Fever, and Webbed neck

Diseases related with Fever and Webbed neck

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

Top matches:

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

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

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

Other less relevant matches:

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

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

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

SMITH-LEMLI-OPITZ SYNDROME Is also known as rutledge lethal multiple congenital anomaly syndrome|slos|lethal acrodysgenital syndrome|rsh syndrome|slo syndrome|7-dehydrocholesterol reductase deficiency|polydactyly, sex reversal, renal hypoplasia, and unilobar lung

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SMITH-LEMLI-OPITZ SYNDROME

ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7; IIAE7 Is also known as herpes simplex encephalitis, susceptibility to, 5

Related symptoms:

  • Seizures
  • Fever
  • Headache
  • Rigidity
  • Confusion


SOURCES: OMIM MENDELIAN

More info about ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7; IIAE7

Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

RAPID-ONSET DYSTONIA-PARKINSONISM Is also known as dyt12|dystonia-parkinsonism, rapid-onset|rdp|dystonia 12

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Motor delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPID-ONSET DYSTONIA-PARKINSONISM

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

Top 5 symptoms//phenotypes associated to Fever and Webbed neck

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Lymphedema Low-set ears Ptosis Abnormal facial shape Strabismus Hypertelorism Micrognathia Scoliosis Hypertonia Hearing impairment Epicanthus High palate Sensorineural hearing impairment Growth delay Proptosis Cryptorchidism Gastroesophageal reflux Atrial septal defect Edema Short neck Feeding difficulties Depressed nasal bridge Downslanted palpebral fissures Ventricular septal defect Abnormal heart morphology Microcephaly Amblyopia Nystagmus Flexion contracture Rigidity Low posterior hairline Hydrocephalus Muscular hypotonia Cleft palate Motor delay Wide nasal bridge Talipes equinovarus Anteverted nares Hernia Congenital diaphragmatic hernia Glaucoma Constipation Kyphoscoliosis Hyperhidrosis Hip dislocation Pulmonic stenosis Vomiting Headache Neoplasm Torticollis Behavioral abnormality Syndactyly Thrombocytopenia Poor suck Hyperactivity Pectus excavatum Polyhydramnios Anemia Splenomegaly

