Fever, and Conductive hearing impairment

Diseases related with Fever and Conductive hearing impairment

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

Top matches:

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

Medium match GIANT CELL ARTERITIS

Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

Fibrodysplasia ossificans progressiva (FOP) is a severely disabling heritable disorder of connective tissue characterized by congenital malformations of the great toes and progressive heterotopic ossification that forms qualitatively normal bone in characteristic extraskeletal sites.

FIBRODYSPLASIA OSSIFICANS PROGRESSIVA Is also known as stone man syndrome|fop|myositis ossificans progressiva

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FIBRODYSPLASIA OSSIFICANS PROGRESSIVA

Other less relevant matches:

Glycogen storage disease II, an autosomal recessive disorder, is the prototypic lysosomal storage disease. In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features; in the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture Matsuishi et al. (1984).

GLYCOGEN STORAGE DISEASE II; GSD2 Is also known as amd|cardiomegalia glycogenica diffusa|alpha-1,4-glucosidase deficiency|gaa deficiency|acid maltase deficiency|pompe disease|glycogenosis, generalized, cardiac form|acid alpha-glucosidase deficiency|gsd ii

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE II; GSD2

ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1 Is also known as eec|eec syndrome 1

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about ECTRODACTYLY, ECTODERMAL DYSPLASIA, AND CLEFT LIP/PALATE SYNDROME 1; EEC1

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9 Is also known as neurosensory nonsyndromic recessive deafness 9|nsrd9

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Fever
  • Poor speech


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9

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

Medium match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

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

Top 5 symptoms//phenotypes associated to Fever and Conductive hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Conductive hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Ptosis Cleft palate Growth delay Scoliosis Short stature Sensorineural hearing impairment Anemia Hypertelorism Inguinal hernia Posteriorly rotated ears Cleft upper lip Alopecia Clinodactyly Hernia Abnormal heart morphology Aspiration High palate Microcephaly Cryptorchidism Low-set ears Respiratory insufficiency Abnormal facial shape Headache Epicanthus Renal agenesis Vesicoureteral reflux Toe syndactyly Micropenis Syndactyly Feeding difficulties Intellectual disability, severe Flexion contracture Cognitive impairment Muscular hypotonia Muscle weakness Micrognathia Pneumonia Nystagmus Renal dysplasia Abnormality of the foot Telecanthus Atrial septal defect Abnormality of the skeletal system Ventricular septal defect Hydrocephalus Blepharophimosis

