Cryptorchidism, and Urinary incontinence

Diseases related with Cryptorchidism and Urinary incontinence

In the following list you will find some of the most common rare diseases related to Cryptorchidism and Urinary incontinence 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 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

High match AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY


Autosomal dominant centronuclear myopathy (AD-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY Is also known as myotubular myopathy, autosomal dominant|ad-cnm|myopathy, centronuclear, autosomal dominant

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CENTRONUCLEAR MYOPATHY

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Other less relevant matches:

High match 1P31P32 MICRODELETION SYNDROME


1p31p32 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from the partial deletion of the short arm of chromosome 1, characterized by developmental delay, corpus callosum agenesis/hypoplasia and craniofacial dysmorphism, such as macrocephaly (caused by hydrocephalus or ventriculomegaly), low-set ears, anteverted nostrils and micrognathia. Urinary tract defects (e.g. vesicoureteral reflux, urinary incontinence) are also frequently associated. Other reported variable manifestations include hypotonia, tethered spinal cord, Chiari type I malformation and seizures.

1P31P32 MICRODELETION SYNDROME Is also known as monosomy 1p31p32|del(1)(p31p32)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about 1P31P32 MICRODELETION SYNDROME

High match LATERAL MENINGOCELE SYNDROME


Lateral meningocele syndrome is a rare disorder characterized by distinctive facial features, hyperextensibility, hypotonia, and characteristic lateral meningoceles, which can result in neurologic complications such as bladder dysfunction and neuropathy. Dysmorphic features include dolichocephaly, hypertelorism, ptosis, microretrognathia, high-arched palate, long, flat philtrum, and low-set ears. Multiple additional variable features may also be observed, including cryptorchidism, vertebral anomalies, and connective tissue abnormalities. Early motor development is delayed, but cognition is usually normal (summary by Gripp et al., 2015).

LATERAL MENINGOCELE SYNDROME Is also known as lehman syndrome|lms

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about LATERAL MENINGOCELE SYNDROME

Medium 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

Medium 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

Medium match TOWNES-BROCKS SYNDROME


Townes-Brocks syndrome (TBS) is a rare genetic disorder characterized by the triad of imperforate anus, dysplastic ears often associated with sensorineural and/or conductive hearing impairment, and thumb malformations. These features are often associated with other signs mainly affecting the kidneys and heart.

TOWNES-BROCKS SYNDROME Is also known as renal-ear-anal-radial syndrome|tbs|rear syndrome|townes syndrome|imperforate anus with hand, foot and ear anomalies|sensorineural deafness with imperforate anus and hypoplastic thumbs

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about TOWNES-BROCKS SYNDROME

Medium match KLEEFSTRA SYNDROME 1; KLEFS1


Submicroscopic subtelomeric deletions of chromosome 9q are associated with a recognizable mental retardation syndrome (Harada et al., 2004; Iwakoshi et al., 2004; Stewart et al., 2004; Neas et al., 2005). Common features in patients with 9q subtelomeric deletion syndrome are severe mental retardation, hypotonia, brachy(micro)cephaly, epileptic seizures, flat face with hypertelorism, synophrys, anteverted nares, everted lower lip, carp mouth with macroglossia, and heart defects. Genetic Heterogeneity of Kleefstra SyndromeKLEFS2 (OMIM ) is caused by mutation in the KMT2C gene (OMIM ) on chromosome 7q36.

KLEEFSTRA SYNDROME 1; KLEFS1 Is also known as chromosome 9q34.3 deletion syndrome|9q subtelomeric deletion syndrome|9q- syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about KLEEFSTRA SYNDROME 1; KLEFS1

Medium match 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Urinary incontinence

Symptoms // Phenotype % cases
Vesicoureteral reflux Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Bowel incontinence Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Hydronephrosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Constipation Renal insufficiency Hearing impairment Generalized hypotonia Intellectual disability Hypertension Anal atresia Short stature Muscular hypotonia Abnormal facial shape Inguinal hernia Agenesis of corpus callosum Umbilical hernia Low-set ears Ptosis Motor delay Downslanted palpebral fissures Hernia Patent ductus arteriosus Upslanted palpebral fissure Malar flattening Ventricular septal defect Hypertelorism Failure to thrive Overfolded helix Renal hypoplasia Arnold-Chiari malformation Facial asymmetry Seizures Abnormality of cardiovascular system morphology Recurrent urinary tract infections Talipes equinovarus Tetralogy of Fallot Pain Hypospadias Hypoplasia of penis

