104 studies found for:    "branchio-oculo-facial syndrome" OR "Craniofacial Abnormalities"
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Rank Status Study
21 Recruiting Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)
Conditions: Craniofacial Microsomia;   Hemifacial Microsomia;   Oculo-Auriculo-Vertebral-Syndrome;   Goldenhar Syndrome;   Microtia
Intervention:
22 Unknown  Examining Genetic Factors That Affect the Severity of 22q11.2 Deletion Syndrome
Conditions: DiGeorge Syndrome;   22q11.2 Deletion Syndrome
Intervention:
23 Recruiting Preoperative Antibiotics Study
Condition: Cleft Palates
Interventions: Drug: Unasyn;   Other: saline solution
24 Recruiting Early Treatment Outcomes in Pierre-Robin-Like Phenotype
Condition: Pierre Robin Syndrome
Intervention: Device: Pre-epiglottic baton plate (PEBP)
25 Recruiting Osteogenic Profiling of Tissue From Children With Craniosynostosis
Condition: Craniosynostosis
Intervention: Other: biopsy
26 Unknown  Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome
Conditions: DiGeorge Syndrome;   Shprintzen Syndrome;   Chromosome Abnormalities;   Abnormalities, Multiple;   Conotruncal Cardiac Defects
Intervention:
27 Recruiting Clinical and Molecular Investigations Into Ciliopathies
Conditions: Autosomal Recessive Polycystic Kidney Disease;   Congenital Hepatic Fibrosis;   Caroli's Disease;   Polycystic Kidney Disease;   Joubert Syndrome;   Cerebro-Oculo-Renal Syndromes;   COACH Syndrome;   Senior-Loken Syndrome;   Dekaban-Arima Syndrome;   Cogan Oculomotor Apraxia;   Nephronophthisis;   Bardet-Biedl Syndrome;   Alstrom Syndrome;   Oral-Facial-Digital Syndrome
Intervention:
28 Recruiting Changes Following the Treatment of Lower Jaw Protrusion Using Two Appliances
Condition: Class III Malocclusion in Growing Patients
Intervention: Device: Tandem Appliance
29 Recruiting Clinical and Genetic Studies on Holoprosencephaly
Condition: Holoprosencephaly
Intervention:
30 Unknown  The Psychiatric and Cognitive Phenotypes in Velocardiofacial Syndrome
Conditions: Velocardiofacial Syndrome;   Williams Syndrome;   Fragile X Syndrome
Intervention: Drug: methylphenidate, fluoxetin, risperidone
31 Completed
Has Results
Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemli-Opitz Syndrome
Intervention: Drug: Dietary cholesterol supplementation
32 Recruiting UAB HRFD Core Center: Core A: The Hepato/Renal Fibrocystic Diseases Translational Resource
Conditions: Hepato/Renal Fibrocystic Disease;   Autosomal Recessive Polycystic Kidney Disease;   Joubert Syndrome;   Bardet Biedl Syndrome;   Meckel-Gruber Syndrome;   Congenital Hepatic Fibrosis;   Caroli Syndrome;   Oro-Facial-Digital Syndrome Type I;   Nephronophthisis;   Glomerulocystic Kidney Disease
Intervention:
33 Completed Somatropin Effect on Linear Growth and Final Height in Subjects With Noonan Syndrome
Conditions: Genetic Disorder;   Noonan Syndrome
Intervention: Drug: somatropin
34 Recruiting MRI for Non-invasive Evaluation of Brain Stress
Condition: Craniosynostosis
Intervention: Other: MR scan
35 Completed Postural Assessment in Plagiocephaly
Condition: Plagiocephaly
Intervention: Other: Assessment
36 Recruiting Effects of PTH Replacement on Bone in Hypoparathyroidism
Conditions: Hypoparathyroidism;   DiGeorge Syndrome
Interventions: Drug: Parathyroid Hormone 1-34;   Drug: PTH 1-34
37 Completed Effect of MAXOMAT ® on the Growth of Small Children to NOONAN's Syndrome
Condition: Noonan Syndrome
Intervention: Drug: MAXOMAT ®, biosynthetic growth hormone
38 Withdrawn A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome
Condition: Smith-Lemi-Opitz Syndrome
Intervention:
39 Recruiting Immune Disorder HSCT Protocol
Conditions: Immune Deficiency Disorders:;   Severe Combined Immunodeficiency;   Chronic Granulomatous Disease;   X-linked Agammaglobulinemia;   Wiskott-Aldrich Syndrome;   Hyper-IgM;   DiGeorge Syndrome;   Chediak-Higashi Syndrome;   Common Variable Immune Deficiency;   Immune Dysregulatory Disorder:;   Hemophagocytic Lymphohistiocytosis;   IPEX;   Autoimmune Lymphoproliferative Syndrome;   X-linked Lymphoproliferative Syndrome
Intervention: Drug: Transplant preparative regimen of alemtuzumab, fludarabine, thiotepa, and melphalan
40 Recruiting Study of Smith-Lemli-Opitz Syndrome
Conditions: Abnormalities;   Inborn Errors of Metabolism;   Mental Retardation;   Muscle Hypotonia;   Smith Lemli Opitz Syndrome
Intervention:

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Indicates status has not been verified in more than two years