Rare Symptoms - Less than 30% cases

Recurrent infections Immunodeficiency Polydactyly Recurrent respiratory infections Hyperkeratosis Aspiration pneumonia Nasal speech Cardiomegaly Peripheral demyelination Hypertrophic cardiomyopathy Hypoglycemia Gastroesophageal reflux Dyspnea Dilatation Cleft lip Basal ganglia calcification Finger clinodactyly Retrognathia Widely spaced teeth Hypothyroidism Hallux valgus Hamartoma Hyperactivity Patent ductus arteriosus Splenomegaly Hypospadias Thrombocytopenia Behavioral abnormality Abnormality of the pinna Hepatomegaly Gait disturbance Cardiomyopathy Psoriasiform dermatitis Prominent nasal bridge Small for gestational age Perimembranous ventricular septal defect Meningocele Hypotrichosis Severe short stature Delayed skeletal maturation Anteverted nares Wide nasal bridge Brachydactyly Hypoplastic nipples Frontal bossing Highly arched eyebrow Absent speech Primary amenorrhea Pulmonic stenosis Low-set, posteriorly rotated ears Apnea Camptodactyly Ectrodactyly Abnormality of the kidney Microdontia Anal atresia Low posterior hairline Oral cleft Pulmonary hypoplasia Broad nasal tip Short neck Growth hormone deficiency Choanal atresia Delayed speech and language development Aggressive behavior Elbow flexion contracture Abnormality of the urinary system Preaxial polydactyly Hand polydactyly Hypertrichosis Blue sclerae Proptosis Amenorrhea Respiratory tract infection Ataxia Proximal muscle weakness Long face Downturned corners of mouth Neoplasm Generalized muscle weakness Recurrent pharyngitis Hyperhidrosis Open mouth Myopathic facies Elevated erythrocyte sedimentation rate Peripheral neuropathy Areflexia Optic atrophy Epistaxis Fatigue Edema Vertigo Depressivity Stroke Arthritis Difficulty walking Myalgia Brachycephaly Arrhythmia Clinodactyly of the 5th finger Skeletal muscle atrophy Glaucoma Myopathy Ventriculomegaly Kyphosis Intellectual disability, mild Congestive heart failure Respiratory failure Pain Abnormality of the umbilicus Narrow palpebral fissure Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Multicystic kidney dysplasia Right aortic arch with mirror image branching Hyperreflexia Abnormality of the hand Peters anomaly Congenital conductive hearing impairment Hand oligodactyly Phocomelia Purpura Supernumerary ribs Perineal fistula Vascular ring Gastroparesis Absent hand Central nervous system degeneration Curly eyelashes Short sternum Diabetes mellitus Panhypopituitarism Flat face Recurrent hypoglycemia Bilateral sensorineural hearing impairment Mitral valve prolapse Overgrowth Hypoplastic radial head Decreased testicular size Wide intermamillary distance Full cheeks Recurrent fractures Hallucinations Polyneuropathy Ichthyosis Hypogonadism Lymphadenopathy Delayed puberty Malabsorption Spina bifida Pectus carinatum Retinopathy Abnormal cardiac septum morphology Hypocalcemia Hepatosplenomegaly Pes planus Volvulus Arteria lusoria Psychotic episodes Aplasia of the thymus Obsessive-compulsive behavior Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Abnormality of the ear Inflammation of the large intestine Hypoplasia of the brainstem Acne Unilateral renal agenesis Apathy Vitiligo Arnold-Chiari malformation Schizophrenia Hypertropia Left-to-right shunt Projectile vomiting Rheumatoid arthritis Duplication of internal organs Dysdiadochokinesis Reduced renal corticomedullary differentiation Cholelithiasis Malrotation of colon Bipolar affective disorder Hypoparathyroidism Otitis media with effusion Esophageal stenosis Conotruncal defect Hypoplastic male external genitalia Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Paranoia Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Holoprosencephaly Hearing abnormality Graves disease Aplasia of the uterus Seborrheic dermatitis Juvenile rheumatoid arthritis Pulmonary artery atresia Abnormality of the endocrine system Bicuspid aortic valve Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Delusions Interrupted aortic arch Telangiectasia Epidermal acanthosis Relative macrocephaly High myopia Renal hypoplasia Abnormality of the dentition Recurrent urinary tract infections Long eyelashes Low anterior hairline Vomiting Talipes equinovarus Increased body weight Spontaneous abortion Macrocephaly Torticollis Intrauterine growth retardation Myopia Long philtrum Hypoplasia of the radius Hypertension Depressed nasal bridge Strabismus Seborrheic keratosis Retroperitoneal fibrosis Incoordination Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Snoring Episcleritis Hypertonia Prominent forehead Facial telangiectasia Hirsutism Congenital diaphragmatic hernia Otitis media Webbed neck Sepsis Triangular face Renal cyst Microcornea Delayed eruption of teeth Sleep disturbance Tapered finger Single transverse palmar crease Small hand High, narrow palate Thick eyebrow Narrow mouth Thin vermilion border Astigmatism Micromelia Synophrys Hip dislocation Craniosynostosis Autistic behavior Pallor Postnatal growth retardation Proteinuria Thin upper lip vermilion Mandibular prognathia Autism Panniculitis Psychosis Hypertriglyceridemia Lipodystrophy Limited elbow extension Abnormality of digit Weak cry Dislocated radial head Microcytic anemia Increased antibody level in blood Oligodactyly Poor appetite Leukocytosis Hyperglycemia Hiatus hernia Esophagitis Stridor Sleep apnea Opisthotonus Azoospermia Plagiocephaly Osteolysis Hypoplastic labia majora Type I diabetes mellitus Hypergonadotropic hypogonadism Gynecomastia Hyperpigmentation of the skin Gingival overgrowth Abnormality of the gastrointestinal tract Optic nerve coloboma Bronchiectasis Thick upper lip vermilion Lipoatrophy Scleroderma Generalized lymphadenopathy Varicose veins Corneal arcus Deep