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The Phenotype and Etiology of Proteus Syndrome and Related Overgrowth Disorders

Open (Enrolling)
Growth Disorder, Mental Retardation, Multiple Abnormalies

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Trial Information

The Phenotype and Etiology of Proteus Syndrome and Related Overgrowth Disorders

The purpose of this project is to determine the natural history and etiology of Proteus

syndrome. The natural history and the phenotypic range will be determined by clinical

assessment and longitudinal follow-up of a cohort of patients. Subjects will be screened for

eligibility using published diagnostic criteria for Proteus syndrome. The determination of

molecular etiology of this disorder will be difficult. It is extremely rare, affected
patients have a

shortened lifespan, and the disorder is sporadic. Thus the typical approach of positional

cloning is not useful. The etiology of this disorder will be studied using various

molecular biology techniques including cDNA arrays, genomic arrays, subtractive techniques,

testing of candidate genes, and other appropriate techniques. We will also test for

dysregulation of growth controlling hormones and binding proteins in vivo.

Inclusion Criteria


For Proteus Patients

All affected subjects should have the following general criteria: mosaic distribution of
lesions, progressive course, and sporadic occurrence.

In addition, they should have either 1 from A, 2 from B or 3 from C.

A. Cerebriform connective tissue nevus.

B. Epidermal nevus, Disproportionate overgrowth, specific tumors before the age of 30
years (bilateral. ovarian cystadenomas or monomorphic parotid adenoma).

C. Dysregulated adipose tissue, Vascular malformations, Lung cysts, Facial phenotype.

The Proteus mail-in and Proteus case review subjects must meet the same eligibility
standards as those who come to the clinical center and this will be determined by the
review of the materials.

Type of Study:


Study Design:


Principal Investigator

Leslie G Biesecker, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

National Human Genome Research Institute (NHGRI)


United States: Federal Government

Study ID:




Start Date:

April 1994

Completion Date:

Related Keywords:

  • Growth Disorder
  • Mental Retardation
  • Multiple Abnormalies
  • Mental Retardation
  • Growth Retardation
  • Uniparental Isodisomy
  • Imprinting
  • Multiple Abnormalities
  • Proteus Syndrome
  • Overgrowth
  • Growth Disorders
  • Mental Retardation
  • Proteus Syndrome



National Institutes of Health Clinical Center, 9000 Rockville Pike Bethesda, Maryland  20892
Childrens National Medical Center Washington, District of Columbia