Rare Symptoms - Less than 30% cases

Cutis marmorata Blue sclerae Hypoglycemia Aggressive behavior Microdontia Breech presentation Thick eyebrow Abnormality of digit Opisthotonus Abnormal cardiac septum morphology Autistic behavior 2-3 toe syndactyly Narrow mouth Toe syndactyly Renal hypoplasia Micromelia Brachycephaly Retrognathia Delayed skeletal maturation Inguinal hernia Proximal placement of thumb Self-injurious behavior Congestive heart failure Pulmonary hypoplasia Pyloric stenosis Abnormality of the urinary system Sleep disturbance Renal cyst Prominent forehead Wide intermamillary distance Left ventricular hypertrophy Clinodactyly Brachydactyly Myopia Cardiomyopathy Intellectual disability, mild Hyperkalemia Abnormality of cardiovascular system morphology Patent ductus arteriosus Cataract Coarctation of aorta Posteriorly rotated ears Hypertrophic cardiomyopathy Low-set, posteriorly rotated ears Postnatal growth retardation High, narrow palate Spasticity Failure to thrive Autism Intrauterine growth retardation Triangular face Severe short stature Hypospadias Long philtrum Intellectual disability, severe Optic atrophy Rhizomelia Hypertension Elbow flexion contracture Bicuspid aortic valve Patent foramen ovale Metatarsus adductus Upper limb undergrowth Overlapping fingers Hypertropia Malignant hyperthermia Choanal atresia Abnormality of the coagulation cascade Leukocytosis Midface retrusion Dilatation Dysarthria Tremor Kyphosis Dysphagia Dystonia Depressivity Anxiety Abnormality of movement Postural instability Parkinsonism Bradykinesia Myelodysplasia Pectus carinatum Drooling Tapered finger Bruising susceptibility Limb dystonia Vertigo Leukemia Pallor Oculogyric crisis Recurrent infections Cerebellar atrophy Fatigue Nonimmune hydrops fetalis Cellulitis Hemolytic anemia Hyperreflexia Progressive neurologic deterioration Deep philtrum Abnormal bleeding Decreased fetal movement Sleep-wake cycle disturbance Gastroparesis Duplication of internal organs Projectile vomiting Left-to-right shunt Esophageal stenosis Hypoplastic male external genitalia Abnormal posturing Curly eyelashes Absent hand Phocomelia Supernumerary ribs Otitis media with effusion Hand oligodactyly Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Optic nerve coloboma Abnormality of the gastrointestinal tract Malrotation of colon Abnormality of the umbilicus Reduced renal corticomedullary differentiation Skeletal dysplasia Postaxial polydactyly Torsion dystonia Finger syndactyly Aplasia/Hypoplasia affecting the eye Attention deficit hyperactivity disorder Wide mouth Feeding difficulties in infancy Abnormality of the kidney Intellectual disability, moderate Hydronephrosis Weak voice Micropenis Hypoplastic labia majora Polydactyly Upslanted palpebral fissure Cerebellar hypoplasia Microphthalmia Short nose Diarrhea Hypoplasia of the corpus callosum Ventriculomegaly Abnormal localization of kidney Dysplastic tricuspid valve Hypoplastic radial head Craniofacial dystonia Broad alveolar ridges Personality disorder Incoordination Severe muscular hypotonia Tricuspid regurgitation Ureteropelvic junction obstruction Hyperkinesis Clubbing Obsessive-compulsive behavior Impulsivity Ectopic calcification Hypokinesia Short metatarsal Episodic fever Intellectual disability, progressive Hypoplasia of the radius Limb hypertonia Relative macrocephaly Widely spaced teeth Excessive salivation Gastroschisis Spontaneous abortion Increased body weight Low anterior hairline Infantile encephalopathy Aspiration Short middle phalanx of finger Involuntary movements Focal dystonia Encephalopathy Esophagitis Hypocholesterolemia Aspiration pneumonia Retrocollis Hiatus hernia Decreased circulating aldosterone level Gait disturbance Advanced eruption of teeth Poor appetite Ectrodactyly Babinski sign Ectopic kidney Muscular hypotonia of the trunk Oligodactyly Abnormality of the eye Hypoplastic nipples Irritability Dislocated radial head Weak cry Lethargy Abnormality of eye movement Limited elbow extension Choreoathetosis Iris coloboma Hypopigmentation of the skin Abnormal renal morphology Bifid scrotum Mesomelia Hypoplasia of the frontal lobes Adrenal insufficiency Periventricular gray matter heterotopia Overlapping toe Tracheal stenosis Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Talipes calcaneovalgus Increased serum testosterone level Gait ataxia Biparietal narrowing Unilateral renal agenesis Hammertoe Clitoral hypertrophy Hyponatremia Precocious puberty Hip subluxation Reduced number of teeth Median cleft palate Optic nerve hypoplasia Abnormality of the metacarpal bones Atrioventricular canal defect Abnormality of the gallbladder Renal hypoplasia/aplasia Male pseudohermaphroditism Severe photosensitivity Opsoclonus Septate vagina Facial capillary hemangioma Severe failure to thrive Abnormality of limbs Elevated 7-dehydrocholesterol Microglossia Confusion Encephalitis Postaxial foot polydactyly Long eyelashes Self-mutilation Nuchal rigidity Abnormal eyelash morphology Ataxia Severe intrauterine growth retardation Abnormal lung lobation Sclerocornea Epiphyseal stippling Hypopigmentation of hair Aplasia/Hypoplasia of the radius Ulnar deviation of finger Unsteady gait Scrotal hypoplasia Alveolar ridge overgrowth Mutism Narrow forehead Neuronal loss in central nervous system Postaxial