Hydrocephalus, and Eosinophilia

Diseases related with Hydrocephalus and Eosinophilia

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

Top matches:

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Medium match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Other less relevant matches:

CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 Is also known as rcm

Related symptoms:

  • Muscle weakness
  • Ventricular septal defect
  • Ventriculomegaly
  • Cardiomyopathy
  • Edema


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1

Zur Stadt et al. (2005) summarized the clinical features of hemophagocytic lymphohistiocytosis (HLH), a rare autosomal recessive disorder characterized by massive infiltration of several organs by activated lymphocytes and macrophages. The clinical features of the disease include fever, hepatosplenomegaly, cytopenia, and less frequently central nervous system involvement. In FHL, the familial form of the disease, first episodes occur mostly during infancy, with a rapidly fatal outcome if untreated. Diagnostic criteria also include low fibrinogen and high triglyceride and ferritin levels. Chemoimmunotherapy based on corticosteroids, epipodophyllotoxins, and cyclosporin succeeds in controlling the disease in the majority of patients, although remission is rarely obtained (Henter et al., 2002). Most patients suffer an early death unless they are treated by hematopoietic stem cell transplantation (Durken et al., 1999). Genetic Heterogeneity of Familial Hemophagocytic LymphohistiocytosisFamilial hemophagocytic lymphohistiocytosis exhibits genetic heterogeneity. In some families, familial hemophagocytic lymphohistiocytosis has been found to be linked to chromosome 9q (HPLH1, FHL1). FHL2 (OMIM ) is caused by mutation in the PRF1 gene (OMIM ) on chromosome 10q22; FHL3 (OMIM ) is caused by mutation in the UNC13D gene (OMIM ) on chromosome 17q25; FHL4 (OMIM ) is caused by mutation in the syntaxin-11 gene (STX11 ) on chromosome 6q24; and FHL5 (OMIM ) is caused by mutation in the syntaxin-binding protein-2 (STXBP2 ), which is an interaction partner of STX11, on chromosome 19p13.Furthermore, before the identification of mutations in the RAG1 (OMIM ) and RAG2 (OMIM ) genes, both of which map to 11p, Omenn syndrome (familial reticuloendotheliosis with eosinophilia; {603554}) was not thought to be clearly distinct from other reported cases of hemophagocytic lymphohistiocytosis.

HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1 Is also known as hemophagocytic reticulosis, familial|hlh1|hemophagocytic lymphohistiocytosis, familial|erythrophagocytic lymphohistiocytosis, familial|reticulosis, familial histiocytic|hplh1|fhl|fhlh|hplh|fel

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 1; FHL1

Low match SARCOIDOSIS

Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

Neonatal glycine encephalopathy is a frequent, usually severe form of glycine encephalopathy (GE; see this term) characterized by coma, apnea, hypotonia, seizure and myoclonic jerks in the neonatal period, and subsequent developmental delay.

NEONATAL GLYCINE ENCEPHALOPATHY Is also known as classic glycine encephalopathy|neonatal nkh|nkh|neonatal non-ketotic hyperglycinemia|hyperglycinemia, nonketotic

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL GLYCINE ENCEPHALOPATHY

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

GRISCELLI SYNDROME, TYPE 2; GS2 Is also known as partial albinism and immunodeficiency syndrome|griscelli syndrome with hemophagocytic syndrome|paid syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GRISCELLI SYNDROME, TYPE 2; GS2

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 2; AGS2

Top 5 symptoms//phenotypes associated to Hydrocephalus and Eosinophilia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Leukopenia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Anemia Hepatomegaly Splenomegaly Intellectual disability Lymphadenopathy Edema Fever Pancytopenia Hepatosplenomegaly Pneumonia Encephalopathy Microcephaly Apnea Failure to thrive Hyperreflexia Dyspnea Hypertonia Bronchiectasis Ventriculomegaly Increased antibody level in blood Spasticity Immunodeficiency Sepsis Muscular hypotonia Low-set ears Recurrent infections Ventricular septal defect Hypertelorism Ataxia Growth delay

