Neuroblastoma, and Abnormality of the ribs

Diseases related with Neuroblastoma and Abnormality of the ribs

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


Top matches:

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 NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

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

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Other less relevant matches:

Low 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

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 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 PALLISTER-HALL SYNDROME; PHS


Pallister-Hall syndrome is a pleiotropic autosomal dominant disorder comprising hypothalamic hamartoma, pituitary dysfunction, central polydactyly, and visceral malformations (Biesecker et al., 1996).

PALLISTER-HALL SYNDROME; PHS Is also known as hypothalamic hamartoblastoma, hypopituitarism, imperforate anus, and postaxial polydactyly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay


SOURCES: OMIM MESH MENDELIAN

More info about PALLISTER-HALL SYNDROME; PHS

Low match HYPOTHALAMIC HAMARTOMAS


Related symptoms:

  • Neoplasm
  • Micrognathia
  • Cleft palate
  • Depressed nasal bridge
  • Macrocephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOTHALAMIC HAMARTOMAS

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 CHOROID PLEXUS CARCINOMA


Choroid plexus carcinoma is a rare and highly aggressive malignant type of choroid plexus tumor (see this term) occurring almost exclusively in children, presenting with cerebrospinal fluid obstruction in the lateral ventricles (most common), the fourth and third ventricles or in multiple ventricles, leading to hydrocephalus and increased intracranial pressure, and manifesting with nausea, vomiting, abnormal eye movements, gait impairment, seizures and enlarged head circumference.

CHOROID PLEXUS CARCINOMA Is also known as sgs

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHOROID PLEXUS CARCINOMA

Top 5 symptoms//phenotypes associated to Neuroblastoma and Abnormality of the ribs

Symptoms // Phenotype % cases
Depressed nasal bridge Common - Between 50% and 80% cases
Abnormality of cardiovascular system morphology Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Neoplasm

Uncommon Symptoms - Between 30% and 50% cases


Hypospadias

Common Symptoms - More than 50% cases


Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Posteriorly rotated ears Short neck Abnormal facial shape Cleft palate Low-set ears Hearing impairment Short stature Low-set, posteriorly rotated ears Atrial septal defect Micropenis Patent ductus arteriosus Abnormality of the genital system Epicanthus Scrotal hypoplasia Postaxial hand polydactyly Hydronephrosis Abnormality of the kidney Downslanted palpebral fissures Short nose Wide nasal bridge Ventricular septal defect Anteverted nares Generalized hypotonia Scoliosis Growth delay Pectus excavatum Syndactyly High palate Abnormal lung lobation Cataract Pain Cardiomyopathy Hydroureter Renal cyst Hernia Brachydactyly Upslanted palpebral fissure Hypothyroidism Cleft upper lip Microcephaly Bifid uvula Renal dysplasia Hamartoma Hydrocephalus Webbed neck Sensorineural hearing impairment Muscular hypotonia Ptosis Cognitive impairment Hypertrichosis Intellectual disability, mild Dilatation Brachycephaly Neurofibromas Mandibular prognathia Microtia Pulmonic stenosis Feeding difficulties Failure to thrive Hypoplasia of the corpus callosum Abnormality of the skeletal system Macrocephaly Abnormality of the face

