Cryptorchidism, and Polycystic kidney dysplasia

Diseases related with Cryptorchidism and Polycystic kidney dysplasia

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


Top matches:

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 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 MECKEL SYNDROME, TYPE 1; MKS1


Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel SyndromeSee also MKS2 (OMIM ), caused by mutation in the TMEM216 gene (OMIM ) on chromosome 11q12; MKS3 (OMIM ), caused by mutation in the TMEM67 gene (OMIM ) on chromosome 8q; MKS4 (OMIM ), caused by mutation in the CEP290 gene (OMIM ) on chromosome 12q; MKS5 (OMIM ), caused by mutation in the RPGRIP1L gene (OMIM ) on chromosome 16q12; MKS6 (OMIM ), caused by mutation in the CC2D2A gene (OMIM ) on chromosome 4p15; MKS7 (OMIM ), caused by mutation in the NPHP3 (OMIM ) gene on chromosome 3q22; MKS8 (OMIM ), caused by mutation in the TCTN2 gene (OMIM ) on chromosome 12q24; MKS9 (OMIM ), caused by mutation in the B9D1 gene (OMIM ) on chromosome 17p11; MKS10 (OMIM ), caused by mutation in the B9D2 gene (OMIM ) on chromosome 19q13; MKS11 (OMIM ), caused by mutation in the TMEM231 gene (OMIM ) on chromosome 16q23; MKS12 (OMIM ), caused by mutation in the KIF14 gene (OMIM ) on chromosome 1q32; and MKS13 (OMIM ), caused by mutation in the TMEM107 gene (OMIM ) on chromosome 17p13.

MECKEL SYNDROME, TYPE 1; MKS1 Is also known as mks|meckel-gruber syndrome, type 1|meckel syndrome|gruber syndrome|dysencephalia splanchnocystica|mes|meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about MECKEL SYNDROME, TYPE 1; MKS1

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Other less relevant matches:

High match PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A


The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A

High match ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16


Alpha-thalassemia-intellectual deficit syndrome linked to chromosome 16 (ATR-16), a contiguous gene deletion syndrome, is a form of alpha-thalassemia (see this term) characterized by microcytosis, hypochromia, normal hemoglobin (Hb) level or mild anemia, associated with developmental abnormalities.

ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16 Is also known as hbhr|atr syndrome, deletion type|alpha thalassemia-mental retardation syndrome|mental retardation with hemoglobin h|alpha thalassemia-intellectual disability syndrome, deletion type|alpha-thalassemia/mental retardation syndrome, deletion-type|atr, deletio

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ALPHA-THALASSEMIA-INTELLECTUAL DISABILITY SYNDROME LINKED TO CHROMOSOME 16

High match PERLMAN SYNDROME


Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

High match OROFACIODIGITAL SYNDROME TYPE 6


Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

High match TOWNES-BROCKS SYNDROME 1; TBS1


Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease (Webb et al., 2017). Genetic Heterogeneity of Townes-Brocks SyndromeTownes-Brocks syndrome-2 (TBS2 ) is caused by mutation in the DACT1 gene (OMIM ) on chromosome 14q23.

TOWNES-BROCKS SYNDROME 1; TBS1 Is also known as deafness, sensorineural, with imperforate anus and thumb anomalies|anus, imperforate, with hand, foot, and ear anomalies|renal-ear-anal-radial syndrome|rear syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about TOWNES-BROCKS SYNDROME 1; TBS1

High match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

High match ROBERTS SYNDROME; RBS


Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ROBERTS SYNDROME; RBS

Top 5 symptoms//phenotypes associated to Cryptorchidism and Polycystic kidney dysplasia

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormality of the kidney Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay

Common Symptoms - More than 50% cases


Low-set ears

Uncommon Symptoms - Between 30% and 50% cases


Retrognathia Radial deviation of finger Microcephaly Renal dysplasia Clinodactyly Hypospadias Epicanthus Syndactyly Short stature Abnormality of cardiovascular system morphology Hernia High palate Muscular hypotonia Short neck Posteriorly rotated ears Polydactyly Cleft upper lip Cataract Talipes equinovarus Renal agenesis Talipes Flexion contracture Microphthalmia Generalized hypotonia Nystagmus Failure to thrive Malar flattening Pulmonary hypoplasia Downslanted palpebral fissures Wide nasal bridge Neoplasm Postaxial polydactyly Abnormal heart morphology High forehead Clitoral hypertrophy Cleft lip Agenesis of corpus callosum Opacification of the corneal stroma Patent ductus arteriosus Dilatation Intrauterine growth retardation Oligohydramnios Multicystic kidney dysplasia Anal atresia Edema Abnormal facial shape Hydronephrosis Abnormality of the genital system Respiratory distress Preaxial polydactyly Prominent nasal bridge Polyhydramnios Tracheoesophageal fistula Growth delay Brachydactyly Micropenis

