Fever, and Pectus excavatum

Diseases related with Fever and Pectus excavatum

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

Top matches:

Combined immunodeficiency (CID) due to ORAI1 deficiency is a form of CID due to Calcium release activated Ca2+ (CRAC) channel dysfunction (see this term) characterized by recurrent infections, congenital myopathy, ectodermal dysplasia and anhydrosis.

COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY Is also known as cid due to orai1 deficiency|immune dysfunction with t-cell inactivation due to calcium entry defect 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO ORAI1 DEFICIENCY

Hereditary lymphedema III is a form of generalized lymphatic dysplasia (GLD), which is characterized by a uniform, widespread lymphedema affecting all segments of the body, with systemic involvement such as intestinal and/or pulmonary lymphangiectasia, pleural effusions, chylothoraces and/or pericardial effusions. In LMPH3, there is a high incidence of nonimmune hydrops fetalis (NIHF) with either death or complete resolution of the neonatal edema but childhood onset of lymphedema with or without systemic involvement. Mild facial edema is often present. Patients have normal intelligence and no seizures (summary by Fotiou et al., 2015).

LYMPHEDEMA, HEREDITARY, III; LMPH3 Is also known as generalized lymphatic dysplasia of fotiou

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, III; LMPH3

Native American myopathy (NAM) is a neuromuscular disorder characterized by weakness, arthrogryposis, kyphoscoliosis, short stature, cleft palate, ptosis and susceptibility to malignant hyperthermia during anesthesia.

NATIVE AMERICAN MYOPATHY Is also known as nam|myopathy, congenital, with myopathic facies, scoliosis, and malignant hyperthermia|native american myopathy|congenital myopathy-cleft palate-malignant hyperthermia syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NATIVE AMERICAN MYOPATHY

Other less relevant matches:

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

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

Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

Medium match MENKES DISEASE

Menkes disease (MD) is a usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.

MENKES DISEASE Is also known as steely hair syndrome|md|trichopoliodystrophy|mnk|menkes syndrome|steely hair disease|copper transport disease|mk|kinky hair syndrome|x-linked copper deficiency|kinky hair disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MENKES DISEASE

Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

OCCIPITAL HORN SYNDROME Is also known as eds ix, formerly|eds ix|ehlers-danlos syndrome type ix|ehlers-danlos syndrome type 9|x-linked cutis laxa|ehlers-danlos syndrome, occipital horn type, formerly|eds9, formerly|cutis laxa, x-linked, formerly

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OCCIPITAL HORN SYNDROME

Schwartz-Jampel syndrome (SJS) is characterised by myotonia and osteoarticular abnormalities.

SCHWARTZ-JAMPEL SYNDROME Is also known as myotonic chondrodystrophy|schwartz-jampel-aberfeld syndrome|burton skeletal dysplasia|sjs|myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies|dysostosis enchondralis metaepiphysaria, catel-hempel type|burton syndrome|aberfeld syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET MENDELIAN

More info about SCHWARTZ-JAMPEL SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Pectus excavatum

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

High palate

Uncommon Symptoms - Between 30% and 50% cases

Ptosis

Common Symptoms - More than 50% cases

Scoliosis

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Cryptorchidism Growth delay Microcephaly Epicanthus Micrognathia Dilatation Abnormal facial shape Muscular hypotonia Muscle weakness Failure to thrive Pectus carinatum Diarrhea Myopathy Malignant hyperthermia Kyphosis Strabismus Hypertelorism Kyphoscoliosis Abnormal heart morphology Umbilical hernia Lymphedema Webbed neck Gastroesophageal reflux Polyhydramnios Flexion contracture Inguinal hernia Osteoporosis Hernia Atrial septal defect Intellectual disability, severe Low-set ears Arthrogryposis multiplex congenita Cleft palate Hearing impairment Postnatal growth retardation Nystagmus Skeletal muscle atrophy Motor delay Hypertonia Pulmonic stenosis Poor suck Chronic diarrhea Talipes equinovarus Myopathic facies Wormian bones

