Ventricular septal defect, and Esotropia

Diseases related with Ventricular septal defect and Esotropia

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and Esotropia that can help you solving undiagnosed cases.

Top matches:

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

ZTTK syndrome is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).

BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME Is also known as zttk multiple congenital anomalies-mental retardation syndrome|zhu-tokita-takenouchi-kim syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BRAIN MALFORMATIONS-MUSCULOSKELETAL ABNORMALITIES-FACIAL DYSMORPHISM-INTELLECTUAL DISABILITY SYNDROME

Low match MEND SYNDROME

MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Other less relevant matches:

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011).Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.Hydrolethalus-2 (HLS2 ) is an allelic disorder with a more severe phenotype and death in utero.

ACROCALLOSAL SYNDROME; ACLS Is also known as hallux duplication, postaxial polydactyly, and absence of corpus callosum|schinzel acrocallosal syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ACROCALLOSAL SYNDROME; ACLS

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

Growth delay due to IGF-I resistance is characterised by variable intrauterine and postnatal growth retardation and elevated serum IGF-I levels. Addition features include variable degrees of intellectual deficit, microcephaly and dysmorphism (broad nasal bridge and tip, smooth philtrum, thin upper and everted lower lips, short fingers, clinodactyly, wide-set nipples and pectus excavatum).

GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE Is also known as igf-i resistance|resistance to igf-1|somatomedin, end-organ insensitivity to|somatomedin-c, resistance to

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GROWTH DELAY DUE TO INSULIN-LIKE GROWTH FACTOR I RESISTANCE

Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Esotropia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Very Common - Between 80% and 100% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Ventricular septal defect and Esotropia. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hypoplasia of the corpus callosum

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Abnormal heart morphology

Uncommon Symptoms - Between 30% and 50% cases

Short stature

Common Symptoms - More than 50% cases

Cleft palate

Uncommon Symptoms - Between 30% and 50% cases

High palate

Common Symptoms - More than 50% cases

Abnormality of cardiovascular system morphology

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive

Common Symptoms - More than 50% cases

Ventriculomegaly

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Abnormal cardiac septum morphology

Common Symptoms - More than 50% cases

Wide nasal bridge

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism Hearing impairment Patent ductus arteriosus Syndactyly Micrognathia Frontal bossing Downslanted palpebral fissures Narrow mouth Tetralogy of Fallot Brachydactyly Agenesis of corpus callosum Microcephaly Postnatal growth retardation Depressed nasal bridge Cognitive impairment Nystagmus Muscular hypotonia Scoliosis Deeply set eye Hypertonia Microphthalmia Hydrocephalus Toe syndactyly Atrial septal defect Prominent forehead Smooth philtrum Posteriorly rotated ears Short philtrum Unilateral renal agenesis Cerebral cortical atrophy Cryptorchidism Microretrognathia Thin vermilion border Iris coloboma Flexion contracture Ptosis Aplasia/Hypoplasia of the corpus callosum Wide intermamillary distance Optic atrophy Coloboma Epicanthus Macrocephaly Talipes equinovarus Cataract Telecanthus Intellectual disability, severe Hydronephrosis Short nose Congestive heart failure Cerebellar hypoplasia Long philtrum Dilatation Perimembranous ventricular septal defect Inguinal hernia Abnormality of the skeletal system Cleft upper lip Pulmonic stenosis Abnormality of the kidney Hip dislocation Bicuspid aortic valve Patent foramen ovale Autism Hypothyroidism Coarctation of aorta Fever Finger syndactyly Motor delay Retrognathia Behavioral abnormality Abnormality of the dentition Thin upper lip vermilion

