Presentation
In this case, no family history of malformations was present. A chromosome aberration cannot be ruled out. Prevention - Kasznica Carlson Coppedge syndrome Cannot be prevented. [checkorphan.org]
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Entire Body System
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Anemia
Curly Hair-Ankyloblepharon-Nail Dysplasia Syndrome Cushing Syndrome Cutis Laxa-Marfanoid Syndrome Cutis Verticis Gyrata and Mental Deficiency Cyprus Facial Neuromusculoskeletal Syndrome Cystic Fibrosis with Helicobacter Pylori Gastritis, Megaloblastic Anemia [rgd.mcw.edu]
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Lymphedema
[…] syndrome Lowry Wood Syndrome Lubani Al Saleh Teebi Syndrome Lubinsky Syndrome Lubs Syndrome Lujan Fryns Syndrome LUNG DAMAGE, IMMUNODEFICIENCY AND CHROMOSOME BREAKAGE SYNDROME Luscan-Lumish syndrome Lutembacher's syndrome Lutz Richner Landolt Syndrome Lymphedema [rgd.mcw.edu]
Respiratoric
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Hypoventilation
[…] non-syndromic intellectual disability Nonkeratan-Sulfate-Excreting Morquio Syndrome nonprogressive cerebellar ataxia with mental retardation Noonan Like Syndrome Noonan syndrome Norman-Roberts syndrome Novak Syndrome O'Donnell Pappas Syndrome Obesity Hypoventilation [rgd.mcw.edu]
Cardiovascular
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Heart Murmur
If a heart murmur is present, other tests such as ECGs, X-rays and cardiac catheterization may be performed. Prognosis - Kasznica Carlson Coppedge syndrome The only case reported was stillborn. [checkorphan.org]
Psychiatrical
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Suggestibility
Diagnosis - Kasznica Carlson Coppedge syndrome Spina bifida can be diagnosed using a Maternal serum alpha-fetoprotein (MSAFP) test; abnormally high levels of AFP in the mother's blood suggest that the baby has a neural tube defect. [checkorphan.org]
Cephalin Lipidosis cerebellar ataxia, mental retardation and dysequlibrium syndrome Cerebellar Atrophy, Visual Impairment, and Psychomotor Retardation Cerebellar Hypoplasia with Endosteal Sclerosis Cerebellar Vermis Aplasia with Associated Features suggesting [rgd.mcw.edu]
Neurologic
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High Pain Threshold
PAIN THRESHOLD INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY INTELLECTUAL DEVELOPMENTAL DISORDER WITH NEUROPSYCHIATRIC FEATURES INTELLECTUAL [rgd.mcw.edu]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Treatment - Kasznica Carlson Coppedge syndrome Resources - Kasznica Carlson Coppedge syndrome [checkorphan.org]
Prognosis
Prognosis - Kasznica Carlson Coppedge syndrome The only case reported was stillborn. Treatment - Kasznica Carlson Coppedge syndrome Resources - Kasznica Carlson Coppedge syndrome [checkorphan.org]
Prevention
Prevention - Kasznica Carlson Coppedge syndrome Cannot be prevented. [checkorphan.org]