Neuroblastoma, and Joint stiffness

Diseases related with Neuroblastoma and Joint stiffness

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


Top matches:

Low match 1P36 DELETION SYNDROME


1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

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 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

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Other less relevant matches:

Low match ATYPICAL TERATOID RHABDOID TUMOR


Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.

ATYPICAL TERATOID RHABDOID TUMOR Is also known as atrt

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL TERATOID RHABDOID TUMOR

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

Low match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Low match METAPHYSEAL ANADYSPLASIA


Metaphyseal anadysplasia is a very rare form of metaphyseal dysplasia characterized by short stature, rhizomelic micromelia and a mild varus deformity of the legs evident from the first months of life, that is associated with radiological features of severe metaphyseal changes (irregularities, widening and marginal blurring) in long bones, most prominent in proximal femurs, and generalized osteopenia, and that usually spontaneously resolves by the age of three years. Severe autosomal dominant and milder recessive variants have been observed.

METAPHYSEAL ANADYSPLASIA Is also known as maroteaux-verloes-stanescu syndrome|regressive metaphyseal dysplasia

Related symptoms:

  • Short stature
  • Joint stiffness
  • Abnormality of the metaphysis
  • Bowing of the long bones
  • Abnormality of epiphysis morphology


SOURCES: ORPHANET MENDELIAN

More info about METAPHYSEAL ANADYSPLASIA

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

Low match C SYNDROME


C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

Top 5 symptoms//phenotypes associated to Neuroblastoma and Joint stiffness

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Muscular hypotonia Uncommon - Between 30% and 50% cases
Hemiplegia/hemiparesis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hydrocephalus Hypertension Depressed nasal bridge Intellectual disability Generalized hypotonia Scoliosis Growth delay Behavioral abnormality Ventricular septal defect Anteverted nares Macrocephaly Failure to thrive in infancy Proptosis Failure to thrive Oral cleft Ventriculomegaly Irritability Decreased body weight Long philtrum Infantile muscular hypotonia Abnormality of cardiovascular system morphology Hypogonadism Carcinoma Abnormality of the testis Posteriorly rotated ears Delayed skeletal maturation Abnormality of the skeletal system Frontal bossing Motor delay Low-set ears Micrognathia Strabismus Low-set, posteriorly rotated ears Global developmental delay Abnormal facial shape Hypertelorism Abnormality of the hair Gastroesophageal reflux Cryptorchidism High palate Abnormality of the metaphysis Delayed speech and language development Visual impairment Epicanthus Brachydactyly Limitation of joint mobility Pain Flexion contracture Constipation