Rare Symptoms - Less than 30% cases


Intellectual disability, severe Patent foramen ovale Talipes equinovarus Polydactyly Obesity Hypothalamic hamartoma Inguinal hernia Clinodactyly of the 5th finger Primitive neuroectodermal tumor Failure to thrive in infancy Neurological speech impairment Umbilical hernia Camptodactyly of finger Preductal coarctation of the aorta Microglossia Abnormality of the thorax High forehead Hypertension Arnold-Chiari type I malformation Agenesis of corpus callosum Coarse facial features Microphthalmia Toe syndactyly Midface retrusion Irregular hyperpigmentation Infantile spasms Delayed speech and language development Ventriculomegaly Behavioral abnormality Long philtrum Malar flattening Cerebral atrophy Prominent forehead Hemiplegia/hemiparesis Narrow mouth Camptodactyly Abnormality of the pinna Blepharophimosis Generalized hirsutism Telangiectasia Hepatic steatosis Abnormality of the skin Abnormality of the musculature Abnormal intestine morphology Short distal phalanx of finger Hypoplasia of penis Single transverse palmar crease Postaxial polydactyly Short foot Macroglossia Hip dislocation Intestinal malrotation Nail dysplasia Dandy-Walker malformation Abnormality of the eye Small nail Tricuspid regurgitation Narrow palpebral fissure Hypoplastic labia minora Hepatoblastoma Embryonal neoplasm Rib fusion Lower limb asymmetry Bicuspid aortic valve Hypsarrhythmia Splenomegaly Nystagmus Nevus Tetralogy of Fallot Congestive heart failure Aplasia/Hypoplasia of the abdominal wall musculature Subcutaneous nodule High, narrow palate Left ventricular hypertrophy Cafe-au-lait spot Shield chest Facial asymmetry Multiple lentigines External genital hypoplasia Bundle branch block Bilateral cryptorchidism Strabismus Dental malocclusion Myopia Fever Abnormal cardiac septum morphology Postnatal growth retardation Myelodysplasia Gastroesophageal reflux Polyhydramnios Abnormality of the voice Proptosis Abdominal pain Hypogonadism Constipation Clinodactyly Edema Triangular face Redundant neck skin Ventricular hypertrophy Coarctation of aorta Hypoplastic nipples Wide intermamillary distance Arrhythmia Hypertrophic cardiomyopathy Delayed skeletal maturation Intrauterine growth retardation Neonatal hypotonia Clumsiness Thick vermilion border Ocular albinism Abnormality of the anus Gastric ulcer Abnormality of the optic disc Expressive language delay Short 5th finger Abnormal renal physiology Coronal craniosynostosis Abnormality of brain morphology Abnormality of the gastrointestinal tract Aortic arch aneurysm Abnormal eyebrow morphology Annular pancreas Muscle flaccidity Hiatus hernia Alacrima Teratoma Missing ribs Abnormality of female external genitalia Abnormality of the mandible Left ventricular noncompaction Colpocephaly Wide cranial sutures Thickened helices Sclerosis of skull base Delayed closure of the anterior fontanelle Abnormality of the spleen Long clavicles Biliary tract abnormality Abnormality of chromosome stability Cavum septum pellucidum Periventricular leukomalacia Optic nerve coloboma Abnormal corpus callosum morphology Volvulus Impaired social interactions Delayed CNS myelination Dilation of lateral ventricles Abnormality of the testis 11 pairs of ribs Lambdoidal craniosynostosis Abnormality of the neck Abnormal left ventricle morphology Long fingers Abnormality of the nasopharynx Self-mutilation Aplasia/Hypoplasia of the pubic bone Sacrococcygeal teratoma Pyloric stenosis Abnormality of vision Delayed gross motor development Infantile muscular hypotonia Sacral dimple Hypoplasia of first ribs Aplasia/Hypoplasia of the corpus callosum Metopic suture patent to nasal root Leukoencephalopathy Hypercholesterolemia Cranial nerve paralysis Self-injurious behavior Spastic tetraparesis Pointed chin Wide anterior fontanel Short phalanx of finger Stereotypy Increased density of long bones Large fontanelles Decreased body weight Heterotopia Pachygyria Mitral regurgitation Depressed nasal ridge Hand polydactyly Facial hemangioma Overweight