Muscle weakness, and Aortic valve stenosis

Diseases related with Muscle weakness and Aortic valve stenosis

In the following list you will find some of the most common rare diseases related to Muscle weakness and Aortic valve stenosis that can help you solving undiagnosed cases.


Top matches:

Low match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Low match SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Low match AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA


Autosomal recessive infantile hypercalcemia is a rare, genetic, phosphocalcic metabolism disorder characterized by early-onset hypercalcemia, hypophosphatemia, hypercalciuria, decreased intact parathyroid hormone serum levels and medullary nephrocalcinosis, typically manifesting with failure to thrive, hypotonia, vomiting, constipation and/or polyuria.

AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA Is also known as familial infantile hypercalcemia with suppressed intact parathyroid hormone|hypercalcemia, idiopathic, of infancy

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Failure to thrive
  • Muscular hypotonia
  • Vomiting


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INFANTILE HYPERCALCEMIA

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Other less relevant matches:

Low match CHANARIN-DORFMAN SYNDROME; CDS


CHANARIN-DORFMAN SYNDROME; CDS Is also known as neutral lipid storage disease with ichthyosis|dcs|nlsdi|triglyceride storage disease with impaired long-chain fatty acid oxidation|dorfman-chanarin syndrome|chanarin-dorfman disease|ichthyosiform erythroderma with leukocyte vacuolation|ichthyotic neutral

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHANARIN-DORFMAN SYNDROME; CDS

Low match TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Low match NOONAN SYNDROME


Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Low match OSTEOPATHIA STRIATA-CRANIAL SCLEROSIS 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

Low match D-2-HYDROXYGLUTARIC ACIDURIA


D-2-hydroxyglutaric aciduria (D-2-HGA) is a rare clinically variable neurological form of 2-hydroxyglutaric aciduria (see this term) characterized biochemically by elevated D-2-hydroxyglutaric acid (D-2-HG) in the urine, plasma and cerebrospinal fluid.

D-2-HYDROXYGLUTARIC ACIDURIA Is also known as d-2-hga|d-2-hydroxyglutaric acidemia|d2hga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about D-2-HYDROXYGLUTARIC ACIDURIA

Low match X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME


X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME

Low match HURLER-SCHEIE SYNDROME


Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Top 5 symptoms//phenotypes associated to Muscle weakness and Aortic valve stenosis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Muscle weakness and Aortic valve stenosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Hearing impairment Abnormality of the dentition Ptosis Muscular hypotonia Seizures Coarse facial features Hypertelorism Anteverted nares Failure to thrive Macrocephaly Talipes equinovarus Broad forehead Short neck Cardiomegaly Sensorineural hearing impairment Thick vermilion border Congestive heart failure Scoliosis Kyphoscoliosis Glaucoma Hepatomegaly Hepatosplenomegaly Dolichocephaly Aortic regurgitation Skeletal dysplasia Flexion contracture Thick lower lip vermilion

