Cryptorchidism, and Tetralogy of Fallot

Diseases related with Cryptorchidism and Tetralogy of Fallot

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


Top matches:

Medium match TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD


Related symptoms:

  • Cryptorchidism
  • Hernia
  • Hypospadias
  • Abnormal heart morphology
  • Micropenis


SOURCES: OMIM MENDELIAN

More info about TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE; TACHD

Medium match INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME


Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by borderline to severe intellectual disability, global development delay, feeding difficulties, microcephaly, short stature and mild facial dysmorphism, including thick eyebrows, long eyelashes, prominent incisors and/or thin upper lip. Other associated features may include hypermetropia with or without esotropia, behavioral anomallies (e.g. autistic behavior, sleeping disturbances), urogenital abnormalities (e.g. crytorchidism, inguinal hernia), single palmar crease, fifth-finger clinodactyly and cardiac defects (e.g. ASD, PDA).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about INTELLECTUAL DISABILITY-FEEDING DIFFICULTIES-DEVELOPMENTAL DELAY-MICROCEPHALY SYNDROME

Medium 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

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Other less relevant matches:

Medium match MCKUSICK-KAUFMAN SYNDROME


McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Medium match CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA


Congenital alveolar capillary dysplasia (ACD) is a rare and fatal developmental lung disease characterized by respiratory distress in neonates due to refractory hypoxemia and severe pulmonary arterial hypertension.

CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA Is also known as alveolar capillary dysplasia with misalignment of pulmonary vessels|acdmpv|alveolar capillary dysplasia with misalignment of pulmonary veins|alveolar capillary dysplasia with misalignment of pulmonary veins and other congenital anomalies

Related symptoms:

  • Cryptorchidism
  • Hypertension
  • Ventricular septal defect
  • Respiratory distress
  • Atrial septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL ALVEOLAR CAPILLARY DYSPLASIA

Medium match MCKUSICK-KAUFMAN SYNDROME; MKKS


McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome|kaufman-mckusick syndrome|hmcs|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

Related symptoms:

  • Cryptorchidism
  • Abnormality of the skeletal system
  • Respiratory distress
  • Edema
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME; MKKS

Medium match NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY


Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the HIBCH gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.

NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY Is also known as beta-hydroxyisobutyryl coa deacylase deficiency|valine metabolic defect|methacrylic aciduria|hibch deficiency|methacrylic acid toxicity

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NEURODEGENERATION DUE TO 3-HYDROXYISOBUTYRYL-COA HYDROLASE DEFICIENCY

Medium match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Medium match 1Q21.1 MICRODUPLICATION SYNDROME


1q21.1 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy with incomplete penetrance and variable expression characterized by macrocephaly, developmental delay, intellectual disability, psychiatric disturbances (autism spectrum disorder, attention deficit hyperactivity disorder, schizophrenia, mood disorders) and mild facial dysmorphism (high forehead, hypertelorism). Other associated features include congenital heart defects, hypotonia, short stature, scoliosis.

1Q21.1 MICRODUPLICATION SYNDROME Is also known as trisomy 1q21.1|dup(1)(q21.1)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1Q21.1 MICRODUPLICATION SYNDROME

Medium match KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION


KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|kleefstra syndrome due to 9q subtelomeric deletion|kleefstra syndrome due to monosomy 9q34|9qstds

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

Top 5 symptoms//phenotypes associated to Cryptorchidism and Tetralogy of Fallot

Symptoms // Phenotype % cases
Global developmental delay Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Patent ductus arteriosus Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Tetralogy of Fallot. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Respiratory distress Aganglionic megacolon Anal atresia Hydronephrosis Seizures Muscular hypotonia Hydrometrocolpos Hypoplastic left heart Aortic valve stenosis Coarctation of aorta Failure to thrive Abnormal vertebral morphology Abnormal heart morphology Generalized hypotonia Hypospadias Feeding difficulties Strabismus Microcephaly Short stature

