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Chromosome 18p deletion syndrome

A deletion of chromosome 18p region that manifests as autosomal dominant abnormalities characterized by INTELLECTUAL DISABILITY, growth retardation, craniofacial dysmorphism including round face which may lengthen with linear growth of the height of the face; dysplastic ears, wide mouth, dental anomalies, and abnormalities of the limbs, genitalia, brain, eyes, and heart also occur. OMIM: 146390
Also Known As:
18p deletion syndrome; 18p minus syndrome; 18p- syndrome; Del(18p) syndrome; Deletion 18p syndrome
Networked: 13 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1. Dystonia (Limb Dystonia)
2. Hypopigmentation (Hypomelanosis)
3. IgA Deficiency
4. Thyroid Diseases (Thyroid Disease)
5. Retinal Detachment (Retinal Detachments)

Experts

1. Ju, Duan: 1 article (02/2021)
2. Li, Xiaozhou: 1 article (02/2021)
3. Shi, Yunfang: 1 article (02/2021)
4. Xue, Fengxia: 1 article (02/2021)
5. Zhang, Ying: 1 article (02/2021)
6. Zuo, Zhigang: 1 article (02/2021)
7. Cho, Sung Yoon: 1 article (03/2019)
8. Colebatch, James G: 1 article (03/2019)
9. Colley, Alison: 1 article (03/2019)
10. Duma, Stephen R: 1 article (03/2019)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Chromosome 18p deletion syndrome:
1. Growth Hormone (Somatotropin)IBA
2. dichlorobis(azomycin)platinum IIIBA
3. Pneumococcal Vaccines (Pneumococcal Polysaccharide Vaccine)IBA
4. Polysaccharides (Glycans)IBA
5. Immunoglobulin A (IgA)IBA
6. Genetic Markers (Genetic Marker)IBA
7. DNA (Deoxyribonucleic Acid)IBA
8. Adrenocorticotropic Hormone (ACTH)FDA Link
9. T-18 (T 18)IBA

Therapies and Procedures

1. Deep Brain Stimulation
2. Blepharoplasty
3. Traction
4. Therapeutics