National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Fryns syndrome


Other Names:
Moerman Van den berghe Fryns syndrome; FRNS; Diaphragmatic hernia, abnormal face, and distal limb anomalies
Categories:
Fryns syndrome is a condition that affects the development of many parts of the body. Signs and symptoms vary widely among affected individuals. Many indiivduals with this condition have defects of the diaphragm such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). This may allow the stomach and intestines to move into the chest, which can result in pulmonary hypoplasia (underdevelopment of the lungs). Other signs and symptoms may include abnormalities of the fingers and toes; distinctive facial features; severe developmental delay and intellectual disability; and abnormalities of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. survival beyond the neonatal period is rare. The cause of Fryns syndrome is not known, but it is thought to be genetic and appears to be inherited in an autosomal recessive manner.[1][2][3] Treatment may involve a team of specialists and generally involves surgical correction of internal anomalies like diaphramatic hernia.[2][3]
Last updated: 9/25/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia/Hypoplasia of the nipples
Absent/small nipples
Absent/underdeveloped nipples
[ more ] 		0006709
Broad forehead
Increased width of the forehead
Wide forehead
[ more ] 		0000337
Congenital diaphragmatic hernia 0000776
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hypoplastic fingernail
Small fingernail
Underdeveloped fingernail
[ more ] 		0001804
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Long philtrum 0000343
Low-set, posteriorly rotated ears 0000368
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Multicystic kidney dysplasia 0000003
Pulmonary hypoplasia
Small lung
Underdeveloped lung
[ more ] 		0002089
Severe global developmental delay 0011344
Short neck
Decreased length of neck
0000470
Tented upper lip vermilion 0010804
Wide nasal bridge
Broad nasal bridge
Broad nasal root
Broadened nasal bridge
Increased breadth of bridge of nose
Increased breadth of nasal bridge
Increased width of bridge of nose
Increased width of nasal bridge
Nasal bridge broad
Wide bridge of nose
Widened nasal bridge
[ more ] 		0000431
30%-79% of people have these symptoms
Abnormal cardiac septum morphology 0001671
Agenesis of corpus callosum 0001274
Anteverted nares
Nasal tip, upturned
Upturned nasal tip
Upturned nose
Upturned nostrils
[ more ] 		0000463
Cerebral cortical atrophy
Decrease in size of the outer layer of the brain due to loss of brain cells
0002120
Cleft palate
Cleft roof of mouth
0000175
Clinodactyly of the 5th finger
Permanent curving of the pinkie finger
0004209
Coarse facial features
Coarse facial appearance
0000280
Corneal opacity 0007957
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Median cleft lip
Central cleft upper lip
0000161
Non-midline cleft lip 0100335
Polyhydramnios
High levels of amniotic fluid
0001561
Seizure 0001250
Short distal phalanx of finger
Short outermost finger bone
0009882
Tetralogy of Fallot 0001636
Thickened nuchal skin fold
Thickened skin folds of neck
Thickened skin over the neck
[ more ] 		0000474
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples
[ more ] 		0006610
Wide mouth
Broad mouth
Large mouth
[ more ] 		0000154
5%-29% of people have these symptoms
Abnormal aortic arch morphology 0012303
Aganglionic megacolon
Enlarged colon lacking nerve cells
0002251
Anal atresia
Absent anus
0002023
Bicornuate uterus
Heart shaped uterus
Heart-shaped uterus
[ more ] 		0000813
Dandy-Walker malformation 0001305
Duodenal atresia
Absence or narrowing of first part of small bowel
0002247
Ectopic anus
Abnormal anus position
0004397
Gastroesophageal reflux
Acid reflux
Acid reflux disease
Heartburn
[ more ] 		0002020
Hydronephrosis 0000126
Hypospadias 0000047
Intestinal malrotation 0002566
Microphthalmia
Abnormally small eyeball
0000568
Narrow chest
Low chest circumference
Narrow shoulders
[ more ] 		0000774
