Hydrocephalus, and Recurrent urinary tract infections

Diseases related with Hydrocephalus and Recurrent urinary tract infections

In the following list you will find some of the most common rare diseases related to Hydrocephalus and Recurrent urinary tract infections that can help you solving undiagnosed cases.

Top matches:

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

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

Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

Other less relevant matches:

Robinow syndrome, a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies (summary by Roifman et al., 2015).For a discussion of genetic heterogeneity of Robinow syndrome, see RRS (OMIM ).

ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1 Is also known as robinow dwarfism|acral dysostosis with facial and genital abnormalities|fetal face syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ROBINOW SYNDROME, AUTOSOMAL DOMINANT 1; DRS1

Medium match ACHONDROPLASIA; ACH

Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC, cblD (OMIM ), cblF (OMIM ), and cblJ (OMIM ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ) is caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ) is caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ) is caused by mutation in the MMAB gene (OMIM ) on 12q24.Methylmalonic aciduria and homocystinuria, cblC type, is the most common inborn error of vitamin B12 (cobalamin) metabolism, with about 250 known cases (Lerner-Ellis et al., 2006). Affected individuals may have developmental, hematologic, neurologic, metabolic, ophthalmologic, and dermatologic clinical findings. Although considered a disease of infancy or childhood, some individuals develop symptoms in adulthood (Rosenblatt et al., 1997).

METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC Is also known as vitamin b12 metabolic defect with combined deficiency of methylmalonyl-coa mutase and homocysteine:methyltetrahydrofolate methyltransferase|methylmalonic aciduria and homocystinuria, vitamin b12-responsive|methylmalonic acidemia and homocystinuria, cblc t

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLC TYPE; MAHCC

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

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

Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing loss, generalized hypertrichosis, and extremity, ocular and dental anomalies.

GORLIN-CHAUDHRY-MOSS SYNDROME Is also known as gcm syndrome|gorlin-chaudhry-moss syndrome|craniofacial dysostosis, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies, patent ductus arteriosus, and normal intelligence|craniofacial dysostosis-genital, dental, cardiac anomalies syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GORLIN-CHAUDHRY-MOSS SYNDROME

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Top 5 symptoms//phenotypes associated to Hydrocephalus and Recurrent urinary tract infections

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Recurrent urinary tract infections. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Anemia

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Proptosis Micrognathia Hypertelorism Seizures Nystagmus Patent ductus arteriosus Thrombocytopenia Atrial septal defect Hypospadias Failure to thrive Frontal bossing Microcephaly Abnormality of the genital system Low-set ears Brachydactyly Postnatal growth retardation Intrauterine growth retardation Cataract Microphthalmia Visual impairment Abnormality of the kidney Hypertension Abnormal vertebral morphology Macrocephaly Posteriorly rotated ears Cleft palate Skeletal dysplasia Confusion Congestive heart failure Abnormality of the skeletal system Weight loss Umbilical hernia Renal insufficiency Muscle weakness Hypergonadotropic hypogonadism Syndactyly Cranial nerve paralysis Talipes equinovarus Hydronephrosis Gastroesophageal reflux Vesicoureteral reflux Abnormality of the metacarpal bones Retrognathia Generalized hypotonia Renal agenesis Strabismus High palate Absent radius Horseshoe kidney Depressed nasal bridge Abnormal heart morphology Downslanted palpebral fissures Pancytopenia Malar flattening Midface retrusion Oligohydramnios