Rare Symptoms - Less than 30% cases


Clitoral hypertrophy Pyloric stenosis Hand polydactyly Sacral dimple Aplasia/Hypoplasia of the corpus callosum Abnormality of the dentition Cranial nerve paralysis Abnormal intestine morphology Nausea and vomiting Migraine Pointed chin Wide anterior fontanel Neoplasm of the lung Ulnar deviation of finger Rocker bottom foot Progeroid facial appearance Short nose Dysarthria Talipes equinovarus Tetraparesis Short neck Hepatomegaly Overgrowth Hypopnea Joint hyperflexibility Neoplasm of the pancreas Chondrocalcinosis Abnormality of the thorax Sarcoma Skin ulcer Gingival overgrowth Benign neoplasm of the central nervous system Severe short stature Weight loss Abnormality of the nervous system Cleft lip Apnea Breast carcinoma Leukemia Micromelia Polyphagia Obstructive sleep apnea Lack of skin elasticity Telangiectasia of the skin Spinal canal stenosis Central apnea Arnold-Chiari type I malformation Megalencephaly Myeloid leukemia Sleep disturbance Redundant neck skin Acanthosis nigricans Ovarian neoplasm Abnormality of the anus Epidermal acanthosis Pectus excavatum Tetralogy of Fallot Congestive heart failure Abnormality of the kidney Micropenis Clinodactyly Gait disturbance Dysphagia Hip dysplasia Cardiomyopathy Atrial septal defect Feeding difficulties in infancy Abnormality of the eye Cutis laxa Cerebral cortical atrophy Myopathy Myopia Agenesis of corpus callosum Short chin Neonatal hypotonia Malar flattening Conductive hearing impairment Clinodactyly of the 5th finger Cerebral atrophy Midface retrusion Absent speech Obesity Hoarse voice Wide mouth Downslanted palpebral fissures Laryngomalacia Muscle weakness Abnormality of the skin Abnormal heart morphology Hearing impairment Microcephaly Nystagmus Osteoporosis Hyperkeratosis Polyhydramnios Upslanted palpebral fissure Patent ductus arteriosus Cleft palate Cognitive impairment Wide nasal bridge Neurological speech impairment Feeding difficulties Redundant skin Hypermetropia Pes cavus Cataract Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Shyness Bladder neoplasm Ganglioneuroblastoma Concentric hypertrophic cardiomyopathy Postprandial hyperglycemia Frontal hirsutism Transitional cell carcinoma of the bladder Abnormal pulmonary valve morphology Duodenal ulcer Ulnar deviation of the wrist Body odor Tricuspid regurgitation Multifocal atrial tachycardia Vitreomacular adhesion Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Mitral valve prolapse Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Apraxia Tendon rupture Thick lower lip vermilion Neonatal sepsis Myofiber disarray Enlarged cerebellum Triangular mouth Macrocephaly at birth Atrial fibrillation Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Hypoplasia of dental enamel Choroid plexus papilloma Capillary malformation Limited elbow movement Melena Poor suck Abnormality of the fingernails Barrel-shaped chest Fragile nails Thickened nuchal skin fold Abnormal dermatoglyphics Microscopic hematuria Severe postnatal growth retardation Hemangioma Soft skin Arnold-Chiari malformation Neonatal hypoglycemia Syringomyelia Relative macrocephaly Hyperextensible skin Large earlobe Central hypotonia Aortic aneurysm Generalized hyperpigmentation Pleural effusion Rhabdomyolysis Heart murmur Curly hair Hyperglycemia Keratoconus Bilateral cryptorchidism Reduced subcutaneous adipose tissue Hypoplastic toenails Neurodevelopmental delay Large for gestational age Woolly hair Thick upper lip vermilion Hematemesis Pneumothorax Deep plantar creases Long eyelashes Thin nail Large face Papilloma Bronchomalacia Fetal distress Hyperpigmentation of the skin Abnormality of earlobe Schwannoma Broad femoral neck Rhabdomyosarcoma Hyperextensibility of the finger joints Lymphedema Achilles tendon contracture Concave nail Hypoplasia of teeth Hydrops fetalis Fasting hypoglycemia Cafe-au-lait spot Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Narrow palate Abnormality of dental enamel Verrucae Large forehead Tracheomalacia Subcapsular cataract Peripheral neuropathy Cardiac diverticulum Pancreatic adenocarcinoma Glioblastoma multiforme Agnosia Neoplasm of the thyroid gland Neoplasm of the skeletal system Abnormality of creatine metabolism Neoplasm of the rectum Urinary tract neoplasm Amaurosis fugax Intrauterine growth retardation Intellectual disability, severe Syndactyly Polydactyly