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GTR Home > Conditions/Phenotypes > Feingold syndrome type 1

Feingold syndrome type 1

Synonyms
Digital anomalies with short palpebral fissures and atresia of esophagus, or duodenum; MICROCEPHALY AND DIGITAL ABNORMALITIES WITH NORMAL INTELLIGENCE; MICROCEPHALY, MENTAL RETARDATION, AND TRACHEOESOPHAGEAL FISTULA SYNDROME; Microcephaly-oculo-digito-esophageal-duodenal syndrome; Oculodigitoesophagoduodenal syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Feingold Syndrome 1
Feingold syndrome 1 (referred to as FS1 in this GeneReview) is characterized by digital anomalies (shortening of the 2nd and 5th middle phalanx of the hand, clinodactyly of the 5th finger, syndactyly of toes 2-3 and/or 4-5, thumb hypoplasia), microcephaly, facial dysmorphism (short palpebral fissures and micrognathia), gastrointestinal atresias (primarily esophageal and/or duodenal), and mild-to-moderate learning disability.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Carlo LM Marcelis
Arjan PM de Brouwer
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Available tests

31 tests are in the database for this condition.

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Clinical tests (31 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: FGLDS1, MODED, MPAPA, MYCNsORF, MYCNsPEP, N-myc, NMYC, ODED, bHLHe37, MYCN
    Summary: MYCN proto-oncogene, bHLH transcription factor

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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