Journal of Postgraduate Medicine
 Open access journal indexed with Index Medicus & ISI's SCI  
Users online: 833  
Home | Subscribe | Feedback | Login 
About Latest Articles Back-Issues Articlesmenu-bullet Search Instructions Online Submission Subscribe Etcetera Contact
 :: Next article
 :: Previous article 
 :: Table of Contents
 ::  Similar in PUBMED
 ::  Search Pubmed for
 ::  Search in Google Scholar for
 ::Related articles
 ::  Article in PDF (183 KB)
 ::  Citation Manager
 ::  Access Statistics
 ::  Reader Comments
 ::  Email Alert *
 ::  Add to My List *
* Registration required (free) 

  IN THIS Article
 ::  Discussion
 ::  References
 ::  Article Figures

 Article Access Statistics
    PDF Downloaded189    
    Comments [Add]    
    Cited by others 2    

Recommend this journal


Year : 2002  |  Volume : 48  |  Issue : 2  |  Page : 129-30

Fryns syndrome.

Department of Neonatology, Kirwan Hospital for Women, Townsville, Queensland 4814, Australia., Australia

Correspondence Address:
S M Jog
Department of Neonatology, Kirwan Hospital for Women, Townsville, Queensland 4814, Australia.
Login to access the Email id

Source of Support: None, Conflict of Interest: None

PMID: 12215698

Rights and PermissionsRights and Permissions

Keywords: Abnormalities, Multiple, diagnosis,Adolescent, Apgar Score, Case Report, Cornea, abnormalities,Craniofacial Abnormalities, diagnosis,Ear, abnormalities,Fatal Outcome, Female, Gestational Age, Hand Deformities, diagnosis,Hernia, Diaphragmatic, diagnosis,Human, Infant, Newborn, Male, Neck, abnormalities,Nose, abnormalities,Pregnancy, Pregnancy Outcome, Syndrome, Ultrasonography, Prenatal, methods,

How to cite this article:
Jog S M, Patole S K, Whitehall J S. Fryns syndrome. J Postgrad Med 2002;48:129

How to cite this URL:
Jog S M, Patole S K, Whitehall J S. Fryns syndrome. J Postgrad Med [serial online] 2002 [cited 2023 Jun 6];48:129. Available from:

A 17-year-old (G1P0) Australian aboriginal mother delivered a male neonate weighing 2400 grams following a spontaneous vaginal delivery at term. Antenatal scan at 29 weeks’ gestation had shown congenital diaphragmatic hernia (CDH) along with multiple anomalies suggestive of Fryns syndrome [Figure:1,2]. There was no polyhydramnios. Karyotyping was normal and alpha-foetoprotein was in normal range. The neonate was electively intubated in view of CDH (Apgar scores: 3 and 5 at 1 and 5 minutes respectively). Clinical examination revealed multiple congenital anomalies associated with right-sided CDH suggestive of Fryns syndrome. They included coarse facial features, hypertelorism, corneal clouding, broad nasal root, absent malformed right ear, rudimentary left ear with absent external auditory canal, very short neck, and a scaphoid abdomen due to the large CDH with herniation of liver in the thoracic cavity. The limb abnormalities included absent right radius, clinodactly, hypoplasia of the thumb, and long slender fingers, simian crease on right hand, and increased space between first and second toes. There were 11 ribs bilaterally and hemivertebrae were noted at C6 and T1 level. Echocardiography revealed large ventricular septal defect, atrial septal defect and left pulmonary artery could not be visualised. Head ultrasound revealed dilated lateral ventricles whereas renal scan was normal. Death occurred at 18 hours of age after withdrawal of life support following failure of maximal medical therapy for pulmonary hypoplasia with severe persistent pulmonary hypertension of the newborn. Withdrawal of life support was delayed mainly to allow appropriate counselling of the mother. Autopsy was not done as per the wish of the mother. There was no history of similar problems in the family.

