Neuroblastoma, and Renal dysplasia

Diseases related with Neuroblastoma and Renal dysplasia

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


Top matches:

Medium match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Medium match PALLISTER-HALL SYNDROME; PHS


Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).

PALLISTER-HALL SYNDROME; PHS Is also known as hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about PALLISTER-HALL SYNDROME; PHS

Medium match HYPOTHALAMIC HAMARTOMAS


Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

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Other less relevant matches:

Low match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Low match OROFACIODIGITAL SYNDROME TYPE 6


Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Low match PALLISTER-HALL SYNDROME


Pallister-Hall syndrome (PHS), a pleiotropic autosomal dominant malformative disorder, is characterized by hypothalamic hamartoma, pituitary dysfunction, bifid epiglottis, polydactyly, and, more rarely, renal abnormalities and genitourinary malformations.

PALLISTER-HALL SYNDROME Is also known as hypothalamic hamartoblastoma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about PALLISTER-HALL SYNDROME

Low match CONGENITAL HYDRONEPHROSIS


Congenital hydronephrosis is a renal urinary disease characterized by distension and dilation of the renal pelvis and calyces secondary to various congenital obstructive malformations of the kidneys and urinary tract that can evolve to renal atrophy.

CONGENITAL HYDRONEPHROSIS Is also known as pujo|upjo|pelviureteric junction obstruction|multicystic renal dysplasia, bilateral|hydronephrosis due to pujo|mcrd|ureteropelvic junction obstruction

Related symptoms:

  • Pain
  • Renal insufficiency
  • Polyhydramnios
  • Hydronephrosis
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL HYDRONEPHROSIS

Low match TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME


Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

Low match DIAPHANOSPONDYLODYSOSTOSIS


Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIAPHANOSPONDYLODYSOSTOSIS

Low match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Top 5 symptoms//phenotypes associated to Neuroblastoma and Renal dysplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Short nose Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge Abnormal heart morphology Inguinal hernia Epicanthus Postaxial hand polydactyly Renal cyst Seizures Muscular hypotonia Abnormal facial shape Micrognathia Postaxial polydactyly Micropenis Toe syndactyly Pulmonary hypoplasia Brachydactyly Polydactyly Abnormality of cardiovascular system morphology Hypothalamic hamartoma Enlarged kidney Generalized hypotonia Neoplasm Cryptorchidism Downslanted palpebral fissures Ventricular septal defect Microglossia Bifid uvula Hydronephrosis Cleft lip Low-set, posteriorly rotated ears Small nail Hamartoma Respiratory failure Hepatomegaly Abnormal lung lobation Ataxia Mesoaxial polydactyly Oligohydramnios Cleft upper lip Abnormality of the kidney Multicystic kidney dysplasia Rib fusion Depressed nasal ridge Hip dislocation Cystic renal dysplasia Polyhydramnios Intrauterine growth retardation Renal agenesis Low-set ears Hemivertebrae Short neck Anteverted nares Syndactyly Talipes equinovarus Hernia Short stature Hypospadias Abnormality of the genital system Patent ductus arteriosus Respiratory insufficiency Nail dysplasia Renal hypoplasia Tremor Hydroureter Large for gestational age Strabismus Anal atresia