Abnormality of the immune system Epileptic spasms Foot polydactyly Spinal canal stenosis Horizontal eyebrow Aortic root aneurysm Submucous cleft hard palate Congenital hypothyroidism Anteriorly placed anus Slender long bone Telangiectasia of the skin Absent septum pellucidum Abnormal heart valve morphology Thickened cortex of long bones Hyperconvex nail High hypermetropia Macule Widely patent fontanelles and sutures Polyphagia Hypermelanotic macule Dysphasia Delayed cranial suture closure Metatarsus adductus Ureteral stenosis Congenital sensorineural hearing impairment Clitoral hypertrophy Short sternum Short 1st metacarpal Abnormal external genitalia Bilateral choanal atresia Y-shaped metacarpals Mesoaxial hand polydactyly Thyroid dysgenesis Mesoaxial polydactyly Periorbital fullness Laryngeal cleft Radial head subluxation Broad eyebrow Hydrometrocolpos Hypoplasia of the epiglottis Mandibular aplasia Median cleft palate Microphallus Bifid epiglottis Vaginal atresia Panhypopituitarism Decreased circulating cortisol level Upper airway obstruction Short 4th metacarpal Upper limb asymmetry Adrenal hypoplasia Postaxial foot polydactyly Oligodactyly Tetraparesis Abnormality of the scrotum Natal tooth Distal urethral duplication Distal shortening of limbs Ectopic kidney Retinopathy Overfolded helix Cerebellar vermis atrophy Optic nerve hypoplasia Cutis laxa Thickened skin Hypoplasia of dental enamel Short palpebral fissure Febrile seizures Full cheeks Microcornea Flat face Severe global developmental delay Telecanthus Midline facial capillary hemangioma External ear malformation Motor delay Glioma Anterior hypopituitarism Median cleft lip Occipital encephalocele Short ribs Pulmonary hypoplasia Micromelia Skeletal dysplasia Diverticulosis of trachea Mesoaxial foot polydactyly Mesomelia Adrenal insufficiency Talipes valgus Bilobate gallbladder Choanal stenosis Respiratory failure Hypoplastic labia majora Agenesis of the anterior commissure Broad ribs Solitary renal cyst Abnormality of the renal pelvis Abnormality of the cerebral ventricles Abnormal parietal bone morphology Hyperplastic labia majora Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Overlapping toe Dyspnea Widened subarachnoid space Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Bifid ribs Hypoplastic female external genitalia Abnormality of the hairline Oppositional defiant disorder Asymmetry of the ears Bicornuate uterus Noncompaction cardiomyopathy Cranial nerve VI palsy Abnormal social behavior Vocal cord paralysis Respiratory tract infection Precocious puberty Choanal atresia Increased number of skin folds Atresia of the external auditory canal Localized neuroblastoma Spasticity Cutaneous syndactyly Holoprosencephaly Paralysis Confusion Neurodegeneration Sensory impairment Microretrognathia Hemivertebrae Renal hypoplasia Arachnoid cyst Limb undergrowth Decreased testicular size Renal agenesis Growth hormone deficiency Sloping forehead Progressive neurologic deterioration Wormian bones Anal atresia Radioulnar synostosis Diabetes insipidus Opisthotonus Tibial bowing Shallow orbits Hypopituitarism Cleft lower lip Interphalangeal joint contracture of finger Lymphangioma Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Optic disc hypoplasia Ataxia Asymmetry of the thorax Schwannoma Synovitis Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Gonadal dysgenesis Abnormality of blood and blood-forming tissues Abnormality of the vertebral column Male infertility Postductal coarctation of the aorta Anemia Abnormality of color vision Elevated urinary dopamine Congenital cataract Finger syndactyly Wide mouth Irritability Cleft lip Hypoglycemia Abnormality of the dentition Blindness Hepatomegaly Elevated urinary vanillylmandelic acid Elevated urinary homovanillic acid Elevated urinary catecholamines Abdominal mass Diarrhea Opsoclonus Adrenal calcification Ganglioneuroblastoma Horner syndrome Neoplasm of the nervous system Ganglioneuroma Paraganglioma Skin nodule Spinal cord compression