hand polydactyly Sex reversal Bifid tongue Apraxia Bicornuate uterus Increased nuchal translucency Broad-based gait Cholestatic liver disease Dysphonia Progressive cerebellar ataxia Emotional lability Abnormality of the larynx Limb undergrowth Resting tremor Peripheral demyelination Dandy-Walker malformation Gastrointestinal dysmotility Hypomimic face Renal agenesis Intestinal malrotation Premature birth Gliosis Eczema Aplasia/Hypoplasia of the corpus callosum Gingival overgrowth Abnormal dermatoglyphics Hypercholesterolemia Holoprosencephaly Inability to walk Abnormality of dental enamel Mesomelic short stature Hyperbilirubinemia Multicystic kidney dysplasia Short toe Short thumb Dental crowding Ambiguous genitalia Aganglionic megacolon Abnormality of the genital system Abnormal form of the vertebral bodies Split hand Recurrent otitis media Excessive daytime somnolence Cutaneous photosensitivity Intellectual disability, profound Abnormality of the ribs Hypoplasia of penis Oligohydramnios Increased number of teeth Optic disc hypoplasia Recurrent urinary tract infections Tachypnea Hyperphosphatemia Low hanging columella Thoracic kyphosis Myoglobinuria Scaphocephaly Acute kidney injury Rhabdomyolysis Abnormality of the sternum Myopathic facies Ventricular fibrillation Myotonia Ventricular arrhythmia Shock Respiratory arrest Lumbar hyperlordosis Hypotension Muscle cramps Metabolic acidosis Joint hypermobility Tachycardia Lactic acidosis Limb muscle weakness Arthrogryposis multiplex congenita Muscular dystrophy Stroke Hyperlordosis Severe lactic acidosis Diaphragmatic eventration Proximal muscle weakness Abnormality of the foot Meningitis Abnormal lung morphology Mitral regurgitation Cardiomegaly Mitral valve prolapse Esotropia Short metacarpal Recurrent fractures Flat face Arachnodactyly Talipes Genu valgum Narrow chest Congenital ptosis Hypermetropia Microtia Joint laxity Pes planus Osteopenia Cerebral cortical atrophy Osteoporosis Respiratory distress Frontal bossing Mixed respiratory and metabolic acidosis Sinus tachycardia Long upper lip Myalgia Acidosis Microretrognathia Intestinal lymphangiectasia Scarring Weight loss Respiratory failure Recurrent respiratory infections Visual loss Immunodeficiency Respiratory insufficiency Hepatomegaly Genital edema Pulmonary lymphangiectasia Prune belly Facial edema Stomatocytosis Nausea and vomiting Chylothorax Periorbital edema Spherocytosis Generalized edema Varicose veins Hydrocele testis Deep venous thrombosis Pericardial effusion Cupped ear Hydrops fetalis Ascites Hypothyroidism Neurological speech impairment Lymphadenopathy Pes cavus Verrucae Elevated serum creatine phosphokinase Arrhythmia Malar flattening Renal insufficiency Myopathy Muscle weakness Abnormal neutrophil count Macronodular cirrhosis Erysipelas Granulocytopenia Myeloproliferative disorder Abnormality of the optic nerve Hypercoagulability Cirrhosis Acute leukemia Acute myeloid leukemia Myeloid leukemia Prolonged bleeding time Chronic otitis media Intracranial hemorrhage Leukopenia Bone marrow hypocellularity Pancytopenia Hypotelorism Migraine Hematuria Joint dislocation Accelerated skeletal maturation Hypertrichosis Reduced factor XII activity Macrocephaly Delayed speech and language development Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Superior pectus carinatum Abnormality of the dentition Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Asymmetry of the thorax Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Drusen Arnold-Chiari type I malformation Abnormality of the skeletal system Clinodactyly of the 5th finger Abnormality of blood and blood-forming tissues Cleft upper lip High myopia Otitis media Vesicoureteral reflux Sepsis Microcornea Delayed eruption of teeth Single transverse palmar crease Highly arched eyebrow Small hand Downturned corners of mouth Hirsutism Thin vermilion border Astigmatism Pneumonia Synophrys Small for gestational age Prominent nasal bridge Craniosynostosis Respiratory tract infection Abnormality of the pinna Camptodactyly Telecanthus Proteinuria Conductive hearing impairment Thin upper lip vermilion Mandibular prognathia Gonadal dysgenesis Neuroblastoma Sandal gap Small face Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Shoulder dislocation Multiple joint dislocation Talipes equinovalgus Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease Generalized osteoporosis Metacarpophalangeal joint hyperextensibility 11 pairs of ribs Abnormally large globe Aortic root aneurysm Narrow nasal bridge Restrictive ventilatory defect Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Spondyloepiphyseal dysplasia Radioulnar synostosis Hyperextensible skin Cutis laxa Broad distal phalanges of all fingers Bilateral elbow dislocations Abnormality of the vertebral column Clumsiness Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Radial deviation of finger Cubitus valgus Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Arnold-Chiari malformation Azoospermia Plagiocephaly Primary amenorrhea Pain Ventricular hypertrophy Amenorrhea Dental malocclusion Abdominal distention Facial asymmetry Hypotrichosis Broad forehead Sparse hair Abdominal pain Hypogonadism Rod-cone dystrophy Cognitive impairment Hyperphenylalaninemia


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