65 studies found for:    Open Studies | "Craniofacial Abnormalities"
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Rank Status Study
1 Recruiting 3D-Printed CPAP Masks for Children With Obstructive Sleep Apnea
Conditions: Sleep Apnea, Obstructive;   Craniofacial Abnormalities;   Pediatric Disorder
Intervention: Device: Personalized continuous positive airway pressure (CPAP) mask
2 Unknown  3D Imaging of Hard and Soft Tissue in Orthognathic Surgery
Conditions: Craniofacial Abnormalities;   Maxillofacial Abnormalities;   Cleft Lip;   Cleft Palate
Interventions: Procedure: 3D stereophotogrammetric imaging;   Procedure: 3D CT-imaging with cone-beam CT;   Procedure: Case report form
3 Recruiting Study of Resting and Exercising Body Functioning in Freeman-Sheldon Syndrome and Related Conditions
Conditions: Arthrogryposis;   Craniofacial Abnormalities
Interventions: Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels;   Procedure: Physiological Stress Test;   Other: Functional Enquiry Form;   Other: Strength, Joint ROM, Girth and Length Measurements;   Other: Study Physical Examination;   Other: Observational Gait Analysis;   Other: Mental Health Interview
4 Recruiting Survey Study and Records Review of Treatment Outcomes in Freeman-Sheldon Syndrome
Conditions: Arthrogryposis;   Craniofacial Abnormalities
Interventions: Other: STOP-FSS Survey;   Other: Medical Records Review
5 Unknown  FaceBase Biorepository
Conditions: Craniofacial Abnormalities;   Cleft Lip;   Cleft Palate
Intervention:
6 Recruiting Study of Quality of Life in Freeman-Sheldon Syndrome and Related Conditions
Conditions: Arthrogryposis;   Craniofacial Abnormalities;   Posttraumatic Stress Disorder;   Depressive Disorder
Interventions: Other: PTSD Checklist-Specific;   Other: Modified Flanagan Quality of Life Scale;   Other: Center for Epidemiologic Studies Depression Scale;   Other: Functional Enquiry Form;   Other: Strength, Joint ROM, Girth and Length Measurements;   Other: Study Physical Examination;   Other: PTSD, Depression, and FSS-Focused Examination;   Other: Freeman-Sheldon Specific Quality of Life Survey;   Other: Lactate, Glucose, and Adenosine Triphosphate Blood Levels
7 Not yet recruiting PREPL in Health and Disease
Conditions: Hypotonia-Cystinuria Syndrome;   Muscle Hypotonia;   Healthy Volunteers;   Dwarfism, Growth Hormone Deficiency;   Obesity;   Prader-Willi Syndrome
Interventions: Procedure: Blood draw;   Procedure: muscle biopsy
8 Recruiting Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of MEK162 in Noonan Syndrome Hypertrophic Cardiomyopathy
Condition: Cardiomegaly
Intervention: Drug: MEK162
9 Unknown  An Investigation for the Optimal Timing of a Cleft Palate Repair
Condition: Cleft Palate
Intervention: Procedure: Palatoplasty
10 Not yet recruiting Follow Ups of Parents With Infants With Cleft Lip and Palate
Conditions: Cleft Lip;   Cleft Palate
Intervention: Other: Cleft lip and palate
11 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
12 Recruiting Prenatal Screening for Imprinting Anomalies Implicated in Beckwith Wiedemann and Silver Russell Syndromes
Condition: Pregnant Women Requiring Amniocentesis
Intervention: Genetic: Methylation Index
13 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:
14 Not yet recruiting Cranial Orthotic Device Versus Repositioning Techniques for the Management of Plagiocephaly: the CRANIO Randomized Trial
Condition: Plagiocephaly
Interventions: Device: Helmet;   Behavioral: home therapies
15 Recruiting Effects of PTH Replacement on Bone in Hypoparathyroidism
Conditions: Hypoparathyroidism;   DiGeorge Syndrome
Intervention: Drug: PTH 1-34
16 Not yet recruiting Pierre Robin Sequence Outcome Assessment Multi Institutional Study
Condition: Pierre Robin Sequence
Intervention:
17 Recruiting Study of Smith-Lemli-Opitz Syndrome
Conditions: Abnormalities;   Inborn Errors of Metabolism;   Mental Retardation;   Muscle Hypotonia;   Smith Lemli Opitz Syndrome
Intervention:
18 Recruiting Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial
Condition: Craniosynostosis Patients Undergoing Distraction Osteotomy
Interventions: Drug: Tranexamic Acid;   Drug: normal saline
19 Recruiting Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
Conditions: Smith-Lemli-Opitz Syndrome;   Cone-Rod Dystrophy;   Hearing Loss
Interventions: Drug: Antioxidants;   Drug: Cholesterol
20 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:

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Indicates status has not been verified in more than two years