Cryptorchidism, and Patent ductus arteriosus

Diseases related with Cryptorchidism and Patent ductus arteriosus

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


Top matches:

High 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

Medium match HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME


HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME Is also known as ostravik-lindemann-solberg syndrome

Related symptoms:

  • Hypertelorism
  • Cryptorchidism
  • Abnormality of the skeletal system
  • Syndactyly
  • Patent ductus arteriosus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEART DEFECT-TONGUE HAMARTOMA-POLYSYNDACTYLY SYNDROME

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Other less relevant matches:

Medium match MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME


Multisystemic smooth muscle dysfunction syndrome is a rare, genetic, vascular disease characterized by congenital dysfunction of smooth muscle throughout the body, manifesting with cerebrovascular disease, aortic anomalies, intestinal hypoperistalsis, hypotonic bladder, and pulmonary hypertension. Congenital mid-dilated pupils non-reactive to light associated with a large, persistent patent ductus arteriosus are characteristic hallmarks of the disease.

MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME Is also known as mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy

Related symptoms:

  • Global developmental delay
  • Cryptorchidism
  • Hypertension
  • Hypoplasia of the corpus callosum
  • Edema


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME

Medium match GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF


Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about GROWTH RESTRICTION, SEVERE, WITH DISTINCTIVE FACIES; GRDF

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 MEIER-GORLIN SYNDROME 4; MGORS4


Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about MEIER-GORLIN SYNDROME 4; MGORS4

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 STANKIEWICZ-ISIDOR SYNDROME; STISS


Stankiewicz-Isidor syndrome (STISS) is a neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, behavioral disorders, mild craniofacial anomalies, and variable congenital defects of the cardiac and/or urogenital systems (summary by Kury et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about STANKIEWICZ-ISIDOR SYNDROME; STISS

Medium match COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME


COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME Is also known as chops syndrome|cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about COGNITIVE IMPAIRMENT-COARSE FACIES-HEART DEFECTS-OBESITY-PULMONARY INVOLVEMENT-SHORT STATURE-SKELETAL DYSPLASIA SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Patent ductus arteriosus

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Patent ductus arteriosus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Coarctation of aorta Retrognathia Hypoplastic left heart Low-set ears Tetralogy of Fallot Ventricular septal defect Hypertelorism Generalized hypotonia

Rare Symptoms - Less than 30% cases


Intestinal malrotation Abnormality of the skeletal system Pneumonia Abnormal cardiac septum morphology Aganglionic megacolon Postaxial hand polydactyly Hearing impairment Hypertension Failure to thrive Delayed skeletal maturation Abnormal lung morphology Anal atresia Abnormal vertebral morphology Hydronephrosis Motor delay Vesicoureteral reflux Hydrometrocolpos Hypospadias Brachydactyly Pulmonary arterial hypertension Micrognathia Horseshoe kidney Abnormal heart morphology Aortic valve stenosis Microcephaly Strabismus Abnormal lung lobation Cleft palate Ambiguous genitalia Polyhydramnios Apnea Aspiration pneumonia Laryngomalacia Aspiration Cyanosis Cognitive impairment Respiratory failure Bicuspid aortic valve Tracheoesophageal fistula Bilateral cryptorchidism Hydroureter Atrioventricular canal defect Ectrodactyly Long eyelashes Lateral clavicle hook Respiratory distress Thoracic scoliosis Intrauterine growth retardation Narrow mouth Microtia Hypoplasia of the maxilla Thick lower lip vermilion Emphysema Slender long bone Thick hair Birth length less than 3rd percentile Genu recurvatum Chronic lung disease Hypoplastic labia majora Patellar aplasia Labial hypoplasia Tracheal stenosis Breast hypoplasia Asplenia Single umbilical artery Hypoxemia Duodenal atresia Obesity Abnormality of the kidney Coarse facial features Gastroesophageal reflux Facial asymmetry Prominent nose Proptosis Short thumb Short nose Micropenis Cerebral visual impairment Horizontal nystagmus Absent thumb Shawl scrotum Optic atrophy Truncus arteriosus Pineal cyst Abnormal facial shape Autism Behavioral abnormality Volvulus Absent gallbladder Cataract Pulmonary insufficiency Round face Downturned corners of mouth Ureteropelvic junction obstruction Duodenal stenosis Accessory spleen Meckel diverticulum Annular pancreas Visual impairment Thick eyebrow Right-to-left shunt Pulmonary valve atresia Abnormality of the pulmonary vasculature Abnormality of the pulmonary veins Seizures Scoliosis Delayed speech and language development Nystagmus Pterygium Glandular hypospadias Cutaneous syndactyly Abnormality of the fallopian tube Septate vagina Pulmonary sequestration Syndactyly Polydactyly Toe syndactyly Postaxial polydactyly Hand polydactyly Conotruncal defect Broad hallux Cutaneous finger syndactyly Subvalvular aortic stenosis Complete atrioventricular canal defect Common atrium Hamartoma of tongue Duplication of phalanx of hallux Benign neoplasm of the central nervous system Crossed fused renal ectopia Diffuse mesangial sclerosis Imperforate hymen Abnormality of the genital system Abnormality of the dentition Autistic behavior Hypermetropia Thin vermilion border Neoplasm Hernia Hypoplasia of penis Congenital diaphragmatic hernia Situs inversus totalis Aplasia of the uterus Nephroblastoma Transposition of the great arteries Aplasia/Hypoplasia of the lungs Sex reversal Abnormality of the spleen Vaginal atresia Anomalous pulmonary venous return Abnormal vagina morphology 2-3 finger syndactyly Cor triatriatum Urethral stricture Penoscrotal hypospadias Small hand Triangular face Decreased body weight Finger clinodactyly Relative macrocephaly Melanocytic nevus Unilateral cryptorchidism High palate Prominent forehead Finger syndactyly Multicystic kidney dysplasia Renal hypoplasia/aplasia Abnormality of the metacarpal bones Tarsal synostosis Postaxial foot polydactyly Ectopic anus Urogenital sinus anomaly Feeding difficulties in infancy Frontal bossing Hypoplasia of the corpus callosum Abnormality of the vasculature Edema Dilatation Stroke Abnormality of the cerebral white matter Asthma Tachypnea Cholelithiasis Dilatation of the cerebral artery Colpocephaly Macrocephaly Thoracic aortic aneurysm Mydriasis Hypoperistalsis Periventricular white matter hyperdensities Cystic lung disease Retinal infarction Hyperperistalsis Flexion contracture Recurrent aspiration pneumonia



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