Fryns syndrome: Difference between revisions
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{{Infobox medical condition | |||
| name = Fryns syndrome | |||
| image = [[File:Autosomal_recessive_-_en.svg|200px]] | |||
| caption = Fryns syndrome is inherited in an [[autosomal recessive]] pattern. | |||
| synonyms = | |||
| pronounce = | |||
| specialty = [[Medical genetics]] | |||
| symptoms = [[Diaphragmatic hernia]], [[craniofacial dysmorphism]], [[limb abnormalities]], [[pulmonary hypoplasia]] | |||
| onset = [[Prenatal]] | |||
| duration = Lifelong | |||
| causes = [[Genetic mutation]] | |||
| risks = | |||
| diagnosis = [[Clinical examination]], [[genetic testing]] | |||
| differential = [[Pallister-Killian syndrome]], [[Zellweger syndrome]] | |||
| prevention = | |||
| treatment = [[Supportive care]], [[surgical intervention]] | |||
| medication = | |||
| prognosis = Variable, often poor | |||
| frequency = Rare | |||
| deaths = | |||
}} | |||
'''Other Names:''' Moerman Van den berghe Fryns syndrome; FRNS; Diaphragmatic hernia, abnormal face, and distal limb anomalies | '''Other Names:''' Moerman Van den berghe Fryns syndrome; FRNS; Diaphragmatic hernia, abnormal face, and distal limb anomalies | ||
Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose. | Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose. | ||
Most people with Fryns syndrome have a defect in the muscle that separates the abdomen from the chest cavity (the [[diaphragm]]). The most common defect is a [[congenital diaphragmatic hernia]], which is a hole in the diaphragm that develops before birth. This hole allows the stomach and intestines to move into the chest and crowd the heart and lungs. As a result, the lungs often do not develop properly (pulmonary [[hypoplasia]]), which can cause life-threatening breathing difficulties in affected infants. | Most people with Fryns syndrome have a defect in the muscle that separates the abdomen from the chest cavity (the [[diaphragm]]). The most common defect is a [[congenital diaphragmatic hernia]], which is a hole in the diaphragm that develops before birth. This hole allows the stomach and intestines to move into the chest and crowd the heart and lungs. As a result, the lungs often do not develop properly (pulmonary [[hypoplasia]]), which can cause life-threatening breathing difficulties in affected infants. | ||
Most people with Fryns syndrome die before birth or in early infancy from pulmonary hypoplasia caused by a congenital diaphragmatic hernia. However, a few affected individuals have lived into childhood. Many of these children have had severe [[developmental delay]] and [[intellectual disability]]. | Most people with Fryns syndrome die before birth or in early infancy from pulmonary hypoplasia caused by a congenital diaphragmatic hernia. However, a few affected individuals have lived into childhood. Many of these children have had severe [[developmental delay]] and [[intellectual disability]]. | ||
== '''Epidemiology''' == | == '''Epidemiology''' == | ||
The worldwide incidence of Fryns syndrome is unknown. More than 50 affected individuals have been reported in the medical literature. Studies suggest that Fryns syndrome occurs in 1.3 to 10 percent of all cases of congenital diaphragmatic hernia. | The worldwide incidence of Fryns syndrome is unknown. More than 50 affected individuals have been reported in the medical literature. Studies suggest that Fryns syndrome occurs in 1.3 to 10 percent of all cases of congenital diaphragmatic hernia. | ||
== '''Cause''' == | == '''Cause''' == | ||
The cause of Fryns syndrome is unknown. The disorder is thought to be genetic because it tends to run in families and has features similar to those of other genetic disorders. [[Duplications]] and [[deletion]]s in several chromosome regions have been associated with congenital [[diaphragmatic hernia]] and some of the other features of Fryns syndrome. However, no specific genetic change has been found to cause all of the signs and symptoms of this disorder. | The cause of Fryns syndrome is unknown. The disorder is thought to be genetic because it tends to run in families and has features similar to those of other genetic disorders. [[Duplications]] and [[deletion]]s in several chromosome regions have been associated with congenital [[diaphragmatic hernia]] and some of the other features of Fryns syndrome. However, no specific genetic change has been found to cause all of the signs and symptoms of this disorder. | ||
== '''Inheritance''' == | |||
Fryns syndrome appears to be inherited in an [[autosomal recessive]] pattern, which means both copies of a gene in each cell have mutations. However, no associated gene has been identified. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. | Fryns syndrome appears to be inherited in an [[autosomal recessive]] pattern, which means both copies of a gene in each cell have mutations. However, no associated gene has been identified. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition. | ||
== '''Signs and symptoms''' == | == '''Signs and symptoms''' == | ||
