Edema, and Aortic valve stenosis

Diseases related with Edema and Aortic valve stenosis

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

Top matches:

SupraValvar Aortic Stenosis (SVAS) is characterized by the narrowing of the aorta lumen (close to its origin) or other arteries (branch pulmonary arteries, coronary arteries). This narrowing of the aorta or pulmonary branches may impede blood flow, resulting in heart murmur and ventricular hypertrophy (in case of aorta involvement). The narrowing results from a thickening of the artery wall, which is not related to atherosclerosis.

SUPRAVALVULAR AORTIC STENOSIS Is also known as supravalvar aortic stenosis, eisenberg type|svas

Related symptoms:

  • Intellectual disability
  • Abnormal facial shape
  • Edema
  • Arrhythmia
  • Pulmonic stenosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about SUPRAVALVULAR AORTIC STENOSIS

Related symptoms:

  • Ventricular septal defect
  • Edema
  • Atrial septal defect
  • Congestive heart failure
  • Abnormal heart morphology


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2

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

Other less relevant matches:

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

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

X-linked cardiac valvular dysplasia is a rare X-linked form of heart disease characterized by mitral and/or aortic valve regurgitation. Only males have been diagnosed as affected, while carrier females are asymptomatic. The histologic features do not differ from the common severe and idiopathic mitral valve prolapse.

CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 Is also known as valvular heart disease, congenital|xmvd|myxomatous valvular dystrophy, x-linked

Related symptoms:

  • Edema
  • Congestive heart failure
  • Abnormality of metabolism/homeostasis
  • Mitral valve prolapse
  • Mitral regurgitation


SOURCES: MESH OMIM MENDELIAN

More info about CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1

BRWS is a rare developmental phenotype characterized by the combination of hypertelorism, broad nose with large tip and prominent root, congenital nonmyopathic ptosis, ridged metopic suture, arched eyebrows, iris or retinal coloboma, sensorineural deafness, shoulder girdle muscle bulk and progressive joint stiffness, and pachygyria with anteroposterior severity gradient, rarely lissencephaly or neuronal heterotopia. Cleft lip and palate, hallux duplex, congenital heart defects and renal tract anomalies are seen in some cases. Microcephaly may develop with time. Early muscular involvement, occasionally with congenital arthrogryposis, may be present. Intellectual disability and epilepsy are variable in severity and largely correlate with central nervous system anomalies (summary by Verloes et al., 2015). Di Donato et al. (2014) and Verloes et al. (2015) suggested that BRWS, Fryns-Aftimos syndrome, and cerebrofrontofacial syndrome represent the same clinical entity. The phenotype is highly variable (summary by Cuvertino et al., 2017). Genetic Heterogeneity of Baraitser-Winter SyndromeBaraitser-Winter syndrome-2 (BRWS2 ) is caused by heterozygous mutation in the ACTG1 gene (OMIM ) on chromosome 17q25.

BARAITSER-WINTER SYNDROME 1; BRWS1 Is also known as cerebrofrontofacial syndrome|cofls|chromosome 7p22 deletion syndrome|cerebrooculofacial lymphatic syndrome|pachygyria, mental retardation, epilepsy, and characteristic facies|mental retardation with epilepsy and characteristic facies|iris coloboma with pt

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BARAITSER-WINTER SYNDROME 1; BRWS1

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

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

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Atrial septal defect Mitral regurgitation Pulmonic stenosis Muscular hypotonia Growth delay Abnormality of the skeletal system Bicuspid aortic valve Epicanthus Hearing impairment Coarse facial features Hepatosplenomegaly Global developmental delay Microcephaly Hypertelorism Cryptorchidism Feeding difficulties Chylothorax Abnormality of cardiovascular system morphology Strabismus Patent ductus arteriosus Feeding difficulties in infancy Postnatal growth retardation Sparse hair Broad forehead Leukemia Thick vermilion border Webbed neck Thrombocytopenia Low posterior hairline Bilateral ptosis Prominent fingertip pads Short neck Ptosis Abnormal heart morphology Tetralogy of Fallot Flexion contracture Hydrops fetalis Pulmonary artery stenosis Ventricular septal defect

