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Feingold syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Condition

Feingold syndrome

Feingold syndrome is a disorder affecting multiple body parts, characterized by specific finger and toe abnormalities, and caused by mutations in either the MYCN or MIR17HG gene.

Description

Feingold syndrome is a disorder that affects many parts of the body. There are two types of Feingold syndrome, distinguished by their genetic cause; both types have similar features that can vary among affected individuals.

Individuals with Feingold syndrome type 1 or type 2 have characteristic abnormalities of their fingers and toes. Almost all people with this condition have a specific hand abnormality called brachymesophalangy, which refers to shortening of the second and fifth fingers. Other common abnormalities include fifth fingers that curve inward, underdeveloped thumbs (thumb hypoplasia), and fusion (syndactyly) of the second and third toes or the fourth and fifth toes.

Additional common features of both types of Feingold syndrome include an unusually small head size (microcephaly), a small jaw (micrognathia), a narrow opening of the eyelids (blepharophimosis), and mild to moderate learning disabilities. Less often, affected individuals have hearing loss, short stature, or kidney or heart abnormalities.

People with Feingold syndrome type 1 are frequently born with a blockage in part of their digestive system called gastrointestinal atresia. In most cases, the blockage occurs in the esophagus (esophageal atresia) or in part of the small intestine (duodenal atresia). Individuals with type 2 do not have gastrointestinal atresias.

Frequency

Feingold syndrome appears to be a rare condition, although its exact prevalence is unknown. Type 1 is more common than type 2.

Causes

Mutations in the MYCN gene cause Feingold syndrome type 1, and mutations in chromosome 13 that remove (delete) a region of the chromosome that includes the MIR17HG gene cause type 2. Both genes are involved in growth and development, particularly before birth.

The MYCN gene provides instructions for making a protein that regulates the activity (expression) of other genes. The protein attaches (binds) to specific regions of DNA and controls the first step of protein production (transcription). Studies suggest that the MYCN protein is necessary for normal development of the limbs, heart, kidneys, lungs, nervous system, and digestive system.

The MIR17HG gene provides instructions for making a set of microRNAs (miRNAs) known as the miR-17~92 cluster. MiRNAs are short pieces of RNA, a chemical cousin of DNA. These molecules control gene expression by blocking protein production. The miRNAs in the miR-17~92 cluster are involved in the development of many tissues and organs in the body.

Mutations affecting the MYCN or MIR17HG gene that cause Feingold syndrome prevent one copy of the gene in each cell from producing any functional protein or miRNAs, respectively. As a result, only half the normal amount of the protein or miRNAs is available to control the activity of specific genes during development. It remains unclear how a reduced amount of the MYCN protein or miR-17~92 cluster miRNAs cause the specific features of Feingold syndrome.

Learn more about the genes and chromosome associated with Feingold syndrome

  • MIR17HG
  • MYCN
  • chromosome 13

Inheritance

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Other Names for This Condition

  • Brunner-Winter syndrome
  • Microcephaly-mesobrachyphalangy-tracheoesophageal fistula (MMT) syndrome
  • Microcephaly-oculo-digito-esophageal-duodenal (MODED) syndrome
  • Oculo-digito-esophagoduodental (ODED) syndrome

Frequently Asked Questions

The most characteristic early signs of Feingold syndrome are specific abnormalities of the fingers and toes, such as shortening of the second and fifth fingers (brachymesophalangy), inwardly curved fifth fingers, underdeveloped thumbs, and fused toes (syndactyly). Additionally, newborns may have an unusually small head size (microcephaly), a small jaw (micrognathia), and narrow eyelid openings (blepharophimosis). For infants with Feingold syndrome type 1, blockages in the digestive system, such as esophageal or duodenal atresia, would be apparent shortly after birth due to feeding difficulties or vomiting.
The main difference lies in the presence of gastrointestinal atresia: individuals with Feingold syndrome type 1 frequently have blockages in their digestive system (most commonly esophageal or duodenal atresia), while those with type 2 do not. This distinction is crucial for patient care because type 1 requires immediate surgical intervention to correct the gastrointestinal malformations, which are life-threatening if untreated. Both types share similar limb and facial features, as well as learning disabilities, but the genetic cause also differs (MYCN gene for type 1, MIR17HG gene for type 2).
Children with Feingold syndrome require ongoing monitoring for their specific health issues. This includes regular developmental assessments to address mild to moderate learning disabilities, often necessitating early intervention therapies and specialized educational support. Hearing should be routinely checked due to the risk of hearing loss. Kidney and heart abnormalities, though less common, warrant screening and follow-up if detected. Growth should also be monitored, as some individuals may experience short stature.
Feingold syndrome is typically inherited in an autosomal dominant pattern, meaning only one copy of the altered gene (MYCN for type 1, MIR17HG for type 2) is sufficient to cause the condition. In about 50% of cases, it results from a new (de novo) mutation in the affected child, meaning neither parent carries the mutation, and the recurrence risk for future children is low. However, if a parent has the syndrome or is a carrier, there is a 50% chance for each child to inherit the condition. Genetic testing of both parents and the child can determine the specific genetic cause and inform recurrence risk, and prenatal diagnosis options may be available for future pregnancies.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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