Fever, and Umbilical hernia

Diseases related with Fever and Umbilical hernia

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

Top matches:

Related symptoms:

  • Scoliosis
  • Neoplasm
  • Fever
  • Inguinal hernia
  • Arthralgia


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PERIODONTAL TYPE, 2; EDSPD2

Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Deficiency of lysosomal acid lipase causes 2 distinct phenotypes in humans: Wolman disease and cholesteryl ester storage disease (CESD). Wolman disease is an early-onset fulminant disorder of infancy with massive infiltration of the liver, spleen, and other organs by macrophages filled with cholesteryl esters and triglycerides. Death occurs early in life. Wolman disease is very rare, with an incidence of less than one in 100,000 live births. CESD is a milder, later-onset disorder with primary hepatic involvement by macrophages engorged with cholesteryl esters. This slowly progressive visceral disease has a very wide spectrum of involvement ranging from early onset with severe cirrhosis to later onset of more slowly progressive hepatic disease with survival into adulthood (summary by Du et al., 2001).

LYSOSOMAL ACID LIPASE DEFICIENCY Is also known as lal deficiency|cholesterol ester hydrolase deficiency|cholesteryl ester storage disease|lipa deficiency|cesd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Anemia
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYSOSOMAL ACID LIPASE DEFICIENCY

Other less relevant matches:

Familial visceral myopathy is a rare inherited form of myopathic pseudoobstruction, characterized by impaired function of enteric smooth muscle cells resulting in abnormal intestinal mobility, severe abdominal pain, malnutrition, and even death (Lehtonen et al., 2012). Visceral myopathy represents a phenotypic spectrum of disease characterized by inter- and intrafamilial variability, in which the most severely affected patients exhibit prenatal bladder enlargement, intestinal malrotation, neonatal functional gastrointestinal obstruction, and chronic dependence on total parenteral nutrition (TPN) and urinary catheterization (summary by Wangler et al., 2014).Another form of visceral myopathy with functional gastrointestinal obstruction is associated with external ophthalmoplegia (OMIM ).Functional gastrointestinal obstruction also occurs in association with other abnormalities, such as 'prune belly' syndrome (OMIM ) and Barrett esophagus (Mungan syndrome; {611376}). Chronic intestinal pseudoobstruction can also be neuropathic in origin (see {609629}).

VISCERAL MYOPATHY; VSCM Is also known as megacystis-microcolon-intestinal hypoperistalsis syndrome|infantile visceral myopathy|mmih|megaduodenum and/or megacystis|pseudoobstruction, idiopathic intestinal|berdon syndrome

Related symptoms:

  • Microcephaly
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Pain


SOURCES: OMIM MENDELIAN

More info about VISCERAL MYOPATHY; VSCM

SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1 Is also known as sja syndrome|schwartz-jampel-aberfeld syndrome|sjs|myotonic myopathy, dwarfism, chondrodystrophy, and ocular and facial abnormalities|schwartz-jampel syndrome|chondrodystrophic myotonia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME, TYPE 1; SJS1

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

High match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

In 80 to 85% of cases, congenital hypothyroidism is associated with, and presumably is a consequence of, thyroid dysgenesis (Macchia et al., 1998). In these cases, the thyroid gland can be absent (agenesis), ectopically located, and/or severely reduced in size (hypoplasia). When thyroid hormone therapy is not initiated within the first 2 months of life, congenital hypothyroidism can cause severe neurologic, mental, and motor damage (cretinism).

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2 Is also known as rtsh|thyroid agenesis|thyrotropin resistance|resistance to thyrotropin|thyroid, ectopic|hypothyroidism, athyreotic|athyreotic hypothyroidism|hypothyroidism, congenital, due to thyroid dysgenesis|thyroid hypoplasia|thyroid dysgenesis