Rare Symptoms - Less than 30% cases

Unilateral ptosis Hypertension High forehead Ventriculomegaly Anteverted nares Gastroesophageal reflux Cognitive impairment Talipes equinovarus Brachydactyly Polyhydramnios Cleft upper lip Pectus excavatum Decreased body weight Split hand Long philtrum Myopia Pectus carinatum Low-set, posteriorly rotated ears Abnormal bleeding Seizures Sensorineural hearing impairment Overfolded helix Mitral valve prolapse Abnormality of metabolism/homeostasis Lymphedema Wide intermamillary distance Triangular face Glaucoma Bruising susceptibility Low-set ears Acute lymphoblastic leukemia Joint hypermobility High palate Muscle weakness Motor delay Downslanted palpebral fissures Microphthalmia Dilatation Congestive heart failure Intellectual disability, severe Cardiomyopathy Hydrocephalus Respiratory distress Macrocephaly Hepatomegaly Depressed nasal bridge Arrhythmia Splenomegaly Pulmonary lymphangiectasia Lymphoma Aortic regurgitation Highly arched eyebrow Abnormality of the spleen Thick lower lip vermilion Weight loss Hip dysplasia Cafe-au-lait spot Coarctation of aorta Midface retrusion Pulmonary artery atresia Failure to thrive in infancy Pachygyria Cubitus valgus Pleural effusion Reduced factor XII activity Joint stiffness Abnormal pulmonary valve morphology Ascites Abnormality of the thorax Esotropia Inguinal hernia Posteriorly rotated ears Cholelithiasis Abnormal eyebrow morphology Neurodevelopmental delay Deep philtrum Decreased muscle mass Poor suck Proximal placement of thumb Torticollis Bilateral single transverse palmar creases Vasculitis Reduced factor XI activity Abnormal anterior segment morphology Periventricular leukomalacia Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Aplasia cutis congenita of scalp Porencephalic cyst Acrania Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Hypoplastic fingernail Abnormality of the lower limb Arteriovenous malformation Calvarial skull defect Double outlet right ventricle Imperforate hymen Aplasia cutis congenita over posterior parietal area Hyperpigmentation of the skin Abnormal lymphatic vessel morphology Fine hair Epistaxis Cyanosis Falls Astigmatism Abnormality of the foot Hypermetropia Joint laxity Macrotia Aplasia cutis congenita on trunk or limbs Abnormal atrial septum morphology Aplasia of lymphatic vessels Prominent forehead Myopathy Frontal bossing Gait disturbance Optic atrophy Delayed speech and language development Prominent digit pad Facial hypotonia Reduced factor X activity Hydrocele testis Curly hair Abnormality of the testis High anterior hairline Premature skin wrinkling Acute leukemia Thickened nuchal skin fold Abnormality of the mouth Aortic root aneurysm Thoracic scoliosis Male infertility Abnormality of refraction Abnormality of digit Cystic hygroma Atrioventricular canal defect Prolonged bleeding time Abnormality of coagulation Myopathic facies Melanocytic nevus Radioulnar synostosis Abnormality of the urinary system Abnormality of the helix Elevated circulating follicle stimulating hormone level Arnold-Chiari malformation Enlarged thorax Abnormal platelet function Reduced factor VIII activity Intestinal lymphangiectasia Abnormality of the mandible Prolonged QRS complex Multiple lentigines Abnormality of the lymphatic system Synovitis Abnormal hair quantity Abnormality of the pulmonary artery Redundant neck skin Myeloproliferative disorder Superior pectus carinatum Elevated circulating luteinizing hormone level Shield chest Thickened helices Prominent nasolabial fold Abnormal mitral valve morphology Amegakaryocytic thrombocytopenia Aplasia/Hypoplasia of the abdominal wall musculature Coarse hair Abnormal dermatoglyphics Short attention span Juvenile myelomonocytic leukemia Hypoplasia of lymphatic vessels Micrognathia Aplasia of the semicircular canal Nystagmus Scoliosis Abnormality of the subarachnoid space Hyperkeratosis pilaris Reduced prothrombin activity Hypoplasia of olfactory tract Abnormal location of ears Reduced factor IX activity Abnormality of the mediastinum Arteritis Monocytosis Morphological abnormality of the inner ear