Neuroblastoma, and Babinski sign

Diseases related with Neuroblastoma and Babinski sign

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


Top matches:

Medium 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

Medium 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

Low match L-2-HYDROXYGLUTARIC ACIDURIA


L-2-hydroxyglutaric aciduria is a primarily neurological form of 2-hydroxyglutaric aciduria (see this term) characterized by psychomotor retardation, cerebellar ataxia and variable macrocephaly or epilepsy.

L-2-HYDROXYGLUTARIC ACIDURIA Is also known as l-2-hga|l-2-hydroxyglutaric acidemia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about L-2-HYDROXYGLUTARIC ACIDURIA

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Other less relevant matches:

Low match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

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 INFANTILE MYOFIBROMATOSIS


Infantile myofibromatosis (IM) is a rare benign soft tissue tumor characterized by the development of nodules in the skin, striated muscles, bones, and in exceptional cases, visceral organs, leading to a broad spectrum of clinical symptoms. IM contains myofibroblasts.

INFANTILE MYOFIBROMATOSIS Is also known as myofibromatosis, juvenile|cgf|fibromatosis, congenital generalized

Related symptoms:

  • Neoplasm
  • Pain
  • Abnormality of the kidney
  • Abnormality of the eye
  • Limitation of joint mobility


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about INFANTILE MYOFIBROMATOSIS

Low 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

Low match ACHONDROPLASIA; ACH


Achondroplasia is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and midface hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and trident hand (summary by Bellus et al., 1995).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: MESH OMIM MENDELIAN

More info about ACHONDROPLASIA; ACH

Low match MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE; MCPH22


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Hypertonia


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 22, PRIMARY, AUTOSOMAL RECESSIVE; MCPH22

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

Top 5 symptoms//phenotypes associated to Neuroblastoma and Babinski sign

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Delayed speech and language development Generalized hypotonia Growth delay Nystagmus Ataxia Microcephaly Hearing impairment Flexion contracture Hypertonia Behavioral abnormality Hyperreflexia Developmental regression Attention deficit hyperactivity disorder Abnormal pyramidal sign Motor delay Macrocephaly Optic atrophy Weight loss Apraxia Leukemia Ventriculomegaly Strabismus Anemia Pain