Rare Symptoms - Less than 30% cases


Limb undergrowth Decreased testicular size Choanal atresia Microphthalmia Microtia Respiratory tract infection Dyspnea Protuberant abdomen Posteriorly rotated ears Behavioral abnormality Feeding difficulties Ptosis Growth delay Nephroblastomatosis Broad toe Polysplenia Microretrognathia Accessory oral frenulum Holoprosencephaly Midline facial capillary hemangioma Nystagmus Abnormal corpus callosum morphology Polycystic kidney dysplasia Edema Respiratory distress Cerebellar hypoplasia Gait disturbance Fever Spasticity Pain Failure to thrive Talipes Micromelia Skeletal dysplasia Bifid epiglottis Scrotal hypoplasia Oligodactyly Atresia of the external auditory canal Precocious puberty Bilateral cryptorchidism Ectopic kidney Natal tooth Hypopituitarism Adrenal hypoplasia Mesoaxial hand polydactyly Trigonocephaly Short 4th metacarpal Panhypopituitarism Hydrometrocolpos Radial head subluxation Laryngeal cleft Y-shaped metacarpals Abnormality of the pinna Agenesis of corpus callosum Broad nasal tip Congenital cataract Cataract Overgrowth Abnormality of the skeletal system Vertebral segmentation defect Thick vermilion border Nephroblastoma Hydrocephalus Macroglossia Intestinal malrotation Intellectual disability, severe Cardiac arrest Hearing impairment Cardiomyopathy Webbed neck Tall stature Broad thumb Upslanted palpebral fissure Omphalocele Cerebellar vermis hypoplasia Abnormality of the ribs Atrial septal defect Dandy-Walker malformation Arrhythmia Hypoglycemia Umbilical hernia Overlapping toe Preaxial foot polydactyly Arrhinencephaly Secondary growth hormone deficiency Thyroid hypoplasia Bilateral renal agenesis Bilateral postaxial polydactyly Meningocele Short femur Abnormal oral frenulum morphology Central adrenal insufficiency Osteochondroma Abnormal prolactin level Abnormal basal ganglia MRI signal intensity Recurrent upper and lower respiratory tract infections Foot polydactyly Facial grimacing Lobulated tongue Atrioventricular canal defect Central Y-shaped metacarpal Primary adrenal insufficiency Unilateral renal agenesis Distal arthrogryposis Coarctation of aorta Ambiguous genitalia Hypertension Scaphocephaly Radial bowing Midline notch of upper alveolar ridge Gonadotropin deficiency Occipital meningocele Pituitary hypothyroidism Hypoplasia of olfactory tract Bulimia Adrenocorticotropic hormone deficiency Episodic tachypnea Tongue nodules Hamartoma of tongue Wide nasal bridge Biparietal narrowing Reduced protein C activity Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Elevated plasma acylcarnitine levels Frontal bossing Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia High palate Dilatation Partial agenesis of the corpus callosum Finger clinodactyly Tibial bowing Molar tooth sign on MRI Abnormality of neuronal migration Preaxial hand polydactyly Radial deviation of finger Hand polydactyly Preaxial polydactyly Renal hypoplasia/aplasia Tachypnea Aplasia/Hypoplasia of the corpus callosum Oculomotor apraxia Apraxia Absent speech Esotropia Abnormal cerebellum morphology Highly arched eyebrow Long face Oral cleft Prominent nasal bridge Feeding difficulties in infancy Apnea Abnormality of the nervous system Conductive hearing impairment Clinodactyly Abnormal retinal morphology Gelastic seizures Aplasia/hypoplasia of the uterus Absent or minimally ossified vertebral bodies Optic atrophy Myopia Intralobar nephroblastomatosis Absent in utero ossification of vertebral bodies Unossified sacrum Absent in utero rib ossification Lumbosacral meningocele Abnormal liver lobulation Nephrogenic rest Unossified vertebral bodies Abnormal vertebral segmentation and fusion Rigidity Narrow pelvis bone Increased nuchal translucency Enlarged thorax Disproportionate short-trunk short stature Hypoplastic fingernail Missing ribs Myelomeningocele Bell-shaped thorax Multiple renal cysts Tracheomalacia Recurrent respiratory infections Craniosynostosis Short thorax Generalized hyperpigmentation Hypoplastic colon Hypoplasia of the small intestine Aplasia/Hypoplasia of the macula Cerebral cortical hemiatrophy Pancreatic fibrosis Abnormality of the cerebellar vermis Lymphangioma Subcortical cerebral atrophy Oxycephaly Broad neck Cystic hygroma Hypopigmentation of the skin Macular dystrophy Premature graying of hair Redundant skin Muscle stiffness Hydrops fetalis Hepatic fibrosis Thickened skin Abnormality of the face Specific learning disability Ascites Thoracic hypoplasia Hammertoe Paroxysmal bursts of laughter Abnormality of the cardiovascular system Flank pain Ureterocele Renal duplication Ureteropelvic junction obstruction Scoliosis Cerebral hemorrhage Sarcoma Abnormality of the urinary system Recurrent urinary tract