Many indiivduals with this condition have defects of the diaphragm such as a [[congenital diaphragmatic hernia]] (a hole in the diaphragm present at birth). | Many indiivduals with this condition have defects of the diaphragm such as a [[congenital diaphragmatic hernia]] (a hole in the diaphragm present at birth). | ||
Other major signs of Fryns syndrome include abnormalities of the fingers and toes and distinctive facial features. The tips of the fingers and toes tend to be underdeveloped, resulting in a short and stubby appearance with small or absent nails. Most affected individuals have several unusual facial features, including widely spaced eyes ([[hypertelorism]]), a broad and flat nasal bridge, a thick nasal tip, a wide space between the nose and upper lip (a long philtrum), a large mouth ([[macrostomia]]), and a small chin ([[micrognathia[[). Many also have low-set and abnormally shaped ears. | Other major signs of Fryns syndrome include abnormalities of the fingers and toes and distinctive facial features. The tips of the fingers and toes tend to be underdeveloped, resulting in a short and stubby appearance with small or absent nails. Most affected individuals have several unusual facial features, including widely spaced eyes ([[hypertelorism]]), a broad and flat nasal bridge, a thick nasal tip, a wide space between the nose and upper lip (a long philtrum), a large mouth ([[macrostomia]]), and a small chin ([[micrognathia[[). Many also have low-set and abnormally shaped ears. | ||
Several additional features have been reported in people with Fryns syndrome. These include small eyes ([[microphthalmia]]), clouding of the clear outer covering of the eye (the cornea), and an opening in the roof of the mouth ([[cleft palate]]) with or without a split in the lip (cleft lip). Fryns syndrome can also affect the development of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. | Several additional features have been reported in people with Fryns syndrome. These include small eyes ([[microphthalmia]]), clouding of the clear outer covering of the eye (the cornea), and an opening in the roof of the mouth ([[cleft palate]]) with or without a split in the lip (cleft lip). Fryns syndrome can also affect the development of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. | ||
For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. | ||
80%-99% of people have these symptoms | 80%-99% of people have these symptoms | ||
| Line 38: | Line 53: | ||
* Tented upper lip vermilion | * Tented upper lip vermilion | ||
* Wide nasal bridge(Broad nasal bridge) | * Wide nasal bridge(Broad nasal bridge) | ||
30%-79% of people have these symptoms | 30%-79% of people have these symptoms | ||
* Abnormal cardiac septum morphology | * Abnormal cardiac septum morphology | ||
| Line 59: | Line 73: | ||
* Wide intermamillary distance(Wide-spaced nipples) | * Wide intermamillary distance(Wide-spaced nipples) | ||
* Wide mouth(Broad mouth) | * Wide mouth(Broad mouth) | ||
Diagnosis | Diagnosis | ||
Diagnosis of Fryns syndrome should be suspected in individuals with the following clinical and laboratory findings. | Diagnosis of Fryns syndrome should be suspected in individuals with the following clinical and laboratory findings. | ||
'''Clinical findings''' | '''Clinical findings''' | ||
* Diaphragmatic defects including diaphragmatic hernia in any location (most commonly a posterolateral Bochdalek hernia), diaphragmatic eventration, significant diaphragm hypoplasia, or diaphragm agenesis | * Diaphragmatic defects including diaphragmatic hernia in any location (most commonly a posterolateral Bochdalek hernia), diaphragmatic eventration, significant diaphragm hypoplasia, or diaphragm agenesis | ||
| Line 68: | Line 80: | ||
* Short distal phalanges of the fingers and toes. The nails may also be small. | * Short distal phalanges of the fingers and toes. The nails may also be small. | ||
* Pulmonary hypoplasia of a significant degree. This clinical finding can accompany diaphragmatic hernia. | * Pulmonary hypoplasia of a significant degree. This clinical finding can accompany diaphragmatic hernia. | ||
Characteristic associated anomalies including at least one of the following: | Characteristic associated anomalies including at least one of the following: | ||
* [[Polyhydramnios]] | * [[Polyhydramnios]] | ||
| Line 80: | Line 91: | ||
Family history consistent with [[autosomal recessive]] inheritance (e.g., affected sibs and/or parental consanguinity). Absence of a known family history does not preclude the diagnosis. | Family history consistent with [[autosomal recessive]] inheritance (e.g., affected sibs and/or parental consanguinity). Absence of a known family history does not preclude the diagnosis. | ||
Laboratory findings. Absence of a copy number variant associated with congenital diaphragmatic hernia, including '''chromosome deletions at 15q26.2 and 8p23.1 and mosaic trisomy 1q '''. | Laboratory findings. Absence of a copy number variant associated with congenital diaphragmatic hernia, including '''chromosome deletions at 15q26.2 and 8p23.1 and mosaic trisomy 1q '''. | ||
