB et al. American journal of medical genetics (1991)
    20. [20]
      Ring chromosome 15 in a patient with features of Fryns' syndrome. — de Jong G, Rossouw RA, Retief AE Journal of medical genetics (1989)
    21. [21]
      Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome. — Bamforth JS, Leonard CO, Chodirker BN, Chitayat D, Gritter HL, Evans JA et al. American journal of medical genetics (1989)
    22. [22]
      Apparent Fryns syndrome in a boy with a tandem duplication of 1q24-31.2. — Clark RD, Fenner-Gonzales M American journal of medical genetics (1989)
    23. [23]
      Fryns syndrome in a girl born to consanguineous parents. — Schwyzer U, Briner J, Schinzel A Acta paediatrica Scandinavica (1987)
    24. [24]
      A case of Fryns syndrome. — Young ID, Simpson K, Winter RM Journal of medical genetics (1986)
    25. [25]
      The Fryns syndrome: diaphragmatic defects, craniofacial dysmorphism, and distal digital hypoplasia. Further evidence for autosomal recessive inheritance. — Meinecke P, Fryns JP Clinical genetics (1985)
    26. [26]
      Fryns syndrome without deletion 16q. — Coté GB, Papadakou-Lagoyanni S, Kairis M Annales de genetique (1980)
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