Neuroblastoma, and Recurrent fractures

Diseases related with Neuroblastoma and Recurrent fractures

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


Top matches:

Medium match RUBINSTEIN-TAYBI SYNDROME 1; RSTS1


Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

Low match MAFFUCCI SYNDROME


Maffucci syndrome is a very rare genetic bone and skin disorder characterized by multiple enchondromas, leading to bone deformities, combined with multiple dark, irregularly shaped hemangiomas or less commonly lymphangiomas.

MAFFUCCI SYNDROME Is also known as maffucci syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Anemia
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MAFFUCCI SYNDROME

Low match OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME


Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Is also known as oppg|osteogenesis imperfecta, ocular form|ocular form of osteogenesis imperfecta|ops

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

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Other less relevant matches:

Low match HYPERPARATHYROIDISM 1; HRPT1


Familial isolated primary hyperparathyroidism is an autosomal dominant hypercalcemic disorder caused by inappropriate oversecretion of parathyroid hormone (PTH) from parathyroid adenomas, hyperplasia, and carcinomas (summary by Shibata et al., 2015). Genetic Heterogeneity of Familial HyperparathyroidismHyperparathyroidism-2 with jaw tumors (HRPT2 ), also known as the hyperparathyroidism-jaw tumor syndrome (HPT-JT), is also caused by mutation in the CDC73 gene. A locus for HRPT (HRPT3 ) has been mapped to chromosome 2p14-p13.3. HRPT4 (OMIM ) is caused by mutation in the GCM2 gene (OMIM ) on chromosome 6p24. Neonatal severe hyperparathyroidism (NSHPT ) is caused by mutation in the CASR gene (OMIM ) on chromosome 3q.Familial isolated primary hyperparathyroidism occasionally results from incomplete expression of multiple endocrine neoplasia (see MEN1, {131100}).Familial hypocalciuric hypercalcemia (see {145980}) can be confused with familial primary hyperparathyroidism.

HYPERPARATHYROIDISM 1; HRPT1 Is also known as fihp|hyperparathyroidism, familial isolated primary

Related symptoms:

  • Neoplasm
  • Renal insufficiency
  • Osteopenia
  • Carcinoma
  • Abnormality of the kidney


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERPARATHYROIDISM 1; HRPT1

Low match NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION


Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

Low match BLUE RUBBER BLEB NEVUS


Blue rubber bleb nevus (BRBNS) is a rare vascular malformation disorder with cutaneous and visceral lesions frequently associated with serious, potentially fatal bleeding and anemia.

BLUE RUBBER BLEB NEVUS Is also known as brbn|bean syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Pain
  • Anemia
  • Thrombocytopenia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLUE RUBBER BLEB NEVUS

Low match CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY


Congenital alpha2 antiplasmin deficiency is a rare hemorrhagic disorder (see this term)caused by congenital deficiency of alpha2 antiplasmin, leading to dysregulated fibrinolysis and is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes (often in unusual locations like diaphysis of long bones). Congenital alpha2 antiplasmin deficiency is inherited in an autosomal recessive manner.

CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY Is also known as antiplasmin deficiency|plasmin inhibitor deficiency

Related symptoms:

  • Pain
  • Bruising susceptibility
  • Hematuria
  • Abnormal bleeding
  • Bone pain


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL ALPHA2-ANTIPLASMIN DEFICIENCY

Low match NEUROBLASTOMA


Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Related symptoms:

  • Ataxia
  • Neoplasm
  • Failure to thrive
  • Pain
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROBLASTOMA

Low match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Low match CRANIOPHARYNGIOMA


Craniopharyngiomas are benign slow growing tumours that are located within the sellar and parasellar regions of the central nervous system.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about CRANIOPHARYNGIOMA

Top 5 symptoms//phenotypes associated to Neuroblastoma and Recurrent fractures

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Bone pain Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Anemia Scoliosis Neurofibromas Cafe-au-lait spot Pain Pulmonic stenosis Leukemia Subcutaneous nodule Abnormality of the kidney Breast carcinoma Pathologic fracture Parathyroid adenoma Global developmental delay Intellectual disability, mild Glaucoma Osteopenia Behavioral abnormality Arrhythmia Generalized hypotonia Hearing impairment Ptosis Hypertension Muscular hypotonia

