Dysarthria, and Aortic valve stenosis

Diseases related with Dysarthria and Aortic valve stenosis

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

Top matches:

Medium 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

Medium match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Medium match SLC35A1-CDG

SLC35A1-CDG is an extremely rare form of CDG syndrome (see this term) characterized clinically in the single reported case by repeated hemorrhagic incidents, including severe pulmonary hemorrhage.

SLC35A1-CDG Is also known as cdg iif|congenital disorder of glycosylation type iif|cmp-sialic acid transporter deficiency|congenital disorder of glycosylation type 2f|cdg-iif|carbohydrate deficient glycoprotein syndrome type iif|cdg2f|cdg syndrome type iif|cdgiif

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SLC35A1-CDG

Other less relevant matches:

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM; PMRED

KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION Is also known as kleefstra syndrome due to del(9)(q34)|9q subtelomeric deletion syndrome|kleefstra syndrome due to 9q subtelomeric deletion|kleefstra syndrome due to monosomy 9q34|9qstds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about KLEEFSTRA SYNDROME DUE TO 9Q34 MICRODELETION

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A Is also known as ad-spg9a|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|cataracts-motor neuropathy-short stature-skeletal anomalies syndrome

Related symptoms:

  • Seizures
  • Sensorineural hearing impairment
  • Muscle weakness
  • Tremor
  • Babinski sign


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A

LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies (Moog et al., 2007).The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by Bennett et al., 2016).

ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS Is also known as haberland syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS

Aniridia-cerebellar ataxia-intellectual disability syndrome, also known as Gillespie syndrome, is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia with non-progressive cerebellar ataxia, and intellectual disability.

ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME Is also known as gillespie syndrome|aniridia, cerebellar ataxia, and mental retardation

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ANIRIDIA-CEREBELLAR ATAXIA-INTELLECTUAL DISABILITY SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Aortic valve stenosis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cryptorchidism Uncommon - Between 30% and 50% cases
Strabismus Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Coarctation of aorta Kyphoscoliosis Mitral regurgitation Generalized hypotonia Ptosis Feeding difficulties Muscular hypotonia Neurological speech impairment Hearing impairment Cerebral cortical atrophy Growth delay Pulmonic stenosis Mutism Nystagmus Failure to thrive Sensorineural hearing impairment Macroglossia Intellectual disability, mild Renal insufficiency Hypertrophic cardiomyopathy Congestive heart failure Absent speech Webbed neck Delayed speech and language development Tremor Tetralogy of Fallot Behavioral abnormality Ventriculomegaly Depressivity Spasticity Scoliosis Hypertelorism Abnormal facial shape Epicanthus Subvalvular aortic stenosis Microcephaly Ataxia Short stature Ventricular septal defect Atrial septal defect Midface retrusion Cerebellar hypoplasia Hypoplasia of the corpus callosum Pectus excavatum Corneal opacity