Rare Symptoms - Less than 30% cases


Corneal opacity Apnea Meningocele Severe intrauterine growth retardation Absent radius Underdeveloped nasal alae Short femoral neck Accessory spleen Lobulated tongue Melanoma Intellectual disability, severe Hepatomegaly Knee flexion contracture Occipital meningocele Blue sclerae Breech presentation Thrombocytopenia Dolichocephaly Underdeveloped supraorbital ridges Toe syndactyly Preaxial hand polydactyly Capillary hemangioma Hamartoma Bilateral single transverse palmar creases Pain Ventricular septal defect Abnormality of the pinna Coloboma Hypertension Inguinal hernia Renal insufficiency Short thumb Macroglossia Sparse hair Microtia Low-set, posteriorly rotated ears Anteverted nares Frontal bossing Depressed nasal bridge Ptosis Falls Foot polydactyly Brachycephaly Glaucoma Proptosis Postnatal growth retardation Paralysis Bicornuate uterus Upper limb undergrowth Craniosynostosis Low hanging columella Premature separation of centromeric heterochromatin Dandy-Walker malformation Webbed neck Renal cyst Absent earlobe Primary amenorrhea Wide mouth Tetraphocomelia Hydrocephalus Midface capillary hemangioma Prominent scrotal raphe Wrist flexion contracture Mesoaxial hand polydactyly Rectovaginal fistula Hydroureter Abnormal vertebral morphology Postaxial hand polydactyly Abdominal distention Obesity Urethral obstruction Bilateral renal agenesis Vaginal atresia Aplasia of the ulna Tetralogy of Fallot Encephalocele Subvalvular aortic stenosis Spina bifida Phocomelia Bowing of the long bones Long penis Hepatic fibrosis Renal hypoplasia Abdominal pain Visual loss Hypoplasia of the corpus callosum Bilateral cleft lip Sensorineural hearing impairment Hearing impairment Central Y-shaped metacarpal Midline notch of upper alveolar ridge Y-shaped metacarpals Hypoplasia of olfactory tract Bulimia Bilateral cleft lip and palate Hypothalamic hamartoma Hypothyroidism Shallow orbits Gastroesophageal reflux Oligodactyly Preauricular skin tag Synostosis of carpal bones Broad thumb Bilateral sensorineural hearing impairment Vesicoureteral reflux Triangular mouth Stage 5 chronic kidney disease External ear malformation Mesoaxial polydactyly Facial asymmetry Craniofacial dysostosis Small for gestational age Fibular hypoplasia Umbilical hernia Macrotia Ankle contracture Episodic tachypnea Accessory oral frenulum Tongue nodules Highly arched eyebrow Finger clinodactyly Cerebellar vermis hypoplasia Apraxia Esotropia Broad nasal tip Abnormal cerebellum morphology Long face Aplasia/Hypoplasia of the corpus callosum Oral cleft Hydranencephaly Patellar aplasia Feeding difficulties in infancy Narrow naris Abnormality of the upper limb Abnormality of the nervous system Oculomotor apraxia Tachypnea Hamartoma of tongue Partial agenesis of the corpus callosum Abnormal oral frenulum morphology Abnormality of the outer ear Eyelid coloboma Preaxial foot polydactyly Biliary tract abnormality Short femur Biparietal narrowing Tibial bowing Renal hypoplasia/aplasia Abnormal retinal morphology Molar tooth sign on MRI Abnormality of neuronal migration Hand oligodactyly Bilateral cryptorchidism Trigonocephaly Hand polydactyly Microretrognathia Chorioretinal coloboma Short metatarsal Intellectual disability, mild Radioulnar synostosis Atrial septal defect Proximal placement of thumb Clinodactyly of the 5th finger Skeletal dysplasia Short philtrum Congestive heart failure Frontal encephalocele Pseudoepiphyses of second metacarpal Satyr ear Aplasia/Hypoplasia of the 3rd toe 2-4 finger syndactyly Stahl ear Pulmonary valve atresia Bilateral triphalangeal thumbs Talipes equinovalgus Hypoplasia of the radius Convex nasal ridge Wormian bones Myocardial infarction Hemiparesis Complete duplication of thumb phalanx Aortic valve stenosis Facial hemangioma Absent speech Sandal gap Intermittent thrombocytopenia Hemangioma Progressive flexion contractures Premature birth Chest pain Hypotrichosis Finger syndactyly Mesomelic arm shortening Rectoperineal fistula Recurrent urinary tract infections Redundant skin Anal stenosis Clinodactyly of the 5th toe Fair hair Epibulbar dermoid Duane anomaly Duodenal atresia Truncus arteriosus Cystic hygroma Radial club hand Overlapping toe 2-3 toe syndactyly Preauricular pit Bifid scrotum Overfolded helix Humeroradial synostosis Triphalangeal thumb Partial duplication of thumb phalanx 3-4 finger syndactyly Absent thumb Cranial nerve paralysis Cafe-au-lait spot Metatarsal synostosis Elbow flexion