Rare Symptoms - Less than 30% cases


Polyhydramnios Proptosis Constipation Gastroesophageal reflux Clinodactyly of the 5th finger Patent ductus arteriosus Clinodactyly Pectus excavatum Abnormal heart valve morphology Abnormality of cardiovascular system morphology Atrial septal defect Myopathy Neurological speech impairment Downslanted palpebral fissures Epicanthus Feeding difficulties Microtia High palate Dilatation Arthralgia Hypertrophic cardiomyopathy Ventricular septal defect Arnold-Chiari malformation Hydronephrosis Conductive hearing impairment Intellectual disability, mild Headache Severe short stature Prominent forehead Brachycephaly Retrognathia Apnea Ventriculomegaly Craniosynostosis Broad ribs Flat face Broad nasal tip Lumbar hyperlordosis Abnormal vertebral morphology Hydrocephalus Frontal bossing Pectus carinatum Coarse hair High, narrow palate Dental malocclusion Webbed neck Otitis media Wide intermamillary distance Coarctation of aorta Multiple joint contractures Wide nasal bridge Shield chest Dilation of lateral ventricles Cardiomyopathy Respiratory insufficiency Visual impairment Cognitive impairment Depressed nasal bridge Cataract High forehead Strabismus Myopia Coxa valga Mitral regurgitation Mitral valve calcification Scaling skin Pulmonic stenosis Psoriasiform dermatitis Growth delay Anemia Hypertension High anterior hairline Hyperkeratosis Lethargy Weight loss Vomiting Arrhythmia Recurrent respiratory infections Pes cavus Genu valgum Osteopenia Carious teeth Aortic valve calcification Arthritis Osteolysis Hip subluxation Nystagmus Abnormality of the skeletal system Decreased body weight Malar flattening Inspiratory stridor Behavioral abnormality Narrow naris Blindness Anteverted ears Posterior scalloping of vertebral bodies Respiratory distress Infantile encephalopathy Glutaric aciduria Generalized tonic seizures Cardiogenic shock Subependymal cysts D-2-hydroxyglutaric aciduria Microcephaly Paranasal sinus hypoplasia Straight clavicles Metaphyseal striations Multifocal cerebral white matter abnormalities Osteopathia striata Cerebral atrophy Severe muscular hypotonia Shock Turricephaly Absence seizures Focal impaired awareness seizure Cerebral visual impairment Involuntary movements Hypsarrhythmia Epileptic encephalopathy Focal-onset seizure Aciduria Stridor Increased CSF protein Episodic vomiting Abnormality of lysosomal metabolism Delayed CNS myelination Protruding ear Irritability Mandibular prognathia Cerebral cortical atrophy Hyperactivity Periventricular leukomalacia Myoclonus Short tubular bones of the hand Encephalopathy Abnormal metaphyseal trabeculation Facial hyperostosis Natal tooth Thoracic dysplasia Ectopic anus Echolalia Misalignment of teeth Osteopetrosis Pierre-Robin sequence Ankylosis Tracheomalacia Fibular hypoplasia Anal stenosis Abnormality of the styloid process of ulna Submucous cleft hard palate Thickened calvaria Large forehead Partial agenesis of the corpus callosum Mixed hearing impairment Visual field defect Hypoplastic left heart Dysphasia Aphasia Delayed cranial suture closure Hyperostosis Flat occiput Nephroblastoma Overfolded helix Metaphyseal widening Contractures of the joints of the upper limbs Facial paralysis High iliac wings Broad clavicles Unilateral facial palsy Laryngeal web Craniofacial osteosclerosis Abnormality of the skull base Large iliac wings Abnormality of the sella turcica Absent speech Abnormality of femoral epiphysis Anterior scalloping of vertebral bodies Laryngotracheomalacia Abnormality of cranial sutures Alobar holoprosencephaly Abnormality of the glenoid fossa White forelock Rough bone trabeculation Flexion contracture of toe Asymmetry of the thorax Abnormality of the lumbar spine Abnormality of glycosaminoglycan metabolism Sclerosis of skull base Thoracolumbar kyphosis Otosclerosis Widely patent coronal suture Fibular aplasia Delayed closure of the anterior fontanelle Increased size of nasopharyngeal adenoids Spasticity Abnormality of the thumb Macrotia Abnormality of the metacarpal bones Spinal canal stenosis Hyperactive deep tendon reflexes Arthropathy Exertional dyspnea Restrictive ventilatory defect Toe walking Abnormality of dental morphology Heart murmur Chronic otitis media Back pain Easy fatigability Increased intracranial pressure Widely spaced teeth Protuberant abdomen Opacification of the corneal stroma Abnormality of dental enamel Knee flexion contracture Generalized hirsutism Congenital hip dislocation Elbow flexion contracture Short ribs Abnormality of the optic disc Abnormality of retinal pigmentation Abnormality of the gingiva J-shaped sella turcica Thickened skin Rhinitis Abnormality of the radius Heparan sulfate excretion in urine Hydrocele testis Myelopathy Abnormal cornea morphology Nasal obstruction Sagittal craniosynostosis Abnormal diaphysis morphology Carpal bone hypoplasia Flared iliac wings Cor pulmonale Sparse pubic hair Sparse axillary hair Platybasia Communicating hydrocephalus Tracheal stenosis Peripheral visual field loss Dysostosis multiplex Abnormality of the ulna Hypoplastic iliac wing Diastasis recti Spinal cord compression Wide cranial sutures Chronic sinusitis Obstructive sleep apnea Abnormal nerve conduction velocity Papilledema Peripheral edema Blepharitis Corneal crystals Lower limb spasticity Abnormal form of the vertebral bodies Tetraplegia Kyphosis Hypermetropia Platyspondyly Corneal opacity Nyctalopia Abnormal pyramidal sign Camptodactyly of finger Joint stiffness Umbilical hernia Abnormality of the breast Abdominal pain Inguinal hernia Hernia Splenomegaly Limb muscle weakness Diarrhea Gait disturbance Motor delay Sclerotic vertebral endplates Contractures of the large joints Venous insufficiency Atrial flutter Macroorchidism Small abnormally formed scapulae Atrial fibrillation Intellectual disability, profound Spastic tetraplegia Synophrys Dilated third