Fever, and Hernia

Diseases related with Fever and Hernia

In the following list you will find some of the most common rare diseases related to Fever and 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:

Low match CAFFEY DISEASE

Caffey disease is an osteosclerotic dysplasia characterized by acute inflammation with massive subperiosteal new bone formation usually involving the diaphyses of the long bones, as well as the ribs, mandible, scapulae, and clavicles. The disease is associated with fever, irritability pain and soft tissue swelling, with onset around the age of 2 months and resolving spontaneously by the age of 2 years. However, prenatal disease onset has also been described.

CAFFEY DISEASE Is also known as infantile cortical hyperostosis

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Fever
  • Abnormality of the skeletal system


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CAFFEY DISEASE

DENYS-DRASH SYNDROME; DDS Is also known as nephropathy, wilms tumor, and genital anomalies|drash syndrome|wilms tumor and pseudo- or true hermaphroditism

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about DENYS-DRASH SYNDROME; DDS

Lethal multiple pterygium syndrome (LMPS) is a rare association of anomalies of the skin, muscles and skeleton.

LETHAL MULTIPLE PTERYGIUM SYNDROME Is also known as lmps|pterygium syndrome, multiple, lethal type|autosomal recessive lethal multiple pterygium syndrome

Related symptoms:

  • Microcephaly
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about LETHAL MULTIPLE PTERYGIUM SYNDROME

Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Angelman syndrome is a neurodevelopmental disorder characterized by mental retardation, movement or balance disorder, typical abnormal behaviors, and severe limitations in speech and language. Most cases are caused by absence of a maternal contribution to the imprinted region on chromosome 15q11-q13. Prader-Willi syndrome (PWS ) is a clinically distinct disorder resulting from paternal deletion of the same 15q11-q13 region. In addition, the chromosome 15q11-q13 duplication syndrome (OMIM ) shows overlapping clinical features.Clayton-Smith and Pembrey (1992) provided a review of Angelman syndrome. Cassidy and Schwartz (1998) reviewed the molecular and clinical aspects of both Prader-Willi syndrome and Angelman syndrome. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome region.Van Buggenhout and Fryns (2009) provided a review of Angelman syndrome and discussed genetic counseling of the disorder, which can show a recurrence risk of up to 50%, depending on the underlying genetic mechanism.

ANGELMAN SYNDROME; AS Is also known as happy puppet syndrome, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANGELMAN SYNDROME; AS

Tumor necrosis factor receptor 1 associated periodic syndrome (TRAPS) is a periodic fever syndrome, characterized by recurrent fever, arthralgia, myalgia and tender skin lesions lasting for 1 to 3 weeks, associated with skin, joint, ocular and serosal inflammation and complicated by secondary amyloidosis (see this term).

TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME Is also known as tnf receptor 1-associated periodic syndrome|fpf|traps syndrome|hibernian fever, familial|familial hibernian fever|fhf|tnf receptor-associated periodic syndrome|tumor necrosis factor receptor-associated periodic syndrome|traps

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Fever
  • Edema


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TUMOR NECROSIS FACTOR RECEPTOR 1 ASSOCIATED PERIODIC SYNDROME

Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

Top 5 symptoms//phenotypes associated to Fever and Hernia

Symptoms // Phenotype % cases
Inguinal hernia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Arthritis Behavioral abnormality Vomiting Umbilical hernia Microcephaly Hypertelorism Arthralgia Generalized hypotonia Hearing impairment Splenomegaly Neoplasm Seizures Anemia