infections Nephrotic syndrome Vesicoureteral reflux Congenital megaureter Hematuria Nephropathy Renal insufficiency Personality disorder Polydactyly affecting the 4th finger Polydactyly affecting the 3rd finger Auricular tag Aplasia/Hypoplasia of the vagina Supernumerary metacarpal bones 3-4 finger cutaneous syndactyly Bilateral renal dysplasia Renal sarcoma Large fontanelles Spina bifida Polymicrogyria Bifid ureter Renal malrotation Long hallux Retinal coloboma Varicose veins Long foot Bowing of the legs Large hands Spina bifida occulta Mitral valve prolapse Sensorineural hearing impairment Round face Neutropenia Astigmatism Coloboma Protruding ear Deeply set eye Pes planus Macrotia Midface retrusion Intellectual disability, mild Hypoglycemic coma Medulloblastoma Progressive spastic quadriplegia Short foot Mandibular aplasia Bilateral choanal atresia Microphallus Vaginal atresia Wide nose Decreased circulating cortisol level Upper airway obstruction High, narrow palate Retinal detachment Postaxial foot polydactyly Short distal phalanx of finger Dental malocclusion External genital hypoplasia Mesomelia Adrenal insufficiency Hypoplasia of penis Congenital diaphragmatic hernia Cutaneous syndactyly Clumsiness Cerebral visual impairment Preauricular skin tag Hypoplasia of the epiglottis Short palm Single transverse palmar crease Diverticulosis of trachea Muscle weakness Mandibular prognathia Coarse facial features Glioma Anterior hypopituitarism Median cleft lip Occipital encephalocele Short ribs Irritability Wide mouth Mesoaxial foot polydactyly Thin vermilion border Camptodactyly of finger Distal shortening of limbs Preductal coarctation of the aorta Primitive neuroectodermal tumor Neurological speech impairment Distal urethral duplication Finger syndactyly Thyroid dysgenesis Pulmonic stenosis Facial asymmetry Growth hormone deficiency Short toe Proptosis Ankyloglossia Short 2nd finger Penoscrotal hypospadias Abnormality of digit Embryonal neoplasm Hepatoblastoma Meckel diverticulum Cervical ribs Pancreatic islet-cell hyperplasia Chordee Increased IgE level Ureteral duplication Posterior helix pit Aplasia/Hypoplasia of the abdominal wall musculature Flared iliac wings Abnormality of the helix Furrowed tongue Renal neoplasm Duodenal atresia Diastasis recti Broad palm Low hanging columella Broad foot Short sacroiliac notch 2-3 finger syndactyly Hoarse voice Supernumerary nipple Congenital hip dislocation Narrow palpebral fissure Accelerated skeletal maturation Relative macrocephaly Abnormality of the hand Abnormality of the voice Cupped ear Preauricular pit Bilateral talipes equinovarus Bundle branch block Prolonged QT interval Narrow sacroiliac notch Two carpal ossification centers present at birth Cyst of the ductus choledochus Cleft lower lip Submucous cleft lip Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Vertebral fusion Broad secondary alveolar ridge Hypothyroidism Motor delay Glutaric aciduria Ragged-red muscle fibers Restrictive ventilatory defect Ventricular fibrillation Stridor Hemiplegia Back pain Abnormality of the dentition Slurred speech Easy fatigability Poor head control Mutism Hyperammonemia Glycosuria Spastic tetraparesis Pancreatitis Scapular winging Exercise intolerance Type I diabetes mellitus Clonus Leukodystrophy Decreased liver function Wide anterior fontanel Anorexia Difficulty climbing stairs Rhabdomyolysis Heterotopia Exercise-induced myalgia Oliguria Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Blindness Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Transposition of the great arteries Hypoketotic hypoglycemia Acute kidney injury Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Cardiorespiratory arrest Progressive proximal muscle weakness Ketosis Myoglobinuria Drowsiness Fatigable weakness Left ventricular hypertrophy Pachygyria Dysarthria Encephalopathy Elevated hepatic transaminase Difficulty walking Jaundice Arthralgia High forehead Acidosis Weight loss Gait ataxia Elevated serum creatine phosphokinase Areflexia Depressivity Myalgia Headache Congestive heart failure Diarrhea Vomiting Myopathy Obesity Pectus excavatum Dysphagia Fatigue Clinodactyly of the 5th finger Proximal muscle weakness Telecanthus Tetraparesis Hepatic steatosis Cardiomegaly Waddling gait Aciduria Increased serum lactate Gliosis Generalized muscle weakness Tetraplegia Muscle cramps Coma Metabolic acidosis Lactic acidosis Hypertrophic cardiomyopathy Nausea Joint hyperflexibility Limb muscle weakness Nausea and vomiting Abnormality of the cerebral white matter Lethargy Dilated cardiomyopathy Abnormality of the liver Splenomegaly Hyperlordosis Extrapulmonary sequestrum



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