Neuroblastoma, and Hypopigmentation of the skin

Diseases related with Neuroblastoma and Hypopigmentation of the skin

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


Top matches:

Low match CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME


Constitutional mismatch repair deficiency syndrome is a rare, inherited cancer-predisposing syndrome characterized by the development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers, although embryonic and other tumors have also been occasionally reported. Non-neoplastic features, in particular manifestations reminiscent of neurofibromatosis type 1 (e.g., café-au-lait spots, freckling, neurofibromas), as well as premalignant and non-malignant lesions (such as adenomas/polpyps) are frequently present before malignancy development.

CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME Is also known as constitutional mismatch repair deficiency syndrome|mismatch repair deficiency|btps1|cmmr-d syndrome|mmr deficiency|childhood cancer syndrome|btp1 syndrome|cmmrds|turcot syndrome|brain tumor-polyposis syndrome 1

Related symptoms:

  • Neoplasm
  • Agenesis of corpus callosum
  • Carcinoma
  • Leukemia
  • Neutropenia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CONSTITUTIONAL MISMATCH REPAIR DEFICIENCY SYNDROME

Low match FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN


Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP N; FANCN

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

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Other less relevant matches:

Low match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Low match CURRY-JONES SYNDROME


Curry-Jones syndrome is a form of syndromic craniosynostosis characterized by unilateral coronal craniosynostosis or multiple suture synostosis associated with complete or partial agenesis of the corpus callosum, preaxial polysyndactyly and syndactyly of hands and/or feet, along with anomalies of the skin (characteristic pearly white areas that become scarred and atrophic, abnormal hair growth around the eyes and/or cheeks, and on the limbs), eyes (iris colobomas, microphthalmia,) and intestine (congenital short gut, malrotation, dysmotility, chronic constipation, bleeding and myofibromas). Developmental delay and variable degrees of intellectual disability may also be observed. Multiple intra-abdominal smooth muscle hamartomas, trichoblastoma of the skin, occipital meningoceles and development of desmoplastic medulloblastoma have been reported.

CURRY-JONES SYNDROME Is also known as corpus callosum agenesis-polysyndactyly syndrome|craniofacial malformations, asymmetric, with polysyndactyly and abnormal skin and gut development

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CURRY-JONES SYNDROME

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 RETINOBLASTOMA; RB1


Retinoblastoma (RB) is an embryonic malignant neoplasm of retinal origin. It almost always presents in early childhood and is often bilateral. Spontaneous regression ('cure') occurs in some cases. The retinoblastoma gene (RB1) was the first tumor suppressor gene cloned. It is a negative regulator of the cell cycle through its ability to bind the transcription factor E2F (OMIM ) and repress transcription of genes required for S phase (Hanahan and Weinberg, 2000).

RETINOBLASTOMA; RB1 Is also known as rb

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Nystagmus
  • Neoplasm


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINOBLASTOMA; RB1

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

Low match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Low match TUBEROUS SCLEROSIS COMPLEX


Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis|bourneville syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBEROUS SCLEROSIS COMPLEX

Top 5 symptoms//phenotypes associated to Neuroblastoma and Hypopigmentation of the skin

Symptoms // Phenotype % cases
Neoplasm Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Cafe-au-lait spot Uncommon - Between 30% and 50% cases
Microcephaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Seizures Cleft palate Abnormality of the face Abnormality of cardiovascular system morphology Short neck Rhabdomyosarcoma Medulloblastoma Hypertelorism Leukemia Neurofibromas Sarcoma Carcinoma Abnormality of the musculature Short stature Generalized hypotonia Hearing impairment Cryptorchidism Depressed nasal bridge Subcutaneous nodule Hypospadias Brachycephaly Growth delay Lymphoma Freckling Multiple cafe-au-lait spots Astrocytoma Nephroblastoma

