322 studies found for:    "Abnormalities, Multiple"
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Rank Status Study
1 Unknown  Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Conditions: DiGeorge Syndrome;   Shprintzen Syndrome;   Chromosome Abnormalities;   Abnormalities, Multiple;   Conotruncal Cardiac Defects
Intervention:
2 Completed Genetic Analysis of Fraser Syndrome and Fryns Syndrome
Conditions: Fraser Syndrome;   Fryns Syndrome;   Chromosomal Abnormalities;   Abnormalities, Multiple
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 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
9 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
10 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
11 Recruiting French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Condition: Kabuki Syndrome
Intervention:
12 Completed
Has Results
Treatment of Keratosis Pilaris With 810 nm Diode Laser
Condition: Keratosis Pilaris (KP)
Intervention: Device: Diode Laser
13 Completed Study on Tolerability of Levodopa/Carbidopa in Children With Angelman Syndrome
Condition: Angelman Syndrome
Intervention: Drug: Levodopa/Carbidopa (4:1)
14 Terminated Infant Weight Gain With Trisomy 21 and CAVC
Condition: Congenital Disorders
Intervention:
15 Recruiting Double-Blind, Placebo Controlled, Phase 3 Trial of ZGN-440 (Beloranib) in Obese Subjects With Prader-Willi Syndrome
Conditions: Prader-Willi Syndrome;   Obesity
Interventions: Drug: ZGN-440 for Injectable Suspension;   Drug: ZGN-440 Placebo for Injectable Suspension
16 Completed Plasma Adiponectin Level and Sleep Structures in Children With Prader-Willi Syndrome
Conditions: Prader-Willi Syndrome;   Obesity
Intervention:
17 Completed Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes
Conditions: Williams Syndrome;   Angelman Syndrome;   Prader-Willi Syndrome;   Shprintzen Syndrome;   Smith-Magenis Syndrome;   DiGeorge Syndrome;   Chromosome Abnormalities
Intervention:
18 Recruiting Observational Study to Investigate the Melatonin and Cortisol Circadian Rhythms of Individuals With Smith-Magenis Syndrome (SMS)
Condition: Smith Magenis Syndrome
Intervention:
19 Unknown  Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
Conditions: DiGeorge Syndrome;   22q11.2 Deletion Syndrome
Intervention:
20 Active, not recruiting Evaluation of a Simplified Method for Diagnosis of Sleep Apnea in Children and Adults With Down Syndrome
Condition: Down Syndrome
Intervention: Other: Polysomnography

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Indicates status has not been verified in more than two years