Rare Symptoms - Less than 30% cases

Anxiety Hydronephrosis Abnormal cardiac septum morphology High forehead Pes planus Posteriorly rotated ears Abnormality of the coagulation cascade Hyperhidrosis Myalgia Hyperlordosis Joint hypermobility Abnormal bleeding Shock Myotonia Acute kidney injury Constipation Low hanging columella Pain Ventricular septal defect Hypoplasia of the corpus callosum Behavioral abnormality Abnormality of cardiovascular system morphology Patent ductus arteriosus Vomiting Abdominal distention Neurological speech impairment Abnormality of the face Joint laxity Feeding difficulties in infancy Narrow chest Joint hyperflexibility Full cheeks Abnormality of the metaphysis Bowing of the long bones Cutis laxa Platyspondyly Coarse hair Hyperextensible skin Mask-like facies Exostoses Atypical scarring of skin Hypothermia Bladder diverticulum Venous insufficiency Jaundice Genu valgum Coxa vara Myopia Everted lower lip vermilion Long philtrum Coarctation of aorta Fine hair Sparse scalp hair Abnormal eyebrow morphology Cataract Brachydactyly Elevated serum creatine phosphokinase Hip dysplasia Intellectual disability, mild Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Sparse hair Bruising susceptibility High, narrow palate Dental malocclusion Coxa valga Short neck Cardiomyopathy Arrhythmia Blepharophimosis Heat intolerance Dry skin Nonimmune hydrops fetalis Cognitive impairment Long face Sepsis Feeding difficulties Gowers sign Open mouth Telecanthus Abnormality of the skeletal system Proximal muscle weakness Ventriculomegaly Respiratory insufficiency Spasticity Brachycephaly Hyporeflexia Cupped ear Midface retrusion Splenomegaly Edema Renal insufficiency Thrombocytopenia Scarring Neutropenia Recurrent infections Ectodermal dysplasia Convex nasal ridge Specific learning disability Cerebral calcification Hepatitis Blue sclerae Abnormality of lipid metabolism Hypopigmentation of hair Cholestasis Recurrent urinary tract infections Large fontanelles Prolonged neonatal jaundice Dental crowding Narrow face Tarsal synostosis Short palm Woolly hair Abnormality of the pinna Abnormal carotid artery morphology Pneumonia Hip dislocation Osteopenia Difficulty walking Dysphagia Therapeutic abortion Metaphyseal spurs Hypocupremia Pili torti Dolichocephaly Spontaneous hematomas Arterial stenosis Encephalopathy Trichorrhexis nodosa Lymphadenopathy Aplasia/Hypoplasia of the abdominal wall musculature Chondrocalcinosis Multiple joint dislocation Hypocalcemia Prominent occiput Cerebellar atrophy Malabsorption Severe global developmental delay Hypoplasia of the thymus Developmental regression Pyelonephritis Hypoglycemia Protracted diarrhea Anemia Dementia Cerebral atrophy Fatigue Recurrent aphthous stomatitis Intrauterine growth retardation Dysarthria Abnormality of the palpebral fissures Hyperkeratosis pilaris Curly hair Reduced bone mineral density Nevus Wide mouth Hyperkeratosis Postductal coarctation of the aorta Nausea and vomiting Stomatitis Opisthotonus Thickened skin Osteomyelitis Cerebral hemorrhage Metaphyseal widening Intracranial hemorrhage Respiratory insufficiency due to muscle weakness Encephalitis Abnormal palate morphology Spastic tetraparesis Joint dislocation Anhidrosis Episodic fever Neurodegeneration Amelogenesis imperfecta Progressive encephalopathy Choreoathetosis Progressive neurologic deterioration Tetraparesis Intellectual disability, profound Generalized-onset seizure Gastrointestinal hemorrhage Chorea Recurrent fractures Hypopigmentation of the skin Immunodeficiency Osteomalacia Osteolysis Abnormality of epiphysis morphology Elbow dislocation Ectopia lentis Cachexia Abnormality of the urinary system Dysphonia Laryngomalacia Generalized hirsutism EMG abnormality Low anterior hairline Increased bone mineral density Nephrolithiasis Skeletal muscle hypertrophy Decreased body weight Pulmonary arterial hypertension Abnormality of the ribs Decreased testicular size Microcornea Flat face Micromelia Prominent nasal bridge Attention deficit hyperactivity disorder Joint stiffness Overfolded helix High pitched voice Apnea Flexion contracture of toe Long eyelashes in irregular rows Elevated aldolase level Testicular torsion Odontogenic neoplasm Shoulder flexion contracture Pursed lips Prenatal movement abnormality Metatarsus valgus Protrusio acetabuli Abnormally ossified vertebrae Weak voice Spinal rigidity Wrist flexion contracture Distichiasis Abnormality of the pharynx Aplasia/Hypoplasia affecting the eye Trismus Blepharospasm Sprengel anomaly Abnormality of the ureter Hip contracture Abnormality of immune system physiology Increased number of teeth Irritability Skeletal dysplasia Redundant skin Hiatus hernia Abnormality of fibula morphology Avascular necrosis of the capital femoral epiphysis Prominent superficial veins Broad ribs Generalized joint laxity Abnormality of the wrist Premature