Neuroblastoma, and Apraxia

Diseases related with Neuroblastoma and Apraxia

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


Top matches:

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Medium 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 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

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Other less relevant matches:

Low match SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED


In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Low match PROGRESSIVE NON-FLUENT APHASIA


Progressive non-fluent aphasia (PNFA) is a form of frontotemporal dementia (FTD; see this term), characterized by agrammatism, laborious speech, alexia, and agraphia, frequently accompanied by apraxia of speech (AOS). Language comprehension is relatively preserved.

PROGRESSIVE NON-FLUENT APHASIA Is also known as agramatic variant of primary progressive aphasia|agramatic variant of ppa|non-fluent variant ppa

Related symptoms:

  • Behavioral abnormality
  • Depressivity
  • Anxiety
  • Mental deterioration
  • Stroke


SOURCES: ORPHANET MENDELIAN

More info about PROGRESSIVE NON-FLUENT APHASIA

Low match RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1


The rhabdoid tumor predisposition syndrome is an autosomal dominant cancer syndrome predisposing to renal or extrarenal malignant rhabdoid tumors and to a variety of tumors of the central nervous system, including choroid plexus carcinoma, medulloblastoma, and central primitive neuroectodermal tumors (Sevenet et al., 1999).Rhabdoid tumors are a highly malignant group of neoplasms that usually occur in children less than 2 years of age. Malignant rhabdoid tumors (MRTs) of the kidney were first described as a sarcomatous variant of Wilms tumors (Beckwith and Palmer, 1978). Later, extrarenal rhabdoid tumor was reported in numerous locations, including the central nervous system (CNS) (Parham et al., 1994). Classification has been difficult because of considerable variation in the histologic and immunologic characteristics within and between rhabdoid tumors of the liver, soft tissues, and CNS. In the CNS, rhabdoid tumors may be pure rhabdoid tumors or a variant that has been designated atypical teratoid tumor (AT/RT). Genetic Heterogeneity of Rhaboid Tumor Predisposition SyndromeSee also RTPS2 (OMIM ), caused by germline mutation in the SMARCA4 gene (OMIM ) on chromosome 19p13.

RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1 Is also known as brain tumor, posterior fossa, of infancy, familial

Related symptoms:

  • Neoplasm
  • Carcinoma
  • Confusion
  • Sarcoma
  • Neuroblastoma


SOURCES: OMIM MENDELIAN

More info about RHABDOID TUMOR PREDISPOSITION SYNDROME 1; RTPS1

Low match RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS


Retinal vasculopathy and cerebral leukodystrophy (RVCL) is an inherited group of small vessel diseases comprised of cerebroretinal vasculopathy (CRV), hereditary vascular retinopathy (HRV) and hereditary endotheliopathy with retinopathy, nephropathy and stroke (HERNS; see these terms); all exhibiting progressive visual impairment as well as variable cerebral dysfunction.

RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS Is also known as retinopathy, vascular, with cerebral and renal involvement and raynaud and migraine phenomena|cerebroretinal vasculopathy, hereditary|crv|retinal vasculopathy and cerebral leukoencephalopathy|rvcl|rvcl-s

Related symptoms:

  • Seizures
  • Ataxia
  • Neoplasm
  • Pain
  • Visual impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RETINAL VASCULOPATHY WITH CEREBRAL LEUKOENCEPHALOPATHY AND SYSTEMIC MANIFESTATIONS

Low match LEUKEMIA, ACUTE MYELOID; AML


LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Related symptoms:

  • Seizures
  • Neoplasm
  • Pain
  • Anemia
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEUKEMIA, ACUTE MYELOID; AML

Low match ONDINE SYNDROME


Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome|autonomic control, congenital failure of|central congenital hypoventilation syndrome|ondine curse, congenital|cchs|ondine curse

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about ONDINE SYNDROME

Low match LYNCH SYNDROME


LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

Top 5 symptoms//phenotypes associated to Neuroblastoma and Apraxia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Carcinoma Uncommon - Between 30% and 50% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Dysarthria Hypermetropia Anxiety Memory impairment Brain neoplasm Ganglioneuroblastoma Nystagmus Abnormal facial shape Muscular hypotonia Cryptorchidism Delayed speech and language development Depressivity Downslanted palpebral fissures Ventriculomegaly Cognitive impairment Pain Intellectual disability Low-set ears Generalized hypotonia Ataxia High palate Apnea Long philtrum Attention deficit hyperactivity disorder Feeding difficulties

