Cryptorchidism, and Meningitis

Diseases related with Cryptorchidism and Meningitis

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


Top matches:

Medium match MIRAGE SYNDROME


MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

Medium match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Medium match ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME


X-linked alpha thalassaemia mental retardation (ATR-X) syndrome in males is associated with profound developmental delay, facial dysmorphism, genital abnormalities and alpha thalassaemia. Female carriers are usually physically and intellectually normal.

ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME Is also known as atr-x syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-THALASSEMIA-X-LINKED INTELLECTUAL DISABILITY SYNDROME

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Other less relevant matches:

Medium match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Medium match MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1


The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; {301040}) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes.

MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1 Is also known as smith-fineman-myers syndrome 1|chudley-lowry syndrome|holmes-gang syndrome|mental retardation, x-linked, with growth retardation, deafness, and microgenitalism|xlmr-hypotonic facies syndrome|carpenter-waziri syndrome|sfms|sfm1|jms|juberg-marsidi syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MENTAL RETARDATION-HYPOTONIC FACIES SYNDROME, X-LINKED, 1; MRXHF1

Low match FAMILIAL MEDITERRANEAN FEVER


Familial Mediterranean fever (FMF) is an autoinflammatory disorder characterized by recurrent short episodes of fever and serositis resulting in pain in the abdomen, chest, joints and muscles.

FAMILIAL MEDITERRANEAN FEVER Is also known as benign paroxysmal peritonitis|familial paroxysmal polyserositis|benign recurrent polyserositis|polyserositis, familial paroxysmal|fmf|periodic disease|familial mediterranean fever, autosomal recessive|polyserositis, recurrent

Related symptoms:

  • Seizures
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MEDITERRANEAN FEVER

Low match TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME


Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term).

TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME Is also known as tnf receptor 1-associated periodic syndrome|fpf|traps syndrome|hibernian fever, familial|familial hibernian fever|fhf|tnf receptor-associated periodic syndrome|tumor necrosis factor receptor-associated periodic syndrome|traps

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Edema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME

Low 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

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Cryptorchidism and Meningitis

Symptoms // Phenotype % cases
Constipation Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Recurrent urinary tract infections Common - Between 50% and 80% cases
Hypospadias Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the kidney Abnormal facial shape Pain Gastroesophageal reflux Global developmental delay Vesicoureteral reflux Anemia Talipes equinovarus Brachydactyly Generalized hypotonia Abdominal pain Growth delay Hypertelorism Hydronephrosis Vomiting Midface retrusion Cerebral cortical atrophy Low-set ears Flexion contracture Encephalitis Anteverted nares Intellectual disability Nausea Inguinal hernia Diarrhea Renal insufficiency Short stature Fever Hypertension

