Hydrocephalus, and Recurrent infections

Diseases related with Hydrocephalus and Recurrent infections

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


Top matches:

Low match SPORADIC CREUTZFELDT-JAKOB DISEASE


Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Low match PRIMARY CILIARY DYSKINESIA


Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous, primarily respiratory disorder characterized by chronic upper and lower respiratory tract disease. Approximately half of PCD patients have an organ laterality defect (situs inversus totalis or situs ambiguus/heterotaxy; see these terms).

PRIMARY CILIARY DYSKINESIA Is also known as ics|polynesian bronchiectasis|ciliary dyskinesia, primary, 1, with or without situs inversus|pcd|immotile cilia syndrome

Related symptoms:

  • Hearing impairment
  • Ventriculomegaly
  • Respiratory distress
  • Hydrocephalus
  • Headache


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY CILIARY DYSKINESIA

Low match RENAL COLOBOMA SYNDROME


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

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Other less relevant matches:

Low match LUSCAN-LUMISH SYNDROME; LLS


Luscan-Lumish syndrome is characterized by macrocephaly, intellectual disability, speech delay, low sociability, and behavioral problems. More variable features include postnatal overgrowth, obesity, advanced carpal ossification, developmental delay, and seizures (Luscan et al., 2014; Lumish et al., 2015)

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LUSCAN-LUMISH SYNDROME; LLS

Low match LYMPHANGIOLEIOMYOMATOSIS


Lymphangioleiomyomatosis (LAM) is a multiple cystic lung disease characterized by progressive cystic destruction of the lung and lymphatic abnormalities, frequently associated with renal angiomyolipomas (AMLs). LAM occurs either sporadically or as a manifestation of tuberous sclerosis complex (TSC).

LYMPHANGIOLEIOMYOMATOSIS Is also known as lam|lymphangiomyomatosis

Related symptoms:

  • Seizures
  • Pain
  • Cognitive impairment
  • Fever
  • Optic atrophy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about LYMPHANGIOLEIOMYOMATOSIS

Low match ICF SYNDROME


The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Low match LIGNEOUS CONJUNCTIVITIS


Ligneous conjunctivitis (LC) is a rare form of chronic conjunctivitis characterised by the recurrent formation of pseudomembranous lesions most commonly on the palpebral surfaces. It is most frequently reported as a clinical manifestation of severe homozygous or compound-heterozygous hypoplasminogenemia (see this term).

LIGNEOUS CONJUNCTIVITIS Is also known as conjunctivitis lignosa

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Macrocephaly
  • Hydrocephalus
  • Blindness


SOURCES: ORPHANET MENDELIAN

More info about LIGNEOUS CONJUNCTIVITIS

Low match PAPILLOMA OF CHOROID PLEXUS; CPP


Choroid plexus tumors are of neuroectodermal origin and range from benign choroid plexus papillomas (CPPs) to malignant choroid carcinomas (CPCs). These rare tumors generally occur in childhood, but have also been reported in adults. Patients typically present with signs and symptoms of increased intracranial pressure including headache, hydrocephalus, papilledema, nausea, vomiting, cranial nerve deficits, gait impairment, and seizures (summary by Safaee et al., 2013).

PAPILLOMA OF CHOROID PLEXUS; CPP Is also known as choroid plexus papilloma

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about PAPILLOMA OF CHOROID PLEXUS; CPP

Low match CRANIOPHARYNGIOMA


Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

Low match ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2


The Antley-Bixler syndrome (ABS) is an exceptionally rare craniosynostosis syndrome characterized by radiohumeral synostosis present from the perinatal period. There is a wide spectrum of anomalies seen in ABS, including midface hypoplasia, choanal stenosis or atresia, and multiple joint contractures. Mortality has been reported to be as high as 80% in the neonatal period, primarily due to airway compromise, and prognosis improves with increasing age (summary by McGlaughlin et al., 2010).

ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2 Is also known as multisynostotic osteodysgenesis with long bone fractures|osteodysgenesis, multisynostotic, with fractures|trapezoidocephaly-synostosis syndrome

Related symptoms:

  • Intellectual disability
  • Flexion contracture
  • Depressed nasal bridge
  • Frontal bossing
  • Hydrocephalus


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANTLEY-BIXLER SYNDROME WITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Headache Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


High forehead Respiratory failure Recurrent otitis media Confusion Behavioral abnormality Short stature Macrocephaly Respiratory tract infection Pneumonia Atrial septal defect Malar flattening Hearing impairment Anxiety

Rare Symptoms - Less than 30% cases


Bronchitis Optic atrophy Sinusitis Bronchiectasis Communicating hydrocephalus Arnold-Chiari type I malformation Cough Respiratory distress Ventriculomegaly Abnormal lung morphology Failure to thrive Obesity Midface retrusion Nausea Nephritis Multiple renal cysts Abnormality of the genitourinary system Sleep apnea Increased intracranial pressure Nephrolithiasis Chronic bronchitis Vomiting Papilledema Choanal stenosis Neoplasm Hydronephrosis Malnutrition Polyphagia Otitis media Recurrent pneumonia Fatigue Visual impairment Hyperreflexia Blindness Depressivity Reduced visual acuity Hypertelorism Abnormal facial shape Cryptorchidism Myocardial infarction Low-set ears Neurodegeneration Gliosis Depressed nasal bridge Apnea Cataract Visual field defect Macroglossia Chylopericardium Recurrent pharyngitis Poor wound healing Keratoconjunctivitis Duodenal ulcer Gastrointestinal inflammation Abnormality of the gallbladder Abnormality of the mediastinum Abnormality of fontanelles Chronic irritative conjunctivitis Cervicitis Vaginitis Feeding difficulties Abnormality of the larynx Abnormality of the skeletal system Pulmonary lymphangiomyomatosis Talipes equinovarus Cystic lung disease Ungual fibroma Sepsis Retinal hamartoma Decreased antibody level in blood Renal angiomyolipoma Protruding tongue Bronchiolitis obliterans Micropenis Lymphopenia Shagreen patch Stomatitis Flat face Hypospadias Recurrent upper respiratory tract infections Immunodeficiency Short nose Decrease in T cell count Abnormality of neutrophils Impaired T cell function Cerebellar hypoplasia Papule Dandy-Walker malformation Gingival overgrowth Diarrhea Anteverted nares Conjunctivitis Abnormality of vision Epiphora Hypercoagulability Epicanthus Abnormality of chromosome stability Premature loss of teeth Cellular immunodeficiency Gingivitis Anemia Umbilical hernia Combined immunodeficiency Malabsorption Recurrent bronchitis Agammaglobulinemia Shawl scrotum Micrognathia Periodontitis Arrhythmia Carcinoma Frontal bossing Arachnodactyly Narrow chest Craniosynostosis Abnormality of the pinna Camptodactyly Proptosis Brachycephaly Long philtrum Flexion contracture Choanal atresia Abnormality of the frontal bone Abnormality of the nasal bone Abnormal hypothalamus morphology Neoplasm of the anterior pituitary Intracranial cystic lesion Abnormal visual field test Craniopharyngioma Progressive visual field defects Progressive neurologic deterioration Wide anterior fontanel Slow decrease in visual acuity Vaginal atresia Bicoronal synostosis Pear-shaped nose Narrow pelvis bone Narrow iliac wings Ulnar bowing Humeroradial synostosis Lambdoidal craniosynostosis Abnormal renal morphology Upper airway obstruction Radioulnar synostosis Hypoplastic labia majora Stenosis of the external auditory canal Coronal craniosynostosis Esophageal atresia Slender finger Femoral bowing Multiple joint contractures Rocker bottom foot Enlarged pituitary gland Bitemporal hemianopia Delayed eruption of teeth Growth delay Nausea and vomiting Lethargy Postnatal growth retardation Hypoglycemia