319 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 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
11 Recruiting French Kabuki Syndrome Network. Epidemiology, Management of Patients and Research by Array-CGH
Condition: Kabuki Syndrome
Intervention:
12 Completed Treatment of Keratosis Pilaris With 810 nm Diode Laser
Condition: Keratosis Pilaris (KP)
Intervention: Device: Diode Laser
13 Active, not recruiting Computerized Cognitive Skills Training for Adolescents With Velocardiofacial Syndrome
Condition: Velocardiofacial Syndrome
Intervention: Behavioral: Challenging Our Minds Program
14 Completed A Bicycle Training Intervention
Conditions: Autism Spectrum Disorder;   Down Syndrome
Intervention: Behavioral: Bicycle Training Intervention
15 Recruiting Specimen Collection From Pregnant Women at Increased Risk for Fetal Aneuploidy
Conditions: Down Syndrome;   Fetal Aneuploidy
Intervention:
16 Recruiting A Study of RG1662 in Adults and Adolescents With Down Syndrome (CLEMATIS)
Condition: Down Syndrome
Interventions: Drug: Placebo;   Drug: RG1662
17 Recruiting Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002
Condition: X-linked Hypohidrotic Ectodermal Dysplasia
Intervention: Drug: EDI200
18 Recruiting Characteristics of Prader-Willi Syndrome and Early-onset Morbid Obesity
Conditions: Prader-Willi Syndrome;   Obesity
Interventions: Other: Group 1;   Other: Group 2
19 Completed Sweat Duct Imaging in Mother/Newborn Dyads
Condition: X-Linked Hypohidrotic Ectodermal Dysplasia
Intervention:
20 Unknown  Natural History of Amyloid Deposition in Adults With Down Syndrome
Condition: Down Syndrome
Intervention:

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Indicates status has not been verified in more than two years