contracture Bilateral radial aplasia Horseshoe kidney Aplasia/Hypoplasia of the thumb Overfolding of the superior helices Bifid uterus Hip contracture Abnormality of the metacarpal bones 3-4 toe syndactyly Eosinophilia Bilateral talipes equinovarus Urethral valve Anonychia Conductive hearing impairment Smooth philtrum Gait disturbance Ambiguous genitalia, male Cerebral hypoplasia Neural tube defect Urethral atresia Meningoencephalocele Elevated alpha-fetoprotein Ambiguous genitalia, female Cerebellar dysplasia Portal fibrosis Cystic renal dysplasia Elevated amniotic fluid alpha-fetoprotein Bile duct proliferation Abnormality of the larynx Abnormality of the uterus Asplenia Single umbilical artery Adrenal hypoplasia Abnormality of the ureter Anencephaly Natal tooth Hypoplasia of the bladder Olfactory lobe agenesis External genital hypoplasia Joint contracture of the hand Abnormality of the helix Turricephaly Palpebral edema Metatarsus adductus Cubitus valgus Poor suck Intellectual disability, progressive Aminoaciduria Large fontanelles Large placenta Pigmentary retinopathy Single transverse palmar crease Developmental regression Camptodactyly Jaundice Acidosis Upslanted palpebral fissure Areflexia Craniorachischisis Occipital encephalocele Arnold-Chiari malformation Abnormality of the mitochondrion Urogenital fistula Choanal atresia Amenorrhea Rod-cone dystrophy Abnormality of the skeletal system Fetal polyuria Bilateral renal dysplasia Sirenomelia Potter facies Nonketotic hypoglycemia Lymphedema Bilateral renal hypoplasia Abnormal sacrum morphology Abnormality of female internal genitalia Non-midline cleft lip Unilateral renal agenesis Abnormality of the genitourinary system Abnormal intestine morphology Depressed nasal ridge Proteinuria Aganglionic megacolon Hydrops fetalis Spontaneous abortion Splenomegaly Omphalocele Coarctation of aorta Hypotelorism Sloping forehead Intestinal malrotation Iris coloboma Abnormal cardiac septum morphology Cerebellar hypoplasia Hydrocolpos Congenital hip dislocation Pelvic mass Vesicovaginal fistula Transverse vaginal septum Hydrometrocolpos Penoscrotal hypospadias Chordee Nonimmune hydrops fetalis Edema of the lower limbs Esophageal atresia Hypoplasia of the thymus Optic nerve dysplasia Tremor Large for gestational age Hypoxemia Volvulus Thick upper lip vermilion Renal neoplasm Polysplenia Enlarged kidney Neurodevelopmental delay Global brain atrophy Nephroblastoma Visceromegaly Hyperinsulinemia Growth abnormality Tented upper lip vermilion Tall stature Open mouth Status epilepticus Lumbar hyperlordosis Cardiomegaly Congenital diaphragmatic hernia Thickened helices Interrupted aortic arch Abnormality of the cardiovascular system Naevus flammeus of the eyelid Fever Ataxia Prominent xiphoid process Distal ileal atresia Ileal atresia Nephrogenic rest Renal hamartoma Hypoplasia of the abdominal wall musculature Abnormality of pancreas morphology Femoral hernia Nephroblastomatosis Thymus hyperplasia Fetal ascites Abnormality of upper lip Lumbar scoliosis Long upper lip Pancreatic islet-cell hyperplasia Broad alveolar ridges Intestinal atresia Hypoplasia of penis Overgrowth Brushfield spots Congenital cataract Myelomeningocele Protruding tongue Microcytic anemia Aplasia/Hypoplasia of the eyebrow Supernumerary nipple Short toe Dental crowding Bruising susceptibility Neurological speech impairment Brain neoplasm Broad forehead Pectus carinatum Intellectual disability, moderate Long philtrum Fatigue Anemia Stippled chondral calcification Intrahepatic biliary dysgenesis Elevated long chain fatty acids Osteosarcoma Aplasia/Hypoplasia of the earlobes Specific learning disability Cerebral atrophy Round face Ascites High, narrow palate Flat face Hyperlordosis Muscular hypotonia of the trunk Deeply set eye Hepatosplenomegaly Prominent forehead Short nose Hypochromic microcytic anemia Macrocephaly Scoliosis Neurocytoma Triangular nasal tip Hemoglobin H Reduced alpha/beta synthesis ratio Flat forehead Hypochromic anemia Asymmetry of the thorax Enlarged labia minora



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Blepharophimosis, related diseases and genetic alterations Microphthalmia and Joint hyperflexibility, related diseases and genetic alterations Abnormality of the skeletal system and Hypothyroidism, related diseases and genetic alterations Hyperreflexia and Hyperglycemia, related diseases and genetic alterations

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