Cryptorchidism, and Hydronephrosis

Diseases related with Cryptorchidism and Hydronephrosis

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


Top matches:

High match OCHOA SYNDROME


Ochoa syndrome is characterized by the association of severe voiding dysfunction and a characteristic facial expression.

OCHOA SYNDROME Is also known as partial facial palsy with urinary abnormalities|inverted smile-neurogenic bladder syndrome|urofacial syndrome|hydronephrosis-inverted smile syndrome

Related symptoms:

  • Cryptorchidism
  • Hypertension
  • Renal insufficiency
  • Constipation
  • Hydronephrosis


SOURCES: ORPHANET MENDELIAN

More info about OCHOA SYNDROME

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 UROFACIAL SYNDROME 1; UFS1


The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

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Other less relevant matches:

High match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13


Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Buysse et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3gnt1-related

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Cryptorchidism
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13; MDDGA13

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

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 WEBB-DATTANI SYNDROME; WEDAS


Webb-Dattani syndrome is an autosomal recessive disorder characterized by frontotemporal hypoplasia, globally delayed development, and pituitary and hypothalamic insufficiency due to hypoplastic development of these brain regions. Patients present soon after birth with multiple pituitary hormonal deficiencies and subsequently develop microcephaly, seizures, and spasticity. Other features include postretinal blindness and renal abnormalities (summary by Webb et al., 2013).

WEBB-DATTANI SYNDROME; WEDAS Is also known as hypothalamo-pituitary-frontotemporal hypoplasia with visual and renal anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about WEBB-DATTANI SYNDROME; WEDAS

High match IMAGE SYNDROME


IMAGe syndrome is characterized by the association of Intrauterine growth retardation, Metaphyseal dysplasia (and short limbs), Adrenal hypoplasia congenita, and Genital anomalies. It has been described in less than 20 cases. The patients also present with dysmorphic features (frontal bossing, broad nasal bridge, low-set ears). In boys, genital anomalies include bilateral cryptorchidism, hypospadias, micropenis, and hypogonadotropic hypogonadism. This syndrome is likely to be transmitted as an autosomal recessive trait.

IMAGE SYNDROME Is also known as intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome|image syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about IMAGE SYNDROME

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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Hydronephrosis

Symptoms // Phenotype % cases
Anal atresia Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Micropenis Uncommon - Between 30% and 50% cases
Vesicoureteral reflux Uncommon - Between 30% and 50% cases
Hydroureter Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect Atrial septal defect Bilateral cryptorchidism Hypospadias Tracheoesophageal fistula Hypertension Aganglionic megacolon Renal insufficiency Tetralogy of Fallot