== '''Treatment''' == | == '''Treatment''' == | ||
For congenital diaphragmatic hernia, the neonate is immediately intubated to prevent inflation of herniated bowel, surgery, and/or supportive measures as for the general population. Standardized treatment with anti-seizure medications by an experienced neurologist. Additional anomalies may require consultations and management by ophthalmology, cardiology gastroenterology, nephrology, urology, and craniofacial specialists. Developmental services as needed including feeding, motor, adaptive, cognitive, and speech/language therapy. | For congenital diaphragmatic hernia, the neonate is immediately intubated to prevent inflation of herniated bowel, surgery, and/or supportive measures as for the general population. Standardized treatment with anti-seizure medications by an experienced neurologist. Additional anomalies may require consultations and management by ophthalmology, cardiology gastroenterology, nephrology, urology, and craniofacial specialists. Developmental services as needed including feeding, motor, adaptive, cognitive, and speech/language therapy. | ||
Assess for new onset of seizures. Monitor developmental progress and educational needs. Follow up with ophthalmology, cardiology, gastroenterology, nephrology, urology, and craniofacial specialists as needed. | Assess for new onset of seizures. Monitor developmental progress and educational needs. Follow up with ophthalmology, cardiology, gastroenterology, nephrology, urology, and craniofacial specialists as needed. | ||
{{Multiple abnormalities}} | {{Multiple abnormalities}} | ||
[[Category:Syndromes affecting the nervous system]] | [[Category:Syndromes affecting the nervous system]] | ||
[[Category:Syndromes affecting the respiratory system]] | [[Category:Syndromes affecting the respiratory system]] | ||
Latest revision as of 18:32, 6 April 2025
Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
Founder, WikiMD Wellnesspedia &
W8MD's medical weight loss NYC, sleep center NYC
Philadelphia medical weight loss and Philadelphia sleep clinics
| Fryns syndrome | |
|---|---|
| Error creating thumbnail: | |
| Synonyms | |
| Pronounce | |
| Specialty | Medical genetics |
| Symptoms | Diaphragmatic hernia, craniofacial dysmorphism, limb abnormalities, pulmonary hypoplasia |
| Complications | N/A |
| Onset | Prenatal |
| Duration | Lifelong |
| Types | N/A |
| Causes | Genetic mutation |
| Risks | |
| Diagnosis | Clinical examination, genetic testing |
| Differential diagnosis | Pallister-Killian syndrome, Zellweger syndrome |
| Prevention | |
| Treatment | Supportive care, surgical intervention |
| Medication | |
| Prognosis | Variable, often poor |
| Frequency | Rare |
| Deaths | |
Other Names: Moerman Van den berghe Fryns syndrome; FRNS; Diaphragmatic hernia, abnormal face, and distal limb anomalies
Fryns syndrome is a condition that affects the development of many parts of the body. The features of this disorder vary widely among affected individuals and overlap with the signs and symptoms of several other disorders. These factors can make Fryns syndrome difficult to diagnose.
Most people with Fryns syndrome have a defect in the muscle that separates the abdomen from the chest cavity (the diaphragm). The most common defect is a congenital diaphragmatic hernia, which is a hole in the diaphragm that develops before birth. This hole allows the stomach and intestines to move into the chest and crowd the heart and lungs. As a result, the lungs often do not develop properly (pulmonary hypoplasia), which can cause life-threatening breathing difficulties in affected infants.
Most people with Fryns syndrome die before birth or in early infancy from pulmonary hypoplasia caused by a congenital diaphragmatic hernia. However, a few affected individuals have lived into childhood. Many of these children have had severe developmental delay and intellectual disability.
Epidemiology[edit]
The worldwide incidence of Fryns syndrome is unknown. More than 50 affected individuals have been reported in the medical literature. Studies suggest that Fryns syndrome occurs in 1.3 to 10 percent of all cases of congenital diaphragmatic hernia.
Cause[edit]
The cause of Fryns syndrome is unknown. The disorder is thought to be genetic because it tends to run in families and has features similar to those of other genetic disorders. Duplications and deletions in several chromosome regions have been associated with congenital diaphragmatic hernia and some of the other features of Fryns syndrome. However, no specific genetic change has been found to cause all of the signs and symptoms of this disorder.
Inheritance[edit]
Fryns syndrome appears to be inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. However, no associated gene has been identified. The parents of an individual with an autosomal recessive condition each carry one copy of the altered gene, but they typically do not show signs and symptoms of the condition.