Rare Symptoms - Less than 30% cases


Brachydactyly Hernia Postaxial hand polydactyly Ambiguous genitalia Abnormal cardiac septum morphology Micropenis Specific learning disability Tracheoesophageal fistula Vesicoureteral reflux Cyanosis Anxiety Hydroureter Autism Obesity Abnormality of cardiovascular system morphology Hypertelorism Pulmonary valve atresia Ventriculomegaly Behavioral abnormality Conotruncal defect Agenesis of corpus callosum Autistic behavior Thin vermilion border Cleft palate Hypoplasia of penis Growth delay Abnormal lung lobation Edema Vaginal atresia Hypertonia Progressive encephalopathy Decreased activity of the pyruvate dehydrogenase complex Acute encephalopathy Titubation Hyperventilation Proptosis Double outlet right ventricle Truncus arteriosus Right ventricular hypertrophy Pulmonary artery atresia Underdeveloped supraorbital ridges Breathing dysregulation Interrupted aortic arch Right ventricular failure Abnormal nasal morphology Recurrent respiratory infections Abnormality of the vertebral column Endocarditis Clinodactyly of the 5th finger Poor appetite Polycythemia Respiratory tract infection Ventricular hypertrophy Paralysis Intrauterine growth retardation Congestive heart failure Overriding aorta Anemia Broad forehead Dolichocephaly Pulmonic stenosis Hemiparesis Encephalomalacia Sinusitis Increased body weight Easy fatigability Clinodactyly Muscle weakness Clubbing Arrhythmia Dyspnea Preauricular pit Heart murmur Echolalia Tetralogy of Fallot with absent pulmonary valve Sleep disturbance Subcortical cerebral atrophy Inguinal hernia Femoral hernia Brachycephaly Abnormality of the testis Cerebral cortical atrophy Irritability Synophrys Downturned corners of mouth Everted lower lip vermilion Highly arched eyebrow Macroglossia Midface retrusion Status epilepticus Absence seizures Aortic regurgitation Mutism Apathy Flat occiput Aphasia Dysphasia Absent septum pellucidum Protruding tongue Epileptic spasms Depressivity Renal insufficiency Absence of the pulmonary valve Gastroesophageal reflux Scoliosis Cataract Spasticity Macrocephaly Frontal bossing Talipes equinovarus Hypoplasia of the corpus callosum Hydrocephalus Intellectual disability, mild Hyperactivity Glaucoma Intellectual disability, moderate Short nose Truncal ataxia Attention deficit hyperactivity disorder Hip dislocation Arthrogryposis multiplex congenita Hip dysplasia Hallucinations Schizophrenia Relative macrocephaly Constrictive median neuropathy Hearing impairment Anteverted nares Aminoaciduria Abnormal facial shape Spastic tetraplegia Apnea Abnormality of the metacarpal bones Tarsal synostosis Postaxial foot polydactyly Ectopic anus Urogenital sinus anomaly Urethral stricture Glandular hypospadias Hypertension Respiratory failure Polyhydramnios Intestinal malrotation Multicystic kidney dysplasia Pulmonary arterial hypertension Bicuspid aortic valve Bilateral cryptorchidism Atrioventricular canal defect Ectrodactyly Single umbilical artery Asplenia Duodenal atresia Volvulus Hypoxemia Pulmonary insufficiency Renal hypoplasia/aplasia Finger syndactyly Duodenal stenosis Nephroblastoma Microphallus Perineal hypospadias Testicular dysgenesis Abnormality of the dentition Hypermetropia Neoplasm Congenital diaphragmatic hernia Abnormality of the genital system Situs inversus totalis Horseshoe kidney Transposition of the great arteries High palate Aplasia/Hypoplasia of the lungs Sex reversal Abnormality of the spleen Anomalous pulmonary venous return Abnormal vagina morphology Aplasia of the uterus Diffuse mesangial sclerosis Crossed fused renal ectopia Abnormality of the fallopian tube Septate vagina Pulmonary sequestration Ureteropelvic junction obstruction Accessory spleen Aciduria Dystonia Vesicovaginal fistula Pelvic mass Hydrocolpos Ataxia Nystagmus Epicanthus Hyperreflexia Optic atrophy Blindness Vomiting Cerebral atrophy Mesoaxial hand polydactyly Encephalopathy Myoclonus Acidosis Muscular hypotonia of the trunk Developmental regression Lethargy Dysmetria Neurodegeneration Metabolic acidosis Tetraplegia Increased serum lactate Prominent scrotal raphe Transverse vaginal septum Meckel diverticulum Abdominal distention Absent gallbladder Annular pancreas Right-to-left shunt Abnormality of the pulmonary vasculature Abnormality of the pulmonary veins Abnormality of the skeletal system Syndactyly Rod-cone dystrophy Polydactyly Pulmonary hypoplasia Postaxial polydactyly Amenorrhea Penoscrotal hypospadias Primary amenorrhea Choanal atresia Lymphedema Hydrops fetalis Congenital hip dislocation Polycystic kidney dysplasia Esophageal atresia Edema of the lower limbs Nonimmune hydrops fetalis Rectovaginal fistula Chordee Cerebral cortical hemiatrophy



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