Hearing impairment, and Mitral valve prolapse

Diseases related with Hearing impairment and Mitral valve prolapse

In the following list you will find some of the most common rare diseases related to Hearing impairment and Mitral valve prolapse that can help you solving undiagnosed cases.

Top matches:

Related symptoms:

  • Intellectual disability
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract
  • Myopia


SOURCES: ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 1

Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Brittle cornea syndrome (BCS) is characterized by blue sclerae, corneal rupture after minor trauma, keratoconus or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints (Al-Hussain et al., 2004). It is classified as a form of Ehlers-Danlos syndrome (Malfait et al., 2017). Genetic Heterogeneity of Brittle Cornea SyndromeBrittle cornea syndrome-2 (BCS2 ) is caused by mutation in the PRDM5 gene (OMIM ) on chromosome 4q27.

BRITTLE CORNEA SYNDROME 1; BCS1 Is also known as ehlers-danlos syndrome, type vib, formerly|dysgenesis mesodermalis corneae et sclerae|corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility|eds6b, formerly|fragilitas oculi with joint hyperextensibility

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Epicanthus
  • Myopia
  • Macrocephaly


SOURCES: OMIM MENDELIAN

More info about BRITTLE CORNEA SYNDROME 1; BCS1

Other less relevant matches:

Thauvin-Robinet-Faivre syndrome is an autosomal recessive disorder characterized by generalized overgrowth, mainly of height, and mildly delayed psychomotor development with mild or severe learning difficulties. More variable features may include congenital heart defects, kidney abnormalities, and skeletal defects. Patients may have an increased risk for Wilms tumor (summary by Akawi et al., 2016).

TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME Is also known as thauvin-robinet-faivre syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism
  • Neoplasm


SOURCES: ORPHANET OMIM MENDELIAN

More info about TALL STATURE-INTELLECTUAL DISABILITY-RENAL ANOMALIES SYNDROME

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

Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a neurodegenerative disorder characterised by early-onset cerebellar ataxia with spasticity, a pyramidal syndrome and peripheral neuropathy.

AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY Is also known as autosomal recessive spastic ataxia type 6|charlevoix-saguenay spastic ataxia|autosomal recessive spastic ataxia of charlevoix-saguenay|spax6|spastic ataxia 6, autosomal recessive|arsacs

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY

Spondylo-ocular syndrome is a very rare association of spinal and ocular manifestations that is characterized by dense cataracts, and retinal detachment along with generalized osteoporosis and platyspondyly. Mild craniofacial dysphormism has been reported including short neck, large head and prominent eyebrows.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPONDYLO-OCULAR SYNDROME

Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).Drachman (1975) gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' (Drachman, 1968). Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA DeletionsSee also PEOB2 (OMIM ), caused by mutation in the RNASEH1 gene (OMIM ) on chromosome 2p25; PEOB3 (OMIM ), caused by mutation in the TK2 gene (OMIM ) on chromosome 16q21; PEOB4 (OMIM ), caused by mutation in the DGUOK gene (OMIM ) on chromosome 2p13; and PEOB5 (OMIM ), caused by mutation in the TOP3A gene (OMIM ) on chromosome 17p11.

AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as arpeo|progressive external ophthalmoplegia, autosomal recessive 1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Cardiospondylocarpofacial syndrome is characterized by mitral insufficiency, conductive deafness, short stature, and skeletal anomalies (bony fusion involving the cervical vertebrae, the ossicles, and the carpal and tarsal bones). It has been described in three members of one family. The mode of inheritance is likely to be autosomal dominant with incomplete penetrance.

CARDIOSPONDYLOCARPOFACIAL SYNDROME Is also known as forney-robinson-pascoe syndrome|mitral regurgitation-deafness-skeletal anomalies syndrome|forney syndrome|mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CARDIOSPONDYLOCARPOFACIAL SYNDROME

6q25 microdeletion syndrome is a recently described syndrome characterized by developmental delay, facial dysmorphism and hearing loss.