Rare Symptoms - Less than 30% cases

Oral cleft Triangular mouth Abnormality of pelvic girdle bone morphology Communicating hydrocephalus Hypoplastic nipples Osteopetrosis Radial deviation of finger Hemivertebrae Upslanted palpebral fissure Clinodactyly Wide anterior fontanel Rhizomelia Micropenis Hypogonadism Long philtrum Scarring Thin upper lip vermilion Epicanthus Short palpebral fissure Neoplasm Abnormal eyelid morphology Abnormality of vision Wide nasal bridge Hernia Anteverted nares Short neck Short nose Delayed skeletal maturation Sparse hair Flexion contracture Tetralogy of Fallot Cafe-au-lait spot Abnormality of cardiovascular system morphology Polyhydramnios Abnormal cardiac septum morphology Finger syndactyly Facial asymmetry Anal atresia Pulmonary hypoplasia Intestinal malrotation Small nail Pulmonary arterial hypertension Choanal atresia Short thumb Spina bifida Triphalangeal thumb Tracheoesophageal fistula Ectopic kidney Aplasia/Hypoplasia of the radius Convex nasal ridge Brachycephaly Craniosynostosis Ventricular septal defect Neutropenia Hyperreflexia Myelopathy Ventriculomegaly Severe short stature Conductive hearing impairment Cleft lip Leukemia Lymphoma Myeloid leukemia Abnormality of femur morphology Cor pulmonale Astigmatism Abnormality of skin pigmentation Abnormality of the foot Ataxia Abnormality of the eye Respiratory distress Bicornuate uterus Anonychia Abnormal facial shape Feeding difficulties Respiratory insufficiency Smooth philtrum Short femoral neck Hip dislocation Reduced visual acuity Dilatation Osteoarthritis Short distal phalanx of finger Paralysis Arthritis Mandibular prognathia Renal dysplasia Abnormality of the dentition Multicystic kidney dysplasia Coloboma Motor delay Leukopenia Myelodysplasia Joint hyperflexibility Glaucoma Nephropathy Abnormality of the metaphysis Pneumonia Ureteropelvic junction obstruction Sepsis Bone marrow hypocellularity Proteinuria Edema Shawl scrotum Midface capillary hemangioma Polycystic kidney dysplasia Upper limb undergrowth Shallow orbits Platyspondyly Severe intrauterine growth retardation Ankle contracture Fibular hypoplasia Oligodactyly Cystic hygroma Hypermetropia Bilateral talipes equinovarus Clitoral hypertrophy Eosinophilia Broad forehead Melanoma Opacification of the corneal stroma Knee flexion contracture Elbow flexion contracture Stage 5 chronic kidney disease Synophrys Encephalocele Blue sclerae Bilateral radial aplasia Retinal detachment Underdeveloped nasal alae Bilateral cleft lip Low hanging columella Premature separation of centromeric heterochromatin Intellectual disability, mild Absent earlobe Talipes equinovalgus Aplasia of the ulna Joint laxity Bilateral renal agenesis Accessory spleen Frontal encephalocele Craniofacial dysostosis Hypoplasia of the corpus callosum Narrow naris Wrist flexion contracture Hydranencephaly Bilateral cleft lip and palate Renal cyst Cerebellar hypoplasia Phocomelia Hand oligodactyly Narrow mouth Biliary tract abnormality Enlarged labia minora Long penis Subvalvular aortic stenosis Intermittent thrombocytopenia Tetraphocomelia Eyelid coloboma Abnormality of the pinna Joint dislocation Cleft upper lip Unilateral renal agenesis Anencephaly Nephrolithiasis Wheezing Occipital encephalocele Transposition of the great arteries Abnormality of the sternum Non-midline cleft lip Vertebral segmentation defect Hypoplastic left heart Right bundle branch block Bundle branch block Dextrocardia Preaxial hand polydactyly Macular degeneration Bifid scrotum Aplasia/Hypoplasia of the lungs Abnormality of the genitourinary system Radioulnar synostosis Preaxial polydactyly Laryngomalacia Hypoplasia of the radius Tachypnea Abnormality of the outer ear Chronic kidney disease Situs inversus totalis Preauricular skin tag Hyperextensible skin Large fontanelles Omphalocele Nephritis Esophageal atresia Missing ribs Talipes Abnormality of the urethra Corneal opacity Prominent nasal bridge Short philtrum Gliosis Progressive visual loss Patent urachus Asymmetric