Myopathy, and Conductive hearing impairment

Diseases related with Myopathy and Conductive hearing impairment

In the following list you will find some of the most common rare diseases related to Myopathy 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

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Multiple pterygium syndromes comprise a group of multiple congenital anomaly disorders characterized by webbing (pterygia) of the neck, elbows, and/or knees and joint contractures (arthrogryposis) (Morgan et al., 2006). The multiple pterygium syndromes are phenotypically and genetically heterogeneous but are traditionally divided into prenatally lethal (OMIM ) and nonlethal (Escobar) types.

MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS Is also known as escobar syndrome|multiple pterygium syndrome|pterygium syndrome|multiple pterygium syndrome, nonlethal type|pterygium colli syndrome|pterygium universale

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS

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

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by longitudinal striations of the metaphyses of the long bones, sclerosis of the craniofacial bones, macrocephaly, cleft palate and hearing loss.

OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME Is also known as hyperostosis generalisata with striations|robinow-unger syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS SYNDROME

1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.

1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 1P36 DELETION SYNDROME

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutations in the POLG gene are associated with more complicated phenotypes than those forms caused by mutations in the ANT1 or C10ORF2 genes (Lamantea et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2 Is also known as progressive external ophthalmoplegia, autosomal dominant 2

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis
  • Dementia


SOURCES: OMIM MESH MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 2; PEOA2

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5 Is also known as progressive external ophthalmoplegia, autosomal dominant 5

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Ptosis
  • Dysarthria
  • Fatigue


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5

Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A (OMIM ).

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Visual impairment
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about USHER SYNDROME, TYPE IIIB; USH3B

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

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Ptosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Cognitive impairment Low-set ears Intellectual disability Abnormal facial shape Short stature Micrognathia Downslanted palpebral fissures Hypertelorism Global developmental delay Hypothyroidism Brachycephaly Pectus excavatum Kyphosis Gastroesophageal reflux Dysphagia High palate Muscle weakness Cryptorchidism Cleft palate Flexion contracture Epicanthus Skeletal muscle atrophy Syndactyly Hydrocephalus Muscular hypotonia Depressed nasal bridge Wide nasal bridge Hypoplasia of the corpus callosum Ventricular septal defect Behavioral abnormality Abnormality of cardiovascular system morphology Anteverted nares Delayed gross motor development Patent ductus arteriosus Cutaneous syndactyly Respiratory insufficiency Ataxia Prominent forehead Autism Growth delay Cataract Dysphasia Ventriculomegaly Facial palsy Hypogonadism Camptodactyly Ophthalmoplegia Narrow mouth Long face Feeding difficulties Downturned corners of mouth Mixed hearing impairment Generalized muscle weakness Failure to thrive Gait disturbance Areflexia Midface retrusion Long philtrum

