Cryptorchidism, and Renal dysplasia

Diseases related with Cryptorchidism and Renal dysplasia

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


Top 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 RENAL AGENESIS, BILATERAL


Bilateral renal agenesis is the most profound form of renal agenesis (see this term), characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.

RENAL AGENESIS, BILATERAL Is also known as renal aplasia|renal adysplasia|hereditary renal aplasia|renal agenesis|hra

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Cryptorchidism
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about RENAL AGENESIS, BILATERAL

High match BRESEK SYNDROME


X-linked mental retardation, Reish type is characterised by Brain anomalies, severe mental Retardation, Ectodermal dysplasia, Skeletal deformities (vertebral anomalies, scoliosis, polydactyly), Ear/eye anomalies (maldevelopment, small optic nerves, low set and large ears with hearing loss) and Kidney dysplasia/hypoplasia (giving the acronym BRESEK syndrome).

BRESEK SYNDROME Is also known as bresheck syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Growth delay


SOURCES: MESH ORPHANET MENDELIAN

More info about BRESEK SYNDROME

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Other less relevant matches:

High match CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY


Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

High match DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE


Deafness-intellectual disability syndrome, Martin-Probst type is characterised by severe bilateral deafness, intellectual deficit, umbilical hernia and abnormal dermatoglyphics. It has been described in three males from three generations of one family. Mild facial dysmorphism (telangiectasias, hypertelorism, dental anomalies and a wide nasal root) was also present. Short stature, pancytopaenia, microcephaly, and renal and genitourinary anomalies were present in some of the patients. The mode of transmission is X-linked recessive and the causative gene has been localised to the q1-21 region of the X chromosome.

DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE Is also known as martin-probst deafness-mental retardation syndrome|x-linked deafness-intellectual disability syndrome syndrome|martin-probst syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DEAFNESS-INTELLECTUAL DISABILITY SYNDROME, MARTIN-PROBST TYPE

High match PENOSCROTAL TRANSPOSITION


Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Micrognathia
  • Cryptorchidism
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PENOSCROTAL TRANSPOSITION

High match CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME


Corpus callosum agenesis-abnormal genitalia syndrome is a rare, genetic developmental defect during embryogenesis syndrome characterized by agenesis of the corpus callosum, mild to severe neurological manifestations (intellectual disability, developmental delay, epilepsy, dystonia), and urogenital anomalies (hypospadias, cryptorchidism, renal dysplasia, ambiguous genitalia). Additionally, skeletal anomalies (limb contractures, scoliosis), dysmorphic facial features (prominent supraorbital ridges, synophris, large eyes) and optic atrophy have been observed.

CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME Is also known as proud syndrome|microcephaly-corpus callosum agenesis-abnormal genitalia syndrome|acc with abnormal genitalia|acc-abnormal genitalia syndrome|proud-levine-carpenter syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-ABNORMAL GENITALIA SYNDROME

High match SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13


Related symptoms:

  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Respiratory insufficiency
  • Microphthalmia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY; SRTD13

High match CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED


CAKUTHED is an autosomal dominant highly pleiotropic developmental disorder characterized mainly by variable congenital anomalies of the kidney and urinary tract, sometimes resulting in renal dysfunction or failure, dysmorphic facial features, and abnormalities of the outer ear, often with hearing loss. Most patients have global developmental delay (summary by Heidet et al., 2017 and Slavotinek et al., 2017).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT SYNDROME WITH OR WITHOUT HEARING LOSS, ABNORMAL EARS, OR DEVELOPMENTAL DELAY; CAKUTHED

High match WALKER-WARBURG SYNDROME


Walker-Warburg Syndrome (WWS) is a rare form of congenital muscular dystrophy associated with brain and eye abnormalities.