Rare Symptoms - Less than 30% cases


Optic atrophy Leukocytosis Epicanthus Muscular hypotonia Sensorineural hearing impairment Elevated erythrocyte sedimentation rate Amyloidosis Episodic fever Pericarditis Intestinal obstruction Peritonitis Umbilical hernia Pleuritis Wide mouth Erysipelas Flat occiput Orchitis Drooling Muscle stiffness Premature birth Acidosis Skin rash Behavioral abnormality Urinary incontinence Lymphadenopathy Stage 5 chronic kidney disease Nephropathy Chest pain Erythema Tented upper lip vermilion Thick lower lip vermilion Hypoplasia of penis Vasculitis Macroglossia Nausea and vomiting U-Shaped upper lip vermilion Spastic paraplegia Proteinuria Hepatomegaly Wide nasal bridge Arthritis Myalgia Telecanthus Arthralgia Headache Splenomegaly Arrhythmia Flat face Clubbing Polydipsia Urethral obstruction Pneumonia Recurrent infections Intrauterine growth retardation Paraplegia Sepsis Decreased testicular size Malar flattening Short nose Short neck Respiratory failure Hydroureter Hyperreflexia Depressivity Depressed nasal bridge Spasticity Micrognathia Cleft palate Scoliosis Failure to thrive Hyperkalemia Autism Bowel incontinence Dilatation Asthma Bifid clitoris Ascites Mild proteinuria Urethral stenosis Facial grimacing Hepatosplenomegaly Cloacal exstrophy Urinary retention Pyelonephritis Hematuria Neurogenic bladder Wolff-Parkinson-White syndrome Enuresis Keratitis Dysuria Keratoconjunctivitis sicca Acute kidney injury Malabsorption Polyuria Enuresis nocturna Triangular nasal tip Urethral valve Abnormality of the genital system Scrotal hypoplasia Infantile muscular hypotonia Widely spaced teeth Intellectual disability, progressive Increased body weight Narrow face Exotropia Open mouth Bilateral cryptorchidism Renal hypoplasia Narrow forehead Tapered finger Thick vermilion border Thick eyebrow Genu valgum Abnormality of the foot Radial deviation of finger Mild short stature Encopresis Widely-spaced maxillary central incisors Myocardial infarction Overjet Abnormal facial expression Paroxysmal bursts of laughter Alternating exotropia Hypoplastic philtrum Equinovarus deformity Talipes calcaneovalgus External genital hypoplasia Bilateral renal hypoplasia Short upper lip Lower limb hypertonia Asplenia Facial hypotonia Protruding tongue Abnormality of blood and blood-forming tissues Slender finger Nephrotic syndrome Epispadias Osteoarthritis Vertigo Cranial nerve paralysis Conjunctivitis Peripheral demyelination Migraine Bruising susceptibility Hepatic failure Paresthesia Macule Anal atresia Papule Hernia Edema Neoplasm Intestinal malrotation Hypermelanotic macule Cellulitis Omphalocele Chills Fasciitis Hepatic amyloidosis Abnormality of the sacroiliac joint Conjunctival hyperemia Optic neuritis Neuritis Lymphocytosis Uveitis Periorbital edema Elevated C-reactive protein level Recurrent pharyngitis Abnormal myocardium morphology Myositis Reticulocytosis Dolichocephaly Recurrent meningitis Abnormality of the clitoris Pancreatitis Inflammation of the large intestine Anteriorly placed anus Single umbilical artery Rheumatoid arthritis Systemic lupus erythematosus Chronic kidney disease Spinal dysraphism Abnormality of the urinary system Purpura Macrothrombocytopenia Nephrocalcinosis Bladder exstrophy Abnormality of the anus Exstrophy Unilateral renal agenesis Abnormality of pelvic girdle bone morphology Serositis Decreased circulating aldosterone level Azotemia Renal amyloidosis Gastrointestinal infarctions Congenital hypoplastic anemia Stiff neck Synovitis Anemia of inadequate production Horseshoe kidney Oral leukoplakia Acute hepatic failure Edema of the lower limbs Antinuclear antibody positivity Gout Increased serum ferritin Nail dystrophy Intellectual disability, moderate Microtia Poor speech Limb undergrowth Otitis media Short metacarpal Generalized myoclonic seizures Abdominal distention Inability to walk Talipes Narrow chest Encephalocele Generalized tonic-clonic seizures Autistic behavior Respiratory tract infection Hyperlordosis Anxiety Deeply set eye Skeletal dysplasia Macrotia Lumbar hyperlordosis Rhizomelia Mandibular prognathia Oral-pharyngeal dysphagia Bell-shaped thorax Loss of speech Short humerus Atonic seizures Progressive spasticity Tibial bowing Spondyloepiphyseal dysplasia Elbow dislocation Sinusitis Short metatarsal Hyperkinesis Disproportionate short-limb short stature Abnormality of the outer ear Joint dislocation Absence seizures Recurrent pneumonia Aspiration Polyhydramnios Proptosis Short femur Hypergonadotropic hypogonadism Rocker bottom foot Hyponatremia Myelodysplasia Intracranial hemorrhage Abnormal intestine morphology Leukopenia Recurrent bacterial infections Lymphopenia Petechiae Hyperpigmentation of the skin Chronic diarrhea Decreased body weight Hypoglycemia Patent ductus arteriosus Thrombocytopenia Hydrocephalus Motor delay Adrenal insufficiency Shawl scrotum Weight loss Macrocephaly Brachycephaly Severe short stature Recurrent respiratory infections Respiratory distress Abnormality of the skeletal system Frontal bossing Gait disturbance Delayed speech and language development Adrenal hypoplasia Feeding difficulties Hypoplastic spleen Radial club hand Esophageal stricture Microphallus Achalasia Overlapping fingers Aspiration pneumonia Radial bowing 11 pairs of ribs Thin upper lip vermilion Interphalangeal joint contracture of finger Abnormal aortic valve morphology Hyperammonemia Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Microretrognathia Intention tremor Pulmonary arterial hypertension Oligohydramnios 3-Methylglutaconic aciduria Aciduria Increased serum lactate Lactic acidosis Small for gestational age Short philtrum Camptodactyly of finger Hypertrophic cardiomyopathy Neonatal hypotonia Moderate global developmental delay Hyperalaninemia Encephalopathy Posteriorly rotated ears Pes planus Coarse facial features Kyphoscoliosis Micropenis Hyperactivity Hypogonadism Upslanted palpebral fissure Delayed skeletal maturation Gastroparesis Clinodactyly Obesity Hypertonia Intellectual disability, severe High palate Ptosis Hearing impairment Abnormal pulmonary valve morphology Retrognathia Long philtrum Fused cervical vertebrae Club-shaped proximal femur Agenesis of corpus callosum Clinodactyly of the 5th finger Abnormality of the dentition Blindness Myopia Distal tapering femur Multinucleated giant chondrocytes in epiphyseal cartilage Thoracic platyspondyly Joint stiffness Multiple joint dislocation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Feeding difficulties in infancy Abnormality of movement Congestive heart failure Abnormal hemoglobin Cerebellar atrophy Cardiomyopathy Respiratory insufficiency Tremor Cataract Ataxia Abnormality of the male genitalia Abnormality of fontanelles Profound global developmental delay Everted lower lip vermilion Volvulus Male pseudohermaphroditism Dysphasia Self-injurious behavior Abnormality of the face Aganglionic megacolon Depressed nasal ridge Ambiguous genitalia Nocturnal lagophthalmos



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