philtrum Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Nasal obstruction Decreased serum testosterone level Communicating hydrocephalus Short metatarsal Polycythemia Abnormal eyebrow morphology Enlarged kidney Pyloric stenosis Exocrine pancreatic insufficiency Self-injurious behavior Proximal placement of thumb Clubbing Tricuspid regurgitation Cutis marmorata Short middle phalanx of finger 2-3 toe syndactyly Severe sensorineural hearing impairment Episodic fever Ectopic kidney Myelofibrosis Apraxia Tetralogy of Fallot Soft tissue sarcoma Dysphagia Aplasia/Hypoplasia of the phalanges of the hallux Abnormality of the first metatarsal bone Progressive cervical vertebral spine fusion Ectopic ossification in tendon tissue Ectopic ossification in ligament tissue Ectopic ossification in muscle tissue Small cervical vertebral bodies Ectopic ossification Fibrosarcoma Osteochondroma Synostosis of joints Low-grade fever Elevated serum creatine phosphokinase Overbite Stiff neck Broad femoral neck Short 1st metacarpal Short hallux Myositis Broad neck Exostoses Ankylosis Alopecia of scalp Spinal rigidity Metaphyseal widening Back pain Abnormality of metabolism/homeostasis Acidosis Abnormal vertebral morphology Respiratory insufficiency due to muscle weakness Increased muscle fatiguability Diaphragmatic paralysis Pelvic girdle muscle weakness Stroke-like episode Wolff-Parkinson-White syndrome Progressive proximal muscle weakness Dilatation of the cerebral artery Difficulty running Exertional dyspnea Dysphasia Emphysema Atrioventricular block Delayed gross motor development Atherosclerosis Osteopenia Macular degeneration Scapular winging EMG abnormality Progressive muscle weakness Ventricular hypertrophy Type II diabetes mellitus Abnormality of the cardiovascular system Urinary incontinence Macroglossia Limb muscle weakness Muscular dystrophy Paralysis EEG abnormality Sarcoma Short thumb Shortened PR interval Ankle contracture Cough Joint stiffness Arthralgia Weight loss Abdominal pain Visual loss Renal insufficiency Blindness Visual impairment Multiple skeletal anomalies Restrictive deficit on pulmonary function testing Malignant hyperthermia Gowers sign Hepatic failure Congenital contracture Tented upper lip vermilion Short palpebral fissure Narrow forehead Talipes Arthrogryposis multiplex congenita Facial palsy Kyphoscoliosis Hyporeflexia Pectus excavatum Midface retrusion Downslanted palpebral fissures Motor delay Paresthesia Hematuria Subcutaneous nodule Abnormal thrombocyte morphology Myocardial infarction Limitation of joint mobility Jaw claudication Retinal arteritis Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Arteritis Glossitis Gastrointestinal infarctions Impaired mastication Abdominal aortic aneurysm Amaurosis fugax Mediastinal lymphadenopathy Abnormality of the pleura Arterial thrombosis Sudden cardiac death Cerebral ischemia Aortic dissection Gangrene Pericarditis Visual field defect Diabetes insipidus Ophthalmoparesis Vasculitis Meningitis Skin ulcer Diplopia Anorexia Optic disc pallor Abdominal wall muscle weakness Abnormal CNS myelination Specific learning disability Abnormality of neuronal migration Hamartoma of tongue Lobulated tongue Abnormal oral frenulum morphology Accessory oral frenulum Preaxial foot polydactyly Short femur Foot polydactyly Biparietal narrowing Partial agenesis of the corpus callosum Tibial bowing Abnormal retinal morphology Molar tooth sign on MRI Preaxial hand polydactyly Mesoaxial polydactyly Bilateral cryptorchidism Radial deviation of finger Trigonocephaly Polycystic kidney dysplasia Renal hypoplasia/aplasia Tachypnea Aplasia/Hypoplasia of the corpus callosum Oculomotor apraxia Cerebellar vermis hypoplasia Dandy-Walker malformation Esotropia Abnormal cerebellum morphology Postaxial polydactyly Tongue nodules Episodic tachypnea Abnormality of the nervous system Abnormality of cardiovascular system morphology Underdeveloped nasal alae Chorea Bifid uvula Hemolytic anemia Bulbous nose Dysmetria Congenital cataract Autoimmunity Mental deterioration Anxiety Umbilical hernia Dementia Obesity Cerebellar atrophy Hypothalamic hamartoma Hypoplasia of the corpus callosum Cataract Absence of acoustic reflex Absent brainstem auditory responses Severe hearing impairment Poor speech Central Y-shaped metacarpal Midline notch of upper alveolar ridge Y-shaped metacarpals Occipital meningocele Mesoaxial hand polydactyly Hypoplasia of olfactory tract Bulimia Feeding difficulties in infancy Agenesis of corpus callosum Firm muscles Omphalocele Absent septum pellucidum Hydroureter Epiphora Keratitis Abnormality of the genitourinary system Oligodontia Sparse eyelashes Conjunctivitis Hypogonadotrophic hypogonadism Sparse and thin eyebrow Hypohidrosis Abnormality of the genital system Thin skin Xerostomia Split hand Sparse scalp hair Oligohydramnios Nail dysplasia Ectodermal dysplasia Hypodontia Hypoplasia of the maxilla Carious teeth Short philtrum Microtia Hydronephrosis Photophobia Malar flattening Hypopituitarism Blepharitis Tremor Central diabetes insipidus Slow-growing scalp hair Absence of Stensen duct Transverse vaginal septum Abnormal salivary gland morphology Urethral atresia Dacryocystitis Semilobar holoprosencephaly Ureterocele Nail pits Abnormality of the nasopharynx Duplicated collecting system Nasolacrimal duct obstruction Selective tooth agenesis Bladder diverticulum Split foot Recurrent corneal erosions Hypoplasia of the thymus Sparse pubic hair Rectovaginal fistula Dysuria Heat intolerance Sparse axillary hair Generalized hypopigmentation Anodontia Fair hair Blue irides Depressed nasal tip Bilateral cleft lip Dysplastic tricuspid valve


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