Rare Symptoms - Less than 30% cases


Dilatation Rhabdomyosarcoma Sarcoma Hemangioma Venous thrombosis Freckling Multiple cafe-au-lait spots Renal cell carcinoma Medulloblastoma Nasolacrimal duct obstruction Tetralogy of Fallot Paraganglioma Nevus Pheochromocytoma Meningioma Overweight Delayed puberty Myocardial infarction Spina bifida occulta Mitral valve prolapse Astrocytoma Headache Carcinoma Abnormality of cardiovascular system morphology Cognitive impairment Weight loss Hypertelorism Hypoglycemia Carcinoid tumor Neoplasm of the endocrine system Hypophosphatemia Left ventricular hypertrophy Coarctation of aorta Multiple enchondromatosis Retinoblastoma Glioma Increased susceptibility to fractures Hypertrophic cardiomyopathy Kyphoscoliosis Osteoporosis Gastrointestinal hemorrhage Blindness Visual impairment Specific learning disability Aganglionic megacolon Hydrocephalus Hyperactivity Postnatal growth retardation Hypospadias Pectus excavatum Joint hypermobility Wide nasal bridge Joint laxity Microcephaly Delayed speech and language development Low-set ears Failure to thrive Abnormal heart morphology Dysphagia Delayed skeletal maturation Ventricular septal defect Autism Constipation Abnormal facial shape Cataract Cryptorchidism Hematuria Visceral angiomatosis Abnormal bleeding Rectal prolapse Bruising susceptibility Gastrointestinal infarctions Chronic disseminated intravascular coagulation Cerebellar medulloblastoma Cavernous hemangioma Intestinal bleeding Melena Venous malformation Gingival bleeding Intussusception Intracranial hemorrhage Abnormal umbilical stump bleeding Ecchymosis Abdominal pain Adrenal calcification Ganglioneuroblastoma Horner syndrome Neoplasm of the nervous system Ganglioneuroma Skin nodule Spinal cord compression Abnormality of the thorax Myoclonus Histiocytosis Diarrhea Fever Ataxia Reduced euglobulin clot lysis time Hemothorax Volvulus Intramuscular hematoma Persistent bleeding after trauma Joint hemorrhage Chronic lymphatic leukemia Prominent nose Arteriovenous malformation Leiomyosarcoma Embryonal rhabdomyosarcoma Axillary freckling Renovascular hypertension Renal artery stenosis Single ventricle Pseudoarthrosis Soft tissue sarcoma Epigastric pain Dural ectasia Fibular bowing Neuroma Gastrointestinal stroma tumor Neoplasm of the central nervous system Lisch nodules Chronic myelogenous leukemia Renal phosphate wasting Schwannoma Strabismus Night sweats Anomalous pulmonary venous return Vestibular Schwannoma Neurofibrosarcoma Abnormality of the respiratory system Abnormality of the liver Abnormality of the mouth Abnormality of the vasculature Iron deficiency anemia Opsoclonus Prolonged bleeding time Hypermelanotic macule Abnormality of coagulation Micrognathia Skin rash Hyperhidrosis Optic nerve glioma Thrombocytopenia Brow ptosis Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Acute promyelocytic leukemia Subcutaneous neurofibromas Microcytic anemia Elevated urinary catecholamines Abdominal mass Vertigo Hypogonadotrophic hypogonadism Increased body weight Type II diabetes mellitus Cerebral calcification Amenorrhea Hypotension Coma Sleep disturbance Nausea Confusion Increased intracranial pressure Nausea and vomiting Lethargy Anxiety Hypothyroidism Hypogonadism Obesity Recurrent infections Vomiting Fatigue Optic atrophy Sleep apnea Diabetes insipidus Hypoplasia of the ovary Sudden loss of visual acuity Abnormality of the nasal bone Abnormal hypothalamus morphology Neoplasm of the anterior pituitary Intracranial cystic lesion Abnormal visual field test Craniopharyngioma Progressive visual field defects Enlarged pituitary gland Slow decrease in visual acuity Bitemporal hemianopia Central adrenal insufficiency Impotence Central diabetes insipidus Cerebral ischemia Pituitary hypothyroidism Excessive daytime somnolence Prolactin excess Papilledema Proportionate short stature Hypopituitarism Orthostatic hypotension Polyphagia Numerous nevi Abnormal pulmonary valve morphology Elevated urinary dopamine Neonatal hypotonia Scapular winging Abnormality of the face Abnormality of the genital system Webbed neck Triangular face Thick vermilion border Joint hyperflexibility Pectus carinatum Low-set, posteriorly rotated ears Mandibular prognathia Hyperextensible skin Hyperkeratosis Brachycephaly Posteriorly rotated ears Short neck Intrauterine growth retardation Depressed nasal bridge Sensorineural hearing impairment Elevated urinary vanillylmandelic acid Elevated urinary homovanillic acid Aqueductal stenosis Melanoma Myelodysplasia Abnormal endocardium morphology