Signs and symptoms[edit]
Many indiivduals with this condition have defects of the diaphragm such as a congenital diaphragmatic hernia (a hole in the diaphragm present at birth). Other major signs of Fryns syndrome include abnormalities of the fingers and toes and distinctive facial features. The tips of the fingers and toes tend to be underdeveloped, resulting in a short and stubby appearance with small or absent nails. Most affected individuals have several unusual facial features, including widely spaced eyes (hypertelorism), a broad and flat nasal bridge, a thick nasal tip, a wide space between the nose and upper lip (a long philtrum), a large mouth (macrostomia), and a small chin ([[micrognathia[[). Many also have low-set and abnormally shaped ears. Several additional features have been reported in people with Fryns syndrome. These include small eyes (microphthalmia), clouding of the clear outer covering of the eye (the cornea), and an opening in the roof of the mouth (cleft palate) with or without a split in the lip (cleft lip). Fryns syndrome can also affect the development of the brain, cardiovascular system, gastrointestinal system, kidneys, and genitalia. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Aplasia/Hypoplasia of the nipplesAbsent/small nipples
- Broad forehead(Increased width of the forehead)
- Congenital diaphragmatic hernia
- High palate(Elevated palate)
- Hypoplastic fingernail(Small fingernail)
- Intellectual disability(Mental deficiency)
- Long philtrum
- Low-set, posteriorly rotated ears
- Micrognathia(Little lower jaw)
- Multicystic kidney dysplasia
- Pulmonary hypoplasia(Small lung)
- Severe global developmental delay
- Short neck(Decreased length of neck)
- Tented upper lip vermilion
- Wide nasal bridge(Broad nasal bridge)
30%-79% of people have these symptoms
- Abnormal cardiac septum morphology
- Agenesis of corpus callosum
- Anteverted nares(Nasal tip, upturned)
- Cerebral cortical atrophy(Decrease in size of the outer layer of the brain due to loss of brain cells)
- Cleft palate(Cleft roof of mouth)
- Clinodactyly of the 5th finger(Permanent curving of the pinkie finger)
- Coarse facial features(Coarse facial appearance)
- Corneal opacity
- Cryptorchidism(Undescended testes)
- Hypertelorism(Wide-set eyes)
- Median cleft lip(Central cleft upper lip)
- Non-midline cleft lip
- Polyhydramnios(High levels of amniotic fluid)
- Seizure
- Short distal phalanx of finger(Short outermost finger bone)
- Tetralogy of Fallot
- Thickened nuchal skin fold(Thickened skin folds of neck)
- Wide intermamillary distance(Wide-spaced nipples)
- Wide mouth(Broad mouth)
Diagnosis Diagnosis of Fryns syndrome should be suspected in individuals with the following clinical and laboratory findings. Clinical findings
- Diaphragmatic defects including diaphragmatic hernia in any location (most commonly a posterolateral Bochdalek hernia), diaphragmatic eventration, significant diaphragm hypoplasia, or diaphragm agenesis
- Characteristic facial appearance with a coarse face, wide-set eyes, a wide and depressed nasal bridge with a broad nasal tip, a long philtrum, low-set and anomalous ears, a tented vermilion of the upper lip, wide mouth, and a small jaw
- Short distal phalanges of the fingers and toes. The nails may also be small.
- Pulmonary hypoplasia of a significant degree. This clinical finding can accompany diaphragmatic hernia.
Characteristic associated anomalies including at least one of the following:
- Polyhydramnios
- Cloudy corneas and/or microphthalmia
- Orofacial clefting
- Brain malformations including hydrocephalus, abnormalities of the corpus callosum, and Dandy-Walker malformation
- Cardiovascular malformation
- Renal dysplasia / renal cortical cysts
- Gastrointestinal malformation
- Genital malformation
Family history consistent with autosomal recessive inheritance (e.g., affected sibs and/or parental consanguinity). Absence of a known family history does not preclude the diagnosis. Laboratory findings. Absence of a copy number variant associated with congenital diaphragmatic hernia, including chromosome deletions at 15q26.2 and 8p23.1 and mosaic trisomy 1q .
Treatment[edit]
For congenital diaphragmatic hernia, the neonate is immediately intubated to prevent inflation of herniated bowel, surgery, and/or supportive measures as for the general population. Standardized treatment with anti-seizure medications by an experienced neurologist. Additional anomalies may require consultations and management by ophthalmology, cardiology gastroenterology, nephrology, urology, and craniofacial specialists. Developmental services as needed including feeding, motor, adaptive, cognitive, and speech/language therapy. Assess for new onset of seizures. Monitor developmental progress and educational needs. Follow up with ophthalmology, cardiology, gastroenterology, nephrology, urology, and craniofacial specialists as needed.
| Congenital abnormality syndromes (Q87, 759.7) | ||||||
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NIH genetic and rare disease info[edit]
Fryns syndrome is a rare disease.
| Rare and genetic diseases | ||||||
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Rare diseases - Fryns syndrome
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