Neuroblastoma, and Dehydration

Diseases related with Neuroblastoma and Dehydration

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


Top matches:

Low match EWING SARCOMA


Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about EWING SARCOMA

Low match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Low match OCULOCEREBRORENAL SYNDROME OF LOWE


Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.

OCULOCEREBRORENAL SYNDROME OF LOWE Is also known as oculocerebrorenal dystrophy|phosphatidylinositol 4,5-biphosphate 5-phosphatase deficiency|oculo-cerebro-renal dystrophy|oculo-cerebro-renal syndrome|lowe disease|ocrl1|ocrl|ocr|lowe syndrome|phosphatidylinositol 4,5-bisphosphate 5-phosphatase deficiency|l

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OCULOCEREBRORENAL SYNDROME OF LOWE

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS


Epidermolytic ichthyosis (EI) is a rare keratinopathic ichthyosis (KPI; see this term), that is characterized by a blistering phenotype at birth which progressively becomes hyperkeratotic.

AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS Is also known as bullous congenital ichthyosiform erythroderma of brock|epidermolytic ichthyosis|bie|bullous congenital ichthyosiform erythroderma|ehk|bullous erythroderma ichthyosiformis congenita of brocq|bcie|bullous ichthyosiform erythroderma|ichthyosis hystrix brocq

Related symptoms:

  • Growth delay
  • Hyperhidrosis
  • Hyperkeratosis
  • Weight loss
  • Erythema


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EPIDERMOLYTIC ICHTHYOSIS

Low match SOTOS SYNDROME 1; SOTOS1


SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

Low match BECKWITH-WIEDEMANN SYNDROME; BWS


Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match CYSTIC FIBROSIS


Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

Low match BURULI ULCER, SUSCEPTIBILITY TO


Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Low match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Top 5 symptoms//phenotypes associated to Neuroblastoma and Dehydration

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Neuroblastoma and Dehydration. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Seizures Edema Growth delay Abnormal heart morphology Abnormal facial shape Hypertelorism Intellectual disability, mild Hernia Nystagmus High palate Micrognathia Scoliosis Hypoplasia of dental enamel Short stature Gastroesophageal reflux Joint hypermobility Low-set, posteriorly rotated ears Pain Atrial septal defect Carcinoma Strabismus Cutis laxa Polyhydramnios Hypertension Pectus excavatum Nevus Full cheeks Inguinal hernia Posteriorly rotated ears Proptosis Hepatomegaly Cardiomyopathy Abdominal distention Intellectual disability, moderate Nephrocalcinosis Narrow palate Umbilical hernia Hypercalciuria Azoospermia Respiratory failure Abnormality of cardiovascular system morphology Short neck Long philtrum Ventricular septal defect Macrocephaly Ventriculomegaly Coarse facial features Leukemia Frontal bossing Lymphedema Feeding difficulties Respiratory insufficiency Cognitive impairment High, narrow palate Hearing impairment Overgrowth Failure to thrive Low-set ears Delayed speech and language development Motor delay Depressed nasal bridge Epicanthus Delayed puberty Downslanted palpebral fissures

