Now Available for Public Comment: Notice of Proposed Rulemaking (NPRM) for FDAAA 801 and NIH Draft Reporting Policy for NIH-Funded Trials
326 studies found for:    "Abnormalities, Multiple"
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Rank Status Study
1 Completed Genetic Analysis of Fraser Syndrome and Fryns Syndrome
Conditions: Fraser Syndrome;   Fryns Syndrome;   Chromosomal Abnormalities;   Abnormalities, Multiple
Intervention:
2 Unknown  Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Conditions: DiGeorge Syndrome;   Shprintzen Syndrome;   Chromosome Abnormalities;   Abnormalities, Multiple;   Conotruncal Cardiac Defects
Intervention:
3 Completed The Experience of Uncertainty in Parents of Children With an Undiagnosed Medical Condition
Condition: Multiple Abnormalities
Intervention:
4 Recruiting Whole Genome Medical Sequencing for Genome Discovery
Conditions: Multiple Congenital Anomaly Syndromes;   Congenital Disorders;   Inherited Diseases
Intervention:
5 Available Use Massive Parallel Sequencing and Exome Capture Technology to Sequence the Exome of Fanconi Anemia Children and Their Patents
Conditions: Fanconi Anemia;   Autosomal or Sex Linked Recessive Genetic Disease;   Bone Marrow Hematopoiesis Failure, Multiple Congenital Abnormalities, and Susceptibility to Neoplastic Diseases.;   Hematopoiesis Maintainance.
Interventions: Genetic: human whole exome;   Genetic: whole genomic
6 Recruiting Phenotype and Etiology of Pallister-Hall Syndrome
Conditions: Malformations;   Multiple Abnormalies;   Polydactyly
Intervention:
7 Recruiting Study of Proteus Syndrome and Related Congenital Disorders
Conditions: Growth Disorder;   Mental Retardation;   Multiple Abnormalies
Intervention:
8 Completed Celiprolol in Patients With Ehlers-Danlos Syndrome, Vascular Type
Conditions: EHLERS-DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT;   CHROMOSOME 2q31.2 DELETION SYNDROME
Interventions: Drug: celiprolol;   Drug: Control
9 Terminated Efficacy and Safety of Salkera Emollient Foam in the Treatment of Moderate to Severe Keratosis Pilaris, a Prospective Study
Condition: Keratosis Pilaris
Intervention: Drug: Salkera Emollient Foam
10 Recruiting French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Condition: Kabuki Syndrome
Intervention:
11 Completed
Has Results
Treatment of Keratosis Pilaris With 810 nm Diode Laser
Condition: Keratosis Pilaris (KP)
Intervention: Device: Diode Laser
12 Completed Assessment of the Prevalence of Genes AHI1, NPHP1 and CEP290 in Joubert Syndrome
Conditions: Joubert Syndrome;   Cerebello-oculo-renal Syndromes
Intervention: Biological: Whole blood sample
13 Recruiting Natural History and Genetic Studies of Usher Syndrome
Conditions: Retinitis Pigmentosa Syndromic;   Congenital Deafness;   Usher Syndrome;   Retinitis Pigmentosa and Deafness;   Progressive Hearing Loss;   Retinitis Pigmentosa
Intervention:
14 Unknown  Gut Derived Hormones, Body Composition and Metabolism in Prader-Willi Syndrome
Condition: Prader-Willi Syndrome
Intervention: Drug: Exenatide
15 Completed Correlation of Hyperghrelinemia With Carotid Artery Intima-Media Thickness in Children With Prader-Willi Syndrome
Conditions: Prader Willi Syndrome;   Obesity
Intervention:
16 Completed Rehabilitation of Children With Multiple Disabilities
Conditions: Cerebral Palsy;   Autism;   Down's Syndrome;   Brain Injury
Intervention: Other: CTN model of care for children and their families
17 Not yet recruiting Photodynamic Therapy Using Blue Light or Red Light in Treating Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome
Conditions: Basal Cell Carcinoma of the Skin;   Nevoid Basal Cell Carcinoma Syndrome
Interventions: Drug: aminolevulinic acid hydrochloride;   Drug: photodynamic therapy;   Other: laboratory biomarker analysis;   Other: questionnaire administration
18 Active, not recruiting Study to Evaluate the Efficacy and Safety of Minocycline in Angelman Syndrome
Condition: Angelman Syndrome
Interventions: Drug: MINOCYCLINE;   Drug: PLACEBO (for Minocycline)
19 Completed Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A
Condition: Hypohidrotic Ectodermal Dysplasia
Intervention:
20 Completed Topical Tazarotene in Treating Patients With Basal Cell Skin Cancer and Basal Cell Nevus Syndrome on the Chest and Back
Conditions: Neoplastic Syndrome;   Non-melanomatous Skin Cancer
Interventions: Drug: tazarotene;   Other: placebo

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Indicates status has not been verified in more than two years