Hearing impairment, and Aortic valve stenosis

Diseases related with Hearing impairment and Aortic valve stenosis

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

Top matches:

VCRL1 is an autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. Additional features are variable (summary by Shi et al., 2017). Genetic Heterogeneity of vertebral, cardiac, renal, and limb defects syndromeSee also VCRL2 (OMIM ), caused by mutation in the KYNU gene (OMIM ) on chromosome 2q22.

VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1 Is also known as 3-hydroxyanthranilic acidemia|congenital nad deficiency disorder 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 1; VCRL1

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

Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Other less relevant matches:

Low match SCHEIE SYNDROME

Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

SCHEIE SYNDROME Is also known as mps v, formerly|mucopolysaccharidosis type 1s|mps5, formerly|mps1-s|mps1s|mucopolysaccharidosis type v, formerly|mpsis|mucopolysaccharidosis type is

Related symptoms:

  • Sensorineural hearing impairment
  • Visual impairment
  • Depressed nasal bridge
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHEIE SYNDROME

Mucopolysaccharidosis type IVB is an autosomal recessive disorder characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal. There is increased urinary keratan sulfate excretion (Suzuki et al., 2001).See mucopolysaccharidosis type IVA (OMIM ), also known as Morquio syndrome A, a genetically distinct disorder with overlapping clinical features caused by mutation in the GALNS gene (OMIM ) on chromosome 16q24.There may also be a nonkeratansulfate-excreting form of Morquio syndrome, so-called type C (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B Is also known as morquio syndrome b|mps ivb

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

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

Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

EHLERS-DANLOS SYNDROME, PROGEROID TYPE Is also known as pds, defective biosynthesis of|ehlers-danlos syndrome with short stature and limb anomalies|edsp1, formerly|eds, progeroid type|xgpt deficiency|dermatan sulfate proteoglycan|proteodermatan sulfate, defective biosynthesis of|edssla|xylosylprotein 4-beta-ga

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, PROGEROID TYPE

CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHST3-RELATED SKELETAL DYSPLASIA

Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Top 5 symptoms//phenotypes associated to Hearing impairment and Aortic valve stenosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Mitral stenosis Uncommon - Between 30% and 50% cases
Genu valgum Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Corneal opacity Scoliosis Inguinal hernia Kyphosis Skeletal dysplasia Hepatomegaly Pulmonic stenosis Short neck Pectus excavatum Aortic regurgitation Sensorineural hearing impairment Abnormal facial shape Cryptorchidism Disproportionate short-trunk short stature Respiratory distress Congestive heart failure Osteoporosis Splenomegaly Severe short stature Joint laxity Hernia Dysostosis multiplex Mandibular prognathia Cleft palate Abnormality of the skeletal system Coarse facial features Depressed nasal bridge Kyphoscoliosis Opacification of the corneal stroma Abnormality of cardiovascular system morphology Seizures Growth delay Mitral regurgitation Microcephaly Flexion contracture