  ::   Discussion Top

Fryns syndrome is an autosomal recessive, multiple congenital anomaly syndrome with an incidence of 1 in 10,000 births.[2] It is characterised by CDH, unusual facies and distal limb hypoplasia. The spectrum of distal limb hypoplasia includes short and broad hands, short digits, short or absent terminal phalanges, hypoplastic or absent nails, and clinodactyly. Though distal digital hypoplasia is universal, to our knowledge radial hypoplasia has not yet been reported in Fryns syndrome. Radial hypoplasia and hypoplasia/aplasia of the thumb are commonly seen together in Roberts- SC phocomelia, Vater association, and in Holt-Oram, Levy-Hollister, Baller-Gerold, Fanconi pancytopenia, radial aplasia-thrombocytopenia, and Aase syndromes. However, these are not associated with CDH. They are also seen together (without CDH) occasionally in Cat eye, de Lange, Seckel syndromes, trisomy 13, 18, and foetal valproate syndromes.

The  Pallister-Killian syndrome More Details, one of the close differentials of Fryns syndrome, is a rare polymalformative complex characterised by a tissue specific mosaic distribution of an additional isochromosome 12p and characterised by CDH, rhizomelic limb shortening, facial anomalies and, rarely, acral hypoplasia.[1] Chromosomes of peripheral lymphocyte are usually normal in Pallister-Killian syndrome, but tissue cultures show varying degrees of mosaicism for isochromosome 12p. Since CDH and acral hypoplasia can also be found in Fryns syndrome, the differential diagnosis between the two conditions depends on the demonstration of the 12p isochromosome by FISH test on fibroblast/bone marrow cultures. Such an approach avoids inappropriate counselling by giving an erroneously high recurrence risk in any newborn with CDH and dysmorphic features and a normal peripheral blood karyotype.

Neurologic and cardiac malformations have been reported in up to 72% and 88% of Fryns syndrome cases respectively. First described in 1979, this syndrome is usually associated with stillbirth and death soon after birth.[2] Patients who survive the neonatal period represent 14% of reported cases.[3] Characteristics of survivors include less frequent CDH and milder lung hypoplasia, absence of complex cardiac malformations, frequent early myoclonus, and most often, severe neurologic impairment.[3],[4] A significant inter and intra-familial phenotypic variability as well as discordant phenotype in monozygotic twins has been reported.[5],[6] Detection of foetal hydrops, cystic hygroma, and multiple pterygia have allowed prenatal ultrasonographic diagnosis as early as in the 11th week of gestation.[6]

 :: References Top

1.Paladini D, Borghese A, Arienzo M, Teodoro A, Martinelli P, Nappi C. Prospective ultrasound diagnosis of Pallister- Killian syndrome in the second trimester of pregnancy: the importance of the fetal facial profile. Prenat Diagn 2000;20:996-8.  Back to cited text no. 1    
2.Pinar H, Carpenter MW, Abuelo D, Singer DB. Fryns syndrome: a new definition. Pediatr Pathol 1994;14:467-78.  Back to cited text no. 2    
3.Van Hove JL, Spiridigliozzi GA, Heinz R, McConkie-Rosell A, Iafoll AK, Kahler SG. Frynssyndrome survivors and neurologic outcome. Am J Med Genet 1995;59:334-40.  Back to cited text no. 3    
4.Langer JC, Winthrop AL, Whelan D. Fryns syndrome: a rare familial cause of congenital diaphragmatic hernia. J Pediatr Surg 1994;29: 1266-7.  Back to cited text no. 4    
5.Ramsing M, Gillessen–Kaesbach G, Holzgreve W, Fritz B, Rehder H. Variability in the phenotypic expression of Fryns syndrome: report of two sibships. Am J Med Genet 2000;95:415-24.  Back to cited text no. 5    
6.Vargas JE, Cox GF, Korf BR. Discordant phenotype in monozygotic twins with Fryns syndrome. Am J Med Genet 2000;94:42-5.  Back to cited text no. 6    


[Figure - 1], [Figure - 2]

This article has been cited by
1 Cardiovascular malformations in Fryns Syndrome: Is there a pathogenic role for neural crest cells?
Lin AE, Pober BR, Mullen MP, Slavotinek AM
2 Fryns syndrome: A review of the phenotype and diagnostic guidelines
Slavotinek AM
American Journal of Medical Genetics Part A. 2004; 124A(4): 427-433


Print this article  Email this article
Previous article Next article
Online since 12th February '04
© 2004 - Journal of Postgraduate Medicine
Official Publication of the Staff Society of the Seth GS Medical College and KEM Hospital, Mumbai, India
Published by Wolters Kluwer - Medknow