Rare Symptoms - Less than 30% cases


Recurrent respiratory infections Constipation Short nose Arnold-Chiari type I malformation Sepsis Attention deficit hyperactivity disorder Schwannoma Irritability Feeding difficulties in infancy Aggressive behavior Wide mouth Neonatal hypotonia Hypoglycemia Respiratory distress Large hands Malabsorption Clumsiness Pneumothorax Epidermal acanthosis Hyperkeratosis Hyperhidrosis Patent ductus arteriosus Conductive hearing impairment Joint laxity Abnormality of the kidney Respiratory tract infection Hypermetropia Vesicoureteral reflux Ptosis Apraxia Pointed chin Genu valgum Accelerated skeletal maturation Abnormal dermatoglyphics Redundant skin Nephroblastoma Reduced number of teeth Abnormality of dental enamel Skin ulcer Amblyopia Nephrolithiasis Loose anagen hair Teratoma Abnormal bleeding Hematuria Joint hyperflexibility Postural instability Mandibular prognathia Thrombocytopenia Hypogonadism Neonatal hypoglycemia Vomiting Nonimmune hydrops fetalis Pleural effusion Leukocytosis Dandy-Walker malformation Dilatation Acute lymphoblastic leukemia Vitreomacular adhesion Wide intermamillary distance Abnormality of the skin Abdominal pain Tricuspid regurgitation Kyphoscoliosis Hypertrophic cardiomyopathy Webbed neck Rhabdomyosarcoma Microcephaly Cleft palate Renal insufficiency Postnatal growth retardation Pulmonic stenosis Sparse hair Upslanted palpebral fissure Congestive heart failure Arnold-Chiari malformation Microphthalmia Poor suck Large for gestational age Cataract Weight loss Fever Anemia Male infertility Abnormality of the dentition Hamartoma Failure to thrive in infancy Behavioral abnormality Macroglossia Myopia Dyskinesia Asthma Cor pulmonale Chronic obstructive pulmonary disease Nausea Cirrhosis Decreased antibody level in blood Infertility Abnormality of the pancreas Cough Scarring Chronic lung disease Rod-cone dystrophy Neoplasm of the pancreas Malnutrition Portal hypertension Intestinal obstruction Tachypnea Pancreatitis Recurrent pneumonia Emphysema Abnormality of the liver Headache Pulmonary fibrosis Sinusitis Exocrine pancreatic insufficiency Insulin resistance Steatorrhea Bronchitis Bronchiectasis Abnormal lung morphology Wheezing Clinodactyly Hemoptysis Clubbing Splenomegaly Immunodeficiency Elevated hepatic transaminase Cubitus valgus Primary amenorrhea Left ventricular hypertrophy Plagiocephaly Bicuspid aortic valve Multiple lentigines Pterygium Elevated alkaline phosphatase Patent foramen ovale Synovitis Shield chest Myelodysplasia Radial deviation of finger Optic disc hypoplasia Abnormality of the coagulation cascade Abnormality of color vision Restrictive cardiomyopathy Neurofibromas Cystic hygroma Atrial flutter Abnormality of the vertebral column Abnormality of blood and blood-forming tissues Drusen Malignant hyperthermia Gonadal dysgenesis Asymmetry of the thorax Lymphangioma Abnormal cardiac septum morphology Amenorrhea Broad forehead Diabetes mellitus Hypotrichosis Facial asymmetry Recurrent infections Bruising susceptibility Diarrhea Triangular face Postductal coarctation of the aorta Dental malocclusion Preductal coarctation of the aorta Nasogastric tube feeding Low posterior hairline Reduced factor XIII activity Gonadal neoplasm Coarctation of aorta Pectus excavatum of inferior sternum Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Ventricular hypertrophy Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Allergy Sleep disturbance Biliary cirrhosis Asymmetric septal hypertrophy Central apnea Lack of skin elasticity Abnormality of the testis Redundant neck skin Labial hypoplasia Deep palmar crease Abnormal mitral valve morphology Large forehead Broad philtrum Fasting hypoglycemia Hypoplasia of teeth Concave nail Hyperextensibility of the finger joints Broad femoral neck Abnormality of earlobe Verrucae Achilles tendon contracture Fetal distress Severe postnatal growth retardation Ulnar deviation of finger Generalized hyperpigmentation Tracheomalacia Central hypotonia