Rare Symptoms - Less than 30% cases

Spondyloepiphyseal dysplasia Coxa valga Metaphyseal widening Ulnar bowing Recurrent upper respiratory tract infections Hypoplasia of the odontoid process Widely spaced teeth Sleep apnea Platyspondyly Hyperlordosis Glaucoma Obstructive sleep apnea Abnormality of the nervous system Apnea Joint stiffness Pain Wide mouth Cervical cord compression Constrictive median neuropathy Syncope Ovoid vertebral bodies Arrhythmia Prominent sternum Alopecia Broad forehead Microtia Low-set ears Epicanthus Pes planus Cardiomyopathy Intellectual disability, mild Talipes equinovarus Bowing of the long bones Conductive hearing impairment Macrocephaly Pectus carinatum Triangular face Motor delay Spina bifida occulta Cubitus valgus Bilateral cryptorchidism Dermal translucency Sparse and thin eyebrow Cervical myelopathy Hip dislocation Ptosis Hypertension Dilatation Hypospadias Lumbar hyperlordosis Hypothyroidism Arthralgia Umbilical hernia Joint hyperflexibility Epiphyseal dysplasia Arachnodactyly Overgrowth Elbow dislocation Congenital diaphragmatic hernia Sparse eyebrow Cutis laxa Accelerated skeletal maturation Joint dislocation Waddling gait Full cheeks Abnormal heart valve morphology Pes cavus Brachycephaly Heart murmur Midface retrusion Ventricular hypertrophy Failure to thrive Muscular hypotonia Strabismus Hydrocephalus Decreased body weight Abnormal mitral valve morphology Thoracic kyphosis Everted lower lip vermilion Talipes Mutism Vesicoureteral reflux Macroglossia Highly arched eyebrow Depressivity Hepatosplenomegaly Bifid uvula Abnormal aortic valve morphology Sparse scalp hair Fine hair Spastic tetraplegia Blue sclerae Hip dysplasia Cutaneous photosensitivity Nevus Elbow flexion contracture Thin skin Hallux valgus Tetraplegia Edema Limited hip extension Curly hair Multiple carpal ossification centers Deviation of the 5th finger Fixed elbow flexion Atrophic scars Bowing of the legs Intellectual disability, severe Sparse eyelashes Retinopathy Dolichocephaly Lipodystrophy Radioulnar synostosis Hyperextensible skin Hirsutism Bruising susceptibility Single transverse palmar crease Progressive neurologic deterioration Flat face Aplasia of the ovary Skeletal muscle atrophy Retinal fold Wide nasal bridge Cervical instability Dermatan sulfate excretion in urine Hypoplastic acetabulae Generalized hypotonia Coronary artery aneurysm Flared iliac wings Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Delayed menarche Anterior wedging of L1 Parietal bossing Multiple lentigines Limited elbow movement Myelopathy Broad ribs Tetraparesis Telecanthus Joint hypermobility Abnormality of skin pigmentation Narrow chest Hypermetropia Intervertebral disc degeneration Split hand Scarring Thickened skin Spastic tetraparesis Hypoplastic iliac wing Osteopenia Metaphyseal irregularity Spinal canal stenosis Proptosis Aseptic necrosis Narrow mouth Prominent forehead Abnormality of the dentition Generalized bone demineralization Short clavicles Tricuspid stenosis Ventricular septal defect Tibial bowing Vertebral fusion Thin ribs Arthropathy Short humerus Delayed skeletal maturation Long philtrum Hyposmia Short thorax Brachydactyly High palate Palmoplantar cutis gyrata Abnormality of primary teeth Irregular vertebral endplates Facial wrinkling Phalangeal dislocation Testicular torsion Limited elbow extension Short femoral neck Slender toe Pulmonary arterial hypertension Hypoplasia of the ulna Tricuspid regurgitation Delayed gross motor development Bilateral single transverse palmar creases Spina bifida Rhizomelia Abnormal form of the vertebral bodies Limb undergrowth Arthritis Microdontia Wide intermamillary distance Short metacarpal Delayed eruption of teeth Short distal phalanx of finger Thick eyebrow Camptodactyly of finger Camptodactyly Abnormality of the elbow Soft, doughy skin Anisospondyly Progeroid facial appearance Long toe Poor wound healing Shoulder dislocation Sclerotic vertebral endplates Small face Generalized osteoporosis Varicose veins Mild global developmental delay Knee dislocation Periodontitis Atypical scarring of skin Gingivitis Genu recurvatum Bilateral talipes equinovarus Narrow vertebral interpedicular distance Proportionate short stature Intervertebral space narrowing Multiple joint dislocation Decreased hip abduction Barrel-shaped chest Small epiphyses Large joint dislocations Prominent scalp veins Advanced ossification of carpal bones Flat forehead High anterior hairline Absent earlobe Short 