Muscular hypotonia, and Neuroblastoma

Diseases related with Muscular hypotonia and Neuroblastoma

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

Top matches:

Medium match HADDAD SYNDROME

Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease (see these terms).

HADDAD SYNDROME Is also known as congenital central alveolar hypoventilation-hirschsprung disease syndrome|ondine-hirschsprung syndrome|ondine-hirschsprung disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Failure to thrive
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HADDAD SYNDROME

Low match ONDINE SYNDROME

Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients.

ONDINE SYNDROME Is also known as congenital central alveolar hypoventilation syndrome|autonomic control, congenital failure of|central congenital hypoventilation syndrome|ondine curse, congenital|cchs|ondine curse

Related symptoms:

  • Seizures
  • Strabismus
  • Muscular hypotonia
  • Pain
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about ONDINE SYNDROME

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Other less relevant matches:

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

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

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

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

SOTOS SYNDROME 1; SOTOS1 Is also known as chromosome 5q35 deletion syndrome|sotos syndrome|cerebral gigantism

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SOTOS SYNDROME 1; SOTOS1

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

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Neuroblastoma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Neoplasm Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Global developmental delay Scoliosis Hypertelorism Depressed nasal bridge Macrocephaly Low-set ears Overgrowth Coarse facial features Apnea Abnormal heart morphology Vesicoureteral reflux Umbilical hernia Sleep apnea Hypoglycemia Attention deficit hyperactivity disorder Nevus Midface retrusion Abnormality of the kidney Mandibular prognathia Hypothyroidism Conductive hearing impairment Low-set, posteriorly rotated ears High palate Ganglioneuroma Polyhydramnios Abnormal facial shape Cleft palate Posteriorly rotated ears Pain Delayed speech and language development Nephroblastoma Short stature Accelerated skeletal maturation Strabismus Carcinoma Obesity Intellectual disability, mild Abnormality of cardiovascular system morphology

