Feingold syndrome type 1 (FS1)

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Feingold syndrome type 1 (FS1) is a very rare genetic disorder affecting many parts of the body. Individuals with the condition are typically born with a blockage in part of their digestive system, have unusual fingers and toes, a smaller than average head size and learning disability.

Feingold syndrome has also been called Oculodigitoesophagoduodenal syndrome or ODED syndrome (oculo-eyes, digito-fingers and toes, oesphago – food pipe, dueodenal – a part of the small intestine).

The signs and symptoms of FS1 vary between individuals with the condition.

The physical signs include some differences with the fingers and toes. There can be shortening of part of the second and fifth fingers (brachymesophalangy), little fingers that curve inwards (clinodactyly), underdeveloped thumbs (thumb hypoplasia) and fusion (syndactyly) of the second and third or the fourth and fifth toes.

A frequent problem associated with the condition is a blockage in part of the digestive system (gastrointestinal atresia) that is present at birth. For most people, the blockage occurs in the food pipe that goes from the mouth to the stomach (esophageal atresia) or in part of the small bowel (duodenal atresia).

Other common features of the condition include an unusually small head size (microcephaly), a small jaw (micrognathia), narrow opening of the eyelids (short palpebral fissures), and mild to moderate learning disability.

Less often, people with the condition have hearing loss, restricted growth, anomalies of the bones of the spine (vertebrae) and kidney and heart abnormalities.

FS1 is considered to be very rare with about 120 cases reported worldwide (2014).

Contact other families affected by FS1

Diagnosis

The diagnosis of FS1 is most often made on the basis of clinical findings from physical examination and scan results. Clinical genetic testing is available to help confirm the diagnosis.

Treatment

Unfortunately there is currently no cure for FS1.

Treatment is directed towards the specific symptoms that are apparent in each individual. This can require the coordinated efforts of a team of specialists. Any blockage of the digestive system is treated surgically. Hearing loss, kidney and heart problems are treated in the usual manner.

Developmental or educational intervention for children with learning difficulties is recommended.

Genetics and Inheritance

The only gene that has definitively been associated with FS1 to date (2016) is a gene called MYCN on chromosome 2. Full genetic analysis of the MYCN gene identifies the genetic cause of the condition in about 75% of people suspected to have FS1.

The MYCN gene provides the instruction to make a protein that is important in the formation of tissues and organs during a baby’s development in the womb.

Most people with FS1 have a parent with the condition. Others have the disorder due to a new spontaneous (de novo) genetic change that occurred around the time of conception, without either parent having the condition.

Each child of an individual with FS1 has a 50% (1 in 2) chance of inheriting the condition. This chance is the same regardless of whether the child is a girl or a boy. This pattern of inheritance is known as autosomal dominant inheritance.

Genetic Services and Testing

Genetic testing methods change over time. A genetic doctor from an NHS genetic clinic (http://www.bsgm.org.uk/information-education/genetics-centres/) can arrange testing of the MYCN gene where appropriate, review the inheritance pattern and provide up-to-date management advice. Families are welcome to seek advice from genetic services at various times of life. For example, when a child growing up with FS1 or their siblings want more details, they could attend the genetic clinic to ask about the condition for themselves.

Contact other families affected by FS1

We will try to put you in touch with other families affected by FS1. Fill in the form below and a member of our support team will get back to you within 7 working days.

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