Edema, and Conductive hearing impairment

Diseases related with Edema and Conductive hearing impairment

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

Top matches:

DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by de Kok et al., 1995 and Song et al., 2010).See also choroideremia, deafness, and mental retardation (OMIM ), a contiguous gene deletion syndrome involving the POU3F4 and CHM (OMIM ) genes on Xq21; isolated choroideremia (OMIM ) is caused by mutation in the CHM gene.

DEAFNESS, X-LINKED 2; DFNX2 Is also known as deafness 3, conductive, with stapes fixation|sensorineural deafness, profound, with or without a conductive component, associated with a unique developmental abnormality of the ear|perilymphatic gusher-deafness syndrome|deafness, mixed, with perilymphatic

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Sensorineural hearing impairment
  • Edema


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, X-LINKED 2; DFNX2

Brittle cornea syndrome is a form of Ehlers-Danlos syndrome characterized by a severe ocular manifestations due to extreme corneal thinning and fragility with rupture in the absence of significant trauma, and progression to blindness. Extraocular manifestations comprise deafness, developmental hip dysplasia, and joint hypermobility.

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRITTLE CORNEA SYNDROME

Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Other less relevant matches:

Related symptoms:

  • Hearing impairment
  • Conductive hearing impairment


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL DOMINANT 68; DFNA68

The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

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

Branchioskeletogenital syndrome is a rare multiple congenital anomalies/dysmorphic syndrome characterized by moderate intellectual disability, distinctive craniofacial features (including brachycephaly, facial asymmetry, marked hypertelorism, blepharochalasis, proptosis, a broad nose with concave nasal ridge and bulbous nasal tip, midface hypoplasia, bifid uvula or partial cleft palate, and prognathism), progressive dental anomalies (dentigerous cysts, radicular dentin dysplasia and early tooth loss), vertebral fusions (particularly of C2-C3), and hypospadias. Hearing loss is an additional observed feature.

BRANCHIOSKELETOGENITAL SYNDROME Is also known as hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss|elsahy-waters syndrome|brachioskeletogenital syndrome|bsg syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BRANCHIOSKELETOGENITAL SYNDROME

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

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Umbilical hernia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Hypospadias Craniosynostosis Ptosis Cryptorchidism Glaucoma Hypertelorism Highly arched eyebrow Megalocornea Depressivity Bifid scrotum Intellectual disability, moderate Penoscrotal hypospadias Micropenis Myalgia Abnormal facial shape Telecanthus Visual loss Abnormality of the dentition Mixed hearing impairment Bilateral conductive hearing impairment Cleft palate High palate Hernia Pectus excavatum Sensorineural hearing impairment Wide nasal bridge Depressed nasal bridge Anteverted nares Short neck Malar flattening Anorexia Syndactyly Epistaxis Recurrent infections Downslanted palpebral fissures Sudden cardiac death Optic disc pallor Strabismus Midface retrusion Posteriorly rotated ears Brachycephaly Hematuria Proptosis Hepatic failure Mandibular prognathia High forehead Thin upper lip vermilion Cataract Diplopia Microcephaly Skin ulcer Ophthalmoparesis Diabetes insipidus Visual field defect Meningitis Elevated erythrocyte sedimentation rate Pericarditis Gangrene Aortic dissection Cerebral ischemia Arterial thrombosis Abnormal thrombocyte morphology Recurrent pharyngitis Seizures Mediastinal lymphadenopathy Amaurosis fugax Abdominal aortic aneurysm Impaired mastication Gastrointestinal infarctions Glossitis Arteritis Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Retinal arteritis Jaw claudication Vasculitis Abnormality of the pleura Thin vermilion border Low-set, posteriorly rotated ears Submucous cleft soft palate Concave nasal ridge Cleft soft palate Absent nipple Prominent nasal tip Abnormality of the cervical spine Bladder exstrophy Ureteral stenosis Thoracolumbar kyphoscoliosis Multiple impacted teeth Phthisis bulbi Periorbital wrinkles Attached earlobe Eyelid coloboma Absent external genitalia Dentinogenesis imperfecta limited to primary teeth Abnormality of the sella turcica Blepharochalasis Rootless teeth Unilateral cleft palate Abnormality of the vertebral spinous processes Abnormality of dentin Abnormality of the shape of the midface Lagopthalmos Upper limb peromelia Advanced pneumatization of the mastoid process Large earlobe Thoracolumbar scoliosis Coloboma Delayed eruption of teeth Short philtrum Pectus carinatum Broad forehead Carious teeth Synophrys Facial asymmetry Paresthesia Flat face Thick eyebrow Wide nose Downturned corners of mouth Thick vermilion border Hypoplasia of the maxilla Premature loss of teeth Broad nasal tip Bifid uvula Dental malocclusion Wide intermamillary distance Narrow forehead Pointed chin Cutaneous syndactyly Keratitis Abnormality of the vertebral column Thickened calvaria Anteriorly placed anus Submucous cleft hard palate Vertigo Peripheral neuropathy Cough Shoulder dislocation Congenital hip dislocation Cutis laxa Corneal dystrophy Hyperextensible skin Increased susceptibility to fractures Hallux valgus Keratoconus Soft skin Sclerocornea Corneal erosion Corneal scarring Flat cornea Blue sclerae Keratoglobus Decreased corneal thickness Abnormality of hair pigmentation Short stature Generalized hypotonia Growth delay Micrognathia Low-set ears Cognitive impairment Epicanthus Ventricular septal defect Abnormality of epiphysis morphology High myopia Clinodactyly Pes planus Dilatation Abnormality of the ear Progressive sensorineural hearing impairment Severe hearing impairment Choroideremia Stapes ankylosis Dilatated internal auditory canal Myopia Gait disturbance Inguinal hernia Osteoporosis Neonatal hypotonia Mitral valve prolapse Camptodactyly Hip dislocation Pulmonic stenosis Joint hyperflexibility Arachnodactyly Joint hypermobility Bruising susceptibility Retinal detachment Recurrent fractures Microcornea Hip dysplasia Congestive heart failure Patent ductus arteriosus Stroke Optic atrophy Bilateral cleft lip and palate Skin dimples Epicanthus inversus Caudal appendage Urethral valve Prominent coccyx Ataxia Nystagmus Muscle weakness Visual impairment Fever Fatigue Short 5th finger Blindness Renal insufficiency Headache Arrhythmia Alopecia Hyperhidrosis Abdominal pain Weight loss Arthralgia Arthritis Joint stiffness Diastasis recti Bilateral cleft lip Abnormal heart morphology Congenital diaphragmatic hernia Muscular hypotonia of the trunk Cleft lip Abnormality of the kidney Abnormality of the pinna Postnatal growth retardation Blepharophimosis Talipes Cleft upper lip Oral cleft Small hand Renal agenesis Omphalocele Broad foot Wormian bones Spontaneous abortion Scrotal hypoplasia Abnormality of the genitourinary system Preaxial polydactyly Radioulnar synostosis Epiphyseal dysplasia Elbow dislocation Supernumerary nipple Facial cleft Shawl scrotum Irregular vertebral endplates Amelia involving the lower limbs


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