Rare Symptoms - Less than 30% cases


Mandibular prognathia Motor delay Inguinal hernia Pectus excavatum Microphthalmia Intellectual disability, mild Congestive heart failure Wide nasal bridge Proptosis Specific learning disability Abnormality of neuronal migration Myelodysplasia Low-set ears Upslanted palpebral fissure Increased intracranial pressure Abnormal facial shape Micrognathia Scoliosis Melanocytic nevus Agenesis of corpus callosum Attention deficit hyperactivity disorder Leiomyosarcoma Wolff-Parkinson-White syndrome Posteriorly rotated ears Hypertrophic cardiomyopathy Arrhythmia Cataract Dilatation Intrauterine growth retardation Cognitive impairment Anal stenosis Autism Hypopigmented skin patches Hypothyroidism Iris coloboma Ptosis Hyperactivity Neoplasm of the pancreas Nystagmus Umbilical hernia Hamartoma Prominent occiput Respiratory insufficiency Generalized hirsutism Prominent nose Nevus flammeus Abnormality of the skin Nevus Microcornea Blepharophimosis Low-set, posteriorly rotated ears Gingival fibromatosis Multiple renal cysts Anal atresia Ependymoma Anemia Acute monocytic leukemia Chromosome breakage Abnormality of the hair Acute myeloid leukemia Glioma Basal cell carcinoma Epicanthus Pain Abnormality of the kidney Small for gestational age Irregular hyperpigmentation Acute lymphoblastic leukemia Glioblastoma multiforme Cardiac rhabdomyoma Long nose Non-midline cleft lip Combined immunodeficiency Chronic diarrhea Bronchiectasis Subependymal nodules Premature ovarian insufficiency Low anterior hairline Deep philtrum Telangiectasia Sinusitis Lymphopenia Recurrent pneumonia Cachexia Hearing abnormality Cortical tubers Angiofibromas Mastoiditis Malar prominence Dysgammaglobulinemia Penoscrotal hypospadias Anorectal anomaly Recurrent infection of the gastrointestinal tract T-cell lymphoma Pollakisuria B lymphocytopenia Renal angiomyolipoma Retinal hamartoma Autoimmune hemolytic anemia Decrease in T cell count Abnormal hair quantity Abnormality of chromosome stability Chordoma Recurrent sinopulmonary infections B-cell lymphoma Recurrent bronchitis Abnormal eyelid morphology Acute leukemia Choanal atresia Recurrent urinary tract infections Subchorionic septal cyst Primary amenorrhea Pinealoma Pulmonary lymphangiomyomatosis Skeletal muscle atrophy Achromatic retinal patches Muscle weakness Ataxia Neuroblastic tumors Pineoblastoma Subungual fibromas Retinal calcification Iris neovascularization Immunodeficiency Pineal cyst Ewing sarcoma Hyphema Neoplasm of the eye Sebaceous gland carcinoma Liposarcoma Histiocytoma Rhabdomyoma Vitritis Diarrhea Thrombocytopenia Cutaneous photosensitivity Cleft upper lip Sloping forehead Hypomelanotic macule Amenorrhea Dental enamel pits Convex nasal ridge Otitis media Ungual fibroma Neurodegeneration Hemolytic anemia Prominent nasal bridge Pneumonia Mental deterioration Intellectual disability, moderate Abnormality of the nervous system Hydronephrosis Retrognathia Macrotia Respiratory failure Confetti-like hypopigmented macules Recurrent respiratory infections Progressive vitiligo Optic nerve glioma Hepatomegaly Anterior creases of earlobe Cortical dysplasia Facial hemangioma Urogenital fistula Macule Elevated alpha-fetoprotein Infantile spasms Renal cell carcinoma Hepatoblastoma Choroideremia Adrenocortical carcinoma Gingivitis Asymmetric growth Skin tags Abnormality of earlobe Pseudohypoparathyroidism Otosclerosis Ureteral duplication Abnormality of the respiratory system Visceromegaly Emphysema Infra-orbital crease Hemihypertrophy Anxiety Abnormality of the shape of the midface Optic atrophy Adrenocortical cytomegaly Abnormality of pancreas morphology Congenital megaureter Large placenta Behavioral abnormality Renal insufficiency EEG abnormality Abnormality of the liver Precocious puberty Papule Renal cyst Cerebral calcification Generalized-onset seizure Bradycardia Aplasia/Hypoplasia of the corpus callosum Posterior helix pit Branchial cyst Atrioventricular block Gonadoblastoma Diastasis recti Macrocephaly Feeding difficulties in infancy Congenital diaphragmatic hernia Premature birth Vesicoureteral reflux Macroglossia Nephropathy Long face Poor speech Neurological speech impairment Wide mouth Third degree atrioventricular block Chylothorax Hypoglycemia Coarse facial features Polyhydramnios Shagreen patch Macrodactyly Large intestinal polyposis Obesity Midface retrusion Splenomegaly Adenoma sebaceum Cardiomegaly