WALKER-WARBURG SYNDROME Is also known as hard syndrome|cerebroocular dysplasia-muscular dystrophy syndrome|hydrocephalus, agyria, and retinal dysplasia|walker-warburg syndrome or muscle-eye-brain disease, pomt1-related|wws|hydrocephalus-agyria-retinal dysplasia syndrome|cod-md syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about WALKER-WARBURG SYNDROME

Top 5 symptoms//phenotypes associated to Cryptorchidism and Renal dysplasia

Symptoms // Phenotype % cases
Renal hypoplasia Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Low-set ears Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Micropenis Intellectual disability, severe Cleft palate Epicanthus Microphthalmia Protruding ear Occipital encephalocele Ambiguous genitalia Lissencephaly Short stature Seizures Encephalocele Growth delay Scoliosis Dandy-Walker malformation Renal agenesis Hearing impairment Agenesis of corpus callosum Cerebellar hypoplasia Hydrocephalus Hypoplasia of the corpus callosum Generalized hypotonia Abnormal facial shape

Rare Symptoms - Less than 30% cases


Intrauterine growth retardation Strabismus Flexion contracture Iris coloboma Cerebellar vermis hypoplasia Cerebral cortical atrophy Vesicoureteral reflux Wide nasal bridge Wide intermamillary distance Stage 5 chronic kidney disease Bifid scrotum Hernia Renal insufficiency Myopia Cataract Optic nerve hypoplasia Microtia Micrognathia Hypospadias Inguinal hernia Optic atrophy Abnormality of the genital system Dilatation Motor delay Hypoplasia of penis Muscular dystrophy Respiratory insufficiency Heterotopia Decreased testicular size Renal cyst Cleft lip Proteinuria Abnormality of the kidney Type II lissencephaly Anal atresia Pulmonary hypoplasia Oligohydramnios Hypoplasia of the brainstem Hydronephrosis Elevated serum creatine phosphokinase Severe muscular hypotonia Absent septum pellucidum Retinal dysplasia Blindness Abnormal intestine morphology Primary amenorrhea Coarse facial features Spasticity Congenital muscular dystrophy Abnormal cardiac septum morphology Autistic behavior Midface retrusion Abnormality of the nervous system Thin upper lip vermilion Prominent nose Hyperconvex nail Poor speech Long face Recurrent urinary tract infections Narrow face Spina bifida Horseshoe kidney Spina bifida occulta Broad alveolar ridges Abnormality of the urinary system Chronic kidney disease Autism Hypoplastic facial bones Anteverted nares Narrow chest Limb undergrowth Postaxial polydactyly Omphalocele Bowing of the long bones Rhizomelia Short ribs Deep philtrum Microretrognathia Relative macrocephaly Preaxial polydactyly Thoracic hypoplasia Molar tooth sign on MRI Natal tooth Bell-shaped thorax Flat acetabular roof Delayed speech and language development Skeletal dysplasia Macrotia Thoracic dysplasia Respiratory failure Polydactyly Hypoplastic pelvis Bifid tongue Cleft soft palate Horizontal ribs Lobulated tongue Patent ductus arteriosus Squared iliac bones Unicoronal synostosis Feeding difficulties Spontaneous abortion Posteriorly rotated ears Ectopic kidney Bilateral cleft lip Muscle fiber splitting Peters anomaly Aqueductal stenosis Buphthalmos Abnormality of the optic nerve Abnormal cortical gyration Megalocornea Cerebellar cyst Retinal atrophy Submucous cleft hard palate Congenital glaucoma Abnormality of neuronal migration Anophthalmia Congenital contracture Cerebellar dysplasia Agyria Pachygyria Severe hydrocephalus Thick cerebral cortex Aplasia/Hypoplasia involving the skeletal musculature Hypoplastic male external genitalia Chorioretinal dysplasia Abnormal lactate dehydrogenase activity Macrogyria Metatarsus valgus Excessive daytime sleepiness Abnormality of the cerebellar vermis Abnormal levels of creatine kinase in blood Hypoglycosylation of alpha-dystroglycan Meningoencephalocele Posterior fossa cyst Remnants of the hyaloid vascular system Atresia of the external auditory canal Intellectual disability, profound Poor eye contact Decreased numbers of