Rare Symptoms - Less than 30% cases

Hepatomegaly Hypertension Failure to thrive Low-grade fever Bruising susceptibility Abdominal pain Glaucoma Respiratory insufficiency Atonic seizures Diarrhea Myalgia Weight loss Macrocephaly Cellulitis Micrognathia Hepatic failure Leukocytosis Abdominal distention Malignant hyperthermia Abnormal facial shape Polyhydramnios Flexion contracture Epicanthus Intellectual disability, profound Pterygium Optic atrophy Joint dislocation Skin rash Nystagmus Congenital diaphragmatic hernia Elevated erythrocyte sedimentation rate Hyperreflexia Ataxia Irritability Uveitis Constipation Feeding difficulties in infancy Cleft palate Pain Nephroblastoma Nephropathy Cerebellar atrophy Strabismus Hypertonia Encephalopathy Nephrotic syndrome Sleep disturbance Abnormality of the genital system Muscle stiffness Deeply set eye Aspiration Vasculitis Conjunctivitis Falls Gastroesophageal reflux Abnormality of movement Hip dislocation Cranial nerve paralysis Anxiety Mandibular prognathia Kyphoscoliosis Hyperkinesis Incoordination Limb tremor Self-injurious behavior Flat occiput Albinism Polyphagia Keratoconus Protruding tongue Drowsiness Overweight Epileptic spasms Progressive gait ataxia Blue irides Short attention span Profound global developmental delay Moderate global developmental delay Happy demeanor Fair hair Infertility Drooling Sleep-wake cycle disturbance Intellectual disability, severe Kyphosis Absent speech Obesity Brachycephaly Hyperactivity Cerebral cortical atrophy Gait ataxia Autism EEG abnormality Autistic behavior Wide mouth Neurological speech impairment Hypermetropia Astigmatism Cerebral palsy Broad-based gait Widely spaced teeth Intellectual disability, progressive Exotropia Postnatal microcephaly Abnormality of the face Clumsiness Status epilepticus Hypopigmentation of the skin Generalized-onset seizure Overgrowth Focal-onset seizure Macroglossia Abnormal cerebellum morphology Hypoplasia of the maxilla Inappropriate laughter Pericarditis Large foramen magnum Blepharophimosis Abnormality of the skin Underdeveloped nasal alae Dental malocclusion Flat face Talipes Arthrogryposis multiplex congenita Small for gestational age Postnatal growth retardation Knee flexion contracture Camptodactyly Telecanthus Narrow mouth Prominent forehead Malar flattening Long philtrum Short nose Myopathy Joint contracture of the hand Spina bifida occulta Talipes equinovarus Trismus Whistling appearance Shoulder flexion contracture Ulnar deviation of the hand or of fingers of the hand Abnormal auditory evoked potentials Flexion contracture of toe Overbite Dimple chin Breech presentation Distal arthrogryposis Adducted thumb Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Rocker bottom foot Hypoplasia of the brainstem Congenital contracture Rheumatoid arthritis Nasal speech Short neck Wide nasal bridge Tongue thrusting Chest pain Motor delay Amyloidosis Macule Hypermelanotic macule Intestinal obstruction Meningitis Peripheral demyelination Migraine Nausea Reticulocytosis Vertigo Lymphadenopathy Paresthesia Papule Erythema Headache Anisometropia Paroxysmal bursts of laughter Episodic fever Myositis High palate Optic neuritis Ptosis Cryptorchidism Muscle weakness Fasciitis Hepatic amyloidosis Orchitis Abnormality of the sacroiliac joint Conjunctival hyperemia Erysipelas Abnormal myocardium morphology Neuritis Pleuritis Chills Lymphocytosis Periorbital edema Elevated C-reactive protein level Recurrent pharyngitis Peritonitis Myopia Fetal akinesia sequence Feeding difficulties Hypercholesterolemia Abnormality of lipid metabolism Protuberant abdomen Steatorrhea Malnutrition Portal hypertension Cachexia Hyperlipidemia Esophageal varix Atherosclerosis Increased body weight Leukodystrophy Hepatic fibrosis Hypertriglyceridemia Pulmonary arterial hypertension Acute hepatic failure Foam cells Hepatic steatosis Facial asymmetry Increased antibody level in blood Bowing of the legs Hyperostosis Disproportionate short-limb short stature Hydrops fetalis Short palm Carious teeth Hyperlipoproteinemia Proptosis Severe short stature Abnormality of the skeletal system Adrenal calcification Bone-marrow foam cells Periportal fibrosis Vacuolated lymphocytes Ascites Cirrhosis Restlessness Premature loss of teeth Myoclonus Fatigue Gait disturbance Spasticity Gingival recession Periodontitis Gingival bleeding Apnea Fragile skin Atrophic scars Hyperextensible skin Osteoarthritis Lymphoma Joint hypermobility Rigidity Joint stiffness Malabsorption Myokymia Scarring Developmental regression Hepatosplenomegaly Jaundice Nocturnal seizures Exaggerated startle response Esophagitis Epileptic encephalopathy Hiatus hernia Hypokinesia Loss of consciousness Myotonia Congenital hip dislocation Fasciculations Frequent falls Tibial bowing Thrombocytosis Muscular hypotonia Vertebral fusion Amyoplasia Hypoplastic heart Multiple pterygia Meningocele Thin ribs Cystic hygroma Short finger Abnormality of metabolism/homeostasis Akinesia Increased susceptibility to fractures Lymphedema Depressed nasal ridge Pulmonary hypoplasia Intrauterine growth retardation Abnormal cervical curvature Pes cavus Growth delay Abnormality of the nose Sensorineural hearing impairment Global developmental delay Renal amyloidosis Hernia of the abdominal wall Episcleritis Recurrent aphthous stomatitis Broad foot Camptodactyly of finger Progressive sensorineural hearing impairment Restrictive ventilatory defect Abnormality of the voice Urticaria Abnormal palate morphology Ichthyosis Delayed puberty Low-set ears Gonadal tissue inappropriate for external genitalia or chromosomal sex Thoracic dysplasia Recurrent infections Stage 5 chronic kidney disease Lethargy Pallor Abnormality of the kidney Proteinuria Micropenis Renal insufficiency Ambiguous genitalia Cortical irregularity Periosteal thickening of long tubular bones Hyperesthesia Cortical thickening of long bone diaphyses Anasarca Calvarial hyperostosis Amenorrhea Primary amenorrhea Ovarian gonadoblastoma Ambiguous genitalia, male True hermaphroditism Anuria Streak ovary Uterus didelphys Ambiguous genitalia, female Diffuse mesangial sclerosis Abnormal renal physiology Glomerulosclerosis Gonadoblastoma Male pseudohermaphroditism Aniridia Gonadal dysgenesis Glomerulopathy Focal segmental glomerulosclerosis Glomerulonephritis Chin with H-shaped crease


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