Craniosynostosis Hip dislocation Toe syndactyly Leiomyosarcoma Dysgraphia Smooth philtrum Memory impairment Developmental regression Abnormal pyramidal sign Attention deficit hyperactivity disorder Malabsorption Paresthesia Dyskinesia Gastrointestinal hemorrhage Hallucinations Prostate cancer Increased intracranial pressure Basal cell carcinoma Visual field defect Colon cancer Hepatocellular carcinoma Pituitary adenoma Intestinal polyposis Talipes Thin vermilion border Abdominal pain Metopic synostosis Postaxial foot polydactyly Abnormal hair pattern Abnormality of the helix Aplasia/Hypoplasia of the abdominal wall musculature Medulloblastoma Broad alveolar ridges Accessory oral frenulum Female pseudohermaphroditism Abnormality of immune system physiology Pseudohypoaldosteronism Conotruncal defect Renal cortical cysts Hypoplasia of the ear cartilage Right-to-left shunt Midline facial capillary hemangioma Thick anterior alveolar ridges Anal stenosis Dislocated radial head Hirsutism Abnormality of the genital system Postaxial polydactyly Short metacarpal Limb undergrowth Postaxial hand polydactyly Congenital diaphragmatic hernia Intellectual disability, profound Omphalocele Bilateral single transverse palmar creases Biparietal narrowing Horseshoe kidney Multicystic kidney dysplasia Joint dislocation Renal hypoplasia/aplasia Trigonocephaly Radial deviation of finger Multiple joint contractures Anxiety Depressivity Skeletal muscle atrophy Abnormality of the voice Spontaneous abortion Type I diabetes mellitus Macular degeneration Atherosclerosis Melanoma Dermal atrophy Lipodystrophy Myelodysplasia Increased bone mineral density Polydipsia Polyuria Squamous cell carcinoma High pitched voice Premature graying of hair Decreased fertility Lipoatrophy Hypergonadotropic hypogonadism Narrow face Scleroderma Hypopigmentation of the skin Alopecia Rod-cone dystrophy Diabetes mellitus Retinopathy Retinal degeneration Nephropathy Small hand Coma Insulin resistance Chest pain Convex nasal ridge Decreased testicular size Type II diabetes mellitus Myocardial infarction Sparse scalp hair Abnormality of retinal pigmentation Aplasia/Hypoplasia of the skin Secondary amenorrhea Hypertonia Aplasia/Hypoplasia of the testes Abnormal hair whorl Poliosis Subcutaneous calcification Neoplasm of the small intestine Gastrointestinal carcinoma Premature arteriosclerosis Neoplasm of the oral cavity Acral lentiginous melanoma Chorioretinitis Bowing of the long bones Abnormality of epiphysis morphology Aplasia/Hypoplasia of the radius Abnormality of the ulna Abnormality of the lower limb Abnormality of ulnar metaphysis Fatigue Soft tissue sarcoma Cutaneous melanoma Prematurely aged appearance Osteosarcoma Growth hormone deficiency Premature loss of teeth Alopecia of scalp Pulmonary artery stenosis Posterior subcapsular cataract Meningioma Renal neoplasm Abnormality of the cerebral vasculature Narrow nasal ridge Peripheral arterial stenosis Pili torti Slender build White forelock Thyroid carcinoma Enlarged joints Arteriosclerosis Eczema Cervical myelopathy Webbed neck Overweight Delayed CNS myelination Dilation of lateral ventricles 11 pairs of ribs Abnormality of the neck Lower limb asymmetry Optic nerve coloboma Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Self-mutilation Epileptic spasms Left ventricular noncompaction Abnormal lung lobation Foot polydactyly Aortic root aneurysm Submucous cleft hard palate Congenital hypothyroidism Anteriorly placed anus Slender long bone Absent septum pellucidum Abnormality of the immune system Abnormal heart valve morphology Infantile spasms High hypermetropia Macule Hypermelanotic macule Volvulus Abnormality of the spleen Delayed cranial suture closure Expressive language delay Abnormality of the hairline Oppositional defiant disorder Asymmetry of the ears Noncompaction cardiomyopathy Cranial nerve VI palsy Abnormal social behavior Talipes valgus Abnormal external genitalia Horizontal eyebrow Hypoplastic labia minora Muscle flaccidity Annular pancreas Aortic arch aneurysm Abnormality of brain morphology Abnormality of the optic disc Delayed closure of the anterior fontanelle Abnormality of chromosome stability Rib fusion Thickened helices Colpocephaly Abnormal renal physiology Abnormal left ventricle morphology Biliary tract abnormality Cavum septum pellucidum Gastric ulcer Periventricular leukomalacia