Rare Symptoms - Less than 30% cases


Seizures Spasticity Hypoplasia of the corpus callosum Blindness Hypoplastic left heart Muscular dystrophy Hydrometrocolpos Depressed nasal bridge Postaxial hand polydactyly Urogenital sinus anomaly Short nose Abnormal vertebral morphology Growth hormone deficiency Pulmonary hypoplasia Patent ductus arteriosus Cleft palate Prominent forehead Growth delay Neurogenic bladder Respiratory distress Urinary incontinence Urethral obstruction Renal cyst Stage 5 chronic kidney disease Short stature Constipation Cystic renal dysplasia Abnormal facial shape Abnormality of cardiovascular system morphology Recurrent urinary tract infections Polydipsia Abnormality of the pulmonary veins Amenorrhea Abnormality of the pulmonary vasculature Pulmonary valve atresia Right-to-left shunt Prominent scrotal raphe Annular pancreas Microcephaly Gastroesophageal reflux Mesoaxial hand polydactyly Hypothyroidism Retrognathia Hypoglycemia Deeply set eye Hip dislocation Severe global developmental delay Delayed myelination Absent gallbladder Ureteropelvic junction obstruction Meckel diverticulum Atrioventricular canal defect Respiratory failure Polyhydramnios Apnea Intestinal malrotation Cyanosis Pulmonary arterial hypertension Pelvic mass Aortic valve stenosis Bicuspid aortic valve Ectrodactyly Accessory spleen Abnormal lung lobation Vesicovaginal fistula Single umbilical artery Asplenia Duodenal atresia Volvulus Hypoxemia Pulmonary insufficiency Penoscrotal hypospadias Duodenal stenosis Transverse vaginal septum Chordee Postnatal microcephaly Primary adrenal insufficiency Nephrocalcinosis Congenital hip dislocation Short long bone Hydrops fetalis Lymphedema Hypercalciuria Hypercalcemia Epiphyseal dysplasia Adrenal insufficiency Metaphyseal dysplasia Adrenal hypoplasia Hypocalcemia Metaphyseal cupping Congenital adrenal hypoplasia Abnormality of the skeletal system Choanal atresia Edema Syndactyly Obesity Rod-cone dystrophy Polydactyly Primary amenorrhea Postaxial polydactyly Polycystic kidney dysplasia Esophageal atresia Abdominal distention Sensorineural hearing impairment Vaginal atresia Rectovaginal fistula Nonimmune hydrops fetalis Cerebral palsy Diabetes insipidus Pituitary hypothyroidism Central hypothyroidism Hypernatremia Hearing impairment Scoliosis Muscular hypotonia Abnormality of the genital system Low-set ears Intrauterine growth retardation Macrocephaly Frontal bossing Delayed skeletal maturation Postnatal growth retardation Respiratory tract infection Craniosynostosis Edema of the lower limbs Micromelia Bilateral sensorineural hearing impairment Hypogonadism Urethral atresia, male Glandular hypospadias Generalized hypotonia Urinary retention Pyelonephritis Facial grimacing Urethral stenosis Mild proteinuria Enuresis nocturna Urethral valve Encopresis Abnormal facial expression Nocturnal lagophthalmos Cognitive impairment Enuresis Hydrocephalus Elevated serum creatine phosphokinase Cerebellar hypoplasia Agenesis of corpus callosum Dandy-Walker malformation Decreased testicular size Encephalocele Heterotopia Renal dysplasia Opacification of the corneal stroma Wolff-Parkinson-White syndrome Dysuria Lissencephaly Rectal atresia Bowel incontinence Neoplasm Anemia Abnormal heart morphology Short thumb Bone marrow hypocellularity Hypoplasia of the radius External genital hypoplasia Absent thumb Chromosome breakage Pain Keratoconjunctivitis sicca Fever Dilatation Proteinuria Nephropathy Hematuria Sepsis Clubbing Keratitis Polyuria Acute kidney injury Severe muscular hypotonia Congenital muscular dystrophy Urethral stricture Urethral fistula Bilateral renal hypoplasia Anorectal anomaly Abnormality of the bladder Bilateral lung agenesis Unilateral renal hypoplasia Fetal pyelectasis Rectal fistula Incomplete male pseudohermaphroditism Cloacal abnormality Absent penis Intellectual disability Bilateral renal agenesis Failure to thrive High palate Brachydactyly Finger syndactyly Multicystic kidney dysplasia Renal hypoplasia/aplasia Abnormality of the metacarpal bones Tarsal synostosis Postaxial foot polydactyly Ectopic anus Atrophy of the spinal cord Ambiguous genitalia, male Hypoplasia of the brainstem Hypoplasia of penis Cortical dysplasia Absent septum pellucidum Occipital encephalocele Anencephaly Retinal dysplasia Type II lissencephaly Renal cortical cysts Optic nerve dysplasia Abnormality of metabolism/homeostasis Posteriorly rotated ears Ambiguous genitalia Perineal hypospadias Oligohydramnios Gynecomastia Abnormality of the hair Scrotal hypoplasia Abnormality of the voice Bifid scrotum Bilateral talipes equinovarus Decreased fertility Male pseudohermaphroditism Maternal diabetes Abnormality of the endocrine system Hydrocolpos



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