6Q25 MICRODELETION SYNDROME Is also known as del(6)(q25)|monosomy 6q25

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 6Q25 MICRODELETION SYNDROME

Top 5 symptoms//phenotypes associated to Hearing impairment and Mitral valve prolapse

Symptoms // Phenotype % cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Long philtrum Uncommon - Between 30% and 50% cases
Retinal detachment Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Mitral valve prolapse. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Cleft palate Scoliosis Pes planus Cataract Visual loss Hypertelorism Epicanthus Abnormality of the dentition Hernia Joint laxity Muscle weakness Hyperextensible skin Increased susceptibility to fractures Ventricular septal defect Pectus carinatum Generalized hypotonia Short stature Seizures Joint hypermobility Abnormality of the skeletal system Joint hyperflexibility Anteverted nares Glaucoma

Rare Symptoms - Less than 30% cases

High palate Osteoarthritis Visual impairment Nystagmus Short nose Downslanted palpebral fissures Strabismus Abnormal heart morphology Spasticity Abnormality of epiphysis morphology Global developmental delay Decreased corneal thickness Osteoporosis Keratoglobus Peripheral neuropathy Intellectual disability, mild Low-set ears Inguinal hernia Posteriorly rotated ears Platyspondyly Arthralgia Ataxia Mitral regurgitation Growth delay Failure to thrive Wide nasal bridge Cone-shaped epiphysis Upslanted palpebral fissure Abnormality of the eye Neonatal hypotonia Conductive hearing impairment Full cheeks Depressivity Atrial septal defect Malar flattening High myopia Pes cavus Long fingers Midface retrusion Unsteady gait Distal muscle weakness Abnormal cardiac septum morphology Macrocephaly Frontal bossing Distal sensory impairment Micrognathia Hyperlordosis Cerebellar atrophy Gait ataxia Talipes Lumbar hyperlordosis Keratoconus Dysarthria Brachydactyly Arachnodactyly Soft skin Blue sclerae Megalocornea Hallux valgus Abnormal vitreous humor morphology Dysphagia Pectus excavatum Congenital hip dislocation Peripheral axonal neuropathy Mildly elevated creatine phosphokinase Generalized amyotrophy Abnormal retinal morphology Abnormality of the periventricular white matter Mitochondrial myopathy Gastrointestinal dysmotility Progressive external ophthalmoplegia Increased CSF protein Hand muscle weakness Parkinsonism with favorable response to dopaminergic medication Progressive proximal muscle weakness Dyschromatopsia Action tremor Shuffling gait Aplasia/Hypoplasia of the lens Cogwheel rigidity Hemianopia Stroke-like episode Optic atrophy Generalized muscle weakness Increased variability in muscle fiber diameter Hypogonadism Abnormality of the cerebral white matter Dilated cardiomyopathy Stroke Facial palsy Anxiety Proximal muscle weakness Rigidity Ptosis Elevated serum creatine phosphokinase Left hemiplegia Cognitive impairment Hyporeflexia Areflexia Cerebral atrophy Myopathy Cardiomyopathy Fatigue Tremor Positive Romberg sign Ophthalmoplegia Sensory axonal neuropathy External ophthalmoplegia Mask-like facies Steppage gait Emotional lability Postural tremor Ophthalmoparesis Dysphonia EMG: myopathic abnormalities Ragged-red muscle fibers Respiratory insufficiency due to muscle weakness Limb muscle weakness Scapular winging Dysplastic aortic valve Exercise intolerance Muscle stiffness Limb ataxia Bradykinesia Parkinsonism Paresthesia Confusion Muscle fiber atrophy Postnatal growth retardation Increased muscle fatiguability Patent ductus arteriosus Camptodactyly of finger Wide mouth Abnormality of the pinna Low-set, posteriorly rotated ears Thin upper lip vermilion Agenesis of corpus callosum Clinodactyly of the 5th finger Abnormality of cardiovascular system morphology Facial asymmetry Hydrocephalus Respiratory distress Ventriculomegaly Intrauterine growth retardation Muscular hypotonia Microcephaly Failure of eruption of permanent teeth Dolichocephaly Smooth philtrum Pseudoepiphyses Tricuspid regurgitation Secundum atrial septal defect Ventricular extrasystoles Shallow orbits Anteriorly placed anus External genital hypoplasia Thoracic hypoplasia Mild short stature Rocker bottom foot Small hand Patent foramen ovale Redundant skin Abnormality of vision Plagiocephaly Short palpebral fissure Interphalangeal joint contracture of