“22q11 Deletion Syndromes”  

22q11 Deletions

    In our body, the craniofacial abnormality, 22q11 Deletion Syndrome is a chromosome 22 health challenge with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11 encompassing several syndromes with overlapping abnormalities including craniofacial abnormalities and lymphatic abnormalities.

22q11 Deletion Syndromes

    In our body, 22q11 Deletion Syndromes are associated with many multisystemic abnormalities including digeorge syndrome (hypoplasia of thymus and parathyroids), velocardiofacial syndrome, and hypoparathyroidism short stature mental retardation.
    Examples of conditions involving deletions of the chromosomal region 22q11:

• Catch 22 syndrome
• DiGeorge syndrome
• Phelan-McDermid Syndrome
• Shprintzen syndrome
• velocardiofacial syndrome
• Kousseff syndrome

_[15174]

“DiGeorge Syndrome (Hypoplasia of Thymus and Parathyroids)”  

Digeorge Syndrome

    In our body, the congenital hypoplasic dis-order, Digeorge Syndrome (Hypoplasia of Thymus and Parathyroids) is a health challenge, characterized by a wide spectrum of characteristics including the absence of the parathyroid glands (a parathyroid dis-order) and the thymus gland resulting in hypocalcemia, T-cell immunodeficiency, defects in the outflow tract of the heart, and craniofacial anomalies, associated with deletions of the chromosomal region 22q11.2.

_[19607]

“Alagille Syndrome (Alagille-Watson Syndrome)”  

Alagille-Watson Syndrome

    In our body, the congenital multiple system abnormality, Alagille-Watson Syndrome (Alagille Syndrome) is an autosomal dominant dis-order with a variable phenotype characterized by hepatic, eye, cardiac, and skeletal malformations and a characteristic facial appearance associated with a chromosome 20 health challenge with mutations within the JAG1 gene.

_[18983]

“Arrhythmogenic Right Ventricular Dysplasia”  

    In our body's heart, Arrhythmogenic Right Ventricular Dysplasia is the allopathic name of a dis-order, indicative to a specific set of signs, symptoms or other health indicators, associated with a health challenge.

_[12933]

“Barth Syndrome (Lethal Infantile Cardiomyopathy)”  

Barth Syndrome

    In our body, the multiple system abnormality, Barth Syndrome (Lethal Infantile Cardiomyopathy), aka Cardiomyopathy-Neutropenia Syndrome, is a mitochondrial dis-ease indicative to a specific set of signs, symptoms or other health indicators, associated with a lipid metabolism dis-order as a recessive x-linked genetic abnormality, marked by elevated levels of 3-methylglutaconic acid in the blood and urine.
    In our body, the symptoms of Barth Syndrome (Lethal Infantile Cardiomyopathy) include skeletal myopathy, cardiomyopathy, short stature, and neutropenia.

_[21238]

“Trilogy of Fallot”  

Fallot's Trilogy

    In our body's heart, the congenital heart defect, Trilogy of Fallot (Fallot's Trilogy) is indicative to a specific set of signs, symptoms or other health indicators, associated with a combination of defects consisting of three key features including atrial septal defects, pulmonary stenosis, and right ventricular hypertrophy.
    In our body's heart, the congenital heart defect, Trilogy of Fallot (Fallot's Trilogy) part of the Fallot Tetralogy is indicative to a specific set of signs, symptoms or other health indicators, associated with a combination of defects consisting of four key features including ventricular septal defect, pulmonary stenosis, right ventricular hypertrophy, and a dextro-positioned aorta.

_[19853]

“Ebstein's Anomaly (Ebstein's Malformation)”  

Ebstein Anomaly

    In our body's heart, the congenital heart defect, Ebstein's Anomaly (Ebstein's Malformation), characterized by downward or apical displacement of the tricuspid valve, usually with the septal and posterior leaflets being attached to the wall of the right ventricle of the heart.

_[19841]

“Isolated Noncompaction of the Ventricular Myocardium”  

Isolated Non-compaction of the Ventricular Myocardium

    In our body's heart, the congenital heart defect, Isolated Noncompaction of the Ventricular Myocardium is a rare cardiomyopathy heart dis-order, characterized by the lack of left ventricular myocardium compaction and other multiple system abnormalities.