Rare Symptoms - Less than 30% cases

Sparse scalp hair Sensorineural hearing impairment Overlapping fingers Ectopic kidney Blue sclerae Webbed neck Accelerated skeletal maturation Bulbous nose Aortic valve stenosis Dandy-Walker malformation Sandal gap Long face Prominent nasal bridge Muscular hypotonia of the trunk Small face Esodeviation Polydactyly Short neck Midface retrusion Pectus carinatum Microtia Low posterior hairline Amblyopia Delayed eruption of teeth Clinodactyly Everted lower lip vermilion Intrauterine growth retardation Hypospadias Hernia Hypertension Hypoplasia of teeth Umbilical hernia Renal agenesis Highly arched eyebrow Abnormality of the pinna Tapered finger Bifid uvula Open mouth Finger clinodactyly Abnormal pulmonary valve morphology Osteopenia Anxiety Intellectual disability, moderate Talipes Polymicrogyria Short distal phalanx of finger Meningitis Supernumerary nipple Pes planus Pulmonary artery stenosis Clinodactyly of the 5th finger Delayed speech and language development Obesity Pectus excavatum Delayed skeletal maturation Absent speech Thrombocytopenia Pulmonary arterial hypertension Cutaneous syndactyly Visual impairment Respiratory distress Cutaneous finger syndactyly Narrow forehead Depressivity Recurrent infections Joint laxity Joint hypermobility Immunodeficiency Craniosynostosis Short foot Small hand Hypocalcemia Arachnodactyly Facial asymmetry Abnormality of the cerebral white matter Exotropia Hypermetropia Autistic behavior Cardiomegaly Arachnoid cyst Sparse eyebrow Constipation 2-3 toe syndactyly Relative macrocephaly Periventricular leukomalacia Microdontia Myopia Deep palmar crease Restrictive ventilatory defect 11 pairs of ribs Generalized osteoporosis Bilateral talipes equinovarus Thoracic hypoplasia Congenital glaucoma Talipes equinovalgus Multiple joint dislocation Endocardial fibroelastosis Narrow nasal bridge Knee dislocation Upper limb undergrowth Lumbar scoliosis Aortic root aneurysm Abnormality of the abdominal wall Abnormally large globe Intestinal atresia Shoulder dislocation Macrotia Dehydration Febrile seizures Focal-onset seizure Otitis media Vesicoureteral reflux Brain atrophy Abdominal distention Falls Neurological speech impairment Camptodactyly of finger High forehead Hypertropia Mandibular prognathia Diarrhea Vomiting Pain Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Metatarsus adductus Accessory carpal bones Enlarged metaphyses Abnormal lung morphology Spondyloepiphyseal dysplasia Maternal diabetes Increased serum insulin-like growth factor 1 Burkitt lymphoma Hypoplastic facial bones Prominent scalp veins Rieger anomaly Broad finger Encephalopathy Abnormality of the rib cage Arrhythmia Severe failure to thrive Osteoporosis Severe intrauterine growth retardation Multiple cafe-au-lait spots Reduced subcutaneous adipose tissue Truncal obesity Delayed cranial suture closure High pitched voice Agitation Radial deviation of finger Lipodystrophy Pterygium Anteverted nares Brachycephaly Radioulnar synostosis Congenital diaphragmatic hernia Hyperextensible skin Cutis laxa Joint dislocation Elbow flexion contracture Lymphedema Rhizomelia Left ventricular hypertrophy Fine hair Mitral regurgitation Dysphagia Mitral valve prolapse Glaucoma Short metacarpal Recurrent fractures Thick eyebrow Flat face Genu valgum Abnormality of the foot Narrow chest Myopathy Kyphoscoliosis Proptosis Sloping forehead Poor suck Recurrent otitis media Autoimmune hemolytic anemia Tetany Myelomeningocele Truncus arteriosus Sclerocornea Meningocele Hypoparathyroidism Vitiligo Bipolar affective disorder Posterior embryotoxon Autoimmune thrombocytopenia Inflammation of the large intestine Seborrheic dermatitis Acne Psoriasiform dermatitis Rheumatoid arthritis Cholelithiasis Nasal speech Arnold-Chiari malformation Schizophrenia Purpura Spina bifida Broad thumb Renal dysplasia Juvenile rheumatoid arthritis Anterior segment developmental abnormality Short palpebral fissure Vascular tortuosity Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Esophoria Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Conotruncal defect Abnormality of the thymus Hypoplasia of the thymus Abnormality of the middle ear Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Right aortic arch Alcoholism Femoral hernia Interrupted aortic arch Graves disease Aplasia of the uterus Primary amenorrhea Amenorrhea Abnormality of the genital system Hallux valgus Bruxism Abnormality of the gastrointestinal tract Tracheal stenosis Misalignment of teeth Chronic constipation Low hanging columella Abnormal eyebrow morphology External ear malformation Drowsiness Submucous cleft hard palate Rocker bottom foot Broad hallux phalanx Cupped ear Bifid scrotum Aplasia/Hypoplasia of the cerebellum Pyloric stenosis Abnormality of the genitourinary system Drooling Widely spaced teeth Absence seizures Pointed chin