Cryptorchidism, and Anal atresia

Diseases related with Cryptorchidism and Anal atresia

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


Top matches:

High match EXSTROPHY OF BLADDER


Bladder exstrophy and epispadias complex (BEEC) is an anterior midline defect with variable expression involving the infraumbilical abdominal wall including the pelvis, urinary tract, and external genitalia (Gearhart and Jeffs, 1998). BEEC is one of the most severe urologic birth defects because of its profound impact on continence, sexual function, and morbidity due to the effect of chronic and recurrent infections on renal function. The term 'exstrophy,' derived from the Greek work ekstriphein, which literally means 'turn inside out,' was first used by Chaussier in 1780.Martinez-Frias et al. (2001) emphasized that exstrophy of the cloaca and exstrophy of the bladder are 2 different expressions of a primary developmental field defect. Cloacal exstrophy is a feature of the OEIS (omphalocele-exstrophy-imperforate anus-spinal defects) complex (OMIM ). Exstrophy of the cloaca includes the persistence and exstrophy of a common cloaca that receives ureters, ileum, and a rudimentary hindgut and is associated with failure of fusion of the genital tubercles and pubic rami, incomplete development of the lumbosacral vertebrae with spinal dysraphism, imperforate anus, cryptorchidism and epispadias in males and anomalies of the mullerian duct derivatives in females, and a wide range of urinary tract anomalies. Omphalocele is common, and most patients have a single umbilical artery.

Related symptoms:

  • Cryptorchidism
  • Recurrent infections
  • Inguinal hernia
  • Umbilical hernia
  • Anal atresia


SOURCES: OMIM ORPHANET MENDELIAN

More info about EXSTROPHY OF BLADDER

High match FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Short stature
  • Neoplasm
  • Cryptorchidism
  • Anemia
  • Renal insufficiency


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO

High match PENILE AGENESIS


Penile agenesis is a rare urogenital tract malformation characterized by complete congenital absence of the phallus. It is usually accompanied by a well-developed scrotum and presence of a skin tag at the anal verge (with or without a urethral meatal opening within it). Often, other genitourinary (e.g. cryptorchidism, renal agenesis and dysplasia, urinary reflux, prostate agenesis) as well as non-genitourinary abnormalities (including skeletal and neural disorders, anal stenosis, imperforate anus, cardiac defects) are associated.

PENILE AGENESIS Is also known as penis agenesis|aphallia|familial incomplete male pseudohermaphroditism, type 2|male pseudohermaphroditism due to 5-alpha-reductase deficiency

Related symptoms:

  • Cryptorchidism
  • Depressed nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PENILE AGENESIS

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Other less relevant matches:

High 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

High 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

High match SWEENEY-COX SYNDROME; SWCOS


Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SWEENEY-COX SYNDROME; SWCOS

High 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

High match CAUDAL REGRESSION SEQUENCE


Caudal regression sequence is a rare congenital malformation of the lower spinal segments associated with aplasia or hypoplasia of the sacrum and lumbar spine.

CAUDAL REGRESSION SEQUENCE Is also known as sacral agenesis syndrome|caudal dysplasia|sacral regression syndrome

Related symptoms:

  • Scoliosis
  • Cryptorchidism
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


SOURCES: ORPHANET MENDELIAN

More info about CAUDAL REGRESSION SEQUENCE

High match TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME


Tetraamelia - multiple malformations is an extremely rare mostly lethal congenital disorder characterized by absence of all four limbs and frequent associated major malformations involving the head, face, eyes, skeleton, heart, lungs, anus, urogenital, and central nervous systems. The syndrome has been described in fewer than 20 patients mainly of middle Eastern descent.

TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME Is also known as zimmer phocomelia

Related symptoms:

  • Micrognathia
  • Cataract
  • Cryptorchidism
  • Optic atrophy
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about TETRAAMELIA-MULTIPLE MALFORMATIONS SYNDROME

High match THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations|beaulieu-boycott-innes syndrome|bbis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Anal atresia

Symptoms // Phenotype % cases
Hydronephrosis Uncommon - Between 30% and 50% cases
Hydroureter Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Aganglionic megacolon Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cryptorchidism and Anal atresia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of cardiovascular system morphology Tetralogy of Fallot Patent ductus arteriosus Tracheoesophageal fistula Cleft palate Global developmental delay Vesicoureteral reflux Pulmonary hypoplasia