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2

Top 5 symptoms//phenotypes associated to Fever and Umbilical hernia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Anemia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Umbilical hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Inguinal hernia Abnormal facial shape Thrombocytopenia Failure to thrive Global developmental delay Hypothyroidism Micrognathia Abnormality of cardiovascular system morphology Cleft palate Seizures Flexion contracture Hypocalcemia Abdominal distention Purpura Weight loss Cholelithiasis Tetralogy of Fallot Diarrhea Vomiting Hepatomegaly Hypertension Spina bifida Abnormal heart morphology Renal agenesis Portal hypertension Short neck Cataract Neoplasm Dysphagia Ptosis Atrial septal defect Hydrocephalus High palate Hearing impairment Blepharophimosis Delayed skeletal maturation Respiratory distress Patent ductus arteriosus Growth delay Ataxia Hernia Irritability Hypertonia Myotonia Fatigue Apnea Duodenal stenosis Strabismus Rigidity

Rare Symptoms - Less than 30% cases

Behavioral abnormality Hypoplasia of the corpus callosum Hypertelorism Leukopenia Hypoparathyroidism Immunodeficiency Recurrent infections Delayed speech and language development Sacral meningocele Obesity Hypospadias Right aortic arch with mirror image branching Arteria lusoria Ventricular septal defect Cognitive impairment Microphthalmia Severe short stature Congestive heart failure Intrauterine growth retardation Low-set ears Feeding difficulties in infancy Abnormality of the skeletal system Lethargy Pancytopenia Short palpebral fissure Narrow mouth Posteriorly rotated ears Proptosis Osteopenia Pes planus Astigmatism Carcinoma Narrow palpebral fissure Hyperbilirubinemia Abnormality of the kidney Muscular hypotonia Dementia Arthritis Aplasia of the thymus Juvenile rheumatoid arthritis Rheumatoid arthritis Psoriasiform dermatitis Unilateral renal agenesis Interrupted aortic arch Acne Graves disease Aplasia of the uterus Seborrheic dermatitis Myelomeningocele Abnormal vertebral morphology Truncus arteriosus Meningocele Hearing abnormality Inflammation of the large intestine Autoimmune hemolytic anemia Autoimmune thrombocytopenia Posterior embryotoxon Bipolar affective disorder Perimembranous ventricular septal defect Schizophrenia Retrognathia Conotruncal defect Vitiligo Abnormality of the pinna Autoimmunity Anal atresia Bulbous nose Hemolytic anemia Bifid uvula Chorea Retinal vascular tortuosity Arnold-Chiari malformation Specific learning disability Amenorrhea Low posterior hairline Primary amenorrhea Renal dysplasia Impaired T cell function Right aortic arch Bicuspid aortic valve Nasal speech Elbow flexion contracture Spasticity Skeletal muscle atrophy Hypokinesia Myoclonus Jaundice Horseshoe kidney Pain Splenomegaly Cryptorchidism Recurrent urinary tract infections Aganglionic megacolon Aspiration Low-grade fever Encephalopathy Myopathy Ophthalmoplegia Constipation Vesicoureteral reflux Abdominal pain Polyhydramnios Hydronephrosis Abnormality of the liver Hyperreflexia Hepatosplenomegaly Developmental regression Hip dislocation Bruising susceptibility Malnutrition Protuberant abdomen Lymphoma Congenital hip dislocation Ascites Pulmonary arterial hypertension Joint stiffness Hydroureter Cirrhosis Anxiety Hepatic failure Gastroesophageal reflux Abnormality of coagulation Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Petechiae Prolonged G2 phase of cell cycle Exertional dyspnea Interstitial pulmonary abnormality Anemic pallor Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Squamous cell carcinoma Compensated hypothyroidism Abnormal carotid artery morphology Aspiration pneumonia Partial duplication of thumb phalanx Trismus Clubbing of toes Bulbar signs Decreased fertility in males Hypomagnesemia Fetal akinesia sequence Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Bulbar palsy Absent testis Increased serum ferritin Hepatocellular carcinoma Epileptic spasms Limb hypertonia