nephrons Ventriculomegaly Frontal bossing Macrocephaly Skeletal muscle atrophy Muscular hypotonia Muscle weakness Bifid ureter Areflexia Urethral valve Hypoplastic helices Uterus didelphys Anteverted ears Hyperechogenic kidneys Thickened helices Myopathy Hyporeflexia Specific learning disability Cleft upper lip Bifid uvula Microcornea Retinal detachment Retinal dystrophy Polymicrogyria Oral cleft Congenital cataract Abnormal hair pattern Abnormality of the cerebral white matter Corneal opacity Retinopathy Coloboma Proptosis Glaucoma Limb joint contracture Pseudohypoparathyroidism Abnormally large globe Acidosis Alopecia Hypotrichosis Ichthyosis Convex nasal ridge Postaxial hand polydactyly Aganglionic megacolon Hemivertebrae Plagiocephaly Abnormality of brain morphology Hypoplasia of the bladder Pain Vomiting Diarrhea Metabolic acidosis Bilateral renal dysplasia Sepsis Hyperlipidemia Hypercholesterolemia Hypoalbuminemia Hyponatremia Malnutrition Villous atrophy Protein-losing enteropathy Enterocolitis Intractable diarrhea Sensorineural hearing impairment Abnormality of the dentition Malar flattening Hypothyroidism Fetal polyuria Sirenomelia Telecanthus Multicystic kidney dysplasia Cognitive impairment Opacification of the corneal stroma Cortical dysplasia Anencephaly Renal cortical cysts Optic nerve dysplasia Hypertension Talipes equinovarus Abnormality of cardiovascular system morphology Retrognathia Talipes Falls Depressed nasal ridge Abnormality of the genitourinary system Urethral obstruction Polycystic kidney dysplasia Unilateral renal agenesis Tracheoesophageal fistula Non-midline cleft lip Breech presentation Bicornuate uterus Vaginal atresia Abnormality of female internal genitalia Bilateral renal agenesis Abnormal sacrum morphology Bilateral renal hypoplasia Nonketotic hypoglycemia Urogenital fistula Potter facies Umbilical hernia Intellectual disability, moderate Infantile spasms Visual impairment Dimple chin Nephrogenic diabetes insipidus Abnormality of the urethra Penoscrotal hypospadias Abnormal external genitalia Female external genitalia in individual with 46,XY karyotype Absent facial hair Blind vagina Penoscrotal transposition Incomplete male pseudohermaphroditism Scrotal hypospadias Nystagmus High palate Hyperactivity Elevated circulating luteinizing hormone level Neonatal hypotonia Severe global developmental delay Synophrys Hirsutism Tapered finger Tetraplegia Spastic tetraplegia Low anterior hairline Generalized hirsutism Intellectual disability, progressive Renal hypoplasia/aplasia Prominent supraorbital ridges Overlapping toe Abnormality of the hip bone Perineal hypospadias Aplasia of the uterus Wide mouth Obesity Blepharophimosis Everted lower lip vermilion Dental malocclusion Pancytopenia Thick lower lip vermilion Telangiectasia Abnormal dermatoglyphics Congenital sensorineural hearing impairment Telangiectasia of the skin Hypoplastic nipples Aplasia/Hypoplasia of the nipples Chordee Neoplasm Cardiomyopathy Clinodactyly of the 5th finger Menstrual irregularities Pectus carinatum Gynecomastia Bilateral single transverse palmar creases Growth abnormality Diabetes insipidus Prominent occiput Abnormality of the ureter Shawl scrotum Male pseudohermaphroditism Sparse axillary hair Sparse pubic hair Labial hypoplasia Elevated circulating follicle stimulating hormone level Patellar aplasia Abnormal aldolase level



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Generalized tonic-clonic seizures, related diseases and genetic alterations Arthritis and Muscular dystrophy, related diseases and genetic alterations Hyperreflexia and Arthritis, related diseases and genetic alterations Wide nasal bridge and Thick vermilion border, related diseases and genetic alterations Failure to thrive and Sepsis, related diseases and genetic alterations Microcephaly and Mandibular prognathia, related diseases and genetic alterations

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