Rare Symptoms - Less than 30% cases


Carcinoma Lymphoma Benign neoplasm of the central nervous system Neoplasm of the pancreas Hemiplegia/hemiparesis Sarcoma Clumsiness Myeloid leukemia Chronic myelogenous leukemia Visual impairment Abnormality of the kidney Muscular hypotonia Acanthosis nigricans Abnormal lung morphology Epidermal acanthosis Acute lymphoblastic leukemia High palate Respiratory tract infection Hydrocephalus Neonatal hypotonia Paraparesis Absent speech Scoliosis Apnea Frontal bossing Sloping forehead Conductive hearing impairment Depressed nasal bridge Leukoencephalopathy Otitis media Overgrowth Leukodystrophy Tetraparesis Myoclonus Dystonia Atrial septal defect Spasticity Abnormality of the metaphysis Renal agenesis Dilated cardiomyopathy Gait disturbance Severe short stature Midface retrusion Hypoplasia of the corpus callosum Cardiomyopathy Hypermetropia Dysarthria Long philtrum Cognitive impairment Obesity Cryptorchidism Rigidity Pigmentary retinopathy Retinopathy Abnormal facial shape Mandibular prognathia Hypothyroidism Laryngomalacia Impulsivity Oxycephaly Brachydactyly Periventricular leukomalacia Pontocerebellar atrophy Abnormal glucose tolerance Inverted nipples Hypertension Abnormality of the skeletal system Ganglioneuroblastoma Hypoplasia of dental enamel Abnormality of the nervous system Malar flattening Oral cleft Abnormal form of the vertebral bodies Recurrent otitis media Osteoarthritis Lumbar hyperlordosis Enlarged cisterna magna Long foot Advanced eruption of teeth Sleep disturbance Confusion Cavum septum pellucidum Micromelia Joint hyperflexibility Scarring Hyperlordosis Cleft lip Arthralgia Skeletal dysplasia Gastroesophageal reflux Hyperbilirubinemia Teratoma Overbite Abnormality of the thorax Ankylosis Irregular hyperpigmentation Expressive language delay Abnormality of the musculature Neurofibromas Tracheoesophageal fistula Sacrococcygeal teratoma Intestinal obstruction Gray matter heterotopias Abnormality of the skull Hypercalcemia Hemiplegia Abnormal intestine morphology Neoplasm of the skin Osteolysis Skin ulcer Small cell lung carcinoma Abnormality of the hair Gingival overgrowth Neoplasm of the lung Chondrocalcinosis Bradycardia Hypoglycemia Postnatal microcephaly Hamartomatous polyposis Rhizomelia Open mouth Delayed myelination Inability to walk Generalized tonic-clonic seizures Protruding ear Thin upper lip vermilion Bone cyst Upslanted palpebral fissure Anteverted nares Feeding difficulties Hyperplasia of the maxilla Low-set ears Abnormality of connective tissue Abnormal sacrum morphology Fibroma Gingival fibromatosis Recurrent urinary tract infections Sleep apnea Short toe Small foramen magnum Limb hypertonia Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Childhood onset short-limb short stature Iritis Hypertelorism Cervical cord compression Hypopnea Narrow face Pointed chin Narrow palate Accelerated skeletal maturation Obstructive lung disease Abnormal dermatoglyphics Cutis laxa Medulloblastoma Downslanted palpebral fissures Central sleep apnea Genu valgum Heterotopia Tall stature Lymphedema Small nail Vesicoureteral reflux Hypodontia Abnormal vertebral morphology High, narrow palate Joint hypermobility Dolichocephaly Ventricular septal defect Joint laxity Aggressive behavior Jaundice Pes planus Coarse facial features Macrotia Prominent forehead Abnormal heart morphology Patent ductus arteriosus Cervical myelopathy Neonatal short-limb short stature Clonus Genu varum Limited elbow extension Bowel incontinence Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Large hands Back pain Abnormality of pelvic girdle bone morphology Disproportionate short stature Tinnitus Disproportionate short-limb short stature Agenesis of permanent teeth Partial agenesis of the corpus callosum Prolonged neonatal jaundice Short long bone Infantile muscular hypotonia Poor coordination High anterior hairline Tibial bowing Hip contracture Reduced number of teeth Central apnea Redundant skin Thoracolumbar kyphosis Precocious puberty Recurrent ear infections Myelopathy Hypoxemia Multiple epiphyseal dysplasia Cor pulmonale Abnormality of femur morphology Dysuria Nephroblastoma Upper airway obstruction Communicating hydrocephalus Subcutaneous nodule Osteopetrosis Megalencephaly Spinal cord compression Obstructive sleep apnea Abnormality of the elbow Spinal canal stenosis Generalized joint laxity Ragged-red muscle fibers Abnormality of the face Cerebellar vermis atrophy Multinodular goiter Glioma Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Abnormality of lipid metabolism Long nose Long neck Truncal obesity Cortical gyral simplification Ectopic kidney High pitched voice Sensory axonal neuropathy Bilateral cryptorchidism Unilateral renal agenesis Postural tremor Dysdiadochokinesis Gastrointestinal stroma tumor Fatigue Goiter Gastrointestinal hemorrhage Hepatocellular carcinoma Ovarian neoplasm Colon cancer Visual field defect Basal cell carcinoma Breast carcinoma Increased intracranial pressure Hallucinations Memory impairment Migraine Depressivity Dyskinesia Paresthesia Nausea and vomiting Malabsorption Neurological speech impairment Irritability Anxiety Abdominal pain Constipation Slurred speech Leukopenia Intestinal polyposis Inguinal hernia Sparse hair Postnatal growth retardation Deeply set eye High forehead Micropenis Diabetes mellitus Hypogonadism Pes cavus Clinodactyly Prominent nasal bridge Hernia Thrombocytopenia Recurrent infections Immunodeficiency Tremor Intrauterine growth retardation Peripheral neuropathy Cataract Sensorineural hearing impairment Short philtrum Small for gestational age Short chin Limb undergrowth Bone marrow hypocellularity Hypergonadotropic hypogonadism Lymphopenia Insulin resistance Broad-based gait Cutaneous photosensitivity Renal hypoplasia Hypotelorism Bradykinesia Decreased testicular size Synophrys Convex nasal ridge Progressive cerebellar ataxia Broad nasal tip Triangular face Polyneuropathy Sensory neuropathy Falls Long face Dysmetria Pituitary adenoma Prostate cancer Limitation of joint mobility Increased serum lactate Rhabdomyolysis Oral-pharyngeal dysphagia Easy fatigability External ophthalmoplegia Exercise intolerance Congenital hip dislocation Mitral regurgitation Spastic tetraplegia Generalized myoclonic seizures Preeclampsia Generalized muscle weakness Tetraplegia Lactic acidosis Ophthalmoplegia Hypertrophic cardiomyopathy Proximal muscle weakness Acidosis Respiratory failure Dementia Ketosis Ketonuria Congestive heart failure Paraplegia Abnormality of the eye Neoplasm of the peripheral nervous system Peripheral neuroepithelioma Ewing sarcoma Primitive neuroectodermal tumor Burkitt lymphoma Meningioma Leukocytosis Pleural effusion Paralysis Left ventricular noncompaction Fever Stress/infection-induced lactic acidosis Left ventricular systolic dysfunction Abnormal mitochondria in muscle tissue Decreased activity of mitochondrial complex II Progressive leukoencephalopathy Increased intramyocellular lipid droplets Hemolytic-uremic syndrome Paraganglioma Arrhythmia Diarrhea Dysgraphia Urinary tract neoplasm Neuronal loss in central nervous system Aciduria Gliosis Abnormal cerebellum morphology Gait ataxia Intellectual disability, mild Cerebellar atrophy Intellectual disability, severe Cardiac diverticulum Truncal ataxia Neoplasm of the rectum Abnormality of creatine metabolism Neoplasm of the skeletal system Neoplasm of the thyroid gland Agnosia Glioblastoma multiforme Pancreatic adenocarcinoma Leiomyosarcoma Amaurosis fugax Abnormality of extrapyramidal motor function Horizontal nystagmus Vomiting Ependymoma Myopathy Blindness Dysphagia Ptosis Muscle weakness Failure to thrive Severe demyelination of the white matter L-2-hydroxyglutaric acidemia L-2-hydroxyglutaric aciduria Neoplasm of the nervous system Intellectual disability, progressive Morphological abnormality of the pyramidal tract Organic aciduria Corpus callosum atrophy Atrophy/Degeneration affecting the brainstem Dysphasia Global brain atrophy Aplasia/Hypoplasia of the cerebellum Encephalitis Spastic tetraparesis Abnormality of the cerebral ventricles



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