Abnormal corpus callosum morphology Impaired social interactions Lambdoidal craniosynostosis Abnormality of female external genitalia Abnormality of the mandible Dysphasia Metatarsus adductus Bifid ribs Abnormality of the pinna Hepatic steatosis Polymicrogyria Cleft upper lip Poor speech Synophrys Abnormality of the cerebral white matter Dilated cardiomyopathy Small for gestational age Microtia Camptodactyly of finger Abnormal cardiac septum morphology Coloboma Blepharophimosis Abnormality of the liver Camptodactyly Renal cyst Brachycephaly Sensorineural hearing impairment Optic atrophy Hypoplasia of the corpus callosum Kyphosis Hypospadias Prominent forehead Narrow mouth Aggressive behavior Autism Hypothyroidism Mandibular prognathia EEG abnormality Deeply set eye Hydronephrosis Short foot Bifid uvula Congenital sensorineural hearing impairment Large fontanelles Self-injurious behavior Patent foramen ovale Abnormality of vision Delayed gross motor development Scrotal hypoplasia Bicuspid aortic valve Leukoencephalopathy Hypercholesterolemia Spastic tetraparesis Narrow palpebral fissure Generalized hirsutism Short phalanx of finger Stereotypy Telangiectasia Heterotopia Brain atrophy Coarctation of aorta Delayed myelination Intestinal malrotation Epileptic encephalopathy Abnormal blistering of the skin Hypoplasia of penis Optic disc pallor Abnormality of the ribs Pachygyria Hypsarrhythmia Interphalangeal joint contracture of finger Ventricular hypertrophy Depressed nasal ridge Hypertrichosis Mitral regurgitation Hypoplastic female external genitalia Ebstein anomaly of the tricuspid valve Premature birth Childhood onset short-limb short stature Respiratory insufficiency Ptosis Malignant neoplasm of the central nervous system Reduced consciousness/confusion Apathy Cerebral palsy Cerebral calcification Ataxia Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Trident hand Limited hip extension Brain stem compression Small foramen magnum Intellectual disability, mild Myelopathy Upper airway obstruction Dysuria Abnormality of femur morphology Cor pulmonale Multiple epiphyseal dysplasia Hypoxemia Recurrent ear infections Iritis Thoracolumbar kyphosis Chronic myelogenous leukemia Neonatal short-limb short stature Central sleep apnea Obstructive lung disease Cervical cord compression Edema Renal insufficiency Generalized joint laxity Delayed puberty Nevus Full cheeks Sepsis Macroglossia Tetraplegia Ascites Postural instability High, narrow palate Hematuria Thick vermilion border Wide nose Tachycardia Joint hypermobility Astigmatism Pulmonic stenosis Hernia Coarse facial features Arrhythmia Inguinal hernia Hyperhidrosis Respiratory failure Kyphoscoliosis Osteopenia Hypoglycemia Arthrogryposis multiplex congenita Hypertrophic cardiomyopathy Joint laxity Intellectual disability, moderate Postnatal growth retardation Sparse hair Pectus carinatum Communicating hydrocephalus Osteopetrosis Abnormality of the femoral neck Intestinal obstruction Skeletal dysplasia Hyperreflexia Anemia Abnormality of connective tissue Abnormal sacrum morphology Fibroma Gingival fibromatosis Bone cyst Abnormality of the skull Ankylosis Irregular hyperpigmentation Abnormality of the musculature Neurofibromas Tracheoesophageal fistula Hypercalcemia Rigidity Abnormality of the cerebral ventricles Widened subarachnoid space Bilobate gallbladder Congenital talipes calcaneovalgus Aplasia/Hypoplasia involving bones of the feet Hyperplastic labia majora Abnormal parietal bone morphology Abnormality of the renal pelvis Hemiplegia Solitary renal cyst Agenesis of the anterior commissure Abnormality of the face Subcutaneous nodule Osteolysis Neoplasm of the skin Arthralgia Hyperlordosis Spinal cord compression Tinnitus Abnormality of the elbow Hip contracture Disproportionate short stature Tibial bowing Limited elbow extension Bowel incontinence Short femoral neck Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Epiphyseal dysplasia Back pain Genu varum Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Scarring Abnormal form of the vertebral bodies Confusion Lymphoma Otitis media Lumbar hyperlordosis Osteoarthritis Recurrent otitis media Abnormal lung morphology Short long bone Recurrent urinary tract infections Rhizomelia Short toe Clonus Paraparesis Sleep apnea Fused sternal ossification centers



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