Atrophy/Degeneration affecting the brainstem Poor eye contact Congenital ichthyosiform erythroderma Almond-shaped palpebral fissure Opisthotonus Heart murmur Menorrhagia Syncope Anorexia Thickened skin Decreased body weight Ectopic thyroid Cholestasis Progressive neurologic deterioration Epistaxis Thyroid agenesis Decreased fetal movement Cyanosis Abnormality of the skin Brain atrophy Abnormal bleeding Hoarse cry Generalized myoclonic seizures Pulmonary hypoplasia Nausea Lymphadenopathy Abnormality of eye movement Corneal opacity Cough Pallor Large posterior fontanelle Elevated hepatic transaminase Thyroid dysgenesis Hypoglycemia Hydrops fetalis Progressive microcephaly Abnormality of the preputium Bilateral ptosis Dry skin Macroglossia Growth hormone deficiency Bradycardia Athetosis Slow saccadic eye movements Akinesia Clubbing Hyponatremia Ectropion Goiter Abnormality of the thorax Intracranial hemorrhage Bone pain Poor suck Hyperammonemia Stridor Spondyloepiphyseal dysplasia Congenital hypothyroidism Hypothermia Oculomotor apraxia Osteolysis Thyroid hypoplasia Increased thyroid-stimulating hormone level Knee flexion contracture Cardiac arrest Complete duplication of thumb phalanx Abnormal aortic morphology Aplasia/Hypoplasia of the iris Abnormality of the foot Oligohydramnios Sloping forehead Irregular hyperpigmentation External ear malformation Hypopigmentation of the skin Chromosome breakage Neutropenia Abnormal eyelid morphology Abnormality of skin pigmentation Vertigo Facial asymmetry Toe syndactyly Abnormality of the genital system Dolichocephaly Finger syndactyly Small for gestational age Leukemia Abnormal cardiac septum morphology Postnatal growth retardation Abnormality of the eye Recurrent respiratory infections Hypertrophic cardiomyopathy Abnormality of the ulna Diabetes mellitus Upslanted palpebral fissure Choanal atresia Telangiectasia Arteriovenous malformation Azoospermia Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Hypopigmented skin patches Renal hypoplasia/aplasia Cranial nerve paralysis Type I diabetes mellitus Aplasia/Hypoplasia of the radius Bone marrow hypocellularity Hypergonadotropic hypogonadism Ectopic kidney Absent thumb Insulin resistance Myeloid leukemia Multiple cafe-au-lait spots Acute myeloid leukemia Abnormality of blood and blood-forming tissues Short thumb Absent radius Cafe-au-lait spot Hypogonadism Clinodactyly of the 5th finger Nonimmune hydrops fetalis Abnormality of the spleen Abnormality of the thumb Histiocytosis Bicornuate uterus Generalized osteosclerosis Abnormality of femur morphology Acute monocytic leukemia Abnormality of the hypothalamus-pituitary axis Restrictive deficit on pulmonary function testing Abnormal aortic valve morphology Avascular necrosis of the capital femoral epiphysis Abnormal renal morphology Hypoxemia Abnormal pattern of respiration Abnormal localization of kidney Abnormality of chromosome stability Abnormality of the larynx Multiple myeloma Reticulocytopenia Congenital nonbullous ichthyosiform erythroderma Hypoplasia of the ulna Abnormality of nervous system morphology Supranuclear gaze palsy Primary hypothyroidism Duplicated collecting system Meckel diverticulum Abnormality of the testis Eclabion Headache Erlenmeyer flask deformity of the femurs Renal insufficiency Ventriculomegaly Frontal bossing Epicanthus Visual impairment Nystagmus EEG with temporal sharp waves Slowed horizontal saccades Cardiac valve calcification Abnormal platelet aggregation Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity CSF pleocytosis Abnormality of the uterus Orthopnea Laryngeal stridor Giant cell hepatitis Intestinal bleeding Spontaneous hematomas Subcutaneous hemorrhage Abducens palsy Axial dystonia Hemophagocytosis B-cell lymphoma Abnormality of the upper limb Aplastic anemia Dyspnea Submucous cleft hard palate Arrhythmia Hyperparathyroidism Pollakisuria Urinary retention Intestinal pseudo-obstruction Abdominal situs inversus Aplasia/Hypoplasia of the abdominal wall