Rare Symptoms - Less than 30% cases

Neoplasm Hypospadias Micropenis Macrocephaly Increased muscle fatiguability Abnormality of the kidney Fatigue Ventricular hypertrophy Nasal speech Cardiomyopathy Paralysis Arachnodactyly EEG abnormality Osteopenia Dental malocclusion Abnormal vertebral morphology Abnormality of the neck Rib fusion Intellectual disability, mild Dilatation Headache Intellectual disability, severe Hip dysplasia Malar flattening Microtia Atrial septal defect Clinodactyly Clinodactyly of the 5th finger Posteriorly rotated ears Delayed closure of the anterior fontanelle Hydronephrosis Cleft upper lip Delayed speech and language development Bifid uvula Intestinal malrotation Submucous cleft hard palate Abnormality of the skin Large fontanelles Coarctation of aorta Delayed cranial suture closure Frontal bossing Nystagmus Agenesis of corpus callosum Synophrys Pes cavus Gait ataxia Deeply set eye Aggressive behavior Optic disc pallor Pyloric stenosis Broad forehead Cerebral calcification Sensorineural hearing impairment Thick lower lip vermilion Osteolysis Self-injurious behavior Metatarsus adductus Congenital hypothyroidism Talipes equinovarus Visual impairment Short neck Pain Abnormal cardiac septum morphology Cardiomegaly Blepharophimosis Tetralogy of Fallot Arthrogryposis multiplex congenita Abnormal heart morphology Talipes Arrhythmia Narrow forehead Patent foramen ovale Constipation External ophthalmoplegia Open mouth Exercise intolerance Congenital contracture Depressivity Atrioventricular block Abnormality of the dentition Multiple joint contractures Myopia Proximal muscle weakness Hip dislocation Hypertrophic cardiomyopathy Hypoglycemia Multiple mitochondrial DNA deletions Fever Progressive external ophthalmoplegia Hyporeflexia Hypoplasia of the maxilla Microcephaly Cerebral cortical atrophy Joint stiffness Glaucoma Optic atrophy Cerebral atrophy Abnormality of the pinna Feeding difficulties in infancy Absent speech Abnormality of the eye Upslanted palpebral fissure Rod-cone dystrophy Low-set, posteriorly rotated ears Neonatal hypotonia Reduced visual acuity Coloboma Obesity Delayed skeletal maturation Mandibular prognathia Abnormality of the liver Small for gestational age Camptodactyly of finger Polymicrogyria Bilateral ptosis Delayed myelination Brain atrophy Renal cyst Short foot Hepatic steatosis Abnormal blistering of the skin Hypoplasia of penis Oral cleft Neurological speech impairment Poor speech Brachydactyly Hypermetropia Anxiety Abnormality of the cerebral white matter Dilated cardiomyopathy Abnormality of the ribs Epileptic encephalopathy Hypsarrhythmia Ophthalmoparesis Abnormal social behavior Photophobia Vestibular dysfunction Thoracic dysplasia Ectopic anus Echolalia Progressive hearing impairment Misalignment of teeth Osteopetrosis Pierre-Robin sequence Ankylosis Tracheomalacia Fibular hypoplasia Anal stenosis Agitation Natal tooth Large forehead Thickened calvaria Partial agenesis of the corpus callosum Visual field defect Hypoplastic left heart Aphasia Visual hallucinations Hyperostosis Flat occiput Nephroblastoma Overfolded helix Metaphyseal widening Increased susceptibility to fractures Broad ribs Facial paralysis Pallor Laryngotracheomalacia Strabismus Nyctalopia Paranasal sinus hypoplasia Straight clavicles Metaphyseal striations Interphalangeal joint contracture of finger Facial hyperostosis High iliac wings Unilateral facial palsy Laryngeal web Craniofacial osteosclerosis Large iliac wings Alobar holoprosencephaly White forelock Broad clavicles Rough bone trabeculation Flexion contracture of toe Asymmetry of the thorax Sclerosis of skull base Thoracolumbar kyphosis Psychosis Broad-based gait Hallucinations Truncal ataxia Otosclerosis Fibular aplasia Horizontal nystagmus Osteopathia striata Subsarcolemmal accumulations of abnormally shaped mitochondria Tetraparesis 11 pairs of ribs Abnormal left ventricle morphology Abnormal renal physiology Colpocephaly Congenital talipes calcaneovalgus Thickened helices Abnormality of the spleen Left ventricular noncompaction Redundant neck skin Volvulus Delayed CNS myelination Dilation of lateral ventricles Abnormality of the testis Lower limb asymmetry Abnormality of chromosome stability Optic nerve coloboma Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Ocular albinism Coronal craniosynostosis Abnormal eyebrow morphology Hiatus hernia Self-mutilation Arnold-Chiari type I malformation Overweight Epileptic spasms Biliary tract abnormality Cavum septum pellucidum Holoprosencephaly Hypoplastic female external genitalia Abnormal external genitalia Horizontal eyebrow Hypoplastic labia minora Muscle flaccidity Cranial nerve VI palsy Noncompaction cardiomyopathy Annular pancreas Asymmetry of the ears Aortic arch aneurysm Oppositional defiant disorder Abnormality of brain morphology Abnormality of the hairline Bifid ribs Periventricular leukomalacia Expressive language delay Ebstein anomaly of the tricuspid valve Abnormality of the femoral neck Abnormality of the optic disc Abnormality of the anus Gastric ulcer Widened subarachnoid space Abnormality of the mandible Abnormality of female external genitalia Lambdoidal craniosynostosis Bilobate gallbladder Impaired social interactions Abnormal corpus callosum morphology Abnormal lung lobation Foot polydactyly Depressed nasal ridge Stereotypy Aplasia/Hypoplasia of the corpus callosum Bicuspid aortic valve Leukoencephalopathy Hypercholesterolemia Cranial nerve paralysis Abnormal intestine morphology Spastic tetraparesis Narrow palpebral fissure Generalized hirsutism Pointed chin Wide anterior fontanel Short phalanx of finger Telangiectasia Scrotal hypoplasia