Rare Symptoms - Less than 30% cases

Joint hypermobility Growth delay Leiomyosarcoma Hamartoma Cutis laxa Intrauterine growth retardation Hypospadias Hypoplasia of dental enamel Abnormality of the face Dandy-Walker malformation Motor delay Wide nasal bridge Short neck Atrial septal defect Brachycephaly Inguinal hernia Edema Pectus excavatum Leukemia Tibial bowing Enlarged kidney Tall stature Hypercalciuria Redundant skin Large for gestational age Prominent occiput Posterior helix pit Prominent metopic ridge Neonatal hypoglycemia Large fontanelles Nevus flammeus Diastasis recti Hemihypertrophy Gonadoblastoma Visceromegaly Adrenocortical carcinoma Rhabdomyosarcoma Nephrolithiasis Omphalocele Neonatal hypotonia Ventriculomegaly Hypertrophic cardiomyopathy Joint hyperflexibility Recurrent urinary tract infections Melanocytic nevus Abnormality of the ear Otitis media Neurological speech impairment Hepatomegaly Cardiomegaly Frontal bossing Hyperactivity Proptosis Hyperreflexia Wide mouth Hypertension Macroglossia Adrenocortical cytomegaly Large hands Hernia Hepatoblastoma Polycythemia Depressivity Teratoma Constipation Anxiety Respiratory tract infection Behavioral abnormality Postural instability Flexion contracture Abnormal lung morphology Paraparesis Weight loss Obstructive sleep apnea Microcephaly Apraxia Hypoxemia Upslanted palpebral fissure Long philtrum Hydrocephalus Hypoplasia of the corpus callosum Ganglioneuroblastoma Short nose Clumsiness Gastroesophageal reflux Cognitive impairment Sensorineural hearing impairment Abnormal autonomic nervous system physiology Central hypoventilation Central sleep apnea Aganglionic megacolon Feeding difficulties Downslanted palpebral fissures Respiratory insufficiency Pancreatoblastoma Abnormality of the metaphysis Abnormal form of the vertebral bodies Protuberant abdomen Recurrent otitis media Osteoarthritis Tetraparesis Epidermal acanthosis Foot polydactyly Rhizomelia Lumbar hyperlordosis Bowel incontinence Ketosis Nonimmune hydrops fetalis Lymphoma Sleep disturbance Aniridia Short toe Facial hemangioma Abnormality of pelvic girdle bone morphology Flared metaphysis Spondyloepiphyseal dysplasia Chronic otitis media Urogenital fistula Epiphyseal dysplasia Back pain Genu varum Tinnitus Elevated alpha-fetoprotein Short femoral neck Disproportionate short-limb short stature Short long bone Oral cleft Infantile muscular hypotonia Acanthosis nigricans Clonus Large placenta Hypoplasia of the thymus Confusion Subchorionic septal cyst Embryonal neoplasm Brachydactyly Renal cortical cysts Prune belly Flank pain Vitreomacular adhesion Anemia Opsoclonus Abdominal wall defect Branchial cyst Large intestinal polyposis Abnormality of the shape of the midface Abdominal mass Nephroblastomatosis Abnormality of pancreas morphology Thymus hyperplasia Infra-orbital crease Overgrowth of external genitalia Micromelia Arthralgia Scarring Hyperlordosis Congenital megaureter Cleft lip Abnormality of the nervous system Pancreatic cysts Rigidity Skeletal dysplasia Diaphragmatic eventration Severe short stature Malar flattening Abnormality of the tongue Fibrous hamartoma Abnormality of the skeletal system Pancreatic hyperplasia Unilateral cryptorchidism Congenital hypothyroidism Abnormal glucose tolerance Broad palm Aggressive behavior Hypodontia High, narrow palate Genu valgum Hypermetropia Dolichocephaly Joint laxity Hyperplasia of the maxilla Expressive language delay Sacrococcygeal teratoma Gray matter heterotopias Sloping forehead Small cell lung carcinoma Abnormality of the cerebral ventricles Respiratory distress Jaundice Cardiomyopathy Myoclonus Polydactyly Pes planus Macrotia Respiratory failure Renal agenesis Small nail Hydronephrosis Prolonged neonatal jaundice Periventricular leukomalacia Oxycephaly Cavum septum pellucidum Advanced eruption of teeth Long foot Enlarged cisterna magna High anterior hairline Poor coordination Acute lymphoblastic leukemia Partial agenesis of the corpus callosum Heterotopia Agenesis of permanent teeth Hamartomatous polyposis Precocious puberty Reduced number of teeth Abnormal dermatoglyphics Narrow palate Pointed chin Narrow face Abnormal vertebral morphology Lymphedema Anterior creases of earlobe Intellectual disability, moderate Prominent supraorbital ridges Generalized joint laxity Recurrent ear infections Myelopathy Multiple epiphyseal dysplasia Cor pulmonale Abnormality of femur morphology Central apnea Dysuria Upper airway obstruction Communicating hydrocephalus Osteopetrosis Chronic myelogenous leukemia Megalencephaly Spinal cord compression Abnormality of the elbow Spinal canal stenosis Hip contracture Growth abnormality Overbite Myeloid leukemia Polycystic kidney dysplasia Limited elbow