Rare Symptoms - Less than 30% cases

Macrotia Irritability Protruding ear Umbilical hernia Autism Anxiety Micropenis Proteinuria Hypertension Abnormal heart morphology Coloboma Cleft palate Pain Cataract Cognitive impairment Flexion contracture Visual impairment Macrocephaly Obesity Respiratory distress Cerebral atrophy Hypertonia Kyphosis Short nose Hernia Paralysis Vesicoureteral reflux Wide mouth Hallux valgus Absent septum pellucidum Dysphasia Aphasia Synophrys Agenesis of corpus callosum Anteverted nares Unilateral renal agenesis Horizontal nystagmus Abnormality of the cerebral white matter Sacral dimple Nevus flammeus Intellectual disability, profound Tetraplegia Hydrocephalus Flat occiput Peripheral pulmonary artery stenosis Aortic regurgitation Hyporeflexia Pelvic kidney Echolalia Bicuspid aortic valve Scarring Chest pain Abnormal cardiac septum morphology Neonatal hypotonia Mandibular prognathia Alopecia Everted lower lip vermilion Sleep disturbance Postural instability Neoplasm Multiple lentigines Subcortical cerebral atrophy Hypotelorism Hypoplasia of penis Cardiomegaly Myocardial infarction Hemiparesis Involuntary movements Abnormal cerebellum morphology Congenital cataract Spina bifida occulta Hypoplasia of the iris Inguinal hernia Thick vermilion border Failure to thrive in infancy Constipation Clinodactyly of the 5th finger Arnold-Chiari malformation Delayed skeletal maturation Arrhythmia Radioulnar synostosis Bilateral ptosis Patent ductus arteriosus Scapular winging Clinodactyly Broad forehead Abnormality of cardiovascular system morphology Cubitus valgus Short neck Prolonged bleeding time Downslanted palpebral fissures Pulmonary artery stenosis Abnormal dermatoglyphics Hypogonadotrophic hypogonadism Myopia Hydronephrosis Delayed puberty Joint hyperflexibility Pectus carinatum Feeding difficulties in infancy Low-set, posteriorly rotated ears High, narrow palate Triangular face Abnormal bleeding Dental malocclusion Cafe-au-lait spot Otitis media Mitral valve prolapse Coarse facial features Gastroesophageal reflux High forehead Thick lower lip vermilion Abnormality of the genital system Amblyopia Abnormality of the testis Thrombocytopenia Abnormality of refraction Abnormal mitral valve morphology Micrognathia Abnormality of the pulmonary artery Muscle weakness Thyroid hemiagenesis Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Apathy Absence seizures Status epilepticus Specific learning disability Highly arched eyebrow Nystagmus-induced head nodding Abnormality of the diencephalon Downturned corners of mouth Overfriendliness Hearing abnormality Brachycephaly Hypoplasia of the fovea Early onset of sexual maturation Speech apraxia Dyssynergia Broad jaw Protruding tongue Aniridia Epileptic spasms Babinski sign Memory impairment Abnormal social behavior Urinary incontinence Flat cornea Muscle cramps Falls Mask-like facies Abnormal pyramidal sign Dementia Pes cavus Cerebral cortical hemiatrophy Functional abnormality of male internal genitalia Brisk reflexes Conotruncal defect Supravalvular aortic stenosis Femoral hernia Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Stellate iris Hydrocele testis Subglottic stenosis Decreased platelet glycoprotein Ib Atrial flutter Abnormality of the thumb Macroorchidism Multiple joint contractures Atrial fibrillation Titubation Spastic tetraplegia Broad distal phalanx of finger Craniofacial asymmetry Abnormal megakaryocyte morphology Venous insufficiency Scanning speech Abnormal platelet granules Pulmonary hemorrhage Giant platelets Subcutaneous hemorrhage Macrothrombocytopenia Orofacial dyskinesia Hypoxemia Tics Cellulitis Truncal titubation Recurrent bacterial infections Heart murmur Bulbous nose Descending aorta hypoplasia Atonic seizures CNS hypomyelination Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Encephalopathy Broad thumb Tapered finger Short palm Pneumonia Deeply set eye Contractures of the large joints Short philtrum Generalized tonic-clonic seizures Poor speech Severe global developmental delay EEG abnormality Myoclonus Areflexia Neutropenia Aminoaciduria Sclerotic vertebral endplates Psychosis Craniofacial hyperostosis Spastic gait Papule Porencephalic cyst Interrupted aortic arch Glioma Visceral angiomatosis Abnormal aortic morphology Alopecia areata Abnormal anterior chamber morphology Abnormal nasolacrimal system morphology Epibulbar dermoid Tricuspid valve prolapse Hypotrichosis Subcutaneous lipoma Retinopathy Nevus Hemiatrophy Chorioretinitis Neoplasm of the skeletal system Rigidity Skeletal dysplasia Neurodevelopmental abnormality Odontoma Osteochondrosis Linear hyperpigmentation Abnormal cartilage morphology Lipomas of the central neryous system Motor delay Iris coloboma Dandy-Walker malformation Optic atrophy Abnormal eyelash morphology Xanthomatosis Hemihypertrophy Bone cyst Ectopia pupillae Dysostosis multiplex Eyelid coloboma Abnormal eyelid morphology Skin tags Sclerocornea Capillary hemangioma Abnormality of the skull Arachnoid cyst Lipoma Cerebral calcification Aplasia cutis congenita Hamartoma Multiple lipomas Cortical dysplasia Lipodystrophy Hemiplegia Hemangioma Osteolysis Muscle stiffness Subcutaneous nodule Abnormality of the face Pulmonary arterial hypertension Microphthalmia Aplasia of the ovary Urinary urgency Hyperreflexia in upper limbs Posteriorly rotated ears Low anterior hairline Hypospadias Dilatation Cardiomyopathy Respiratory insufficiency Poor head control Abnormality of the skeletal system Fatigue Low-set ears Abnormality of pain sensation Abnormality of the dorsal column of the spinal cord Anarthria Limb ataxia Pollakisuria Lower limb hypertonia Astrocytoma Slurred speech Lower limb pain Postural tremor Low back pain Spastic dysarthria Corpus callosum