Syringomyelia Soft skin Obstructive sleep apnea Microscopic hematuria Thick upper lip vermilion Thickened nuchal skin fold Fragile nails Megalencephaly Barrel-shaped chest Progeroid facial appearance Woolly hair Large earlobe Limited elbow movement Bronchomalacia Curly hair Macrocephaly at birth Deep-set nails Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Neonatal sepsis Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Enlarged cerebellum Frontal hirsutism Myofiber disarray Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Congenital neuroblastoma Thickened Achilles tendon Systolic heart murmur Vestibular Schwannoma Ganglioneuroblastoma Papilloma Bladder neoplasm Large face Thin nail Deep plantar creases Hematemesis Melena Triangular mouth Capillary malformation Abnormal pulmonary valve morphology Transitional cell carcinoma of the bladder Duodenal ulcer Ulnar deviation of the wrist Body odor Postprandial hyperglycemia Shyness Hypopnea Concentric hypertrophic cardiomyopathy Rhabdomyolysis Keratoconus Ileus Absent speech Abnormality of the skeletal system Talipes equinovarus Anteverted nares Hydrocephalus Myopathy Cerebral atrophy Arrhythmia Dysarthria Delayed skeletal maturation Pes cavus Severe short stature Osteoporosis Cerebral cortical atrophy Osteopenia Abnormality of the nervous system Dysphagia Muscular hypotonia Pectus carinatum Pancreatic adenocarcinoma Rectal prolapse Nasal polyposis Chronic infection Chronic pancreatitis Secretory diarrhea Obstructive lung disease Productive cough Meconium ileus Microscopic nephrocalcinosis Recurrent bronchopulmonary infections Obstructive azoospermia Absent vas deferens Elevated sweat chloride Biliary tract obstruction Cellular metachromasia Echogenic fetal bowel Apnea Arthrogryposis multiplex congenita Reduced subcutaneous adipose tissue Hyperextensible skin Short chin Abnormality of the fingernails Acanthosis nigricans Infantile muscular hypotonia Hemangioma Relative macrocephaly Laryngomalacia Pyloric stenosis Abnormality of the hair Aortic aneurysm Heart murmur Hyperglycemia Bilateral cryptorchidism Hypoplastic toenails Rocker bottom foot Neurodevelopmental delay Hoarse voice Cafe-au-lait spot Astigmatism Hip dysplasia Tachycardia Wide nose Thick vermilion border Ascites Tetraplegia Premature birth Growth hormone deficiency Eczema Hydrops fetalis Mitral valve prolapse Thick lower lip vermilion Atrial fibrillation Decreased body weight Long eyelashes Hyperpigmentation of the skin Wide anterior fontanel Brachydactyly Midface retrusion Sensorineural hearing impairment Osteoarthritis Abnormality of the voice Hypokalemia Deep philtrum Hypercholesterolemia Neoplasm of the skin Aminoaciduria Joint contracture of the hand Clonus Abnormality of epiphysis morphology Stereotypy Dental crowding Subcutaneous nodule Abnormality of the metaphysis Open mouth Sparse scalp hair Glomerulonephritis Fine hair Abnormality of the ribs Aciduria Increased serum lactate Recurrent fractures Delayed eruption of teeth Metabolic acidosis Everted lower lip vermilion Long face Carious teeth Congenital cataract Platyspondyly Hip dislocation Corneal opacity Rickets Self-injurious behavior Joint stiffness Multiple renal cysts Abnormality of the renal tubule Lacrimation abnormality Abnormal pupil morphology Buphthalmos Hyperphosphaturia Atelectasis Generalized hypopigmentation Renal tubular dysfunction Taurodontia Periodontitis Hyperaldosteronism Gingivitis Atypical scarring of skin Patellar dislocation Joint swelling Chronic otitis media Renal tubular acidosis Osteomalacia Glomerulopathy Abnormal joint morphology Hyperparathyroidism Pathologic fracture Congenital glaucoma Dysphasia Hypophosphatemia Open bite Diabetes insipidus Flat occiput Obsessive-compulsive behavior Hyponatremia Camptodactyly of finger Protruding ear Keloids Brachycephaly Abnormality of the face Hypertrichosis Short palpebral fissure Febrile seizures Microcornea Flat face Severe global developmental delay Microtia Retinopathy Blepharophimosis Abnormality