Fibrosarcoma Large for gestational age Abnormality of the pancreas Neonatal hypoglycemia Enlarged kidney Pneumothorax Exocrine pancreatic insufficiency Prominent metopic ridge Polycythemia Neurodevelopmental delay Abnormality of the pleura Redundant skin Omphalocele Hypercalciuria Relative macrocephaly Arnold-Chiari malformation Sleep apnea Accelerated skeletal maturation Wide anterior fontanel Tall stature Nephrolithiasis Large fontanelles Burkitt lymphoma Premature skin wrinkling Malar rash Abnormal heart morphology Full cheeks Flat face Severe global developmental delay Microtia Retinopathy Abnormality of the pinna Telecanthus High forehead Narrow mouth Hernia Febrile seizures Long philtrum Edema Hypoplasia of the corpus callosum Delayed speech and language development High palate Benign neoplasm of the central nervous system Abnormality of connective tissue Abnormal sacrum morphology Fibroma Wide intermamillary distance Dandy-Walker malformation Chondrocalcinosis Hypoplastic nipples Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Periorbital fullness Lower limb asymmetry External ear malformation Cerebellar vermis atrophy Short palpebral fissure Long fingers Overlapping toe Tricuspid regurgitation Overfolded helix Optic nerve hypoplasia Scrotal hypoplasia Cutis laxa Thickened skin Hypoplasia of dental enamel Hypertrichosis Bone cyst Abnormality of the skull Syndactyly Brain neoplasm Adenocarcinoma of the colon Acute myelomonocytic leukemia Gray matter heterotopias Axillary freckling Colorectal polyposis Intestinal polyp Neoplasm of the central nervous system Lisch nodules Intestinal polyposis Pituitary adenoma Ventricular septal defect Abnormality of abdomen morphology Hodgkin lymphoma Multiple lipomas Colon cancer Hypermelanotic macule Heterotopia Sepsis Neutropenia Failure to thrive Atrial septal defect Neoplasm of the lung Osteolysis Ankylosis Hemiplegia/hemiparesis Tracheoesophageal fistula Intestinal obstruction Abnormality of the thorax Hypercalcemia Hemiplegia Abnormal intestine morphology Neoplasm of the skin Skin ulcer Postnatal growth retardation Gingival overgrowth Abnormality of the metaphysis Limitation of joint mobility Abnormality of the eye Chromosomal breakage induced by crosslinking agents Embryonal neoplasm Aplastic anemia Bone marrow hypocellularity Hyperpigmentation of the skin Short thumb Ventriculomegaly Polydactyly Leukocoria Shield chest Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Abnormal endocardium morphology Multiple lentigines Excessive wrinkled skin Abnormality of the pulmonary artery Abnormal localization of kidney Abnormal aortic valve morphology Abnormal mitral valve morphology Visual impairment Aplasia/Hypoplasia of the abdominal wall musculature Redundant neck skin Right ventricular hypertrophy Sprengel anomaly Severe sensorineural hearing impairment Curly hair Atrioventricular canal defect Decreased fertility Abnormality of the ear Strabismus Hydrocephalus Bundle branch block Uveitis Soft tissue sarcoma Anisocoria Ocular pain Vitreous hemorrhage Retinoblastoma Inflammatory abnormality of the eye Buphthalmos Anemia of inadequate production Osteosarcoma Cellulitis Blindness Anorexia Postural instability Abnormality of skin pigmentation Skin rash Weight loss Glaucoma Visual loss Headache Malar flattening Vomiting External genital hypoplasia Bilateral cryptorchidism Craniosynostosis Bilateral ptosis Anterior plagiocephaly Optic nerve coloboma Chronic constipation Arnold-Chiari type I malformation Foot polydactyly Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Preaxial hand polydactyly Preaxial polydactyly Narrow palpebral fissure Hemimegalencephaly Horizontal nystagmus Broad thumb Intestinal malrotation Hirsutism Polymicrogyria Facial asymmetry Toe syndactyly Finger syndactyly Coloboma Cutaneous syndactyly of toes Duplication of thumb phalanx Abnormality of the voice Webbed neck Hyperextensible skin Melanoma Spina bifida occulta Scapular winging Left ventricular hypertrophy Abnormality of the genital system Myocardial infarction Mitral valve prolapse Tetralogy of Fallot Triangular face Abnormality of thumb phalanx Thick vermilion border Joint hyperflexibility Delayed puberty Pulmonic stenosis Pectus carinatum Neonatal hypotonia Hyperkeratosis Delayed skeletal maturation Muscular hypotonia Sensorineural hearing impairment Subependymal giant-cell astrocytoma



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