Genetic Analysis of Fraser Syndrome and Fryns Syndrome

NCT00032877 | Completed

• 2 other identifiers: 02014802-HG-0148
• Study Type: observational
• Target: 400
• Locations: 1 country
• Sites: 1

Brief Summary

This study will examine blood or other tissue samples from patients with Fraser syndrome and patients with Fryns syndrome to try to identify the gene responsible for these diseases. Fraser syndrome is characterized by congenital abnormalities including cryptophthalmos (lack of eyelid formation), syndactyly (webbed fingers or toes) and abnormal genitalia. Patients may also have abnormalities of the nose, ears and larynx (voice box), cleft lip or palate, and kidney agenesis. Fryns syndrome is characterized by hernia through the diaphragm, cloudy cornea, coarse facial features, cleft lip or palate, abnormal fingers and toes, heart, kidney and brain malformations and hydrocephalus (accumulation of fluid around the brain). This protocol consists of laboratory study only; it does not involve patient care or patient counseling. Patients with Fraser syndrome or Fryns syndrome are eligible for this study. Parents and healthy siblings of patients will also be included for genetic study, and parents of children with undiagnosed multiple congenital anomalies syndromes will be included for comparison study. Participants will provide a blood sample (about 8 to 10 teaspoons from adults; 1 to 3 teaspoons from children) or sample of skin cells collected by swabbing the inner surface of the cheek. Some patients may undergo a skin biopsy, in which a small skin sample (about 1/8-inch in diameter) is surgically removed. The tissue samples will be used to obtain DNA (genetic material) for laboratory testing. A permanent cell line-a collection of cells grown in the laboratory from the original tissue specimen-will also be established to enable additional testing in the future.

Conditions

Fraser Syndrome; Fryns Syndrome; Chromosomal Abnormalities; Abnormalities, Multiple

Keywords

Linkage Study; Gene Identification Study; Diaphragmatic Hernia; Fraser Syndrome; Cryptophthalmos; Fryns Syndrome; Hydrolethalus Syndrome; Positional Cloning

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

You may qualify if:

• Satisfying diagnostic criteria for Fraser syndrome. These are at least two major criteria and one minor criterion (listed below) or one major criterion and four minor criteria.
• Major criteria:
• Cryptophthalmos
• Syndactyly
• Abnormal genitalia
• Sib with cryptophthalmos syndrome
• Minor criteria:
• Congenital malformation of the nose
• Congenital malformations of the ears
• Congenital malformation of the larynx
• Cleft lip and/or palate
• Skeletal defects
• Umbilical hernia
• Renal agenesis
• Mental retardation

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Human Genome Research Institute (NHGRI)

Bethesda, Maryland, 20892, United States

Location

Related Publications (3)

• Acosta JM, Chai Y, Meara JG, Bringas P Jr, Anderson KD, Warburton D. Prenatal exposure to nitrofen induces Fryns phenotype in mice. Ann Plast Surg. 2001 Jun;46(6):635-40. doi: 10.1097/00000637-200106000-00012.

  PMID: 11405365 BACKGROUND

• Andiran F, Tanyel FC, Hicsonmez A. Fraser syndrome associated with anterior urethral atresia. Am J Med Genet. 1999 Feb 12;82(4):359-61. doi: 10.1002/(sici)1096-8628(19990212)82:43.0.co;2-q. No abstract available.

  PMID: 10051174 BACKGROUND

• Balci S, Altinok G, Ozaltin F, Aktas D, Niron EA, Onol B. Laryngeal atresia presenting as fetal ascites, olygohydramnios and lung appearance mimicking cystic adenomatoid malformation in a 25-week-old fetus with Fraser syndrome. Prenat Diagn. 1999 Sep;19(9):856-58. doi: 10.1002/(sici)1097-0223(199909)19:93.0.co;2-x.

  PMID: 10521845 BACKGROUND

MeSH Terms

Conditions

Fraser Syndrome; Fryns syndrome; Chromosome Aberrations; Abnormalities, Multiple; Hernia, Diaphragmatic; Hydrolethalus syndrome

Condition Hierarchy (Ancestors)

Syndactyly; Synostosis; Dysostoses; Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Limb Deformities, Congenital; Musculoskeletal Abnormalities; Eye Abnormalities; Eye Diseases; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Internal Hernia; Hernia; Pathological Conditions, Anatomical

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: April 4, 2002
• First Posted: April 5, 2002
• Study Start: April 1, 2002
• Study Completion: February 1, 2003
• Last Updated: March 4, 2008

Record last verified: 2003-02

Locations

US (1)