Abnormality of the skeletal system, and Tetralogy of Fallot

Diseases related with Abnormality of the skeletal system and Tetralogy of Fallot

In the following list you will find some of the most common rare diseases related to Abnormality of the skeletal system and Tetralogy of Fallot that can help you solving undiagnosed cases.


Top matches:

Low match CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4; CHTD4


Related symptoms:

  • Ventricular septal defect
  • Tetralogy of Fallot
  • Coarctation of aorta
  • Aortic valve stenosis
  • Hypoplastic left heart


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 4; CHTD4

Low match CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5; CHTD5


Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Dilated cardiomyopathy
  • Tetralogy of Fallot
  • Atrial fibrillation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5; CHTD5

Low match PARTIAL ATRIOVENTRICULAR CANAL


Partial atrioventricular canal (PAVC) is a congenital heart malformation characterized by an atrial septal defect (ASD; ostium primum), clefts of mitral and occasionally tricuspid valves, two separate atrioventricular (AV) valve annuli and an intact ventricular septum. The typical symptoms of PAVC are impaired exercise capacity and exertional dyspnea.

PARTIAL ATRIOVENTRICULAR CANAL Is also known as pavc|asd|partial atrioventricular canal defect

Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Dilatation
  • Abnormality of cardiovascular system morphology
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARTIAL ATRIOVENTRICULAR CANAL

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Other less relevant matches:

Low match CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6


Multiple types of congenital heart defects are associated with mutation in the GDF1 gene, including tetralogy of fallot (TOF), transposition of the great arteries (TGA), double-outlet right ventricle (DORV), total anomalous pulmonary venous return (TAPVR), pulmonary stenosis or atresia, atrioventricular canal, ventricular septal defect (VSD), and hypoplastic left or right ventricle (Jin et al., 2017).For a discussion of genetic heterogeneity of multiple types of congenital heart defects, see {306955}.

CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6 Is also known as transposition of the great arteries, dextro-looped 3, formerly|dtga3, formerly

Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Abnormality of cardiovascular system morphology
  • Hernia
  • Abnormal heart morphology


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6; CHTD6

Low match ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME


Atrial septal defect (ASD) with atrioventricular conduction defects is an extremely rare genetic congenital heart disease characterized by the presence of ASD, mostly of the ostium secundum type (see this term), associated with conduction anomalies like atrioventricular block, atrial fibrillation or right bundle branch block.

ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME Is also known as asd with or without atrioventricular conduction defects

Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Arrhythmia
  • Abnormal heart morphology
  • Abnormal cardiac septum morphology


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATRIAL SEPTAL DEFECT-ATRIOVENTRICULAR CONDUCTION DEFECTS SYNDROME

Low match CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2


Related symptoms:

  • Ventricular septal defect
  • Edema
  • Atrial septal defect
  • Congestive heart failure
  • Abnormal heart morphology


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE


Spondylometaphyseal dysplasia, 'corner fracture' type is a skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies).

SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE Is also known as spondylometaphyseal dysplasia, sutcliffe type

Related symptoms:

  • Short stature
  • Scoliosis
  • Gait disturbance
  • Kyphosis
  • Kyphoscoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE

Low match CONOTRUNCAL HEART MALFORMATIONS; CTHM


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hypertelorism
  • Cleft palate
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about CONOTRUNCAL HEART MALFORMATIONS; CTHM

Low match MEACHAM SYNDROME


Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations.

MEACHAM SYNDROME Is also known as rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome|meacham-winn-culler syndrome

Related symptoms:

  • Neoplasm
  • Cryptorchidism
  • Ventricular septal defect
  • Atrial septal defect
  • Hernia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEACHAM SYNDROME

Top 5 symptoms//phenotypes associated to Abnormality of the skeletal system and Tetralogy of Fallot

Symptoms // Phenotype % cases
Ventricular septal defect Common - Between 50% and 80% cases
Abnormal heart morphology Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Aortic valve stenosis Common - Between 50% and 80% cases
Pulmonary artery atresia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormality of the skeletal system and Tetralogy of Fallot. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Coarctation of aorta Subvalvular aortic stenosis Atrial fibrillation Bicuspid aortic valve Double outlet right ventricle Abnormality of cardiovascular system morphology Transposition of the great arteries Secundum atrial septal defect Hernia

Rare Symptoms - Less than 30% cases


Cryptorchidism Anomalous pulmonary venous return Pulmonic stenosis Ambiguous genitalia Abnormal cardiac septum morphology Complete atrioventricular canal defect Hypoplastic left heart Arrhythmia Postaxial polydactyly Nasal speech Bifid uvula Narrow mouth Short palpebral fissure Severe short stature Abnormality of metabolism/homeostasis Intellectual disability, mild Hypocalcemia Broad hallux Intellectual disability Depressed nasal bridge Cleft palate Hypertelorism Global developmental delay Hypoparathyroidism Hyperconvex vertebral body endplates Spondylometaphyseal dysplasia Ovoid vertebral bodies Abnormality of the wrist Beaking of vertebral bodies Hypoplasia of the odontoid process Short femoral neck Submucous cleft hard palate Situs inversus totalis Truncus arteriosus Sex reversal Septate vagina Abnormality of the fallopian tube Crossed fused renal ectopia Hydrometrocolpos Conotruncal defect Diffuse mesangial sclerosis Aplasia of the uterus Abnormal vagina morphology Vaginal atresia Abnormality of the spleen Aplasia/Hypoplasia of the lungs Maternal diabetes Abnormal lung lobation Nephroblastoma Horseshoe kidney Metaphyseal irregularity Abnormality of the genital system Congenital diaphragmatic hernia Hypoplasia of penis Patent ductus arteriosus Neoplasm Anomalous origin of one pulmonary artery from ascending aorta Aortopulmonary window Mild short stature Kyphoscoliosis Genu varum Pulmonary artery stenosis Heart block Bundle branch block Left ventricular hypertrophy Pulmonary arterial hypertension Ventricular hypertrophy Hypoplastic pulmonary veins Single ventricle Right aortic arch Total anomalous pulmonary venous return Heterotaxy Testicular dysgenesis Abnormality of cardiovascular system physiology Perineal hypospadias Microphallus Micropenis Hypospadias Tetralogy of Fallot with pulmonary atresia Atrial septal dilatation Second degree atrioventricular block Persistent left superior vena cava Dilatation Dilated cardiomyopathy Atrioventricular canal defect Abnormal atrioventricular conduction Tricuspid stenosis Short long bone Gait disturbance Coxa vara Waddling gait Recurrent fractures Micromelia Genu valgum Platyspondyly Hyperlordosis Pes planus Skeletal dysplasia Kyphosis Scoliosis Left-to-right shunt Short stature Myxomatous mitral valve degeneration Aortic aneurysm Aortic regurgitation Hydrops fetalis Mitral regurgitation Congestive heart failure Edema Double orifice mitral valve Atrioventricular dissociation Prolonged PR interval Pulmonary sequestration



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