crying face Abnormal tracheobronchial morphology Perineal fistula Potter facies Abnormality of the gallbladder Hemifacial hypoplasia Absence of the sacrum Anorectal anomaly Abnormality of the intervertebral disk Single umbilical artery Lower limb undergrowth Vertebral clefting Laryngeal stenosis Abnormality of the nasopharynx Abnormal sacrum morphology Supernumerary ribs Tethered cord Cavernous hemangioma Abnormality of female internal genitalia Abnormality of the pancreas Atelectasis Rectovaginal fistula Duodenal atresia Tracheal stenosis Renal hypoplasia Low posterior hairline High, narrow palate Absent thumb Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Chromosome breakage Hearing abnormality External ear malformation Irregular hyperpigmentation Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Hydroureter Abnormality of the thumb Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Hyperinsulinemia Abnormality of the urinary system Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Azoospermia Type I diabetes mellitus Insulin resistance Telangiectasia Aganglionic megacolon Sloping forehead Abnormality of the testis Acute monocytic leukemia Bruising susceptibility Clubbing of toes Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Partial duplication of thumb phalanx Abnormality of the hypothalamus-pituitary axis Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Hypopigmentation of the skin Vertigo Everted lower lip vermilion Myopia Abnormality of the skull Turricephaly Underdeveloped supraorbital ridges Protruding tongue Prematurely aged appearance Anteriorly placed anus Natal tooth Reduced subcutaneous adipose tissue Bilateral cryptorchidism Tricuspid regurgitation Large hands Aortic aneurysm Redundant skin Coarse hair Oligodontia Sclerocornea Scrotal hypoplasia Bicuspid aortic valve Generalized hirsutism Low anterior hairline Left ventricular hypertrophy Pachygyria Heterotopia Hypertrichosis Sparse scalp hair Abnormality of the ribs Cerebellar vermis hypoplasia Microdontia Triangular face Hypoplasia of the maxilla Coronal craniosynostosis Sensorineural hearing impairment Toe syndactyly Ptosis Dolichocephaly Small for gestational age Abnormality of the liver Irritability Hypertrophic cardiomyopathy Carcinoma Pes planus Hypothyroidism Diabetes mellitus Clinodactyly of the 5th finger Headache Fatigue Fever Hepatomegaly Aplasia/Hypoplasia of the nasal bone Premature skin wrinkling Aplastic/hypoplastic lacrimal glands Congenital craniofacial dysostosis Hypoplasia of the abdominal wall musculature Wide nasal ridge Absent distal phalanges Upper eyelid coloboma Recurrent aspiration pneumonia Absence of subcutaneous fat Dermal translucency Hypoplasia of the musculature Pneumothorax Absent nipple Deep palmar crease Prominent superficial veins Visual field defect Tachycardia Congenital diaphragmatic hernia Bifid distal phalanx of toe Recurrent bacterial infections Rigidity Arthralgia Abnormal intestine morphology Obesity Intracranial hemorrhage Delayed speech and language development Hyponatremia Pain Rocker bottom foot Adrenal insufficiency Absent penis Right ventricular outlet obstruction Short hard palate Meningitis Duplication of the distal phalanx of hand Broad toe Aplasia of the middle phalanx of the hand Renal duplication Hyperkalemia Clitoral hypoplasia Short middle phalanx of the 5th finger Elevated circulating follicle stimulating hormone level Bifid tongue Petechiae Misalignment of teeth Hypoplastic labia majora Capillary hemangioma Nevus flammeus Abnormality of the nervous system Apnea Long palpebral fissure Acanthosis nigricans Limited elbow extension Bowel incontinence Chronic diarrhea Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Back pain Genu varum Tinnitus Disproportionate short-limb short stature Short long bone Infantile muscular hypotonia Sleep apnea Paraparesis Hyperlordosis Clonus Short toe Abnormal lung morphology Abnormal form of the vertebral bodies Recurrent otitis media Tetraparesis Epidermal acanthosis Lumbar