Rare Symptoms - Less than 30% cases


Narrow mouth Abnormality of the urinary system Abnormal cardiac septum morphology Chronic otitis media Strabismus Impulsivity Broad forehead Attention deficit hyperactivity disorder Microcephaly Ectopic kidney Obsessive-compulsive behavior Arrhinencephaly Short nose Hydrocephalus Anteverted nares Ventriculomegaly Abnormality of the skeletal system High palate Microphthalmia Atrial septal defect Hypothyroidism Arachnoid cyst Syringomyelia Joint hyperflexibility Behavioral abnormality Obesity Nasal speech Meningocele Abnormal pulmonary valve morphology Abnormal vertebral morphology Abnormality of the uterus Platybasia Multiple renal cysts Autism Gastroesophageal reflux Arnold-Chiari type I malformation Telecanthus Conductive hearing impairment Intestinal malrotation Abnormality of pelvic girdle bone morphology Long philtrum Short neck Anteriorly placed anus Epicanthus Micrognathia Spina bifida Bicuspid aortic valve Iris coloboma Cataract Polydipsia Urethral obstruction Urethral valve Dilatation Polyhydramnios Hydroureter Pyloric stenosis Myalgia Tracheobronchomalacia Partial duplication of thumb phalanx Abnormality of the tragus Bifid uterus Absent toe Crossed fused renal ectopia Toe clinodactyly Varicose veins Atelectasis Abnormal eyelid morphology Epibulbar dermoid Abnormal vagina morphology Chronic obstructive pulmonary disease Corneal neovascularization Rectovaginal fistula Rectoperineal fistula Delayed speech and language development Aplasia/Hypoplasia of the 3rd toe Turricephaly Bipolar affective disorder Micropenis Cerebral cortical atrophy Brachycephaly Recurrent respiratory infections Abnormal heart morphology Arrhythmia Truncus arteriosus Hypoparathyroidism Midface retrusion Patellar dislocation Intellectual disability, severe Brachydactyly Abnormality of the skull Broad hallux phalanx Lower limb asymmetry Hypoplasia of the thymus Tetany Blepharophimosis Abnormality of the foot Anorectal anomaly Retinal arteriolar tortuosity Delayed puberty Toe syndactyly Microtia Hypertensive crisis Wide mouth Abnormality of the ribs Abnormal aortic arch morphology Multiple suture craniosynostosis Abnormality of the kidney Pes planus Tricuspid atresia Clinodactyly of the 5th finger Abnormality of the tonsils Impaired T cell function Broad thumb External ear malformation Cupped ear Ulnar deviation of finger Mandibular prognathia Preaxial hand polydactyly Bifid scrotum Seborrheic dermatitis Abnormal thrombocyte morphology Abnormal aortic valve morphology Triphalangeal thumb Subcutaneous nodule Abnormality of the pharynx Chorioretinal coloboma Abnormality of vision Cranial nerve paralysis Spina bifida occulta Small earlobe Preauricular skin tag Abnormal lung lobation Foot polydactyly Posterior embryotoxon Protruding tongue Short philtrum Abnormal renal morphology Thickened helices Prominent nasal bridge Self-mutilation Pulmonary artery stenosis Tracheomalacia Carious teeth Autoimmunity Arachnodactyly Long face Natal tooth Supernumerary nipple Self-injurious behavior Bulbous nose Asthma Advanced eruption of teeth Feeding difficulties in infancy Stereotypy U-Shaped upper lip vermilion Cleft palate Wide nasal bridge Intrauterine growth retardation Optic atrophy Abnormality of the dentition Conotruncal defect Intellectual disability, mild Splenomegaly Anxiety Bronchomalacia Immunodeficiency Thrombocytopenia Depressivity Persistence of primary teeth Glaucoma Abnormal myelination Arthritis Tented upper lip vermilion Gastrointestinal hemorrhage Dyspnea Acne Poor speech Pulmonic stenosis Cholelithiasis Hand polydactyly Synophrys Abnormality of the thorax Abnormality of the cerebral white matter Autistic behavior Flat face Abnormality of the pinna Developmental regression Dysphasia Hyperthyroidism Aggressive behavior Coarse facial features Exaggerated cupid's bow Polycystic kidney dysplasia Downturned corners of mouth Psychosis Abnormality of dental enamel Specific learning disability Choanal