skin wrinkling Esophagitis Down-sloping shoulders Abnormality of the skull Carpal synostosis Thick hair Soft skin Short clavicles Short humerus Dislocated radial head Nasogastric tube feeding Orthostatic hypotension Limited elbow extension Delayed cranial suture closure Rickets Bilateral ptosis Femoral hernia Aplastic clavicle Narrow mouth Bladder carcinoma Delayed skeletal maturation Gait disturbance Visual impairment Humerus varus Carotid artery tortuosity Aortic rupture Abnormality of esophagus physiology Ureteral obstruction Persistent open anterior fontanelle Limited knee extension Pelvic bone exostoses Gastroparesis Rudimentary to absent tibiae Aplasia/hypoplasia of the humerus Capitate-hamate fusion Abnormality of the pubic bone Large iliac wings Broad clavicles Long neck Synostosis of joints Absent tibia Abnormality of the sense of smell Keloids Preductal coarctation of the aorta Superior pectus carinatum Reduced factor XIII activity Abnormality of the cerebral white matter Vesicoureteral reflux Brain atrophy Prune belly Delayed eruption of teeth Tapered finger Pulmonary lymphangiectasia Iris coloboma Falls Cleft upper lip Genital edema Finger syndactyly Otitis media Short philtrum Camptodactyly of finger Coloboma Abnormality of the kidney Deeply set eye Macrotia Mandibular prognathia Cerebral cortical atrophy Areflexia Agenesis of corpus callosum Esotropia Focal-onset seizure Depressivity Absence seizures Bifid scrotum Aplasia/Hypoplasia of the cerebellum Sparse eyebrow Pyloric stenosis Chylothorax Abnormality of the genitourinary system Drooling Aplasia/Hypoplasia of the corpus callosum Widely spaced teeth Cutaneous syndactyly Pointed chin Febrile seizures Postnatal microcephaly Aganglionic megacolon Abnormality of the genital system Recurrent otitis media Stomatocytosis Intestinal lymphangiectasia Facial edema Sloping forehead Dehydration Tetralogy of Fallot Conductive hearing impairment Hypospadias Hallux valgus Metabolic acidosis Ventricular fibrillation Deep philtrum Ventricular arrhythmia Tachypnea Tented upper lip vermilion Lumbar hyperlordosis Decreased fetal movement Hypotension Congenital contracture Muscle cramps Ankle contracture Hyperkalemia Tachycardia Lactic acidosis Limb muscle weakness Muscular dystrophy Restrictive deficit on pulmonary function testing Stroke Multiple skeletal anomalies Rigidity Acidosis Malar flattening Short palpebral fissure Abnormality of the sternum Absent speech Sinus tachycardia Microphthalmia Syndactyly Short nose Facial palsy Abnormality of the foot Talipes Frontal bossing Wide nasal bridge Downturned corners of mouth Mixed respiratory and metabolic acidosis Long upper lip Rhabdomyolysis Congenital ptosis Diaphragmatic eventration Respiratory arrest Severe lactic acidosis Breech presentation Hyperphosphatemia Generalized muscle weakness Thoracic kyphosis Myoglobinuria Scaphocephaly Narrow forehead Rocker bottom foot Ectopic kidney Gonadal neoplasm Arnold-Chiari malformation Neurofibromas Abnormality of color vision Leukocytosis Radial deviation of finger Cubitus valgus Myelodysplasia Patent foramen ovale Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Bicuspid aortic valve Male infertility Azoospermia Plagiocephaly Amblyopia Left ventricular hypertrophy Clumsiness Primary amenorrhea Low posterior hairline Ventricular hypertrophy Amenorrhea Wide intermamillary distance Cystic hygroma Abnormality of the vertebral column Triangular face Optic disc hypoplasia Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Pes cavus Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Asymmetry of the thorax Neuroblastoma Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Drusen Arnold-Chiari type I malformation Gonadal dysgenesis Abnormality of blood and blood-forming tissues Hypothyroidism Hemolytic anemia Supernumerary nipple Broad hallux phalanx Generalized muscle hypertrophy Uplifted earlobe Atypical absence seizures Happy demeanor Deep plantar creases Subglottic stenosis Broad eyebrow Prominent nasal tip Esodeviation Broad columella Large earlobe Abnormal morphology of the hippocampus Bruxism Abnormality of the gastrointestinal tract Tracheal stenosis Misalignment of teeth Chronic constipation Periorbital edema Pulmonary artery stenosis External ear malformation Drowsiness Submucous cleft hard palate Abnormal eye morphology Large basal ganglia Ascites Clinodactyly Facial asymmetry Hypotrichosis Leukemia Broad forehead Hydrops fetalis Pericardial effusion Proptosis Abdominal pain Hypogonadism Rod-cone dystrophy Cellulitis Pulmonary artery sling Headache Deep venous thrombosis Congestive heart failure Hydrocele testis Varicose veins Generalized edema Depressed nasal bridge Spherocytosis Sensorineural hearing impairment Neoplasm Aplasia/Hypoplasia of the cerebral white matter Abnormally straight spine


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