Broad toe Hypochromic microcytic anemia B-cell lymphoma Abnormal nipple morphology Oligodactyly Puberty and gonadal disorders Scapular winging Hypertrophic cardiomyopathy Hypogonadotrophic hypogonadism Amblyopia Abnormality of the genital system Otitis media Dental malocclusion High, narrow palate Joint hyperflexibility Delayed puberty Neurological speech impairment Hydronephrosis Neurofibrosarcoma Kyphoscoliosis Proptosis Hypogonadism Constipation Clinodactyly of the 5th finger Delayed skeletal maturation Clinodactyly Dysphagia Dysarthria Central hypotonia Cleft palate Aplasia cutis congenita Metaphyseal widening Obstructive sleep apnea Thoracic kyphosis Hypoplasia of the odontoid process Aseptic necrosis Spinal canal stenosis Abnormal heart valve morphology Metaphyseal irregularity Epiphyseal dysplasia Hypoplastic iliac wing Recurrent upper respiratory tract infections Sleep apnea Spastic tetraparesis Accelerated skeletal maturation Opacification of the corneal stroma Thickened skin Progressive neurologic deterioration Tetraparesis Dysostosis multiplex Ovoid vertebral bodies Spastic tetraplegia Dermatan sulfate excretion in urine Dystonia Wide nasal bridge Short chordae tendineae of the tricuspid valve Short chordae tendineae of the mitral valve Tricuspid regurgitation Anterior wedging of L2 Anterior wedging of L1 Hypoplastic acetabulae Cervical cord compression Disproportionate short-trunk short stature Cervical instability Cervical myelopathy Prominent sternum Retinal fold Myelopathy Constrictive median neuropathy Flared iliac wings Broad ribs Lumbar hyperlordosis Waddling gait Agenesis of corpus callosum Abnormality of the dentition Vomiting Calcification of the aorta Pulmonary edema Atopic dermatitis Inflammatory abnormality of the skin Dry skin Arthritis Hyperkeratosis Myxomatous mitral valve degeneration Lethargy Subvalvular aortic stenosis Aortic aneurysm Atrial fibrillation Supravalvular aortic stenosis Arterial stenosis Peripheral pulmonary artery stenosis Peripheral arterial stenosis Abnormality of the cardiovascular system Abnormality of the eye Dehydration Macroglossia Hypothyroidism Tetraplegia Hirsutism Genu valgum Dolichocephaly Corneal opacity Retinopathy Apnea Umbilical hernia Hernia Nephrolithiasis Kyphosis Elfin facies Medullary nephrocalcinosis Infantile hypercalcemia Polyuria Hypercalcemia Hypercalciuria Nephrocalcinosis Short nose Brachycephaly Cutaneous finger syndactyly Syndactyly Finger syndactyly Prominent nasal bridge Abnormal cardiac septum morphology Abnormality of the kidney EEG abnormality Osteopenia Cerebellar hypoplasia Alopecia Hypertonia Talipes Hypoplasia of the corpus callosum Intrauterine growth retardation Cataract Small posterior fossa Duplication of phalanx of hallux Small thenar eminence Facial edema U-Shaped upper lip vermilion Toe syndactyly Cirrhosis Retinal coloboma Meningitis Aplasia/Hypoplasia of the skin Cortical dysplasia Hypoplastic left heart Supernumerary nipple Cutis marmorata Portal hypertension Abnormality of the metacarpal bones Leukopenia Telangiectasia Polymicrogyria Encephalocele Hemiparesis Small nail Pulmonary arterial hypertension Nail dysplasia Gastrointestinal hemorrhage Premature birth Short distal phalanx of finger Congenital ptosis Widow's peak Hyperactivity Wide mouth Everted lower lip vermilion Iris coloboma Wide nose Oral cleft Smooth philtrum Arthrogryposis multiplex congenita Microtia Coloboma Abnormality of the pinna High myopia Camptodactyly Cleft lip Conductive hearing impairment Thin upper lip vermilion Retrognathia Mandibular prognathia Micropenis Cerebral cortical atrophy Bifid uvula Short palpebral fissure Depressed nasal tip Trigonocephaly Inverted nipples Esophageal atresia Protruding tongue Long palpebral fissure Abnormality of the sternum Tracheoesophageal fistula Chorioretinal coloboma Ectropion Redundant skin Hypertrichosis Abnormality of the outer ear Lissencephaly Spontaneous abortion Pointed chin Hoarse voice Low anterior hairline Postnatal microcephaly Heterotopia Abnormality of the vestibular nerve


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