Fraser Syndrome Awareness

Nearly two years to the day Wafa first met Hussein, the boy arrived in the United States for medical attention. His medical records were incomplete, and in fact he had not been diagnosed with Fraser Syndrome. With the help of many volunteers and a team of excellent medical professionals, Hussein received eight surgeries during his ten month stay in the U.S. He received four hand surgeries to open vascular blood flow in his fingers and separate his hands, finally giving him a total of ten fingers; two surgeries to correct the abnormalities of his genitalia; and two surgeries to widen his ear canal.

Hussein is now back in Lebanon and adjusting to a public school. He yet requires additional surgeries, and your help is needed. __Please donate to Hussein and the cause of Fraser Syndrome Awareness.

Lack of Research

No research exists that details the number of children born with Fraser Syndrome, as many are still born or terminated before birth. The syndrome has no cure and currently no effective treatments. Forty-five percent of all children born with the disorder die within the first four years of life. The ALO Cultural Foundation is committed to changing this statistic. Our ultimate goal is to bring awareness to the disorder and fund the research to eventually find a cure.

If you or someone you know is living with Fraser Syndrome, we encourage you to tell us your story and see how we can help.

Program Goals

The program aims to educate, empower and enlighten parents, doctors and those living with Fraser Syndrome, by providing information, and when possible, assistance.

In many countries proper medical care is not available, making it nearly impossible for parents and even doctors to obtain information about this rare disorder. The ALO Cultural Foundation’s ultimate goal is to educate the world about the disorder, bringing it to the forefront of medical research.

Donate to Hussein’s cause

Donate to Fraser Syndrome Awareness Program

Should you need assistance, please contact us.

About Fraser Syndrome

Fraser Syndrome is a rare non-sex linked recessive genetic disorder that affects one out of every 100,000 births. The mutated gene that causes Fraser Syndrome must be a gene carried by both parents in order for it to be passed down through the blood line.

Fraser Syndrome is characterized by developmental defects that can include malformations of the nose, ears, larynx and renal system, mental retardation, fused finger or toes, and cryptophthalmos (eyelids fail to separate in each eye). Fifty percent of Fraser patients have abnormalities of the genitals and 37% of those affected have kidney complications including a lack of one or both of the organs.

Cryptophthalmos can come in three forms; compete, incomplete, and abortive. Individuals affected by the complete form of cryptophthalmos have eyelids that are completely fused over an existing eye. Those with incomplete crytophthalmos have an eyelid that is only partially fused over the underlying eye. Persons affected with the abortive type of crytophthalmos have an eyelid that is completely fused and the underlying eye does not form.

The gene responsible for the Fraser Syndrome is unknown but what is known is that the gene alters the normal cell death process in individuals with the disorder. Normally, cells die when survival conditions are not met. New cells then replace them. With Fraser Syndrome patients, cells that cause overgrowth do not die on schedule and continue to grow, causing crytophthalmos, or excess tissue in the fingers or toes.

The signs of Fraser Syndrome are:

1. Cryptophthalmos in one or both eyes

2. Absent tear ducts

3. Widely spaced eyes

4. Partial or complete fusion of the fingers or toes

5. An extra finger or toe

6. Deaf or hearing complications

7. Inability to speak

8. Nasal complications i.e. blockage or narrowing of the nasal cavity

9. Digestive system complications

10. Abnormalities of the genitalia

11. Malformations of the kidneys

12. Navels or nipples in irregular locations

Diagnosis

Diagnosis of Fraser Syndrome can be done as early as the second trimester of pregnancy and is accomplished visually through ultra sound. Diagnosis of Fraser Syndrome has not been perfected. Today's accepted standard is that if a patient has two of the following main characteristics and at least four of the eight minor characteristics, then a patient may be classified as having Fraser Syndrome.

Main Characteristics:

1. Cryptophthalmos

2. Fused or partially fused fingers and toes

3. Genital abnormalities

4. Existence of affected sibling

Minor Characteristics:

1. Malformations of the nose

2. Malformations of the ears

3. Malformations of the voice box

4. Protrusion of parts of the large intestine through an abnormal opening in the abdominal wall near the navel

5. Absence or incomplete development of one or both kidneys

6. Abnormalities of the bones other than syndactyly (fused fingers or toes)

7. Cleavage of the tongue or other oral clefs

8. Mental retardation

Treatment

The serious abnormalities found in patients make treatments of the syndrome limited. From the standpoint of prenatal care, genetic counseling can be effective in the planning of future management of the disorder. Genetic counseling can help prepare future parents for which particular abnormalities they may be facing and give them time to look for help, options and treatments.

At birth, the majority of Fraser survivors are blind but in some cases partial vision is possible. In these cases, one must look for light sensitivity or wincing. If these are present, surgery may be an option to repair a portion of the damaged eye lids. Corneal transplant surgery has been used in some cases to achieve improvements in vision. If the eye is completely missing at birth, reshaping of the eye socket is a necessity and a glass eye can be used for cosmetic purposes. Many children who survive Fraser Syndrome are born deaf and specialty programs for the hearing and vision impaired will be needed.

With more serious Fraser Syndrome abnormalities such as kidney and larynx complications, the abnormalities can be repaired. The majority of children with a blockage or broken larynx are either stillborn or they die shortly after birth. In cases that are not so severe such as a narrowing of the larynx, corrective surgery is a possibility. Children born with both kidneys absent are stillborn. If the only one kidney is present or the kidney(s) is improperly developed, dialysis or a kidney transplant may be necessary.

Prognosis

Life expectancy of a Fraser Syndrome patient depends on many different factors. The type and severity of the kidney or voice box malformations is determined at prognosis and will play a direct factor in the patient’s chances of survival. Twenty-five percent of all children born with Fraser Syndrome are still born and 20% of the remaining survivors will die within the first year, often times in the first few weeks of life. The remaining 55% of affected Fraser patients have a normal life expectancy.