Rare Symptoms - Less than 30% cases


Posteriorly rotated ears Hyperhidrosis Short nose Pes cavus Inguinal hernia Hernia Fever Fatigue Severe short stature Obstructive sleep apnea Weight loss Edema Low-set, posteriorly rotated ears Cardiomyopathy Respiratory insufficiency Recurrent infections Gait disturbance Growth delay Short stature Constipation Redundant skin Cutis laxa Abnormal dermatoglyphics Respiratory failure Sparse hair Irritability Abnormal lung morphology Mental deterioration Stroke Chronic lung disease Bilateral cryptorchidism Dysgraphia Acanthosis nigricans Short chin Confusion Leukopenia Sarcoma Neoplasm of the central nervous system Epidermal acanthosis Schwannoma Postnatal growth retardation Pointed chin Triangular mouth Abnormal pyramidal sign Retinopathy Visual impairment Headache Obesity Migraine Postural instability Thrombocytopenia Hematuria Thickened nuchal skin fold Narrow palate Hypogonadism Anemia Clumsiness Overgrowth Frontal bossing Ventricular septal defect Renal agenesis Absent speech Atrial septal defect High, narrow palate Hypothyroidism Hypoplasia of the corpus callosum Joint hypermobility Abnormal heart morphology Mandibular prognathia Leukemia Respiratory tract infection Hypoglycemia Joint laxity Hydrocephalus Coarse facial features Laryngomalacia Sloping forehead Lymphedema Hearing impairment Hypoplasia of dental enamel Microcephaly Scoliosis Macrocephaly Anteverted nares Depressed nasal bridge Hyperreflexia Hypertelorism Frontotemporal dementia Long neck Neoplasm of the thyroid gland Alexia Prostate cancer EEG with continuous slow activity Astrocytosis Gastrointestinal stroma tumor Benign neoplasm of the central nervous system Multinodular goiter Agnosia Glioma Neoplasm of the skeletal system Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Senile plaques Abnormal lower motor neuron morphology Restlessness Personality changes Neurofibrillary tangles Perseveration Abnormal brain FDG positron emission tomography Cerebellar vermis atrophy Frontotemporal cerebral atrophy Lewy bodies Dysphasia Mutism Temporal cortical atrophy Abnormality of extrapyramidal motor function Leiomyosarcoma Parkinsonism Abnormality of the cerebral white matter Amaurosis fugax Pancreatic adenocarcinoma Motor aphasia Glioblastoma multiforme Aphasia Dysdiadochokinesis Long nose Rigidity Polyneuropathy Sensory neuropathy Falls Long face Dysmetria Synophrys Dilated cardiomyopathy Small for gestational age Prominent nasal bridge Short philtrum Deeply set eye Broad nasal tip High forehead Micropenis Diabetes mellitus Babinski sign Clinodactyly Midface retrusion Cardiac diverticulum Immunodeficiency Tremor Intrauterine growth retardation Peripheral neuropathy Triangular face Progressive cerebellar ataxia Truncal obesity Hypergonadotropic hypogonadism Cortical gyral simplification Ectopic kidney High pitched voice Sensory axonal neuropathy Unilateral renal agenesis Postural tremor Grammar-specific speech disorder Slurred speech Goiter Bone marrow hypocellularity Lymphopenia Convex nasal ridge Insulin resistance Abnormality of creatine metabolism Neoplasm of the rectum Broad-based gait Cutaneous photosensitivity Renal hypoplasia Hypotelorism Bradykinesia Pigmentary retinopathy Limb undergrowth Decreased testicular size Intestinal polyposis Flexion contracture Pituitary adenoma Menorrhagia Night sweats Acute monocytic leukemia Neurological speech impairment Ecchymosis Gingival bleeding Malabsorption Acute myeloid leukemia Nausea and vomiting Myeloid leukemia Petechiae Myelodysplasia Acute promyelocytic leukemia Pancytopenia Coma Bruising susceptibility Lymphadenopathy Scarring Paresthesia Dyskinesia Hepatosplenomegaly Dyspnea Respiratory distress Chronic pain Diarrhea Hallucinations Abnormality of the endocrine system Hypertonia Abnormality of the autonomic nervous system Abdominal pain Ganglioneuroma Developmental regression Snoring Abnormality of temperature regulation Central hypoventilation Abnormal pupil morphology Hypoxemia Chronic constipation Cyanosis Hypothermia Cardiorespiratory arrest Abnormality of the mouth Hypoventilation Polycythemia Polyphagia Sleep apnea Abnormal autonomic nervous system physiology Increased body weight Aganglionic megacolon Abnormality of the cardiovascular system Gastrointestinal hemorrhage Punctate vasculitis skin lesions Spoken Word Recognition Deficit Elevated hepatic transaminase Leukodystrophy Sinusitis Telangiectasia Hemiparesis Progressive visual loss Sensory impairment Nephropathy Cirrhosis Lower limb muscle weakness Proteinuria Reduced visual acuity Leukoencephalopathy Dementia Visual loss Hepatocellular carcinoma Hypercapnia Choroid plexus carcinoma Medulloepithelioma Chordoma Embryonal neoplasm Medulloblastoma Astrocytoma Neoplasm of the