Rare Symptoms - Less than 30% cases

Coma Lymphocytosis Lethargy Pruritus Muscle stiffness Leukodystrophy Peripheral demyelination Cerebral calcification Neutropenia Hypopigmentation of the skin Severe global developmental delay Hemolytic anemia Albinism Elevated hepatic transaminase Combined immunodeficiency Pulmonary infiltrates Cerebral atrophy Increased CSF protein Dystonia Generalized edema Partial albinism Feeding difficulties Epicanthus Irritability Hepatic failure Osteolysis Syncope Ascites Dilatation Generalized lymphadenopathy Abnormality of cardiovascular system physiology Histiocytosis Skin nodule Communicating hydrocephalus Abnormal eyebrow morphology Episodic fever Elevated erythrocyte sedimentation rate Aspiration Anteverted nares Hypertriglyceridemia Cardiomegaly Flat face Jaundice Malabsorption Optic atrophy Vomiting Abnormality of the nervous system Hypothyroidism Hemophagocytosis Alopecia Intellectual disability, mild Hyperpigmentation of the skin Cellular immunodeficiency Proptosis Posteriorly rotated ears Atrial septal defect Clinodactyly Patent ductus arteriosus Progressive neurologic deterioration Decreased antibody level in blood Abnormality of neutrophils Neurodegeneration Wide nasal bridge Abnormality of the kidney Brachydactyly Cleft upper lip Convex nasal ridge Hypospadias Cranial nerve paralysis Malar flattening Micrognathia Glaucoma Flexion contracture Elbow flexion contracture Cryptorchidism Encephalocele Cataract Blue sclerae Paralysis Pleural effusion Silver-gray hair Chorioretinal atrophy Blurred vision Pulmonary fibrosis Ventricular tachycardia Hypercalciuria Emphysema Diabetes insipidus Epiphora Hypercalcemia Portal hypertension Inflammation of the large intestine Pill-rolling tremor Interstitial pulmonary abnormality Tubulointerstitial nephritis Abnormality of lipid metabolism Pneumothorax Anterior synechiae of the anterior chamber Night sweats Bone cyst Abnormal eyelash morphology Immune dysregulation Macular edema Upper airway obstruction Abnormality of the gastrointestinal tract Edema of the lower limbs Abnormality of the musculature Hypothermia Heart block Joint swelling White hair Uveitis Optic neuropathy Reduced delayed hypersensitivity Hemoptysis Hyperuricemia Hyperthyroidism Cutaneous anergy Keratoconjunctivitis sicca Sudden cardiac death Nephrocalcinosis Lipogranulomatosis Congestive heart failure Blindness Respiratory distress Fatigue Skeletal muscle atrophy Peripheral neuropathy Visual impairment Pain Abnormal natural killer cell physiology Plasmacytosis Paraplegia Basal ganglia calcification Polyneuritis CSF pleocytosis Hypofibrinogenemia Increased VLDL cholesterol concentration T-cell lymphoma Granulocytopenia Knee clonus Increased total bilirubin Clonus Spastic paraplegia Decreased liver function Cough Anorexia Nephrolithiasis Subcutaneous nodule Abnormal lung morphology Palpitations Abnormality of the pleura Melanin pigment aggregation in hair shafts Chest pain Papule Scarring Renal insufficiency Erythema Facial palsy Arthritis Proximal muscle weakness Photophobia Accumulation of melanosomes in melanocytes Babinski sign Weight loss Arrhythmia Headache Iris hypopigmentation Skin plaque Vitreous hemorrhage Chorea Macroglossia Otitis media Sinusitis Lymphopenia Recurrent pneumonia Malnutrition Bronchitis Protruding tongue Aciduria Shawl scrotum Agammaglobulinemia Umbilical hernia Chronic bronchitis Abnormality of chromosome stability Decrease in T cell count Attention deficit hyperactivity disorder Autistic behavior Impaired T cell function Intellectual disability, moderate Aggressive behavior Nystagmus Rigidity Respiratory tract infection High forehead Nausea and vomiting Infantile spasms Episodic ketoacidosis Nonketotic hyperglycinemia Delirium Posterior fossa cyst Hyperglycinuria Vertical supranuclear gaze palsy Hyperglycinemia Ketoacidosis Restlessness Weak cry Spastic diplegia Intellectual disability, profound Impulsivity Poor suck Abnormal facial shape Depressed nasal bridge Macrocephaly Diarrhea Short nose Limb ataxia Choreoathetosis Recurrent respiratory infections Hypsarrhythmia Neonatal hypotonia Abnormality of movement Chylothorax Abnormal salivary gland morphology Enlargement of parotid gland Posterior vitreous detachment Abnormality of skin morphology Reduced tendon reflexes Abnormal reproductive system morphology Vitritis Vitreous floaters Abnormal conjunctiva morphology Hypopigmented skin patches Iridocyclitis Pyloric stenosis Non-caseating epithelioid cell granulomatosis Anterior uveitis Premature graying of hair Dacryocystitis Chorioretinitis Petechiae Abnormality of the adrenal glands Abnormality of the lymph nodes Recurrent singultus Erythema nodosum Abnormality of the cerebrospinal fluid Cystoid macular edema Abnormality