hyperlordosis Overgrowth Otitis media Hyperpigmentation of the skin Sleep disturbance Micromelia Lymphopenia Increased number of teeth Mesomelia Decreased body weight Abnormal leukocyte morphology Pectus excavatum Hepatosplenomegaly Facial palsy Carious teeth Genu valgum Neurodegeneration Recurrent fractures Ectodermal dysplasia Abnormality of epiphysis morphology Lymphedema Abnormality of the vertebral endplates Mandibular osteomyelitis Tooth abscess Elevated serum acid phosphatase Lumbar scoliosis Visual loss Cranial hyperostosis Hip osteoarthritis Fractures of the long bones Extramedullary hematopoiesis Generalized osteosclerosis Facial paralysis Abnormal cranial nerve morphology Bone pain Aseptic necrosis Rhinitis Osteomyelitis Hyperostosis Increased susceptibility to fractures Increased bone mineral density Inguinal hernia Prominent forehead Adrenal hypoplasia Dental malocclusion Cone-shaped epiphysis Hemangioma Short chin Narrow palate Aspiration pneumonia Overlapping fingers Achalasia Gingival overgrowth Microphallus Dental crowding Long eyelashes Broad thumb Limb undergrowth Nail dysplasia Macroglossia Recurrent infections Hypodontia Delayed eruption of teeth Small hand Downturned corners of mouth Wide nose Short palm Flat face Esophageal stricture Radial club hand Wide mouth Hypoplastic spleen Optic atrophy Blindness Immunodeficiency Tibial bowing Disproportionate short stature Ambiguous genitalia Apathy Delirium Abnormality of macular pigmentation Chronic hemolytic anemia Methylmalonic acidemia Atrophy of the spinal cord Hemolytic-uremic syndrome Right ventricular failure Gastritis Homocystinuria Methylmalonic aciduria Megaloblastic anemia Thromboembolism Disproportionate tall stature Ectopia lentis Decreased methylcobalamin Hemiplegia Slurred speech Atherosclerosis Abnormality of retinal pigmentation Anorexia Broad-based gait Mild proteinuria Psychosis Abnormality of extrapyramidal motor function Pigmentary retinopathy Memory impairment Aciduria Urinary incontinence Optic nerve dysplasia Urogenital fistula Hyperhomocystinemia Hepatic steatosis Retinal coloboma Hypoplasia of penis Chorioretinal atrophy Severe vision loss Premature birth Arnold-Chiari type I malformation Soft skin Hypocalcemia Abnormality of the vasculature Multiple renal cysts Elevated serum creatinine Hydrocele testis Respiratory tract infection Optic nerve coloboma Low-set, posteriorly rotated ears Polydactyly Decreased adenosylcobalamin High-frequency hearing impairment Pyelonephritis Platybasia Lens luxation Dysphagia Bilateral renal hypoplasia Thyroglossal cyst Cystathioninemia Diffuse hepatic steatosis Decreased methylmalonyl-CoA mutase activity Hypomethioninemia Cystathioninuria Vitamin B12 deficiency Decreased methionine synthase activity Metabolic acidosis Hematuria Neuroblastoma Thoracolumbar kyphosis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Small foramen magnum Iritis Cervical cord compression Hypopnea Obstructive lung disease Cervical myelopathy Central sleep apnea Neonatal short-limb short stature Chronic myelogenous leukemia Recurrent ear infections Lumbar kyphosis in infancy Paraplegia Hypoxemia Multiple epiphyseal dysplasia Decreased testicular size Central apnea Dysuria Upper airway obstruction Generalized joint laxity Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Hip contracture Myelitis Hypoglycemia Hemolytic anemia Mental deterioration Joint hypermobility Long face Scleral staphyloma Retinal degeneration Paresthesia Unsteady gait Renal malrotation Lower limb muscle weakness Malabsorption Congenital cataract Lethargy Morning glory anomaly Retinopathy Feeding difficulties in infancy Difficulty walking Diarrhea Macrotia High forehead Acidosis Gait ataxia Cerebral cortical atrophy Dementia Depressivity Orbital cyst Intellectual disability, severe Macular hyperpigmentation Tremor Recurrent pyelonephritis Muscular hypotonia Ureterovesical junction obstruction Abnormality of the preputium


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