ventricle Hernia of the abdominal wall Dermatan sulfate excretion in urine Delayed menarche Urinary glycosaminoglycan excretion Recurrent otitis media Cervical instability Abnormality of the ribs Frontal hirsutism Optic nerve compression Progressive flexion contractures Microdontia Progressive visual loss Thickened ribs Pyloric stenosis Abnormality of the acetabulum Lower limb muscle weakness Abnormality of mucopolysaccharide metabolism Limited shoulder movement Hip dysplasia Limitation of joint mobility Asthma Macroglossia Sleep disturbance Wide nose Hirsutism Retinal degeneration Abnormality of the tonsils Exercise-induced muscle stiffness Astigmatism Increased susceptibility to fractures Hypoplasia of the corpus callosum Nasal speech Skin ulcer Abnormal endocardium morphology Ascending tubular aorta aneurysm Arterial stenosis Abnormal pattern of respiration Inflammatory abnormality of the eye Abnormal aortic valve morphology Reduced consciousness/confusion Cerebral ischemia Gangrene Hemoptysis Vasculitis Anorexia Gastrointestinal infarctions Subcutaneous nodule Myocardial infarction Pulmonary arterial hypertension Migraine Chest pain Retinopathy Myalgia Hyperhidrosis Fatigue Fever Generalized ichthyosis Decreased plasma carnitine Amaurosis fugax Arteritis Subcapsular cataract Delayed puberty Cafe-au-lait spot Lymphedema Amblyopia Abnormality of the genital system Low posterior hairline Mitral valve prolapse Tetralogy of Fallot Abnormal bleeding Triangular face Bruising susceptibility Joint hypermobility Joint hyperflexibility Sparse hair Hypertensive crisis Postnatal growth retardation Feeding difficulties in infancy Low-set, posteriorly rotated ears Hypogonadism Delayed skeletal maturation Thrombocytopenia Midface retrusion Dysphagia Brachydactyly Dysarthria Cryptorchidism Increased inflammatory response Congenital nonbullous ichthyosiform erythroderma Abnormality of blood and blood-forming tissues Scapular winging Smooth philtrum Muscle fiber atrophy Subvalvular aortic stenosis Onycholysis Osteolytic defects of the phalanges of the hand Periodontitis Heart block Epiphora Cutaneous photosensitivity Waddling gait Generalized muscle weakness Hypoplasia of the maxilla Hip dislocation Premature loss of permanent teeth Joint laxity Thin upper lip vermilion Osteoporosis Visual loss Recurrent infections Skeletal muscle atrophy Calcification of the aorta Pulmonary edema Atopic dermatitis Inflammatory abnormality of the skin Dry skin Edema Shallow acetabular fossae Unerupted tooth Congenital ichthyosiform erythroderma Polyuria Erythroderma Ectropion Everted lower lip vermilion Hepatic steatosis Ichthyosis Muscular dystrophy Alopecia Areflexia Ataxia Elfin facies Medullary nephrocalcinosis Infantile hypercalcemia Hypercalcemia Dentinogenesis imperfecta limited to primary teeth Hypercalciuria Nephrocalcinosis Nephrolithiasis Dehydration Abnormality of the eye Expanded phalanges with widened medullary cavities Expanded metacarpals with widened medullary cavities Hypoplastic distal radial epiphyses Expanded metatarsals with widened medullary cavities Aortic arch calcification Hypoplasia of the tooth germ Tendon rupture Hypogonadotrophic hypogonadism Abnormal dermatoglyphics Mutism Delayed speech and language development Paralysis Hyperlordosis Camptodactyly Facial palsy Cleft lip Hypothyroidism Posteriorly rotated ears Abnormal heart morphology Syndactyly Long philtrum Intellectual disability, severe Low-set ears Anal atresia Pain Cleft palate Neoplasm Abnormality of the vestibular nerve Prominent digit pad Aplasia of lymphatic vessels Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Aplasia of the semicircular canal Ophthalmoplegia Arachnodactyly Abnormal location of ears Aganglionic megacolon Cutaneous syndactyly Holoprosencephaly Spina bifida occulta Microretrognathia Narrow palate Spontaneous abortion Multicystic kidney dysplasia Spina bifida Increased bone mineral density Joint contracture of the hand Dental crowding Large fontanelles Omphalocele Cleft upper lip Abnormality of the metaphysis Open mouth Oligohydramnios Narrow forehead Cerebral calcification Specific learning disability Abnormality of the skin Intestinal malrotation Bifid uvula Delayed eruption of teeth Thin vermilion border Long face Hypoplasia of lymphatic vessels Puberty and gonadal disorders Abnormality of the urinary system Male infertility Abnormality of refraction Abnormality of the helix Abnormality of the testis Premature skin wrinkling Acute leukemia Thickened nuchal skin fold Abnormality of the mouth Pulmonary artery stenosis Acute lymphoblastic leukemia Aortic root aneurysm Thoracic scoliosis Curly hair Abnormality of digit Redundant neck skin Cystic hygroma Atrioventricular canal defect Prolonged bleeding time Abnormality of coagulation Myopathic facies Cubitus valgus Melanocytic nevus Pleural effusion Abnormality of the thorax Failure to thrive in infancy Bilateral ptosis Radioulnar synostosis Elevated circulating follicle stimulating hormone level Abnormality of the spleen Neurofibrosarcoma Intestinal lymphangiectasia Amegakaryocytic thrombocytopenia Prominent nasolabial fold Superior pectus carinatum Hyperkeratosis pilaris Reduced factor XII activity Reduced factor XI activity Abnormal platelet function Pulmonary lymphangiectasia Reduced factor VIII activity Abnormal pulmonary valve morphology Prominent fingertip pads Unilateral ptosis Abnormality of the mandible Aplasia/Hypoplasia of the abdominal wall musculature Prolonged QRS complex Multiple lentigines Abnormality of the lymphatic system Chylothorax Synovitis Abnormal hair quantity Enlarged thorax Abnormality of the pulmonary artery Myeloproliferative disorder Elevated circulating luteinizing hormone level Thickened helices Abnormal mitral valve morphology Abnormality of the humeral epiphysis



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