Fever, and Facial asymmetry

Diseases related with Fever and Facial asymmetry

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

Top matches:

Medium 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

The newly described 2q23.1 microdeletion syndrome includes severe intellectual deficit with pronounced speech delay, behavioral abnormalities including hyperactivity and inappropriate laughter, short stature and seizures.

2Q23.1 MICRODELETION SYNDROME Is also known as pseudo-angelman syndrome|del(2)(q23.1)|monosomy 2q23.1

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 2Q23.1 MICRODELETION SYNDROME

Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Other less relevant matches:

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

Medium match PROTEUS SYNDROME

Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

Medium 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

Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

Sézary syndrome (SS) is an aggressive form of cutaneous T-cell lymphoma characterized by a triad of erythroderma, lymphadenopathy and circulating atypical lymphocytes (Sézary cells).

SÉZARY SYNDROME Is also known as sÉzary lymphoma

Related symptoms:

  • Neoplasm
  • Abnormal facial shape
  • Peripheral neuropathy
  • Hepatomegaly
  • Fever


SOURCES: MESH ORPHANET MENDELIAN

More info about SÉZARY SYNDROME

Top 5 symptoms//phenotypes associated to Fever and Facial asymmetry

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Pain

Uncommon Symptoms - Between 30% and 50% cases

High palate Global developmental delay Clinodactyly of the 5th finger Constipation Ptosis Short stature Micrognathia Low-set ears Hypertelorism Cryptorchidism Neoplasm Scoliosis Proptosis Headache Malar flattening Hearing impairment Irregular hyperpigmentation Dolichocephaly Feeding difficulties Immunodeficiency Myopia Lymphedema Patent ductus arteriosus Vomiting Clinodactyly Nystagmus Abnormality of cardiovascular system morphology Hyperactivity Gastroesophageal reflux Aggressive behavior Postnatal growth retardation Broad forehead Bulbous nose Splenomegaly Atrial septal defect Cataract Congestive heart failure Short chin Epicanthus Kyphoscoliosis Ataxia Abnormality of the skeletal system Growth delay Short palm Irritability Edema Behavioral abnormality