of T cell physiology Abnormal liver parenchyma morphology Acidosis Bone marrow hypocellularity Autism Hyperactivity Abnormal cerebellum morphology Myoclonus Agenesis of corpus callosum Hepatitis Visual loss Behavioral abnormality Intellectual disability, severe Hypoplasia of the corpus callosum Hypertension Parotitis Motor delay Abnormal trabecular meshwork morphology Pulmonary granulomatosis Vitreous snowballs Enlarged lacrimal glands Recurrent bacterial infections Maculopapular exanthema Hyperlipidemia Abnormality of the nasal mucosa Increased T cell count Abnormal cardiac ventricular function Hyporeflexia Myofibrillar myopathy Increased LDL cholesterol concentration Aplasia of the ulna Intrauterine growth retardation Premature separation of centromeric heterochromatin Midface capillary hemangioma Enlarged labia minora Tetraphocomelia Bilateral radial aplasia Intermittent thrombocytopenia Frontal encephalocele Absent earlobe Talipes equinovalgus Triangular mouth Respiratory insufficiency Bilateral renal agenesis Accessory spleen Craniofacial dysostosis Narrow naris Wrist flexion contracture Hydranencephaly Phocomelia Hand oligodactyly Biliary tract abnormality Long penis Tremor Cerebellar atrophy Bicornuate uterus Severe short stature Retinopathy Abnormal cardiac septum morphology Camptodactyly Low-set, posteriorly rotated ears Conductive hearing impairment Pes planus Micropenis Hyperkeratosis Diabetes mellitus Hypogonadism Delayed skeletal maturation Progressive microcephaly Abnormal heart morphology Hernia Frontal bossing Ptosis Sensorineural hearing impairment Hearing impairment CSF lymphocytic pleiocytosis Facial paralysis Atrophy/Degeneration affecting the brainstem Bradycardia Subvalvular aortic stenosis Eyelid coloboma Hypotrichosis Cleft lip Underdeveloped nasal alae Renal cyst Talipes Corneal opacity Prominent nasal bridge Short philtrum Coloboma Sparse hair Craniosynostosis Postnatal growth retardation Skeletal dysplasia Oligohydramnios Retrognathia Polyhydramnios Brachycephaly Microphthalmia Syndactyly Short neck Talipes equinovarus Downslanted palpebral fissures High palate Cleft palate Renal agenesis Abnormality of the genital system Bilateral cleft lip and palate Short femoral neck Low hanging columella Bilateral cleft lip Upper limb undergrowth Shallow orbits Severe intrauterine growth retardation Ankle contracture Absent radius Fibular hypoplasia Oligodactyly Cystic hygroma Anonychia Recurrent urinary tract infections Bilateral talipes equinovarus Radial deviation of finger Clitoral hypertrophy Polycystic kidney dysplasia Melanoma Abnormality of the metacarpal bones Opacification of the corneal stroma Knee flexion contracture Horseshoe kidney Cafe-au-lait spot Pectus carinatum Delayed puberty Prolonged prothrombin time Heart murmur Abnormal ventricular filling Histiocytoid cardiomyopathy Abnormal left ventricle morphology Abnormality of the mitochondrion Skeletal myopathy Endocardial fibroelastosis Pulmonary edema Abnormal myocardium morphology Restrictive cardiomyopathy Myocardial fibrosis Atrioventricular block Abnormality of the pulmonary veins Inability to walk Abnormality of metabolism/homeostasis Myopathy Cardiomyopathy Muscle weakness Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Abnormal cardiac atrium morphology Abnormal mitochondrial number Snoring Encephalitis Decreased HDL cholesterol concentration Prolonged partial thromboplastin time Hypoproteinemia Acute leukemia Increased serum ferritin Severe combined immunodeficiency Abnormality of the coagulation cascade Hyponatremia Hemiplegia Hypoalbuminemia Increased intracranial pressure Neoplasm Purpura Hyperbilirubinemia Meningitis Lymphoma Gliosis Tetraplegia Confusion Leukemia Skin rash Abnormality of the liver Stiff skin Episcleritis Abnormality of the foot Epidermal acanthosis Azoospermia Plagiocephaly Type I diabetes mellitus Hypergonadotropic hypogonadism Gynecomastia Gingival overgrowth Telangiectasia Primary amenorrhea Hypertrichosis Epistaxis Bilateral sensorineural hearing impairment Lipodystrophy Mitral valve prolapse Overgrowth Amenorrhea Decreased testicular size Wide intermamillary distance Growth hormone deficiency Full cheeks Recurrent fractures Polyneuropathy Ichthyosis Sleep apnea Psoriasiform dermatitis Panniculitis Decreased serum testosterone level Facial telangiectasia Myelofibrosis Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Chronic rhinitis Reticulocytopenia Nasal obstruction Recurrent pharyngitis Varicose veins Stridor Aspiration pneumonia Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Polycythemia Scleroderma Lipoatrophy Microcytic anemia Hallux valgus Leukocytosis Hyperglycemia Chronic CSF lymphocytosis


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