of the pinna Telecanthus High forehead Narrow mouth Hypospadias Generalized hirsutism Hypoplasia of the corpus callosum Wide nasal bridge Neoplasm of the peripheral nervous system Peripheral neuroepithelioma Ewing sarcoma Primitive neuroectodermal tumor Burkitt lymphoma Chronic myelogenous leukemia Meningioma Myeloid leukemia Sarcoma Lymphoma Paraplegia Paralysis Thickened skin Scrotal hypoplasia Proteinuria Localized neuroblastoma Anxiety Arthritis Deeply set eye EEG abnormality Thin upper lip vermilion Acidosis Reduced visual acuity Glaucoma Hyporeflexia Areflexia Depressivity Kyphosis Blindness Visual impairment Increased number of skin folds Optic nerve hypoplasia Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Periorbital fullness Lower limb asymmetry External ear malformation Irregular hyperpigmentation Hypoplastic nipples Cerebellar vermis atrophy Abnormality of the musculature Long fingers Overlapping toe Overfolded helix Cheilitis Renal Fanconi syndrome Congenital mesoblastic nephroma Postaxial polydactyly Congenital hypothyroidism Broad palm Tibial bowing Abnormality of the ear Prominent occiput Prominent supraorbital ridges Polycystic kidney dysplasia Growth abnormality Abnormality of the outer ear Large fontanelles Recurrent urinary tract infections Omphalocele Cardiomegaly Renal cyst Pulmonary hypoplasia Aniridia Hydronephrosis Hypothyroidism Polydactyly Hyperactivity Myoclonus Intrauterine growth retardation Abnormality of the cerebral ventricles Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Expressive language delay Hyperplasia of the maxilla Hamartomatous polyposis Overbite Prominent metopic ridge Protuberant abdomen Periventricular leukomalacia Renal cortical cysts Pancreatoblastoma Fibrous hamartoma Pancreatic hyperplasia Overgrowth of external genitalia Adrenocortical cytomegaly Nephroblastomatosis Thymus hyperplasia Abdominal mass Opsoclonus Posterior helix pit Ganglioneuroma Adrenocortical carcinoma Flank pain Prune belly Embryonal neoplasm Foot polydactyly Hepatoblastoma Abdominal wall defect Diaphragmatic eventration Unilateral cryptorchidism Abnormality of the tongue Pancreatic cysts Visceromegaly Hypoplasia of the thymus Gonadoblastoma Hemihypertrophy Diastasis recti Ketosis Nevus flammeus Enlarged kidney Abnormal glucose tolerance Oxycephaly Urogenital fistula Wrist swelling Skin vesicle Erythroderma Scaling skin Recurrent skin infections Palmoplantar hyperkeratosis Cutaneous photosensitivity Abnormal blistering of the skin Ectodermal dysplasia Palmoplantar keratoderma Ichthyosis Confusion Erythema Dense posterior cortical cataract Hypoammonemia Lentiglobus Congenital ichthyosiform erythroderma Abnormality of dentin Bicarbonaturia Elevated maternal serum alpha-fetoprotein Odontogenic neoplasm Finger swelling Elevated amniotic fluid alpha-fetoprotein Periventricular cysts Benign neoplasm of the central nervous system Elevated serum acid phosphatase Abnormality of calcium-phosphate metabolism Chorioretinal dysplasia Oligosacchariduria Vitamin D deficiency Proximal renal tubular acidosis Fragile skin Poor appetite Cavum septum pellucidum Sloping forehead Advanced eruption of teeth Long foot Enlarged cisterna magna High anterior hairline Poor coordination Prolonged neonatal jaundice Partial agenesis of the corpus callosum Agenesis of permanent teeth Precocious puberty Narrow face Abnormal vertebral morphology Tall stature Heterotopia Small nail Renal agenesis Heat intolerance Hyperreflexia Disseminated intravascular coagulation Generalized hyperkeratosis Congenital bullous ichthyosiform erythroderma Hypernatremia Hypernatremic dehydration Conjunctival hamartoma Optic atrophy Otitis media Prominent forehead Macrotia Pes planus Jaundice Dolichocephaly Hypodontia Increased corneal curvature



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Dandy-Walker malformation, related diseases and genetic alterations Autoimmunity and Dandy-Walker malformation, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more