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Disease Profile

Fryns syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Antenatal

ICD-10

Q87.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Moerman Van den berghe Fryns syndrome; FRNS; Diaphragmatic hernia, abnormal face, and distal limb anomalies

Categories

Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases;

Summary

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]

Symptoms

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.

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

Cause

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]

Learn more

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.

      References

      1. Fryns syndrome. Genetics Home Reference. May 2010; https://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; https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2059.

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