Bone pain Weight loss Myoclonus Cystic hygroma Leukocytosis Short palm Decreased fertility Abnormal localization of kidney Abnormal aortic valve morphology Abnormal mitral valve morphology Wolff-Parkinson-White syndrome Right ventricular hypertrophy Premature skin wrinkling Sprengel anomaly Severe sensorineural hearing impairment Curly hair Multiple cafe-au-lait spots Freckling Atrioventricular canal defect Abnormality of the ear Excessive wrinkled skin Melanocytic nevus Hyperextensible skin Melanoma Spina bifida occulta Scapular winging Myocardial infarction Mitral valve prolapse Specific learning disability Joint hyperflexibility Delayed puberty Pectus carinatum Hyperkeratosis Abnormality of the pulmonary artery Abnormal endocardium morphology Abnormality of the coagulation cascade Amenorrhea Radial deviation of finger Cubitus valgus Elevated alkaline phosphatase Pterygium Poor suck Arnold-Chiari malformation Azoospermia Plagiocephaly Lymphedema Amblyopia Primary amenorrhea Low posterior hairline Abnormal bleeding Abnormal pulmonary valve morphology Abdominal distention Bruising susceptibility Hypotrichosis Leukemia Broad forehead Sparse hair Kyphoscoliosis Rod-cone dystrophy Thrombocytopenia Headache Vomiting Numerous nevi Hypoplasia of the ovary Thin vermilion border Wide nose Optic disc pallor Ankylosis Visual impairment Muscle weakness Benign neoplasm of the central nervous system Abnormality of connective tissue Abnormal sacrum morphology Fibroma Gingival fibromatosis Bone cyst Chondrocalcinosis Neoplasm of the pancreas Abnormality of the skull Neoplasm of the lung Tracheoesophageal fistula Gait disturbance Intestinal obstruction Hypercalcemia Hemiplegia Sarcoma Neoplasm of the skin Osteolysis Skin ulcer Abnormality of the hair Gingival overgrowth Abnormality of the metaphysis Limitation of joint mobility Two carpal ossification centers present at birth Optic atrophy Frontal bossing Submucous cleft lip Small for gestational age Abnormal blistering of the skin Epileptic encephalopathy Hip dysplasia Delayed myelination Brain atrophy Polymicrogyria Oral cleft Poor speech Synophrys Hypermetropia Abnormality of the cerebral white matter Dilated cardiomyopathy Coloboma Dysphagia Abnormality of the liver Joint stiffness Feeding difficulties in infancy Aggressive behavior Conductive hearing impairment Deeply set eye EEG abnormality Autism Cerebral cortical atrophy Pes cavus Absent speech Kyphosis Myopathy Cyst of the ductus choledochus Six lumbar vertebrae Retinal detachment Multicystic kidney dysplasia Vertebral fusion Vertebral segmentation defect Prolonged QT interval Supernumerary nipple Bilateral talipes equinovarus Large for gestational age Preauricular pit Cupped ear Nephroblastoma Abnormality of the hand Relative macrocephaly Accelerated skeletal maturation Congenital hip dislocation Broad palm Cardiac arrest Hoarse voice Short toe Preauricular skin tag Cerebral visual impairment Tall stature Broad thumb Omphalocele Cerebellar vermis hypoplasia Congenital diaphragmatic hernia Overgrowth Broad nasal tip Abnormality of digit Transposition of the great arteries Duplication of renal pelvis Cervical ribs Penoscrotal transposition Birth length greater than 97th percentile Nephroblastomatosis Broad secondary alveolar ridge Narrow sacroiliac notch 2-3 finger syndactyly Posterior helix pit Short sacroiliac notch Short 2nd finger Penoscrotal hypospadias Broad toe Meckel diverticulum Pancreatic islet-cell hyperplasia Enlarged kidney Chordee Increased IgE level Ankyloglossia Ureteral duplication Flared iliac wings Abnormality of the helix Furrowed tongue Renal neoplasm Duodenal atresia Diastasis recti Polysplenia Low hanging columella Broad foot Wide distal femoral metaphysis



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Arthrogryposis multiplex congenita, related diseases and genetic alterations Autoimmunity and Congenital diaphragmatic hernia, related diseases and genetic alterations

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