pancreas Vasculitis Elevated erythrocyte sedimentation rate Diminished ability to concentrate Central nervous system degeneration Increased intracranial pressure Progressive forgetfulness Breast carcinoma Hemiplegia/hemiparesis Basal cell carcinoma Focal white matter lesions Cataract Vasculitis in the skin Visual field defect Retinal exudate Limb pain Lower limb hyperreflexia Retinal hemorrhage Micronodular cirrhosis Abnormality of the retinal vasculature Macular edema Raynaud phenomenon Chronic sinusitis Aseptic necrosis Colon cancer Abnormality of the periventricular white matter Ovarian neoplasm Glomerulopathy Pineoblastoma Rhabdomyosarcoma Sensorineural hearing impairment Abnormality of the skeletal system Delayed skeletal maturation Arrhythmia Pectus excavatum Abnormality of cardiovascular system morphology Cerebral atrophy Renal insufficiency Intellectual disability, mild Abnormality of the dentition Myopathy Short neck Talipes equinovarus Dysphagia Cerebral cortical atrophy Myopia Hepatomegaly Epicanthus Hypertension Motor delay Ptosis Micrognathia Failure to thrive Abnormality of the cerebral ventricles Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Osteoporosis Hyperkeratosis Hyperplasia of the maxilla Joint hyperflexibility Nevus Full cheeks Sepsis Macroglossia Tetraplegia Ascites Sleep disturbance Thick vermilion border Wide nose Tachycardia Astigmatism Delayed puberty Proptosis Pulmonic stenosis Arthrogryposis multiplex congenita Pectus carinatum Wide mouth Feeding difficulties in infancy Intellectual disability, moderate Hypertrophic cardiomyopathy Abnormality of the nervous system Osteopenia Kyphoscoliosis Gastroesophageal reflux Polyhydramnios Expressive language delay Teratoma Webbed neck Inverted nipples Abnormality of the kidney Aggressive behavior Conductive hearing impairment Neonatal hypotonia Jaundice Pes planus Macrotia Prominent forehead Patent ductus arteriosus Optic atrophy Pontocerebellar atrophy Impulsivity Genu valgum Hyperbilirubinemia Paraparesis Bradycardia Postnatal microcephaly Open mouth Delayed myelination Inability to walk Generalized tonic-clonic seizures Protruding ear Thin upper lip vermilion Upslanted palpebral fissure Spasticity Dolichocephaly Hypodontia Hamartomatous polyposis Prolonged neonatal jaundice Overbite Abnormal glucose tolerance Periventricular leukomalacia Oxycephaly Cavum septum pellucidum Advanced eruption of teeth Long foot Enlarged cisterna magna High anterior hairline Poor coordination Acute lymphoblastic leukemia Partial agenesis of the corpus callosum Vesicoureteral reflux Agenesis of permanent teeth Large hands Nephroblastoma Precocious puberty Reduced number of teeth Accelerated skeletal maturation Narrow face Abnormal vertebral morphology Tall stature Heterotopia Small nail Otitis media Premature birth Growth hormone deficiency Increased corneal curvature Abnormality of earlobe Bladder neoplasm Capillary malformation Melena Hematemesis Deep plantar creases Thin nail Large face Papilloma Bronchomalacia Fetal distress Limited elbow movement Broad femoral neck Duodenal ulcer Hyperextensibility of the finger joints Pneumothorax Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Redundant neck skin Abnormality of the testis Abnormal pulmonary valve morphology Ulnar deviation of the wrist Central apnea Cardiomyocyte hypertrophy Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Loose anagen hair Bladder carcinoma Body odor Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Frontal hirsutism Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Lack of skin elasticity Verrucae Abnormality of the skin Abnormality of dental enamel Pleural effusion Aortic aneurysm Failure to thrive in infancy Pyloric stenosis Hyperextensible skin Poor suck Relative macrocephaly Arnold-Chiari malformation Hemangioma Infantile muscular hypotonia Abnormality of the fingernails Hoarse voice Hyperglycemia Abnormality of the hair Cafe-au-lait spot Hydrops fetalis Wide anterior fontanel Hyperpigmentation of the skin Long eyelashes Decreased body weight Atrial fibrillation Thick lower lip vermilion Mitral valve prolapse Eczema Hip dysplasia Heart murmur Hypoplastic toenails Large forehead Neonatal hypoglycemia Achilles tendon contracture Thick upper lip vermilion Large earlobe Woolly hair Progeroid facial appearance Barrel-shaped chest Megalencephaly Fragile nails Microscopic hematuria Severe postnatal growth retardation Soft skin Arnold-Chiari type I malformation Tricuspid regurgitation Syringomyelia Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Curly hair Keratoconus Reduced subcutaneous adipose tissue Neurodevelopmental delay Large for gestational age Rocker bottom foot Urinary tract neoplasm



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