Neuroblastoma, and Omphalocele

Diseases related with Neuroblastoma and Omphalocele

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


Top matches:

High match BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION


Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

High 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

High match BECKWITH-WIEDEMANN SYNDROME; BWS


Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Medium match ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY


Isolated thyroid-stimulating hormone (TSH) deficiency is a type of central congenital hypothyroidism (see this term), a permanent thyroid deficiency that is present from birth, characterized by low levels of thyroid hormones due to a deficiency in TSH synthesis.

ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY Is also known as isolated thyrotropin deficiency|thyrotropin deficiency, isolated|pituitary cretinism|isolated tsh deficiency|tsh deficiency|thyroid-stimulating hormone deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Depressed nasal bridge
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about ISOLATED THYROID-STIMULATING HORMONE DEFICIENCY

Medium 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

Medium match PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM


PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM Is also known as platelet disorder, aspirin-like|thrombocytopenia, familial, with propensity to acute myelogenous leukemia|fpd/aml

Related symptoms:

  • Anemia
  • Thrombocytopenia
  • Hernia
  • Hypospadias
  • Umbilical hernia


SOURCES: OMIM MENDELIAN

More info about PLATELET DISORDER, FAMILIAL, WITH ASSOCIATED MYELOID MALIGNANCY; FPDMM

Medium 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 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

Top 5 symptoms//phenotypes associated to Neuroblastoma and Omphalocele

Symptoms // Phenotype % cases
Umbilical hernia Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Macroglossia

Uncommon Symptoms - Between 30% and 50% cases


Large for gestational age

Common Symptoms - More than 50% cases


Hypoglycemia

Uncommon Symptoms - Between 30% and 50% cases


Abnormal heart morphology

Common Symptoms - More than 50% cases


Coarse facial features

Uncommon Symptoms - Between 30% and 50% cases


Inguinal hernia

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Polyhydramnios

Uncommon Symptoms - Between 30% and 50% cases


Diastasis recti Abnormality of cardiovascular system morphology Neonatal hypoglycemia Enlarged kidney Neoplasm Proptosis Depressed nasal bridge Abnormal facial shape Overgrowth Hernia Ventricular septal defect Wide mouth Global developmental delay Hypertelorism Hypothyroidism Muscular hypotonia Rhabdomyosarcoma Hypertension Macrocephaly Epicanthus Short nose Micrognathia Scoliosis Nephroblastoma Short neck Embryonal neoplasm Pectus excavatum Polydactyly Low-set, posteriorly rotated ears Hypospadias Nevus flammeus Hemihypertrophy Visceromegaly Splenomegaly Premature birth Posterior helix pit Intellectual disability, mild Hepatoblastoma Hearing impairment Delayed speech and language development Cutis laxa Cardiomyopathy Edema Atrial septal defect Motor delay Posteriorly rotated ears Long philtrum Wide nasal bridge High palate Postaxial polydactyly Low-set ears Short stature Nevus Dandy-Walker malformation Upslanted palpebral fissure Intellectual disability, severe Redundant skin Anteverted nares Strabismus Talipes equinovarus Relative macrocephaly Accelerated skeletal maturation Congenital diaphragmatic hernia Renal cyst Anterior creases of earlobe Abdominal wall defect Abnormality of the face Wide anterior fontanel Large fontanelles Abnormality of the outer ear Abnormality of earlobe Patent ductus arteriosus Abnormality of the kidney