extension Thoracolumbar kyphosis Neonatal short-limb short stature Pulmonary hypoplasia Trident hand Prominent forehead Patent ductus arteriosus Postaxial polydactyly Renal cyst Ventricular septal defect Optic atrophy Nystagmus Lumbar kyphosis in infancy Myelitis Spinal stenosis with reduced interpedicular distance Limited hip extension Cervical myelopathy Abdominal distention Brain stem compression Childhood onset short-limb short stature Small foramen magnum Nephrocalcinosis Iritis Cervical cord compression Abnormality of the outer ear Hypopnea Obstructive lung disease Disproportionate short stature Abnormal mitral valve morphology Choroideremia Increased intracranial pressure Pituitary adenoma Neoplasm of the pancreas Hepatocellular carcinoma Ovarian neoplasm Colon cancer Visual field defect Basal cell carcinoma Hemiplegia/hemiparesis Breast carcinoma Hallucinations Prostate cancer Memory impairment Gastrointestinal hemorrhage Migraine Dyskinesia Paresthesia Nausea and vomiting Malabsorption Abnormal pyramidal sign Irritability Intestinal polyposis Dysgraphia Abdominal pain Epicanthus Microtia Retinopathy Blepharophimosis Abnormality of the pinna Telecanthus High forehead Narrow mouth Microphthalmia Congestive heart failure Micrognathia Amaurosis fugax Urinary tract neoplasm Cardiac diverticulum Neoplasm of the rectum Abnormality of creatine metabolism Neoplasm of the skeletal system Benign neoplasm of the central nervous system Neoplasm of the thyroid gland Agnosia Glioblastoma multiforme Pancreatic adenocarcinoma Developmental regression Hypertonia Flat face Polyphagia Neoplasm of the central nervous system Abnormal pupil morphology Chronic lung disease Abnormality of the endocrine system Chronic constipation Hypothermia Cardiorespiratory arrest Abnormality of the mouth Hypoventilation Increased body weight Triangular mouth Abnormality of the cardiovascular system Cyanosis Hyperhidrosis Diarrhea Fever Breathing dysregulation Decreased fetal movement Oligohydramnios Small for gestational age Failure to thrive Abnormality of temperature regulation Snoring Fatigue Postnatal microcephaly Gait disturbance Dysarthria Visual impairment Pontocerebellar atrophy Inverted nipples Impulsivity Laryngomalacia Hyperbilirubinemia Bradycardia Open mouth Abnormality of the autonomic nervous system Delayed myelination Inability to walk Generalized tonic-clonic seizures Protruding ear Thin upper lip vermilion Absent speech Anteverted nares Spasticity Ataxia Hypercapnia Severe global developmental delay Microcornea Asymmetric growth Sprengel anomaly Abnormality of the pulmonary artery Abnormal localization of kidney Abnormal aortic valve morphology Shield chest Aplasia/Hypoplasia of the abdominal wall musculature Redundant neck skin Wolff-Parkinson-White syndrome Right ventricular hypertrophy Premature skin wrinkling Severe sensorineural hearing impairment Multiple lentigines Curly hair Multiple cafe-au-lait spots Freckling Atrioventricular canal defect Decreased fertility External genital hypoplasia Bundle branch block Bilateral cryptorchidism Abnormality of the voice Excessive wrinkled skin Abnormal endocardium morphology Hyperextensible skin Wide anterior fontanel Abnormality of earlobe Pseudohypoparathyroidism Otosclerosis Ureteral duplication Multiple renal cysts Exocrine pancreatic insufficiency Neurodevelopmental delay Relative macrocephaly Arnold-Chiari malformation Congenital diaphragmatic hernia Abnormal pulmonary valve morphology Prominent nose Premature birth Nephropathy Long face Poor speech Feeding difficulties in infancy Autism Splenomegaly Numerous nevi Hypoplasia of the ovary Myelodysplasia Melanoma Full cheeks Overlapping toe Broad eyebrow Periorbital fullness Lower limb asymmetry External ear malformation Irregular hyperpigmentation Hypoplastic nipples Cerebellar vermis atrophy Abnormality of the musculature Long fingers Tricuspid regurgitation Upper limb asymmetry Overfolded helix Optic nerve hypoplasia Scrotal hypoplasia Generalized hirsutism Thickened skin Hypertrichosis Short palpebral fissure Febrile seizures Wide intermamillary distance Abnormality of the skin Median cleft palate Abnormality of the scrotum Spina bifida occulta Webbed neck Scapular winging Cafe-au-lait spot Left ventricular hypertrophy Subcutaneous nodule Abnormality of the genital system Myocardial infarction Mitral valve prolapse Tetralogy of Fallot Specific learning disability Triangular face Increased number of skin folds Thick vermilion border Delayed puberty Pulmonic stenosis Pectus carinatum Hyperkeratosis Delayed skeletal maturation Arrhythmia Dilatation Ptosis Localized neuroblastoma Congenital mesoblastic nephroma


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