Hypothyroidism Hypogonadism Constipation Abnormality of the lymphatic system Choroid plexus carcinoma Vertigo Choroid plexus papilloma Papilloma Osteosarcoma Broad ribs Broad neck Upper limb undergrowth Loss of consciousness Hypertrichosis Delayed puberty Sleep disturbance Sudden loss of visual acuity Orthostatic hypotension Central adrenal insufficiency Central diabetes insipidus Cerebral ischemia Pituitary hypothyroidism Excessive daytime somnolence Prolactin excess Proportionate short stature Hypopituitarism Impotence Coma Diabetes insipidus Increased susceptibility to fractures Hypogonadotrophic hypogonadism Increased body weight Type II diabetes mellitus Cerebral calcification Amenorrhea Hypotension Abnormal urinary color Ataxia Chylothorax Asplenia Immotile cilia Nasal polyposis Chronic rhinitis Abnormal cornea morphology Abdominal situs inversus Nasal obstruction Duodenal atresia Polysplenia Crackles Chronic sinusitis Recurrent sinusitis Male infertility Ciliary dyskinesia Dextrocardia Neonatal respiratory distress Chronic otitis media Anosmia Absent frontal sinuses Abnormal respiratory motile cilium morphology Dyskinesia Joint laxity Vesicoureteral reflux Retinal detachment Nephropathy Stage 5 chronic kidney disease Joint hyperflexibility Coloboma Abnormality of the kidney Proteinuria Nystagmus Glaucoma Microphthalmia Renal insufficiency Edema Myopia Hypertension Sensorineural hearing impairment Strabismus Situs inversus totalis Infertility Renal hypoplasia Mental deterioration Neuronal loss in central nervous system Memory impairment Abnormal cerebellum morphology Unsteady gait Abnormal pyramidal sign Paralysis Irritability Rigidity Choreoathetosis Gait ataxia Myoclonus Dementia Encephalopathy Myopathy Tremor Peripheral neuropathy Spasticity Hemiparesis Hallucinations Conductive hearing impairment Visual hallucinations Rod-cone dystrophy Hirano bodies Extrapyramidal muscular rigidity Loss of facial expression Normal pressure hydrocephalus Dysesthesia Supranuclear gaze palsy Delusions Cerebral visual impairment Increased CSF protein Muscle fibrillation Blurred vision Aphasia Personality changes Apathy Language impairment Truncal ataxia Progressive visual loss Abnormality of the genital system Bronchiolitis High anterior hairline Cognitive impairment Pain Progressive macrocephaly Advanced ossification of carpal bones Shyness Menstrual irregularities Long foot Syringomyelia Abdominal pain Long nose Large hands Slurred speech Polycystic ovaries Arnold-Chiari malformation Pointed chin Overgrowth Hirsutism Fever Dyspnea Generalized tonic-clonic seizures Restrictive ventilatory defect Pneumothorax Abnormality of female internal genitalia Atelectasis Renal neoplasm Pulmonary infiltrates Hemoptysis Macule Emphysema Lymphadenopathy Nephroblastoma Melanoma Lymphedema Gastrointestinal hemorrhage Chest pain Ascites Hematuria Abnormality of skin pigmentation Long face Attention deficit hyperactivity disorder Renal dysplasia Elevated serum creatinine Platybasia Pyelonephritis Ureteropelvic junction obstruction High-frequency hearing impairment Retinal coloboma Optic nerve coloboma Hydrocele testis Abnormality of the vasculature Bilateral renal hypoplasia Soft skin Severe vision loss Chorioretinal atrophy Hyperextensible skin Chronic kidney disease Macular degeneration Multicystic kidney dysplasia Horseshoe kidney Lens luxation Mild proteinuria Autistic behavior Downslanted palpebral fissures Aggressive behavior Mandibular prognathia Autism Hyperactivity Prominent forehead Absent speech Dilatation Delayed speech and language development Optic nerve dysplasia Generalized hypotonia Ureterovesical junction obstruction Recurrent pyelonephritis Macular hyperpigmentation Orbital cyst Morning glory anomaly Renal malrotation Scleral staphyloma Fused labia minora



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