Fryns syndrome

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Disease Profile

Fryns syndrome

Unknown

US Estimated

Europe Estimated

Age of onset

Antenatal

ICD-10

Q87.8

Inheritance

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

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

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

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

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]

Related diseases

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.

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

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

Rare Oncology News

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Rare Oncology News

Antenatal

Q87.8

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

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.

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.

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

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.

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.

Not applicable

Other names (AKA)

Categories

Summary

Symptoms

Cause

Related diseases

Learn more

Where to Start

In-Depth Information

References

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.

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