Rare Symptoms - Less than 30% cases


Congenital hypothyroidism Constipation Abnormality of the genital system Vitreomacular adhesion Nephroblastomatosis Wide nose Failure to thrive in infancy Abnormality of the helix Thick vermilion border High, narrow palate Severe postnatal growth retardation Renal cortical cysts Short chin Webbed neck Syringomyelia Sleep disturbance Growth hormone deficiency Broad palm Hamartoma Postaxial hand polydactyly Hypercalciuria Thin vermilion border Midface retrusion Apnea Syndactyly Growth delay Failure to thrive Irritability Central hypotonia Cleft lip Pulmonic stenosis Agenesis of corpus callosum Clinodactyly of the 5th finger Arrhythmia Facial asymmetry Abnormality of the dentition Delayed skeletal maturation Hydrocephalus Supernumerary nipple Abnormality of the skeletal system Downslanted palpebral fissures Prune belly Auricular pit Congestive heart failure Toe syndactyly Obesity Clinodactyly Tricuspid regurgitation Hyperactivity Microcephaly Respiratory insufficiency Prominent metopic ridge Adrenocortical carcinoma Gonadoblastoma Hoarse voice Vesicoureteral reflux Ureteral duplication Intrauterine growth retardation Adrenocortical cytomegaly Pseudohypoparathyroidism Multicystic kidney dysplasia Abdominal distention Cardiomegaly Nephrolithiasis Abnormality of the skin Full cheeks Hypoplasia of dental enamel Tall stature Neurodevelopmental delay Intellectual disability, moderate Postural instability Mandibular prognathia Arnold-Chiari malformation Feeding difficulties Joint hypermobility Aplasia/Hypoplasia of the abdominal wall musculature Hydronephrosis Ulnar deviation of finger Carcinoma Respiratory failure Prominent occiput Hypertrophic cardiomyopathy Feeding difficulties in infancy Neurological speech impairment Astigmatism Joint hyperflexibility Tachycardia Sepsis Hematuria Ascites Tetraplegia Hip dysplasia Eczema Delayed puberty Cerebral cortical atrophy Hypermetropia Pes cavus Hypogonadism Hyperkeratosis Gastroesophageal reflux Kyphoscoliosis Hyperhidrosis Osteoporosis Severe short stature Absent speech Arthrogryposis multiplex congenita Osteopenia Cerebral atrophy Abnormality of the nervous system Joint laxity Postnatal growth retardation Sparse hair Pectus carinatum Renal insufficiency Cognitive impairment Autistic behavior Blepharophimosis Thickened skin Hypertrichosis Short palpebral fissure Febrile seizures Wide intermamillary distance Microcornea Flat face Severe global developmental delay Microtia Retinopathy Abnormality of the pinna Scrotal hypoplasia Telecanthus High forehead Narrow mouth Brachycephaly Microphthalmia Hypoplasia of the corpus callosum Refractory anemia Impaired platelet aggregation Acute monocytic leukemia Acute leukemia Generalized hirsutism Optic nerve hypoplasia Myopathy Upper limb asymmetry Ventriculomegaly Dysphagia Frontal bossing Myopia Dysarthria Ptosis Nystagmus Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Median cleft palate Overfolded helix Broad eyebrow Periorbital fullness Lower limb asymmetry External ear malformation Irregular hyperpigmentation Hypoplastic nipples Cerebellar vermis atrophy Abnormality of the musculature Long fingers Overlapping toe Mitral valve prolapse Keratoconus Apraxia Limited elbow movement Capillary malformation Triangular mouth Thickened Achilles tendon Melena Hematemesis Deep plantar creases Thin nail Large face Papilloma Bronchomalacia Fetal distress Schwannoma Abnormal pulmonary valve morphology Broad femoral neck 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 Bladder neoplasm Congenital neuroblastoma Abnormality of the testis Vestibular Schwannoma Myofiber disarray Enlarged cerebellum Macrocephaly at birth Loose anagen hair Cardiomyocyte hypertrophy Bladder carcinoma Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Deep-set nails Frontal hirsutism Lymphangiectasis Ganglioneuroblastoma Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Tendon rupture Duodenal ulcer Alveolar rhabdomyosarcoma Redundant neck skin Lack of skin elasticity Epidermal acanthosis Abnormality of the fingernails Heart murmur Pleural effusion Aortic aneurysm Pyloric stenosis Hyperextensible skin Poor suck Laryngomalacia Hemangioma Infantile muscular hypotonia Abnormal dermatoglyphics Acanthosis nigricans Abnormality of dental enamel Bilateral cryptorchidism Narrow palate Pointed chin Abnormality of the hair Cafe-au-lait spot Hydrops fetalis Lymphedema Hyperpigmentation of the skin Long eyelashes Decreased body weight Atrial fibrillation Thick lower lip vermilion Hyperglycemia Hypoplastic toenails Central apnea Progeroid facial appearance Verrucae Large forehead Achilles tendon contracture