Rare Symptoms - Less than 30% cases

Muscular hypotonia Carious teeth Intellectual disability, mild Feeding difficulties in infancy Dilatation Polyhydramnios Thrombocytopenia Abnormal heart morphology Hypogonadism Abdominal pain Hypertrophic cardiomyopathy Abnormal cardiac septum morphology Hypotrichosis Ventricular septal defect Depressed nasal bridge Downslanted palpebral fissures Short palpebral fissure Hyperostosis Syndactyly Toe syndactyly Pulmonic stenosis Triangular face Coarctation of aorta Bicuspid aortic valve High, narrow palate Growth abnormality 2-3 toe syndactyly Vesicoureteral reflux Hydronephrosis Sensorineural hearing impairment Cognitive impairment Bruising susceptibility Severe short stature Abdominal distention Umbilical hernia Thickened skin Abnormal vertebral morphology Recurrent urinary tract infections Abnormality of the genital system Multiple cafe-au-lait spots Lymphoma Arteriovenous malformation Renal cyst Weight loss Renal insufficiency Ventriculomegaly Intrauterine growth retardation Hepatomegaly Failure to thrive Hydroureter Abnormality of skin pigmentation Dental malocclusion Lymphangioma Respiratory distress Azoospermia Myelodysplasia Neurofibromas Abnormality of blood and blood-forming tissues Asymmetry of the thorax Macrocephaly Hip dislocation Optic atrophy Hernia Recurrent infections Macrotia Carcinoma Intellectual disability, moderate Finger syndactyly Abnormality of the dentition Leukemia Wide nasal bridge Visual impairment Protruding ear Short foot Sleep disturbance Small hand Calvarial hyperostosis Autistic behavior Cellulitis Thick eyebrow Intellectual disability, severe Frontal bossing EEG abnormality Generalized hypotonia Motor delay Autism Delayed speech and language development Astigmatism Cleft palate Gait ataxia Hypermetropia Brachydactyly Generalized hirsutism Thin upper lip vermilion Leukocytosis Open mouth Dental crowding Absent thumb Tremor Hearing abnormality Ectopic kidney Hypoplasia of the ulna Triphalangeal thumb Alopecia Myeloid leukemia External ear malformation Aplasia/Hypoplasia of the radius Neoplasm of the skin Squamous cell carcinoma Absent radius Glucose intolerance Acute myeloid leukemia Tracheoesophageal fistula Aplastic anemia Chromosome breakage Acute monocytic leukemia Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Abnormality of femur morphology Abnormal eyelid morphology Bicornuate uterus Abnormality of the thumb Peripheral neuropathy Abnormality of the testis Abnormality of the uterus Skeletal muscle atrophy Abnormality of the upper limb B-cell lymphoma Abnormality of the ulna Erythroderma Ectropion Hyperinsulinemia Hypopigmented skin patches Abnormality of the urinary system Hydrocephalus Small for gestational age Abnormality of the liver Abnormality of the kidney Abnormality of the eye Pes planus Dry skin Pruritus Hypothyroidism Nail dystrophy Diabetes mellitus Upslanted palpebral fissure Hypospadias Microphthalmia Fatigue Anal atresia Hyperreflexia Anemia Mandibular hyperostosis Hypertrophy of skin of soles Depigmentation/hyperpigmentation of skin Connective tissue nevi Central heterochromia Neoplasm of the thymus Abnormal subcutaneous fat tissue distribution Retinal nonattachment Bronchogenic cyst Retinal hamartoma Thymus hyperplasia Abnormality of the foot Vertigo Hepatosplenomegaly Cafe-au-lait spot Abnormality of vision Reduced bone mineral density Meckel diverticulum Renal hypoplasia/aplasia Cranial nerve paralysis Leukopenia Type I diabetes mellitus Horseshoe kidney Bone marrow hypocellularity Hypergonadotropic hypogonadism Spina bifida Insulin resistance Short thumb Telangiectasia Neutropenia Abnormality of the face Aganglionic megacolon Palmoplantar keratoderma Lymphadenopathy Choanal atresia Pancytopenia Oligohydramnios Sloping forehead Tetralogy of Fallot Abnormal immunoglobulin level Renal agenesis Skin rash Hypopigmentation of the skin Nocturnal lagophthalmos Chromosomal breakage induced by crosslinking agents Low-grade fever Renal dysplasia Abnormality of the outer ear Sacral dimple Accelerated skeletal maturation Hematuria Multicystic kidney dysplasia Pointed chin Cerebral visual impairment Hypohidrosis Tall stature Chronic diarrhea Nephrolithiasis Long eyelashes Broad-based gait Nephropathy Hepatitis Sepsis Full cheeks Thick vermilion border Hepatic failure Unsteady gait Nausea and vomiting Abnormality of the pinna Anxiety Urinary incontinence Neonatal hypotonia Deeply set eye T-cell lymphoma Increased intracranial pressure Poor head control Polydipsia Bruxism Lichenification Fulminant hepatic failure Tongue thrusting Hyperorality Cerebellar cortical atrophy Toenail dysplasia Episodic vomiting Hair-pulling Periorbital fullness Delayed CNS myelination Concave nasal ridge Heat intolerance Recurrent pyelonephritis Arachnoid cyst Recurrent skin infections Abnormality of the periventricular white matter Hypertension Palpebral edema Proteinuria Impaired pain sensation Poor eye contact Weak cry Hypoplastic toenails Large hands Polycystic kidney dysplasia Prominent supraorbital ridges Recurrent upper respiratory tract infections Stage 5 chronic kidney disease Abnormal lymphocyte morphology Clubbing Aplasia/Hypoplasia of the iris Aplasia/Hypoplasia of the uvula Tetraplegia Abnormality of eye movement Abnormal pyramidal sign Elevated hepatic transaminase Abnormal facial expression Cerebral cortical atrophy Cerebral atrophy Dystonia Cerebellar atrophy Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Neoplasm of head and neck CNS hypomyelination Deficient excision of