Fryns Syndrome

Description

Fryns syndrome (FS) is a multiple congenital anomaly syndrome characterized by dysmorphic facial features, congenital diaphragmatic hernia, pulmonary hypoplasia, and distal limb hypoplasia, in addition to variable expression of additional malformations.

Clinical Features

Top most frequent phenotypes and symptoms related to Fryns Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism

And another 147 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available FRYNS SYNDROME have a estimated birth prevalence of 7 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Fryns Syndrome Is also known as diaphragmatic hernia, abnormal face, and distal limb anomalies, diaphragmatic hernia-abnormal face-distal limb anomalies syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Fryns Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation-Epileptic Encephalopathy.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN8A, SCN9A, ST3GAL5, SLC2A1, SLC35A2, SLC9A6, SIK1, SPTAN1, CDKL5, STXBP1, SYNGAP1, TCF4, TREX1, UBE3A, WWOX, CNTNAP2, CACNA2D1 , (...)

View the complete list with 47 more genes
Specificity
2 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc (United States).

SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
CustomNext: Neuro.

By Ambry Genetics (United States).

RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
Neurodevelopment-Expanded.

By Ambry Genetics (United States).

RPL10, RPS6KA3, SCN1A, SCN1B, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, SNAP25 , (...)

View the complete list with 176 more genes
Specificity
1 %
Genes
100 %
IDNext.

By Ambry Genetics (United States).

RPL10, RPS6KA3, SCN2A, SCN8A, ST3GAL3, SLC16A2, SLC2A1, SLC6A8, SLC9A6, SMARCA2, SMARCA4, SMARCB1, SMC1A, KDM5C, SMS, CDKL5, SYN1, SYNGAP1, TBR1, TCF4 , (...)

View the complete list with 120 more genes
Specificity
1 %
Genes
100 %
Macrocephaly (NGS panel for 16 genes).

By CGC Genetics (Portugal).

MED12, NSD1, MLC1, HEPACAM, DHCR24, EZH2, AKT3, GFAP, GPC3, ASPA, NFIX, PIGA, PIGN, PIK3CA, PIK3R2, PTEN
Specificity
7 %
Genes
100 %
Multiple congenital anomalies-hypotonia-seizures syndrome 1 (sequence analysis of PIGN gene).

By CGC Genetics (Portugal).

PIGN
Specificity
100 %
Genes
100 %

We have 11 more panels available in our App

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Sources and references

You can check the following sources for additional information.

MESH OMIM ORPHANET Genetic Syndrome Finder

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