Feingold Syndrome 1; Fglds1

Description

Feingold syndrome is an autosomal dominant disorder characterized by variable combinations of microcephaly, limb malformations, esophageal and duodenal atresias, and learning disability/mental retardation. Hand and foot abnormalities may include hypoplastic thumbs, clinodactyly of second and fifth fingers, syndactyly (characteristically between second and third and fourth and fifth toes), and shortened or absent middle phalanges. Cardiac and renal malformations, vertebral anomalies, and deafness have also been described in a minority of patients (summary by Teszas et al., 2006). Genetic Heterogeneity of Feingold SyndromeFeingold syndrome-2 (FGLDS2 ) is caused by hemizygous deletion of the MIR17HG gene (OMIM ) on chromosome 13q31.3.

Clinical Features

Top most frequent phenotypes and symptoms related to Feingold Syndrome 1; Fglds1

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Low-set ears

And another 67 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .

Alternative names

Feingold Syndrome 1; Fglds1 Is also known as digital anomalies with short palpebral fissures and atresia of esophagus or duodenum, microcephaly, mental retardation, and tracheoesophageal fistula syndrome, oded syndrome, mmt syndrome, oculodigitoesophagoduodenal syndrome, moded, feingold syndrome, microceph.

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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Feingold Syndrome 1; Fglds1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Brain Malformation Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Microcephaly.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

STIL, SLC9A6, CDKL5, TCF4, UBE3A, RAB18, SLC25A19, ZEB2, CASK, PCNT, RAB3GAP1, RAB3GAP2, CENPJ, IER3IP1, CDK5RAP2, ASPM, TUBB3, WDR62, DHCR7, NIPBL , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Facial Dysostosis Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

SF3B4, TCOF1, ALX1, EVC2, POLR1C, POLR1D, CHD7, DHODH, ZSWIM6, EFTUD2, EFNB1, EVC, ALX3, ALX4, MYCN, PDE4D, PRKAR1A
Specificity
6 %
Genes
100 %
MYCN Gene Sequencing.

By GeneDx (United States).

MYCN
Specificity
100 %
Genes
100 %
Feingold Syndrome 1.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children (United States).

MYCN
Specificity
100 %
Genes
100 %
MYCN. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

MYCN
Specificity
100 %
Genes
100 %
Craniofacial Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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