UV-induced pyrimidine dimers in DNA Gangrene Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Absent testis Hypoplastic anemia Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Brain atrophy Episodic fever Keratitis Absent speech Polyuria Facial hyperostosis Acute kidney injury Keratoconjunctivitis sicca Agenesis of corpus callosum Hyporeflexia Dysuria Abnormality of the pleura Enuresis Wolff-Parkinson-White syndrome Neurogenic bladder Obesity Urinary retention Midface retrusion Corpus callosum atrophy Pyelonephritis Facial grimacing Urethral stenosis Long philtrum Diarrhea Mild proteinuria Enuresis nocturna Urethral obstruction Urethral valve Gait disturbance Encopresis Cerebral white matter atrophy Cerebral hypomyelination Nevus sebaceous Lymphopenia Narrow internal auditory canal Myotonia Periodic paralysis Scaphocephaly Hyperthyroidism Abnormal heart valve morphology Slender long bone Long nose Agenesis of permanent teeth Prolonged QT interval Hyperkalemia High pitched voice Loss of consciousness Preauricular pit Hypokalemia Delayed eruption of permanent teeth Short metatarsal Ventricular arrhythmia Oligodontia Ventricular tachycardia Scapular winging Cardiac arrest Short phalanx of finger Decreased body weight Hypoplasia of dental enamel Palpitations Tetraparesis Renal hypoplasia Specific learning disability Persistence of primary teeth Toe clinodactyly Syncope Abnormal bleeding Poor suck Arnold-Chiari malformation Plagiocephaly Amblyopia Left ventricular hypertrophy Clumsiness Primary amenorrhea Low posterior hairline Ventricular hypertrophy Amenorrhea Wide intermamillary distance Webbed neck Sparse hair Clinodactyly of the 5th toe Low-set, posteriorly rotated ears Posteriorly rotated ears Rod-cone dystrophy Pectus excavatum Cardiomyopathy Short neck Prominent U wave Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Periodic hyperkalemic paralysis Short mandibular rami Periodic hypokalemic paresis Short metacarpal Hypoplasia of the maxilla Elevated alkaline phosphatase Short nose Esotropia Prominent nose Highly arched eyebrow Everted lower lip vermilion Downturned corners of mouth Synophrys Microtia Wide mouth Coarse facial features Retrognathia Brachycephaly Encephalopathy Cortical irregularity Febrile seizures Periosteal thickening of long tubular bones Hyperesthesia Cortical thickening of long bone diaphyses Anasarca Thoracic dysplasia Thrombocytosis Restlessness Tibial bowing Increased antibody level in blood Bowing of the legs Disproportionate short-limb short stature Hydrops fetalis Respiratory insufficiency Focal-onset seizure Hip dysplasia Delayed eruption of teeth Short attention span Inability to walk Tachycardia Blepharophimosis Paralysis Joint laxity Delayed skeletal maturation Arrhythmia Depressivity Muscle weakness Abnormality of lower lip Paroxysmal bursts of laughter Hemifacial hypoplasia Macrodontia Polyphagia Epileptic encephalopathy Cupped ear Self-injurious behavior Language impairment Focal impaired awareness seizure Tented upper lip vermilion Infantile muscular hypotonia Widely spaced teeth Sandal gap Absence seizures Finger clinodactyly Low anterior hairline Stereotypy Hypoplasia of penis Pterygium Failure to thrive in infancy Sirenomelia Ovarian neoplasm Abnormality of the wrist Abnormality of finger Spinal cord compression Capillary hemangioma Papilledema Exostoses Lipoma Neoplasm of the lung Abnormal lung lobation Spinal canal stenosis Pulmonary embolism Generalized hyperpigmentation Hamartoma Meningioma Multiple lipomas Pericardial effusion Disproportionate tall stature Hallux valgus Decreased muscle mass Diabetes insipidus Melanocytic nevus Chorioretinal coloboma Lipodystrophy Cachexia Reduced number of teeth Palmoplantar hyperkeratosis Goiter Macroorchidism Deep venous thrombosis Hemangioma Thrombophlebitis Macrodactyly Portal vein thrombosis Metatarsus valgus Epidermal nevus Testicular neoplasm Upper limb asymmetry Keloids Nephrogenic diabetes insipidus Epibulbar dermoid Venous malformation Neoplasm of the central nervous system Generalized hyperkeratosis Vascular skin abnormality Varicose veins Asymmetric growth Enlarged polycystic ovaries Thick nasal alae Visceral angiomatosis Long penis Thin bony cortex Myofibrillar myopathy Buphthalmos Arterial thrombosis Anisocytosis Hemihypertrophy Abnormality of the neck Lower limb asymmetry Abnormality of the metacarpal bones Venous thrombosis Patent foramen ovale Restrictive cardiomyopathy Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Optic disc hypoplasia Multiple lentigines Schwannoma Synovitis Shield chest Atrial flutter Pectus excavatum of inferior sternum Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Neuroblastoma Abnormality of the vertebral column Male infertility Cystic hygroma Abnormality of color vision Abnormality of the coagulation cascade Radial deviation of finger Cubitus valgus Loose anagen hair Gonadal neoplasm Abnormality of dental enamel Sudden cardiac death Abnormality of the nail Sinusitis Abnormality of retinal pigmentation Subcutaneous nodule Heterotopia Abnormal form of the vertebral bodies Epidermal acanthosis High myopia Overgrowth Decreased antibody level in blood Round face Nevus Gliosis Polymicrogyria Reduced factor XIII activity Long face Confusion Craniosynostosis Joint stiffness Skeletal dysplasia Hyperkeratosis Glaucoma Visual loss Kyphosis Anteverted nares Postductal coarctation of the aorta Preductal coarctation of the aorta Nasogastric tube feeding Cutaneous T-cell lymphoma


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