musculature Peritonitis Volvulus Achalasia Chronic constipation Episodic abdominal pain Disproportionate tall stature Prune belly Anonychia Intestinal obstruction Hypoalbuminemia External ophthalmoplegia Pancreatitis Interphalangeal joint contracture of finger Overgrowth Intestinal malrotation Round face Arachnodactyly Narrow chest Microcolon Megacystis Prominent nasal bridge Osteoporosis Decreased testicular size Full cheeks Microcornea Recurrent fractures Flat face Talipes Platyspondyly Pectus carinatum Camptodactyly Skeletal dysplasia Kyphoscoliosis Hyperhidrosis Urethral obstruction Hyporeflexia Midface retrusion Malar flattening Talipes equinovarus Myopia Muscle weakness Megaduodenum Hypoperistalsis Gastrointestinal obstruction Neuroma Barrett esophagus Broad forehead Low-set, posteriorly rotated ears Bowing of the long bones Abnormality of movement Hiatus hernia Atonic seizures Loss of consciousness Joint dislocation Muscle stiffness Fasciculations Frequent falls Epileptic encephalopathy Sleep disturbance Falls Gait disturbance Myokymia Gingival recession Periodontitis Premature loss of teeth Gingival bleeding Fragile skin Atrophic scars Nephroblastoma Hyperextensible skin Osteoarthritis Joint hypermobility Arthralgia Esophagitis Exaggerated startle response Pneumonia Abnormality of lipid metabolism Dilatation Anteverted nares Peripheral neuropathy Adrenal calcification Bone-marrow foam cells Periportal fibrosis Vacuolated lymphocytes Hyperlipoproteinemia Foam cells Esophageal varix Acute hepatic failure Steatorrhea Nocturnal seizures Cachexia Hypercholesterolemia Hyperlipidemia Atherosclerosis Increased body weight Leukodystrophy Hepatic fibrosis Hypertriglyceridemia Hepatic steatosis Malabsorption Scarring Lumbar hyperlordosis Joint contracture of the hand Kyphosis Central nervous system degeneration Short philtrum Attention deficit hyperactivity disorder Craniosynostosis Cleft lip Telecanthus Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Congenital conductive hearing impairment Perineal fistula Vascular ring Psychotic episodes Generalized tonic-clonic seizures Velopharyngeal insufficiency Giant platelets Paranoia Mood swings Platybasia Pulmonary artery atresia Abnormality of the endocrine system Echolalia Pierre-Robin sequence Delusions Anal stenosis Microtia Polymicrogyria Basal ganglia calcification Abnormality of the middle ear Dystonia Edema Motor delay Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Accommodative esotropia Esophoria Vascular tortuosity Abnormality of the thymus Perisylvian polymicrogyria Iris coloboma Alcoholism Femoral hernia Hypoplasia of the thymus Anterior segment developmental abnormality Tetany Sclerocornea Exotropia Amblyopia Broad thumb Coarctation of aorta High, narrow palate Axonal loss Abnormality of the ear Abnormal autonomic nervous system physiology Constrictive median neuropathy Shoulder flexion contracture Pursed lips Percussion myotonia Talipes valgus Temperature instability Flexion contracture of toe Spinal deformities Weak voice Wrist flexion contracture Hypoplasia of the musculature Coronal cleft vertebrae Blepharospasm Smooth tongue Malignant hyperthermia Hip contracture High pitched voice Skeletal muscle hypertrophy Overfolded helix Metaphyseal widening Sleep apnea Coxa vara Coxa valga Generalized hirsutism EMG abnormality Generalized muscle hypertrophy Abnormality of femoral epiphysis Myopathic facies Underdeveloped nasal alae Hypoplasia of the brainstem Obsessive-compulsive behavior Apathy Dysdiadochokinesis Abnormality of the hand Holoprosencephaly Multicystic kidney dysplasia Hallucinations Open mouth Psychosis Peripheral demyelination Dysmetria Long eyelashes in irregular rows Pulmonic stenosis Congenital cataract Mental deterioration Aggressive behavior Conductive hearing impairment Hyperactivity Depressivity Absent speech Cerebellar atrophy Intellectual disability, severe Anterior bowing of long bones Thyroid hemiagenesis


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