atresia Coarctation of aorta Limitation of joint mobility Aganglionic megacolon Hypocalcemia Macroglossia Renal cyst Laryngomalacia Delayed eruption of teeth Single transverse palmar crease Sleep disturbance Highly arched eyebrow Everted lower lip vermilion Purpura Hypopigmented skin patches Schizophrenia Apathy Basilar impression Abnormality of the wing of the ilium Generalized amyotrophy Exercise-induced myalgia Areflexia of lower limbs Type 1 muscle fiber predominance Malignant hyperthermia Drowsiness Centrally nucleated skeletal muscle fibers Thin ribs Muscle fibrillation Mildly elevated creatine phosphokinase Proximal muscle weakness in lower limbs Large for gestational age Calf muscle hypertrophy Skeletal muscle hypertrophy Ophthalmoparesis Easy fatigability EMG: myopathic abnormalities Delayed gross motor development Respiratory insufficiency due to muscle weakness Restrictive deficit on pulmonary function testing Cavernous hemangioma Spontaneous abortion Prominent forehead Polymicrogyria Thin vermilion border Retinopathy Craniosynostosis Thin upper lip vermilion Jaundice Polydactyly Hyperactivity Hypertonia Proximal muscle weakness in upper limbs Hypoplasia of the corpus callosum Frontal bossing Macrocephaly Cognitive impairment Sleepy facial expression Abnormality of the foot musculature Macrocephaly at birth Neonatal asphyxia External ophthalmoplegia Progressive muscle weakness Overgrowth Acute kidney injury Facial grimacing Pyelonephritis Urinary retention Neurogenic bladder Wolff-Parkinson-White syndrome Enuresis Dysuria Keratoconjunctivitis sicca Polyuria Mild proteinuria Keratitis Clubbing Sepsis Hematuria Nephropathy Stage 5 chronic kidney disease Proteinuria Fever Urethral stenosis Enuresis nocturna Frequent falls Difficulty walking Open mouth Decreased fetal movement Generalized muscle weakness Falls Peripheral axonal neuropathy Ophthalmoplegia Facial palsy Proximal muscle weakness Pes cavus Encopresis Areflexia Myopathy Dysphagia Skeletal muscle atrophy Flexion contracture Muscle weakness Nocturnal lagophthalmos Abnormal facial expression Hip dysplasia Pigmentary retinopathy Aplasia/Hypoplasia of the sacrum Large sella turcica Single umbilical artery Unilateral renal agenesis Horseshoe kidney Omphalocele Recurrent infections Short nasal bridge Abnormality of the middle ear ossicles Dural ectasia Sclerosis of skull base Spinal dysraphism Tethered cord Biconcave vertebral bodies Low back pain Generalized osteosclerosis Abnormality of the rib cage Craniofacial hyperostosis Osteolytic defects of the phalanges of the hand Prominent metopic ridge Epispadias Macrothrombocytopenia Slender long bone Ambiguous genitalia Abnormal vertebral segmentation and fusion Hypoplastic vertebral bodies Ureteral duplication Maternal diabetes Missing ribs Abnormality of the ureter Decreased muscle mass Reduced tendon reflexes Renal agenesis Bladder exstrophy Pulmonary hypoplasia Oral cleft Joint stiffness Bifid clitoris Cloacal exstrophy Abnormality of the clitoris Exstrophy Abnormality of the anus Thickened calvaria Vertebral fusion Short chin Craniofacial asymmetry Posteriorly rotated ears Pectus excavatum Kyphosis Gait disturbance Peripheral neuropathy Feeding difficulties Sensorineural hearing impairment Partial absence of the septum pellucidum Intraventricular hemorrhage Kyphoscoliosis Ureterocele Metopic synostosis Broad face Narrow nose Absent septum pellucidum Cutis marmorata Sparse eyebrow Aplasia/Hypoplasia of the corpus callosum Proptosis Apnea Neurofibromas Increased bone mineral density Back pain Atresia of the external auditory canal Coarse hair Sleep apnea Osteolysis Microretrognathia Narrow palate Wormian bones Narrow face Hyperlordosis Dental crowding Abnormal form of the vertebral bodies Low posterior hairline Abnormality of the skin High, narrow palate Joint hypermobility Smooth philtrum Dolichocephaly Scarring Occipital myelomeningocele



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