Postnatal microcephaly Aganglionic megacolon Large earlobe Broad columella Specific learning disability Neoplasm Chorea High, narrow palate Hemolytic anemia Astigmatism Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Autoimmunity Blepharophimosis Cleft lip Arthritis Anemia Aplasia/Hypoplasia of the cerebral white matter Prominent nasal tip Pulmonary artery sling Large basal ganglia Abnormal morphology of the hippocampus Abnormal eye morphology Generalized muscle hypertrophy Uplifted earlobe Atypical absence seizures Happy demeanor Deep plantar creases Subglottic stenosis Broad eyebrow Acanthosis nigricans Carious teeth Pneumonia Genu varum Lens luxation Short upper lip Colpocephaly Profound global developmental delay Frontal balding Neurogenic bladder Congenital nystagmus Bowing of the legs Chorioretinal coloboma Aortic aneurysm Abnormality of dental color Scleral staphyloma Abnormal palate morphology Aortic regurgitation Short chin Short toe Dental crowding Thick lower lip vermilion Intellectual disability, profound Bilateral sensorineural hearing impairment Progressive visual loss Convex nasal ridge Lop ear Short 2nd toe Prominent nose Broad forehead Omphalocele Ventricular fibrillation Postaxial hand polydactyly Multiple joint contractures Retinal dystrophy Postaxial polydactyly Prolonged QT interval Anal atresia Severe global developmental delay Mixed hearing impairment Bronchitis Posterior staphyloma Apnea Protruding tongue Micropenis Amelogenesis imperfecta Hypothermia Torsade de pointes Cutaneous syndactyly of toes Cerebral atrophy Biventricular hypertrophy Ataxia T-wave alternans Microcornea Preauricular skin tag Hemivertebrae Overfolded helix Sacral dimple Abnormality of the ribs Narrow palpebral fissure Cerebral visual impairment Horseshoe kidney Hypopigmentation of the skin Single transverse palmar crease Thick vermilion border Wide nose Severe muscular hypotonia Overlapping toe Ichthyosis Infantile muscular hypotonia Low-set, posteriorly rotated ears Aggressive behavior Skeletal dysplasia Polyhydramnios Abnormality of coagulation Hyperactivity Curly hair Soft skin Self-injurious behavior Broad hallux Atrioventricular dissociation Visual loss Abnormal direction of ventricular apex Joint hyperflexibility Dolichocephaly Corneal opacity Feeding difficulties Mental deterioration Cerebellar atrophy Kyphosis Coarse facial features Gait ataxia Developmental regression Long fingers Protruding ear Intellectual disability, mild Spasticity Olivopontocerebellar hypoplasia Hypoplastic aortic arch Spotty hypopigmentation Long neck Otosclerosis Full cheeks Narrow nose Epiphyseal stippling Wide anterior fontanel Spontaneous abortion Cafe-au-lait spot Congenital hepatic fibrosis Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Venous malformation Absent fingernail Absent hand Aplastic/hypoplastic toenail Chylothorax Aplasia cutis congenita of scalp Porencephalic cyst Esophageal varix Acrania Abnormality of the upper limb Pulmonary artery atresia Hypoplastic fingernail Abnormality of the lower limb Arteriovenous malformation Calvarial skull defect Double outlet right ventricle Central hypotonia Oligodactyly Aplasia cutis congenita Imperforate hymen Aplasia cutis congenita over posterior parietal area Cortical dysplasia Short palm Decreased body weight Gastroesophageal reflux Hypoglycemia Epidermal acanthosis Type II diabetes mellitus Hypertrophic cardiomyopathy Lymphoma Broad nasal tip Triangular face Inability to walk Synophrys Aplasia cutis congenita on trunk or limbs Small for gestational age Diabetes mellitus Upslanted palpebral fissure Severe short stature Coma Hypoplasia of the maxilla Sudden cardiac death Malar flattening Syncope Round face Aplasia/Hypoplasia of the skin Hypoplastic left heart Obsessive-compulsive behavior Preaxial foot polydactyly Pulmonary valve defects Intracranial cystic lesion Bifid distal phalanx of the thumb Duplication of thumb phalanx Duplication of phalanx of hallux Cerebral hypoplasia Atrioventricular block Triangular mouth Hypopigmentation of the fundus Rectovaginal fistula Diastasis recti Ventricular arrhythmia Postaxial foot polydactyly Anencephaly Abnormality of digit Partial agenesis of the corpus callosum External genital hypoplasia Molar tooth sign on MRI Prominent occiput Diabetes insipidus Preaxial hand polydactyly Preaxial polydactyly Optic nerve hypoplasia Alopecia Cutis marmorata Hypoplasia of dental enamel Portal hypertension Abnormality of the metacarpal bones Leukopenia Abnormality of the face Telangiectasia Pachygyria Encephalocele Split hand Hemiparesis Small nail Nail dysplasia Ventricular tachycardia Gastrointestinal hemorrhage Premature birth Ascites Sinusitis Bradycardia Cirrhosis Cardiac arrest Leukemia Sparse hair Abnormality of dental enamel EEG abnormality Type I truncus arteriosus


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