4th metacarpal Enlarged joints Shield chest Abnormality of the carpal bones Irregular epiphyses Talipes equinovalgus Forearm undergrowth Coronal cleft vertebrae Hypoplasia of the capital femoral epiphysis Flattened epiphysis Frontal upsweep of hair Spinal deformities Subvalvular aortic stenosis Progressive sensorineural hearing impairment Angina pectoris Dry skin Communicating hydrocephalus Abnormal EKG Exertional dyspnea Cachexia Oculomotor apraxia Horizontal nystagmus Pancytopenia Cardiomegaly Ophthalmoplegia Foam cells Generalized tonic-clonic seizures Pallor Hyporeflexia Hypertonia Spasticity Cerebral cortical hemiatrophy Conotruncal defect Subcortical cerebral atrophy Supranuclear gaze palsy Abnormality of the pulmonary artery Abnormality of the testis Calcification of the aorta Aortic arch calcification Abnormal common carotid artery morphology Hypometric horizontal saccades Slowed horizontal saccades Cardiac valve calcification Abnormality of toe Decreased beta-glucocerebrosidase protein and activity Bacterial endocarditis Elevated serum acid phosphatase Abnormal aortic morphology Abnormal aortic arch morphology Spontaneous, recurrent epistaxis Supranuclear ophthalmoplegia Mitral valve calcification Corneal crystals Abnormal saccadic eye movements Aortic valve calcification Reticular hyperpigmentation Femoral hernia Echolalia Visual impairment Laryngotracheomalacia Renal insufficiency Short nose Behavioral abnormality Anteverted nares Ventriculomegaly Feeding difficulties Laryngeal web Hypoplastic sacrum Absence of the sacrum Agenesis of corpus callosum Spinal dysraphism Butterfly vertebrae Tethered cord Lipoma Tracheomalacia Hypoplastic left heart Renal hypoplasia Atrial septal defect Obesity Cerebral cortical atrophy Epileptic spasms Coarctation of aorta Protruding tongue Absent septum pellucidum Dysphasia Aphasia Flat occiput Apathy Absence seizures Status epilepticus Hypoplasia of penis Autism Tetralogy of Fallot Specific learning disability Sleep disturbance Downturned corners of mouth Synophrys Abnormal cardiac septum morphology Irritability Anxiety Cardiovascular calcification Retinal degeneration Missing ribs Vascular tortuosity Fatigue Delayed speech and language development Neoplasm Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Supravalvular aortic stenosis Congenital hemolytic anemia Ascending tubular aorta aneurysm Abnormal heart morphology Arterial stenosis Ileus Bladder diverticulum Cor pulmonale Atelectasis Premature skin wrinkling Pulmonary artery stenosis Shawl scrotum Respiratory insufficiency Posteriorly rotated ears Delayed cranial suture closure Abnormality of the genital system Heart block Multiple cafe-au-lait spots Severe hearing impairment Bundle branch block Unilateral renal agenesis Pterygium Scapular winging Cafe-au-lait spot Depressed nasal ridge Hyperkeratosis Myocardial infarction Webbed neck Chest pain Delayed puberty Protruding ear Hypertrophic cardiomyopathy Neonatal hypotonia Micropenis Prematurely aged appearance Emphysema Wide nose Spondylolisthesis Restrictive ventilatory defect Abnormal vertebral morphology Carious teeth Tricuspid atresia Urinary glycosaminoglycan excretion Abnormal nerve conduction velocity Mucopolysacchariduria Abnormality of peripheral nerve conduction Broad face Hip pain Spinal cord compression Rhinitis Stridor Cerebral palsy Spastic paraparesis Situs inversus totalis Limitation of joint mobility Thick vermilion border Thoracolumbar kyphosis Ulnar deviation of the wrist Aortic aneurysm Hemolytic anemia Redundant skin Shock Wormian bones Abnormality of the face Recurrent urinary tract infections Bilateral sensorineural hearing impairment Oligohydramnios Recurrent fractures Recurrent respiratory infections Decreased beta-galactosidase activity Anemia Intimal thickening in the coronary arteries Pointed proximal second through fifth metacarpals Constricted iliac wings Epiphyseal deformities of tubular bones Keratan sulfate excretion in urine Grayish enamel Flaring of rib cage Cervical subluxation Anterior wedging of L2


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Parkinsonism, related diseases and genetic alterations Rod-cone dystrophy and Coloboma, related diseases and genetic alterations Melanoma and Proteinuria, related diseases and genetic alterations Intellectual disability, severe and Hypodontia, related diseases and genetic alterations Muscular hypotonia and Polycystic kidney dysplasia, related diseases and genetic alterations