finger Triangular face Synostosis of carpals/tarsals Delayed ossification of carpal bones Weak voice Impaired distal proprioception Delayed speech and language development Feeding difficulties Homonymous hemianopia Sensory ataxic neuropathy Progressive ophthalmoplegia Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Stooped posture Severe short stature Optic neuritis Impaired distal vibration sensation Cytochrome C oxidase-negative muscle fibers Muscle fiber necrosis Abnormality of the cerebrospinal fluid Abnormal nerve conduction velocity Neuritis Delayed skeletal maturation Gastroesophageal reflux Fused cervical vertebrae Congenital sensorineural hearing impairment Rib fusion Misalignment of teeth Severe failure to thrive Carpal synostosis Synostosis of carpal bones Freckling Tarsal synostosis Horseshoe kidney Telecanthus Abnormal form of the vertebral bodies Recurrent otitis media Decreased testicular size Vesicoureteral reflux Short foot High, narrow palate Short palm Long toe Abnormality of the intervertebral disk Gaze-evoked horizontal nystagmus Unilateral cryptorchidism Enlarged kidney Bifid ureter Renal malrotation Long hallux Retinal coloboma Varicose veins Long foot Large for gestational age Edema Bowing of the legs Large hands Nephroblastoma Spina bifida occulta Spina bifida Tall stature Renal dysplasia Gait disturbance Umbilical hernia Intestinal malrotation Corneal dystrophy Abnormality of hair pigmentation Flat cornea Shoulder dislocation Corneal scarring Corneal erosion Sclerocornea Cutis laxa Myalgia Hip dysplasia Microcornea Recurrent fractures Bruising susceptibility Pulmonic stenosis Hip dislocation Camptodactyly Overgrowth Round face Hyperreflexia Arthropathy Reduced bone mineral density Scarring Abnormal metacarpal morphology Pierre-Robin sequence Exostoses Glossoptosis Spondyloepiphyseal dysplasia Atypical scarring of skin Bifid uvula Retinopathy Depressed nasal bridge Abnormality of vertebral epiphysis morphology Hypoplasia of the maxilla Skeletal dysplasia Proptosis Disproportionate tall stature Spondylolisthesis Macroglossia Macrotia Renal cyst Neutropenia Thick vermilion border Astigmatism Coloboma Protruding ear Deeply set eye Talipes equinovarus Buphthalmos Neoplasm Molluscoid pseudotumors Palmoplantar cutis laxa Talipes valgus Red hair Hyperextensibility of the finger joints Dentinogenesis imperfecta Motor delay Skeletal muscle atrophy Shield chest Hypermyelinated retinal nerve fibers Microphthalmia Kyphosis Short neck Swan neck-like deformities of the fingers Progressive truncal ataxia Abnormality of the cerebellar peduncle Abnormal motor evoked potentials Congenital cataract Abnormality of the pons Parietal cortical atrophy Loss of Purkinje cells in the cerebellar vermis Impaired tactile sensation Vitamin E deficiency Decreased sensory nerve conduction velocity Scanning speech Osteopenia Thin vermilion border Spastic ataxia Thoracic kyphosis Thickened helices Disproportionate short-trunk short stature Vertebral compression fractures Facial hypotonia Abnormality of the antihelix Abnormal eyebrow morphology Posterior subcapsular cataract Iris hypopigmentation Webbed neck Subcapsular cataract Preauricular pit Hemiplegia Accelerated skeletal maturation Amblyopia Decreased body weight Low posterior hairline Decreased number of large peripheral myelinated nerve fibers Upper motor neuron dysfunction Hypoplasia of the corpus callosum Paraplegia Urinary incontinence Progressive cerebellar ataxia Abnormal cerebellum morphology Distal amyotrophy Falls Dysmetria Abnormality of the foot Intention tremor Spastic paraplegia Abnormal pyramidal sign EEG abnormality Difficulty walking Myoclonus Babinski sign Behavioral abnormality Cerebellar vermis hypoplasia Lower limb spasticity Absent Achilles reflex Progressive spasticity Demyelinating peripheral neuropathy Impaired smooth pursuit Progressive gait ataxia Arachnoid cyst Impaired vibration sensation in the lower limbs Cerebellar vermis atrophy Progressive spastic paraplegia Urinary urgency Sensorimotor neuropathy Impotence Decreased motor nerve conduction velocity Hammertoe Impaired vibratory sensation Decreased nerve conduction velocity Absence seizures Foot dorsiflexor weakness Abnormality of nervous system morphology


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