Right ventricular hypertrophy Multiple lentigines Excessive wrinkled skin Abnormality of the pulmonary artery Abnormal localization of kidney Abnormal aortic valve morphology Shield chest Abnormal mitral valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Redundant neck skin Wolff-Parkinson-White syndrome Premature skin wrinkling Abnormality of the voice Sprengel anomaly Severe sensorineural hearing impairment Curly hair Atrioventricular canal defect Decreased fertility Abnormality of the ear External genital hypoplasia Bundle branch block Bilateral cryptorchidism Melanocytic nevus Complete atrioventricular canal defect Tibial bowing Brain neoplasm Dyscalculia Talon cusp Deviated nasal septum Premature thelarche Narrow maxilla Large foramen magnum Agoraphobia Bifid uterus Vascular ring Duplication of phalanx of hallux Chorioretinal dystrophy Papillary cystadenoma of the epididymis Keloids Duane anomaly Prominent fingertip pads Frontal upsweep of hair Bimanual synkinesia Short upper lip Parietal foramina Abnormality of the cervical spine Facial grimacing Enlarged tonsils High axial triradius Phonophobia Goiter Chondrosarcoma Gastroesophageal reflux Retrognathia Osteosarcoma Pituitary adenoma Exostoses Ovarian neoplasm Pes planus Thin upper lip vermilion EEG abnormality Abnormal number of teeth Deeply set eye Cerebral palsy Cranial nerve paralysis Osteolysis Intellectual disability, moderate Feeding difficulties in infancy Abnormality of the pinna Plantar crease between first and second toes Radial deviation of thumb terminal phalanx Tethered cord Broad distal phalanx of finger Polyhydramnios Exotropia Impulsivity Laryngomalacia Recurrent upper respiratory tract infections Bicuspid aortic valve Highly arched eyebrow Narrow palate Low anterior hairline Wide anterior fontanel Single transverse palmar crease Stereotypy Delayed cranial suture closure Dental crowding Long eyelashes Hypoplasia of dental enamel Broad thumb Hypoplasia of the maxilla Mitral regurgitation Low posterior hairline Dental malocclusion Convex nasal ridge Broad hallux Truncal obesity Respiratory tract infection Low hanging columella Abnormal cornea morphology Coloboma Unsteady gait Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Flared iliac wings Dyslexia Short attention span Hypoplastic iliac wing Capillary hemangioma Congenital glaucoma Obstructive sleep apnea Self-mutilation Patellar dislocation Poor coordination Thick eyebrow Shawl scrotum Hirsutism Dislocated radial head Iris coloboma Multiple exostoses Osteochondroma Myocardial fibrosis Visual loss Facial asymmetry Genu valgum Malabsorption Pruritus Attention deficit hyperactivity disorder Paralysis Autistic behavior Epicanthus Hyperreflexia Depressivity Peripheral axonal neuropathy Downslanted palpebral fissures Frontal bossing Cardiomyopathy Respiratory insufficiency Abnormality of the skeletal system Macrocephaly Dysarthria Peripheral neuropathy Respiratory distress Paresthesia Abnormality of skin pigmentation Abnormality of the dentition Back pain Gangrene Increased reactive oxygen species production Severe vision loss Osteomalacia Otitis media Pulmonary fibrosis Sensory axonal neuropathy Clitoral hypertrophy Precocious puberty Incoordination Lymphoma Reduced bone mineral density Atherosclerosis Spina bifida Sensorimotor neuropathy Hypsarrhythmia Abnormality of the cardiovascular system Flexion contracture Overgrowth High palate Atrial septal defect Polyarticular chondrocalcinosis Hemangiomatosis Congenital cataract Phthisis bulbi Iris atrophy Vitreous hemorrhage Retinal dysplasia Barrel-shaped chest Vitreoretinopathy Metaphyseal widening Clinodactyly of the 5th finger Inability to walk Platyspondyly Absent anterior chamber of the eye Corneal opacity Agenesis of corpus callosum Microphthalmia Polydactyly Narrow mouth Muscle weakness Proptosis Neoplasm of the parathyroid gland Neoplasm of the adrenal cortex Severe platyspondyly Renal insufficiency Elevated alkaline phosphatase of bone origin Generalized osteoporosis Parathyroid carcinoma Calcium nephrolithiasis Abnormality of the parathyroid gland Mitral valve calcification Aortic valve calcification Parathyroid hyperplasia Syndactyly Peptic ulcer Primary hyperparathyroidism Elevated circulating parathyroid hormone level Patent ductus arteriosus Hyperphosphaturia Immunodeficiency Hyperparathyroidism Hypercalcemia Polycystic kidney dysplasia Hypercalciuria Nephrocalcinosis Nephrolithiasis Ventricular hypertrophy Abnormality of the frontal bone



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