Thick upper lip vermilion Systolic heart murmur Large earlobe Acute myeloid leukemia Increased corneal curvature Woolly hair Muscle weakness Micropenis Barrel-shaped chest Rocker bottom foot Megalencephaly Fragile nails Thickened nuchal skin fold Microscopic hematuria Obstructive sleep apnea Soft skin Arnold-Chiari type I malformation Tracheomalacia Generalized hyperpigmentation Rhabdomyolysis Curly hair Reduced subcutaneous adipose tissue Acute lymphoblastic leukemia Jaundice Prolonged bleeding time Fibrous hamartoma Short palm Cleft upper lip Congenital cataract Finger syndactyly Camptodactyly of finger Blindness Cataract Congenital mesoblastic nephroma Pancreatoblastoma Pancreatic hyperplasia Retinal detachment Overgrowth of external genitalia Thymus hyperplasia Abdominal mass Opsoclonus Ganglioneuroma Flank pain Teratoma Diaphragmatic eventration Unilateral cryptorchidism Abnormality of the tongue Short distal phalanx of finger Short foot Hypoplasia of the thymus Cerebral visual impairment Preauricular pit Cupped ear Abnormality of the voice Abnormality of the hand Narrow palpebral fissure Congenital hip dislocation Cardiac arrest Short toe Preauricular skin tag Renal dysplasia Broad nasal tip Broad thumb Clumsiness Cerebellar vermis hypoplasia Small nail Abnormality of the ribs Hypoplasia of penis Nail dysplasia Dental malocclusion Intestinal malrotation Bifid uvula Pancreatic cysts Nonimmune hydrops fetalis Hydroureter Melanocytic nevus Urogenital fistula Leiomyosarcoma Elevated alpha-fetoprotein Choroideremia Asymmetric growth Otosclerosis Multiple renal cysts Exocrine pancreatic insufficiency Polycythemia Sleep apnea Infra-orbital crease Prominent nose Nephropathy Long face Poor speech Autism Postauricular pit Tethered cord Skin tags Abnormality of the vasculature Psoriasiform dermatitis Facial hemangioma Branchial cyst Ketosis Recurrent urinary tract infections Foot polydactyly Protuberant abdomen Aniridia Tibial bowing Abnormality of the ear Large hands Prominent supraorbital ridges Polycystic kidney dysplasia Growth abnormality Nephrocalcinosis Pulmonary hypoplasia Large placenta Attention deficit hyperactivity disorder Conductive hearing impairment Myoclonus Respiratory distress Pain Subchorionic septal cyst Large intestinal polyposis Abnormality of the shape of the midface Abnormality of pancreas morphology Congenital megaureter Bilateral talipes equinovarus Bundle branch block Myelodysplasia Sacral dimple Abnormality of immune system physiology Dislocated radial head Biparietal narrowing Multiple joint contractures Radial deviation of finger Clitoral hypertrophy Trigonocephaly Hand polydactyly Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Postaxial foot polydactyly Joint dislocation Horseshoe kidney Bilateral single transverse palmar creases Gingival overgrowth Intellectual disability, profound Tetralogy of Fallot Limb undergrowth Short metacarpal Limitation of joint mobility Hirsutism Anal stenosis Abnormal hair pattern Micromelia Fused sternal ossification centers Purpura Epistaxis Lymphoma Abnormal bleeding Neutropenia Bruising susceptibility Leukemia Thrombocytopenia Anemia Thick anterior alveolar ridges Medulloblastoma Midline facial capillary hemangioma Right-to-left shunt Hypoplasia of the ear cartilage Conotruncal defect Pseudohypoaldosteronism Female pseudohermaphroditism Metopic synostosis Abnormality of the anus Accessory oral frenulum Broad alveolar ridges Oral cleft Smooth philtrum Prolonged QT interval Flared iliac wings Short 2nd finger Penoscrotal hypospadias Broad toe Meckel diverticulum Cervical ribs Pancreatic islet-cell hyperplasia Chordee Increased IgE level Ankyloglossia Furrowed tongue 2-3 finger syndactyly Renal neoplasm Duodenal atresia Polysplenia Low hanging columella Broad foot Abnormal lung lobation Transposition of the great arteries Abnormality of digit Vertebral fusion Vertebral segmentation defect Short sacroiliac notch Narrow sacroiliac notch Talipes Hypopituitarism Hip dislocation Craniosynostosis Neonatal hypotonia Brachydactyly Flexion contracture Craniopharyngioma Hypothalamic hypothyroidism Narcolepsy Hoarse cry Pituitary hypothyroidism Intellectual disability, progressive Broad secondary alveolar ridge Abnormality of metabolism/homeostasis Fatigue Two carpal ossification centers present at birth Cyst of the ductus choledochus Cleft lower lip Submucous cleft lip Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Abnormality of the ureter



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Inguinal hernia, related diseases and genetic alterations Motor delay and Alopecia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more