atrophy Enlarged cisterna magna Impaired vibration sensation in the lower limbs Lower limb hyperreflexia Hyperkeratosis Conductive hearing impairment Cerebellar atrophy Abnormal aortic valve morphology Gait ataxia Reduced visual acuity Abnormality of the gastric mucosa Coronary artery aneurysm Muscular hypotonia of the trunk Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Delayed menarche Parietal bossing Abnormality of movement Limited elbow movement Hyposmia Apraxia Unsteady gait Angina pectoris Hypopigmentation of the skin Missing ribs Heart block Multiple cafe-au-lait spots Severe hearing impairment Bundle branch block Bilateral cryptorchidism Pterygium Depressed nasal ridge Overgrowth Syncope Renovascular hypertension Vertebral segmentation defect Infantile hypercalcemia Aplasia of lymphatic vessels Elevated serum creatine phosphokinase Malar flattening Long philtrum Abnormality of the dentition Myopathy Gait disturbance Intrauterine growth retardation Wide nasal bridge Hyperreflexia Depressed nasal bridge Abnormality of the vestibular nerve Prominent digit pad Abnormal atrial septum morphology Osteoporosis Abnormal lymphatic vessel morphology Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Abnormal location of ears Puberty and gonadal disorders Neurofibrosarcoma Amegakaryocytic thrombocytopenia Prominent nasolabial fold Superior pectus carinatum Hyperkeratosis pilaris Recurrent respiratory infections Diabetes mellitus Reduced factor XI activity Blepharophimosis Broad nasal tip Hypodontia Oral cleft Dysmetria Smooth philtrum Genu valgum Malabsorption Carious teeth Nausea and vomiting Small for gestational age Stroke Attention deficit hyperactivity disorder Craniosynostosis Abdominal pain Joint stiffness Autistic behavior Hyperlordosis Developmental regression Abnormality of the kidney Intellectual disability, moderate Cleft lip Joint laxity Pes planus Arthralgia Osteopenia Hypothyroidism Glaucoma Reduced factor XII activity Abnormal platelet function Sudden cardiac death Low posterior hairline Abnormality of digit Cystic hygroma Atrioventricular canal defect Abnormality of coagulation Myopathic facies Melanocytic nevus Pleural effusion Abnormality of the thorax Abnormality of the urinary system Coarse hair Lymphedema Decreased body weight Wide intermamillary distance Curly hair Bruising susceptibility Joint hypermobility Sparse hair Postnatal growth retardation Hepatosplenomegaly Polyhydramnios Proptosis Hypogonadism Talipes equinovarus Dysphagia Brachydactyly Hepatomegaly High palate Male infertility Thoracic scoliosis Pulmonary lymphangiectasia Myeloproliferative disorder Reduced factor VIII activity Abnormal pulmonary valve morphology Prominent fingertip pads Unilateral ptosis Intestinal lymphangiectasia Abnormality of the mandible Prolonged QRS complex Abnormality of the lymphatic system Chylothorax Synovitis Abnormal hair quantity Enlarged thorax Elevated circulating luteinizing hormone level Aortic root aneurysm Shield chest Thickened helices Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the spleen Redundant neck skin Elevated circulating follicle stimulating hormone level Abnormality of the helix High anterior hairline Premature skin wrinkling Acute leukemia Thickened nuchal skin fold Abnormality of the mouth Acute lymphoblastic leukemia Full cheeks Esotropia Food intolerance Large earlobe Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Decreased plasma carnitine Periorbital fullness Gait imbalance Cerebral ischemia Dyslexia Villous atrophy Enuresis Abnormality of the cerebral vasculature Abnormality of the neck Tubulointerstitial nephritis Peptic ulcer Right ventricular hypertrophy Chronic constipation Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Down-sloping shoulders Multiple renal cysts Patellar dislocation Abnormality of the vasculature Poor coordination Soft skin Arnold-Chiari type I malformation Posterior embryotoxon Cystic renal dysplasia Periorbital edema Megalocornea Vascular tortuosity Hyperacusis Retinal arteriolar tortuosity Coronary artery stenosis Renal artery stenosis Abnormality of the bladder Synostosis of joints Nocturia Obsessive-compulsive trait Aortic arch aneurysm Overriding aorta Tubulointerstitial abnormality Abnormality of the ankles Colonic diverticula Rectal prolapse Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Dysgraphia Arterial stenosis Abnormality of lipid metabolism Insomnia Renal agenesis Nephrolithiasis Progressive hearing impairment Cutis laxa Abnormality of the fingernails Abnormality of dental enamel Nephrocalcinosis Hemivertebrae Pointed chin Increased body weight Increased bone mineral density Narrow face Hoarse voice Gingival overgrowth Recurrent urinary tract infections Ischemic stroke Abnormal form of the vertebral bodies Open mouth Recurrent otitis media Small nail Renal hypoplasia Ventricular hypertrophy Type II diabetes mellitus Hypsarrhythmia Abnormality of extrapyramidal motor function Narrow forehead Abnormality of the cardiovascular system Dehydration Microdontia Widely spaced teeth Infantile muscular hypotonia Restlessness Chronic otitis media Facial cleft Prematurely aged appearance High hypermetropia Celiac disease Premature graying of hair Open bite Loss of consciousness Polyuria Glucose intolerance Tracheoesophageal fistula Hypoplastic toenails Abnormality of dental morphology Obsessive-compulsive behavior Nephritis Schizophrenia Abnormality of the voice Portal hypertension Precocious puberty Hypercalcemia Redundant skin Cholelithiasis Hypercalciuria Dysphonia Polycystic ovaries Incoordination Abnormality of pelvic girdle bone morphology Adducted thumb Reduced bone mineral density Frontal cortical atrophy


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