Edema, and Neuroblastoma

Diseases related with Edema and Neuroblastoma

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

Top matches:

Low match EWING SARCOMA

Ewing's sarcoma is a malignant small round cell bone tumor with strong metastatic potential.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Weight loss


SOURCES: OMIM ORPHANET MENDELIAN

More info about EWING SARCOMA

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

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

Other less relevant matches:

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

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

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

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

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

Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Top 5 symptoms//phenotypes associated to Edema and Neuroblastoma

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Neoplasm Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Congestive heart failure Pain Intellectual disability, mild Cryptorchidism Hypertelorism Abnormal heart morphology Hypoplasia of dental enamel Depressed nasal bridge Motor delay High palate Nevus Respiratory insufficiency Cardiomyopathy Respiratory failure Hernia Arrhythmia Atrial septal defect Hamartoma Strabismus Macrocephaly Renal cyst Behavioral abnormality Carcinoma Joint hypermobility Ventricular septal defect Overgrowth High, narrow palate Downslanted palpebral fissures Coarse facial features Nystagmus Abnormality of the kidney Cutis laxa Cafe-au-lait spot Hypertrophic cardiomyopathy Heterotopia Hypoglycemia Headache Vomiting Feeding difficulties Cognitive impairment Rhabdomyosarcoma Cardiomegaly Attention deficit hyperactivity disorder Intellectual disability, moderate Polyhydramnios Lymphedema Hypothyroidism Renal insufficiency Pneumothorax Proptosis Respiratory distress Hepatomegaly Dilatation Nephroblastoma Precocious puberty Hypertension Polycystic kidney dysplasia Low-set ears Low-set, posteriorly rotated ears Delayed speech and language development Epicanthus Micrognathia Scoliosis Short neck Hearing impairment Short stature Leukemia Abnormality of cardiovascular system morphology Pectus excavatum Fever Posteriorly rotated ears