Rare Symptoms - Less than 30% cases


Asplenia Ambiguous genitalia Postaxial hand polydactyly Micropenis Abnormal lung lobation Hypospadias Oral cleft Multicystic kidney dysplasia Bilateral talipes equinovarus Urogenital sinus anomaly Maternal diabetes Vaginal atresia Abnormal vertebral morphology Polyhydramnios Cystic renal dysplasia Choanal atresia Hypertension Missing ribs Hydrometrocolpos Intellectual disability High palate Hypoplastic left heart Respiratory distress Renal agenesis Bilateral cryptorchidism Abnormal heart morphology Single umbilical artery Syndactyly Microtia Talipes equinovarus Velopharyngeal insufficiency Short stature Bowel incontinence Unilateral renal agenesis Abnormality of pelvic girdle bone morphology Renal insufficiency Narrow mouth Horseshoe kidney Intestinal malrotation Micrognathia Recurrent urinary tract infections Hearing impairment Abnormal facial shape Hypoplasia of penis Prominent scrotal raphe Short clavicles Prominent metopic ridge Cutaneous syndactyly Vesicovaginal fistula Cupped ear Overfolded helix Pelvic mass Hydrocolpos Long fingers Mesoaxial hand polydactyly Joint stiffness Scoliosis Chordee Transverse vaginal septum Hydrops fetalis Rod-cone dystrophy Polydactyly Edema Postaxial polydactyly Abdominal distention Abnormality of the skeletal system Primary amenorrhea Lymphedema Upper eyelid coloboma Congenital hip dislocation Penoscrotal hypospadias Polycystic kidney dysplasia Esophageal atresia Edema of the lower limbs Median cleft palate Nonimmune hydrops fetalis Rectovaginal fistula Widow's peak Obesity Short columella Broad neck Amenorrhea Hypoplastic vertebral bodies Reduced tendon reflexes Dental malocclusion Abnormality of the dentition Intellectual disability, mild Upslanted palpebral fissure High forehead Retrognathia Deeply set eye Camptodactyly Blepharophimosis Abnormal cardiac septum morphology Broad forehead Carious teeth Short palpebral fissure Epicanthus Pointed chin Premature ovarian insufficiency Overlapping toe Long nose Low hanging columella Mild microcephaly High anterior hairline Perimembranous ventricular septal defect Endometriosis Left-to-right shunt Muscular ventricular septal defect Myopia Microcephaly Arnold-Chiari malformation Hydrocephalus Impulsivity Ectopic kidney Decreased muscle mass Abnormality of the ureter Ureteral duplication Arrhinencephaly Abnormal vertebral segmentation and fusion Aplasia/Hypoplasia of the sacrum Abnormality of the wing of the ilium Cataract Optic atrophy Microphthalmia Aplasia/Hypoplasia involving the pelvis Agenesis of corpus callosum Iris coloboma Microcornea Abnormality of the ribs Aplasia/Hypoplasia of the lungs Tracheal stenosis Abnormality of the larynx Aplasia/Hypoplasia of the nipples Abnormally ossified vertebrae Septo-optic dysplasia Aplasia/Hypoplasia involving the nose Tetraamelia Generalized hirsutism Annular pancreas Wide anterior fontanel Decreased fertility Short nose Abnormality of metabolism/homeostasis Posteriorly rotated ears Oligohydramnios Gynecomastia Abnormality of the hair Scrotal hypoplasia Abnormality of the voice Bifid scrotum Male pseudohermaphroditism Rectal atresia Abnormality of the endocrine system Perineal hypospadias Ambiguous genitalia, male Bilateral renal agenesis Atrophy of the spinal cord Bilateral renal hypoplasia Anorectal anomaly Abnormality of the bladder Bilateral lung agenesis Unilateral renal hypoplasia Depressed nasal bridge Chromosome breakage Rectal fistula Exstrophy Inguinal hernia Umbilical hernia Omphalocele Abnormality of the urinary system Anteriorly placed anus Epispadias Spinal dysraphism Macrothrombocytopenia Bladder exstrophy Abnormality of the anus Abnormality of the clitoris Absent thumb Cloacal exstrophy Bifid clitoris Neoplasm Anemia Stage 5 chronic kidney disease Renal cyst Short thumb Bone marrow hypocellularity Hypoplasia of the radius External genital hypoplasia Fetal pyelectasis Incomplete male pseudohermaphroditism Underdeveloped nasal alae Low-set ears Duodenal stenosis Accessory spleen Meckel diverticulum Absent gallbladder Recurrent infections Right-to-left shunt Pulmonary valve atresia Abnormality of the pulmonary vasculature Abnormality of the pulmonary veins Hypertelorism Delayed speech and language development Pulmonary insufficiency Wide nasal bridge Midface retrusion Cerebellar hypoplasia Brachycephaly Gastroesophageal reflux Craniosynostosis Short philtrum Narrow chest Talipes Hirsutism Ureteropelvic junction obstruction Hypoxemia Cloacal abnormality Ectopic anus Absent penis Urethral atresia, male Urethral fistula Failure to thrive Brachydactyly Finger syndactyly Renal hypoplasia/aplasia Abnormality of the metacarpal bones Tarsal synostosis Postaxial foot polydactyly Urethral stricture Volvulus Glandular hypospadias Respiratory failure Apnea Cyanosis Pulmonary arterial hypertension Aortic valve stenosis Bicuspid aortic valve Atrioventricular canal defect Ectrodactyly Duodenal atresia Thin lower lip vermilion



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