Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0017168 (gastroesophageal reflux disease)
 11,783 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Torticollis is a clinical symptom and sign characterized by a lateral head tilt and chin rotation toward the side opposite to the tilt. Many conditions cause torticollis. The differential diagnosis is different for infants than for children and adolescents. Congenital muscular torticollis associated with a contracture of the sternocleidomastoid muscle is the most common etiology of torticollis in infants. The condition of most infants with congenital muscular torticollis improves with a regimen of manual cervical stretching. Congenital anomalies of the occipital condyles and upper cervical spine must be ruled out before performing a release of the sternocleidomastoid muscle in a child who fails to improve with physical therapy. Unusual nonmuscular causes of torticollis in the infant also must be considered and include ocular torticollis caused by eye muscle weakness, Sandifer's syndrome resulting from gastroesophageal reflux, neural axis abnormalities, and benign paroxysmal torticollis. Torticollis in the older child is most frequently a manifestation of atlantoaxial rotatory displacement resulting from trauma or oropharyngeal inflammation (Grisel's syndrome). Retropharyngeal abscesses and pyogenic cervical spondylitis are unusual infectious causes of torticollis. Intermittent torticollis associated with headaches, vomiting, or neurologic symptoms may be caused by tumors of the posterior fossa. Benign and malignant neoplasms of the upper cervical spine are rare causes of torticollis in children. Torticollis resulting from cervical dystonia is also rare in children but may be seen in older adolescents.
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PMID:Torticollis in infants and children: common and unusual causes. 1695 98

Cornelia de Lange syndrome (CdLS; MIM #122470, 300590, 610759, 614701, 300882) is a rare and clinically variable disorder that affects multiple organs. It is characterized by intellectual disability (mild to severe), distinctive facial features, prenatal and postnatal growth retardation, and hirsutism. Congenital anomalies include malformations of the upper limbs, gastrointestinal malformation/rotation, pyloric stenosis, diaphragmatic hernia, heart defects and genitourinary malformations. Gastroesophageal reflux disease is present in almost all patients. In addition to classic forms, milder phenotypes have been reported. To date five genes [NIPBL (Nipped-B-like protein), SMC1A (structural maintenance of chromosomes 1A), SMC3 (structural maintenance of chromosomes 3), RAD21 (human homolog of Schizosaccharomyces pombe radiation sensitive mutant 21) and HDAC8 (histone deacetylase 8)] have been associated with CdLS and mutations of these genes comprise the underlying defect in 70% of the patients. Here, we will provide a brief review of the clinical features of CdLS, summarize the known underlying genetic defects, prenatal and postnatal diagnosis possibilities, and genetic counseling.
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PMID:Cornelia de Lange syndrome. 2580