Rare Symptoms - Less than 30% cases

Chordoma Schwannoma Loose anagen hair Pulmonary hypoplasia Postural instability Abdominal distention Macroglossia Autism Abnormality of the liver Large for gestational age Postnatal growth retardation Prominent occiput Specific learning disability Chylothorax Cerebral calcification Generalized-onset seizure Subcutaneous nodule Arnold-Chiari type I malformation Wide mouth Sparse hair Neonatal hypoglycemia Dysarthria Myopathy Hydrocephalus Dysphagia Shagreen patch Webbed neck Adenoma sebaceum Cleft palate Pulmonic stenosis Angiofibromas Optic nerve glioma Microcephaly Short nose Muscular hypotonia Failure to thrive Hyperactivity Renal angiomyolipoma Nevus flammeus Ketosis Cortical tubers Dental enamel pits Pulmonary lymphangiomyomatosis Left ventricular hypertrophy Growth delay Ungual fibroma Cataract Ptosis Leukocytosis Myopia Subungual fibromas Pleural effusion Hypomelanotic macule Astrocytoma Gingival fibromatosis Cardiac rhabdomyoma Hypogonadism Subependymal nodules Achromatic retinal patches Rhabdomyoma Kyphoscoliosis Gastroesophageal reflux Nonimmune hydrops fetalis Infantile spasms Acute lymphoblastic leukemia Gliosis Renal cell carcinoma Weight loss Failure to thrive in infancy Renal cortical cysts Wolff-Parkinson-White syndrome Flank pain Abnormality of the cerebral white matter Poor suck Arnold-Chiari malformation Skin tags Dyspnea Abnormality of the respiratory system Vitreomacular adhesion Teratoma Nausea Ependymoma Tetraplegia Wide anterior fontanel Irritability Aortic aneurysm Conductive hearing impairment Clumsiness Tricuspid regurgitation Apraxia Joint laxity Narrow palate Respiratory tract infection Joint hyperflexibility Telecanthus Hypermetropia High forehead Sleep disturbance Vesicoureteral reflux Umbilical hernia Pointed chin Optic atrophy Accelerated skeletal maturation Dandy-Walker malformation Rhabdomyolysis Patent ductus arteriosus Full cheeks Inguinal hernia Abnormality of the skin Wide intermamillary distance Abnormal dermatoglyphics Ventriculomegaly Jaundice Frontal bossing Abnormality of the pinna Large hands Redundant skin Long philtrum Multiple renal cysts Fasting hypoglycemia Neoplasm of the pancreas Gingivitis Hypoplasia of teeth Multiple cafe-au-lait spots Concave nail Broad philtrum Abnormal mitral valve morphology Abnormality of the pancreas Asymmetric septal hypertrophy Woolly hair Soft skin Obstructive sleep apnea Severe postnatal growth retardation Microscopic hematuria Thickened nuchal skin fold Fragile nails Abnormality of the pleura Megalencephaly Barrel-shaped chest Progeroid facial appearance Large earlobe Electron transfer flavoprotein-ubiquinone oxidoreductase defect Thick upper lip vermilion Achilles tendon contracture Large forehead Verrucae Broad femoral neck Central apnea Lack of skin elasticity Abnormality of the testis Redundant neck skin Labial hypoplasia Deep palmar crease Hyperextensibility of the finger joints Hypopnea Macule Neonatal sepsis Myofiber disarray Enlarged cerebellum Macrocephaly at birth Cardiomyocyte hypertrophy Triangular mouth Bladder carcinoma Capillary malformation Bladder neoplasm Abnormal pulmonary valve morphology Duodenal ulcer Choroid plexus papilloma Multifocal atrial tachycardia Hematemesis Ulnar deviation of the wrist Body odor Postprandial hyperglycemia Embryonal rhabdomyosarcoma Hepatic periportal necrosis Deep-set nails Vestibular Schwannoma Shyness Frontal hirsutism Ganglioneuroblastoma Transitional cell carcinoma of the bladder Melena Tendon rupture Cortical dysplasia Iris coloboma Emphysema Abnormality of neuronal migration Atrioventricular block Abnormality of earlobe Increased intracranial pressure Limited elbow movement Fetal distress Concentric hypertrophic cardiomyopathy Aplasia/Hypoplasia of the corpus callosum Bradycardia Bronchomalacia Papilloma Alveolar rhabdomyosarcoma Papule Large face Anxiety EEG abnormality Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Thin nail Deep plantar creases Hypopigmented skin patches Hypoglycemic coma Third degree atrioventricular block Scapular winging Hemiplegia Back pain Slurred speech Easy fatigability Narcolepsy Poor head control Mutism Ragged-red muscle fibers Gastrointestinal inflammation Hyperammonemia Spastic tetraparesis Pancreatitis Arthralgia of the hip Exercise intolerance Cataplexy Type I diabetes mellitus Glutaric acidemia Cardiac arrest Clonus Leukodystrophy Decreased liver function Anorexia Renal dysplasia Pachygyria Abnormality of the genital system Tetraparesis Waddling gait Aciduria Increased serum lactate Stridor Limb tremor Muscle cramps Exercise-induced myalgia Progressive spastic quadriplegia Glutaric aciduria Oliguria Nonketotic hypoglycemia Generalized aminoaciduria Respiratory arrest Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Hypoketotic hypoglycemia Impaired mastication Organic aciduria Chronic fatigue Excessive daytime somnolence Ketonuria Cardiorespiratory arrest Progressive proximal muscle weakness Myoglobinuria Drowsiness Fatigable weakness Acute kidney injury Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Generalized muscle weakness Coma Macrodactyly Chest pain Projection of scalp hair onto lateral cheek Connective tissue nevi Premature chromatid separation Fibroma Brain neoplasm White hair Renal neoplasm Generalized hypopigmentation Hyperventilation CNS hypomyelination Tachypnea Focal-onset seizure Brain atrophy Hypopigmentation of the skin Muscle weakness Retinal detachment Personality disorder Cough Stroke Skin rash Autistic behavior Glaucoma Subependymal giant-cell astrocytoma Confetti-like hypopigmented macules Fatigable weakness of distal limb muscles