Decreased body weight Ragged-red muscle fibers EMG: myopathic abnormalities Goiter Heterotopia Pachygyria Hyperthyroidism Cytochrome C oxidase-negative muscle fibers Mitral regurgitation Talipes valgus Dysarthria Hypertrichosis Sacral dimple Infantile muscular hypotonia Aplasia/Hypoplasia involving bones of the feet Solitary renal cyst Hyperplastic labia majora Abnormal parietal bone morphology Spinal canal stenosis Aortic root aneurysm Abnormality of the cerebral ventricles Abnormality of the renal pelvis Anteriorly placed anus Neuroblastoma Slender long bone Telangiectasia of the skin Absent septum pellucidum Abnormality of the immune system Abnormal heart valve morphology Abnormality of vision Agenesis of the anterior commissure Infantile spasms Dementia High hypermetropia Macule Polyphagia Hypermelanotic macule Hemiplegia/hemiparesis Congenital sensorineural hearing impairment Clitoral hypertrophy Hand polydactyly Increased serum lactate Failure to thrive in infancy Mutism Insulin-resistant diabetes mellitus Spina bifida occulta Distal arthrogryposis Talipes calcaneovalgus Camptodactyly of toe Popliteal pterygium Multiple pterygia Clitoral hypoplasia Long clavicles Diaphragmatic eventration Fused cervical vertebrae Patellar aplasia Male hypogonadism Furrowed tongue Down-sloping shoulders Hypoplastic nipples Cervical C2/C3 vertebral fusion Dislocated radial head Vertebral fusion Rocker bottom foot Neonatal respiratory distress Pterygium Aortic regurgitation Abnormality of the genital system Decreased fetal movement Congenital diaphragmatic hernia Pulmonary hypoplasia Delayed puberty Respiratory tract infection Prune belly Antecubital pterygium Inguinal hernia Recurrent respiratory infections Abnormality of the cardiovascular system Peripheral demyelination Urinary incontinence Macroglossia Limb muscle weakness Muscular dystrophy Stroke Myalgia Difficulty walking Acidosis Dyspnea Respiratory failure Elevated serum creatine phosphokinase Bilateral camptodactyly Abnormality of metabolism/homeostasis Splenomegaly Congestive heart failure Hepatomegaly Dysplastic patella Anterior clefting of vertebral bodies Absence of labia majora Exostosis of the external auditory canal Intercrural pterygium Neck pterygia Axillary pterygium Hypoplastic heart Umbilical hernia Hernia Progressive muscle weakness Recurrent infections Esotropia Round face Syncope Sudden cardiac death Coma Joint hypermobility Toe syndactyly Carious teeth Autistic behavior Thin upper lip vermilion Pneumonia Encephalopathy Immunodeficiency Pulmonary arterial hypertension Multiple skeletal anomalies Restrictive deficit on pulmonary function testing Malignant hyperthermia Ankle contracture Myopathic facies Gowers sign Tented upper lip vermilion Short palpebral fissure Abnormality of the foot Telecanthus Kyphoscoliosis Motor delay Microdontia Abnormality of the face Respiratory distress Cutaneous finger syndactyly Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Hypothermia Amelogenesis imperfecta Protruding tongue Bronchitis Hypoplasia of dental enamel Prolonged QT interval 2-3 toe syndactyly Ventricular fibrillation Obsessive-compulsive behavior Optic nerve hypoplasia Ventricular arrhythmia Ventricular tachycardia Abnormality of dental enamel Hypocalcemia Cardiac arrest Bradycardia Sinusitis Type II diabetes mellitus Aspiration Microretrognathia Posterior polar cataract High forehead Polyhydramnios Severe short stature Superiorly displaced ears Calcification of the auricular cartilage Increased size of the mandible Absent facial hair Posterior scalloping of vertebral bodies Torus palatinus Motor tics Basilar impression Absent axillary hair Abnormal glucose tolerance Skeletal dysplasia Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Broad face Progressive gait ataxia Thoracic kyphosis Poor coordination Irregular vertebral endplates Retrognathia Cleft lip Striae distensae Oligohydramnios Narrow palate Spontaneous abortion Multicystic kidney dysplasia Spina bifida Increased bone mineral density Joint contracture of the hand Aortic valve stenosis Dental crowding Aganglionic megacolon Omphalocele Abnormality of the metaphysis Lumbar hyperlordosis Specific learning disability Apnea Wide intermamillary distance Webbed neck Broad nasal tip Delayed eruption of teeth High, narrow palate Thick vermilion border Flat face Thin vermilion border Anal atresia Dolichocephaly Craniosynostosis Hyperlordosis Restlessness Hip contracture EMG abnormality Abdominal wall muscle weakness Developmental regression Macrotia Diabetes mellitus Osteoporosis Babinski sign Microphthalmia Hypertonia Peripheral neuropathy Anemia Firm muscles Abnormal CNS myelination Shortened PR interval Diaphragmatic paralysis Abnormal pyramidal sign Pelvic girdle muscle weakness Stroke-like episode Wolff-Parkinson-White syndrome Progressive proximal muscle weakness Dilatation of the cerebral artery Difficulty running Exertional dyspnea Emphysema Respiratory insufficiency due to muscle weakness Atherosclerosis Macular degeneration Scapular winging Protruding ear Prominent nasal bridge Sparse body hair Hypergonadotropic hypogonadism Basal ganglia calcification Ankle clonus Truncal obesity Anonychia Bilateral cryptorchidism Melanocytic nevus Schizophrenia Abnormal palate morphology Plagiocephaly Spastic paraparesis Knee flexion contracture Paraparesis Clonus Congenital cataract Gynecomastia Thickened skin Abnormal form of the vertebral bodies Sparse scalp hair Bradykinesia Otitis media Nevus Neurodegeneration Short distal phalanx of finger Distal amyotrophy Genu valgum Narrow chest Inappropriate laughter


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