_[21636]

“Hypoplastic Left Heart Syndrome”  

    In our body's heart, the congenital heart defect, Hypoplastic Left Heart Syndrome is single ventricle defect, indicative to a specific set of signs, symptoms or other health indicators, associated with an underdeveloped left side of the heart.

_[14418]

“Noonan syndrome”  

    In our body, the autosomal dominant genetic craniofacial abnormality of Noonan syndrome is a multifaceted growth dis-order indicative to a specific set of signs, symptoms or other health indicators, associated with a health challenge, typically caused by mutations in the PTPN11 gene although mutations of the SOS1, RAF1, KRAS, and BRAF genes have been implicated.
    In our body, Noonan Syndrome exhibits a constellation of findings including minor facial dysmorphism usually webbed neck and low-set ears, short stature, and congenital heart defects, most commonly pulmonic stenosis and hypertrophic cardiomyopathy

_[15827]

“Turner's Syndrome (Ullrich-Turner Syndrome)”  

Turner Syndrome

    In our body's heart, as a chromosomal dis-order, Turner syndrome, is a monosomy X condition in which all or part of one X chromosome is missing, including congenital heart defects (a heart dis-order) indicative to a specific set of signs, symptoms or other health indicators, associated with a health challenge.
    In our body, Turner syndrome is a type of sex chromosome dis-order of sex development with a classic triad of manifestations, first described in 1938 as webbed neck, cubitus valgus, and infantilism syndrome.

_[15493]

“Cor Triatriatum Sinistrum (Triatrial Heart)”  

Cor Triatriatum

    In our body's heart, the congenital heart dis-order, Cor Triatriatum is the allopathic name, indicative to a specific set of signs, symptoms or other health indicators, associated with a heart malformation health challenge.

_[17637]

“Eisenmenger Complex (Eisenmenger Syndrome)”  

Eisenmenger's Syndrome

    In our body, the congenital condition, Eisenmenger Syndrome is the allopathic name, indicative to a specific set of signs, symptoms or other health indicators, associated with a developmental abnormality, associated with a ventricular septal defect and other congenital heart defects, that allows the mixing of pulmonary and systemic circulation.

_[19842]

“Coarctation of the Aorta (Aortic Coarctation)”  

Aortic Coarctation

    In our body, Coarctation of the Aorta (Aortic Coarctation) is a congenital heart defect and a aortic arch defect, characterized by the narrowing of the aorta that can be of varying degree and at any point from the transverse arch to the iliac bifurcation
    Near our body's heart, the heart dis-order, Aortic Coarctation is defined as the narrowing of the descending aorta just below the origin of the left subclavian artery in a region called the isthmus, where the ductus arteriosus is connected by proximity, associated with a health challenge that may develop alone, or be associated with intracardiac anomalies, aortic arch hypoplasia, bicuspid aortic valve and ventricular septal defects.

_[12941]

“Multiple Lentigines Syndrome (LEOPARD Syndrome)”  

LEOPARD Syndrome (Multiple Lentigines Syndrome)

    In our body's heart, the autosomal dominant heart dis-order, Multiple Lentigines Syndrome (LEOPARD syndrome) is craniofacial abnormality indicative to a specific set of signs, symptoms or other health indicators, associated with a health challenge caused by mutations of PTPN11 gene encoding the non-receptor protein-tyrosine-phosphatase, type 11, and is an allelic to noonan syndrome.

L.E.O.P.A.R.D. Syndrome

    In our body, the heart dis-order, L.E.O.P.A.R.D. Syndrome is an acronym of its seven features (Lentigo, Electrocardiogram abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia|, Retardation of growth; and sensorineural hearing loss.

_[14678]

“Situs Inversus with Levocardia”  

Isolated Levocardia

    In our body, the heart dis-order, Isolated Levocardia, aka Situs Inversus with Levocardia, a congenital abnormality, in which the heart is in the normal position (levocardia) in the left side of the chest but some or all of the thorax or abdomen viscera are transposed laterally (situs inversus).

_[19308]

“Wolff-Parkinson-White Syndrome”  

    In our body's heart, the pathologic process of a heart dis-order, Wolff-Parkinson-White Syndrome is a pre-excitation syndrome indicative to a specific set of signs, symptoms or other health indicators, associated with a cardiac arrhythmia (dysrhythmia).

_[21842]