Presentation
For example, a thorough cardiac evaluation may be advised to detect any heart abnormalities that may be present. [rarediseases.org]
261112 Synonym(s): 9p deletion syndrome 9p- syndrome Alfi syndrome Prevalence: - Inheritance: - Age of onset: Antenatal, Neonatal ICD-10: Q93.5 OMIM: 158170 UMLS: C0265425 C0795830 MeSH: - GARD: 3773 MedDRA: - The documents contained in this web site are presented [orpha.net]
Entire Body System
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Surgical Procedure
The specific surgical procedures performed will depend upon the nature and severity of the anatomical abnormalities, their associated symptoms, and other factors. [rarediseases.org]
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Inguinal Hernia
In addition, in some affected infants, there may be protrusion (herniation) of a portion of the intestine into the canal that passes through lower muscular layers of the abdominal wall (inguinal hernia). [rarediseases.org]
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Asymptomatic
Some individuals may show no apparent symptoms (asymptomatic), while others may develop difficulties feeding, shortness of breath, profuse sweating, irritability, easy fatigability, bluish discoloration of the skin and mucous membranes (cyanosis), and [rarediseases.org]
Cardiovascular
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Heart Disease
In severe cases, congenital heart disease may lead to potentially life-threatening complications. In some individuals with the disorder, Chromosome 9, Partial Monosomy 9p may also be characterized by genital defects. [rarediseases.org]
\u2013 1963: Associated non cardiac malfor- mations in children with congenital heart disease. J. Pediat. 63: 468. 82. NORWOOD, T.H.; Hoehn, H. \u2013 1974: Trisomy of the long arm of hu- man chromosome 1. Humangenetik., 25: 79-82. 83. [passeidireto.com]
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Cyanosis
Some individuals may show no apparent symptoms (asymptomatic), while others may develop difficulties feeding, shortness of breath, profuse sweating, irritability, easy fatigability, bluish discoloration of the skin and mucous membranes (cyanosis), and [rarediseases.org]
Skin
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Sweating
Some individuals may show no apparent symptoms (asymptomatic), while others may develop difficulties feeding, shortness of breath, profuse sweating, irritability, easy fatigability, bluish discoloration of the skin and mucous membranes (cyanosis), and [rarediseases.org]
Face, Head & Neck
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Hypertelorism
Additional characteristic craniofacial malformations may include widely spaced eyes (ocular hypertelorism); upwardly slanting eyelid folds (palpebral fissures); vertical skin folds that may cover the eyes’ inner corners (epicanthal folds); and/or highly [rarediseases.org]
Breast
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Widely Spaced Nipples
Such abnormalities have included sudden episodes of uncontrolled electrical activity in the brain (seizures), widely spaced nipples, abnormal curvature of the spine, and/or, more rarely, incomplete closure (clefting) of the palate (cleft palate), bony [rarediseases.org]
Psychiatrical
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Suggestibility
Diagnosis In some instances, Chromosome 9, Partial Monosomy 9p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). [rarediseases.org]
Neurologic
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Irritability
Some individuals may show no apparent symptoms (asymptomatic), while others may develop difficulties feeding, shortness of breath, profuse sweating, irritability, easy fatigability, bluish discoloration of the skin and mucous membranes (cyanosis), and [rarediseases.org]
Treatment
Standard Therapies Treatment The treatment of Chromosome 9, Partial Monosomy 9p is directed towards the specific symptoms that are apparent in each individual. [rarediseases.org]
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]
In the other half, one parent is found to have the same deletion (possibly with no features) or a balanced translocation (which usually does not cause any features). [1] Treatment for chromosome 9p deletion is based on the signs and symptoms in each person [rarediseases.info.nih.gov]
Prevention
For individuals affected by seizures, treatment may include the administration of anticonvulsant medications to help prevent, reduce, or control seizure episodes. [rarediseases.org]