Omphalocele 0001539
Vesicoureteral reflux 0000076
Percent of people who have these symptoms is not available through HPO
Abnormality of the helix 0011039
Anonychia
Absent nails
Aplastic nails
[ more ] 		0001798
Aplasia of the left hemidiaphragm 0009112
Arrhinencephaly 0002139
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Autosomal recessive inheritance 0000007
Bifid scrotum
Cleft of scrotum
0000048
Blepharophimosis
Narrow opening between the eyelids
0000581
Broad ribs
Wide ribs
0000885
Camptodactyly
Permanent flexion of the finger or toe
0012385
Chylothorax 0010310
Cleft upper lip
Harelip
0000204
Ectopic pancreatic tissue
Abnormal pancreas location
0006278
Esophageal atresia
Birth defect in which part of esophagus did not develop
0002032
Facial hirsutism 0009937
Hypoplasia of olfactory tract 0007036
Hypoplasia of the optic tract
Underdeveloped optic tract
0007096
Joint contracture of the hand 0009473
Large for gestational age
Birth weight > 90th percentile
Birthweight > 90th percentile
[ more ] 		0001520
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Meckel diverticulum 0002245
Microretrognathia
Small retruded chin
0000308
Narrow palpebral fissure
Small opening between the eyelids
0045025
Opacification of the corneal stroma 0007759
Polysplenia
Multiple small spleens
0001748
Prominent fingertip pads
Prominent finger pads
0001212
Proximal placement of thumb
Attachment of thumb close to wrist
0009623
Renal agenesis
Absent kidney
Missing kidney
[ more ] 		0000104
Renal cyst
Kidney cyst
0000107
Rocker bottom foot
Rocker bottom feet
Rocker-bottom feet
Rockerbottom feet
[ more ] 		0001838
Shawl scrotum
Scrotum surrounds penis
0000049
Short thumb
Short thumbs
Small thumbs
[ more ] 		0009778
Single transverse palmar crease 0000954
Small nail
Small nails
0001792
Stillbirth
Stillborn
0003826
Thin ribs
Slender ribs
0000883
Thoracic hypoplasia
Small chest
Small thorax
[ more ] 		0005257
Ureteral duplication
Double ureter
0000073
Ventricular septal defect
Hole in heart wall separating two lower heart chambers
0001629
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Last updated: 7/1/2020
Although the exact cause of Fryns syndrome is unknown, it is thought to be genetic because it tends to "run in families" and has features common to other genetic disorders.[1][2][3] Several chromosomal abnormalities involving chromosome bands 15q26.2 and 8p23.1 have been reported in some individuals with the condition, but no specific disease-causing gene has yet been identified.[3] 
Last updated: 9/25/2016

Fryns syndrome appears to be inherited in an autosomal recessive manner.[1][2][3] This means that both copies of the disease-causing gene in each cell of the body (one copy inherited from each parent) have mutations. The parents of an affected individual are referred to as carriers, who typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a:

  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% (1 in 4) chance to be unaffected and not be a carrier
Last updated: 9/25/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes Donnai-Barrow syndrome, Matthew-Wood syndrome, Simpson-Golabi-Behmel syndrome, Cornelia de Lange syndrome, tetrasomy 12p, distal monosomy 15q (see these terms) and other chromosome aberrations.
Visit the Orphanet disease page for more information.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.
  • ClinicalTrials.gov lists trials that are related to Fryns syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Fryns syndrome. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Fryns syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • What are the chances of having a normal baby after having a baby diagnosed with Fryns syndrome? See answer


  1. Fryns syndrome. Genetics Home Reference. May 2010; http://ghr.nlm.nih.gov/condition/fryns-syndrome.
  2. Slavotinek A. Fryns Syndrome. GeneReviews. January 29, 2015; https://www.ncbi.nlm.nih.gov/books/NBK1459/.
  3. Slavotinek A. Fryns syndrome. Orphanet. December 2014; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059.