Fatigable weakness of neck muscles Abnormality of branched chain family amino acid metabolism Retinal hamartoma Defective dehydrogenation of isovaleryl CoA and butyryl CoA Ataxia Spasticity Metabolic acidosis Difficulty walking Hepatic steatosis Lactic acidosis Limb muscle weakness Nausea and vomiting Congenital cataract Lethargy Dilated cardiomyopathy Hyperlordosis Myalgia Proximal muscle weakness Elevated hepatic transaminase Increased muscle lipid content Ketotic hypoglycemia Elevated plasma acylcarnitine levels Reduced protein C activity Tremor Reye syndrome-like episodes Arthralgia Ethylmalonic aciduria Hypersarcosinemia Acidosis Gait ataxia Elevated serum creatine phosphokinase Areflexia Encephalopathy Depressivity Diarrhea Central hypotonia Fatigue Gait disturbance Syringomyelia Preductal coarctation of the aorta Tracheomalacia Hamartomatous polyposis Omphalocele Postaxial polydactyly Hydronephrosis Polydactyly Myoclonus Midface retrusion Intrauterine growth retardation Abnormality of the cerebral ventricles Small cell lung carcinoma Gray matter heterotopias Sacrococcygeal teratoma Expressive language delay Hyperplasia of the maxilla Overbite Large fontanelles Abnormal glucose tolerance Periventricular leukomalacia Oxycephaly Cavum septum pellucidum Advanced eruption of teeth Long foot Enlarged cisterna magna High anterior hairline Poor coordination Prolonged neonatal jaundice Partial agenesis of the corpus callosum Agenesis of permanent teeth Reduced number of teeth Narrow face Recurrent urinary tract infections Nephrolithiasis Tall stature Gonadoblastoma Posterior helix pit Ganglioneuroma Adrenocortical carcinoma Prune belly Embryonal neoplasm Hepatoblastoma Abdominal wall defect Diaphragmatic eventration Unilateral cryptorchidism Abnormality of the tongue Pancreatic cysts Visceromegaly Hypoplasia of the thymus Hemihypertrophy Nephrocalcinosis Diastasis recti Enlarged kidney Foot polydactyly Protuberant abdomen Aniridia Prominent metopic ridge Congenital hypothyroidism Broad palm Tibial bowing Abnormality of the ear Hypercalciuria Prominent supraorbital ridges Growth abnormality Abnormality of the outer ear Abnormal vertebral morphology Small nail Abdominal mass Microphthalmia Hypertrichosis Short palpebral fissure Febrile seizures Microcornea Flat face Severe global developmental delay Microtia Retinopathy Blepharophimosis Narrow mouth Brachycephaly Upslanted palpebral fissure Hypospadias Hypoplasia of the corpus callosum Thickened skin Wide nasal bridge Neoplasm of the peripheral nervous system Peripheral neuroepithelioma Ewing sarcoma Primitive neuroectodermal tumor Burkitt lymphoma Chronic myelogenous leukemia Meningioma Myeloid leukemia Sarcoma Lymphoma Paraplegia Paralysis Anemia Abnormality of the face Generalized hirsutism Sloping forehead Increased number of skin folds Renal agenesis Otitis media Hypodontia Genu valgum Dolichocephaly Aggressive behavior Neonatal hypotonia Pes planus Macrotia Mandibular prognathia Prominent forehead Hyperreflexia Localized neuroblastoma Abnormality of the scrotum Scrotal hypoplasia Upper limb asymmetry Median cleft palate 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 Overfolded helix Optic nerve hypoplasia Opsoclonus Thymus hyperplasia Generalized hyperpigmentation Abnormality of the nervous system Premature birth Sepsis Ascites Hematuria Thick vermilion border Wide nose Tachycardia Astigmatism Delayed puberty Arthrogryposis multiplex congenita Pectus carinatum Feeding difficulties in infancy Apnea Osteopenia Hip dysplasia Hyperkeratosis Cerebral cortical atrophy Hyperhidrosis Osteoporosis Severe short stature Pes cavus Delayed skeletal maturation Absent speech Cerebral atrophy Abnormality of the dentition Anteverted nares Talipes equinovarus Abnormality of the skeletal system Postductal coarctation of the aorta Growth hormone deficiency Eczema Reduced factor XIII activity Relative macrocephaly Ulnar deviation of finger Curly hair Keratoconus Reduced subcutaneous adipose tissue Neurodevelopmental delay Rocker bottom foot Hypoplastic toenails Bilateral cryptorchidism Hyperglycemia Heart murmur Pyloric stenosis Hyperextensible skin Laryngomalacia Hemangioma Mitral valve prolapse Infantile muscular hypotonia Acanthosis nigricans Abnormality of the fingernails Short chin Abnormality of dental enamel Hoarse voice Abnormality of the hair Hydrops fetalis Hyperpigmentation of the skin Long eyelashes Decreased body weight Atrial fibrillation Thick lower lip vermilion Epidermal acanthosis Nasogastric tube feeding Gonadal neoplasm Nephroblastomatosis Broad forehead Plagiocephaly Amblyopia Primary amenorrhea Low posterior hairline Ventricular hypertrophy Coarctation of aorta Amenorrhea Dental malocclusion Abnormal bleeding Triangular face Bruising susceptibility Facial asymmetry Hypotrichosis Abnormal cardiac septum morphology Bicuspid aortic valve Abdominal pain Rod-cone dystrophy Constipation Clinodactyly Thrombocytopenia Splenomegaly Brachydactyly Sensorineural hearing impairment Congenital mesoblastic nephroma Pancreatoblastoma Fibrous hamartoma Pancreatic hyperplasia Overgrowth of external genitalia Adrenocortical cytomegaly Azoospermia Pterygium Pectus excavatum of inferior sternum Restrictive cardiomyopathy Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Multiple lentigines Synovitis Shield chest Atrial flutter Elevated alkaline phosphatase Drusen Malignant hyperthermia Gonadal dysgenesis Abnormality of blood and blood-forming tissues Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Myelodysplasia Patent foramen ovale Abnormality of blood glucose concentration


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