Ventricular septal defect, and Paralysis

Diseases related with Ventricular septal defect and Paralysis

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


Top matches:

Low match PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1


Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Low match TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Low match X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY


X-linked cerebral adrenoleukodystrophy (X-CALD), a subtype of X-linked adrenoleukodystrophy (X-ALD, see this term), is a peroxisomal disease characterized by severe inflammatory demyelination in the brain, and often associated with adrenal insufficiency.

X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY Is also known as siemerling-creutzfeldt disease|addison disease and cerebral sclerosis|bronze schilder disease|melanodermic leukodystrophy

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED CEREBRAL ADRENOLEUKODYSTROPHY

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Other less relevant matches:

Low match DYSOSTEOSCLEROSIS


Dysosteosclerosis is a skeletal dysplasia characterized by progressive osteosclerosis and platyspondyly.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about DYSOSTEOSCLEROSIS

Low match ENCEPHALOCRANIOCUTANEOUS LIPOMATOSIS


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

Low match ROBERTS SYNDROME; RBS


Roberts syndrome is a rare autosomal recessive disorder characterized by tetraphocomelia (symmetrical limb reduction), craniofacial anomalies, growth retardation, mental retardation, and cardiac and renal abnormalities (summary by Goh et al., 2010).

ROBERTS SYNDROME; RBS Is also known as long bone deficiencies associated with cleft lip-palate

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about ROBERTS SYNDROME; RBS

Low match CODAS SYNDROME


Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies.

CODAS SYNDROME Is also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome|cerebrooculodentoauriculoskeletal syndrome

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about CODAS 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 KABUKI SYNDROME 1; KABUK1


Kabuki syndrome is a congenital mental retardation syndrome with additional features, including postnatal dwarfism, a peculiar facies characterized by long palpebral fissures with eversion of the lateral third of the lower eyelids (reminiscent of the make-up of actors of Kabuki, a Japanese traditional theatrical form), a broad and depressed nasal tip, large prominent earlobes, a cleft or high-arched palate, scoliosis, short fifth finger, persistence of fingerpads, radiographic abnormalities of the vertebrae, hands, and hip joints, and recurrent otitis media in infancy (Niikawa et al., 1981). Genetic HeterogeneityKabuki syndrome-2 (OMIM ) is caused by mutation in the KDM6A gene (OMIM ) on chromosome Xp11.3.

KABUKI SYNDROME 1; KABUK1 Is also known as kabuki syndrome|kabuki make-up syndrome|kms|niikawa-kuroki syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KABUKI SYNDROME 1; KABUK1

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Short stature Abnormality of the skeletal system Clinodactyly Scoliosis Generalized hypotonia Patent ductus arteriosus Skeletal dysplasia Brachydactyly High palate Micrognathia Abnormal heart morphology Cleft palate Hypoplasia of the corpus callosum Pneumonia Broad forehead Failure to thrive Coarctation of aorta Delayed speech and language development Ventriculomegaly Hydrocephalus Polyhydramnios Hemiparesis Cataract Posteriorly rotated ears Flexion contracture Microcephaly Coloboma Low-set ears Hydronephrosis Wide nasal bridge Cerebral calcification Ptosis Delayed eruption of teeth Abnormal cardiac septum morphology Hypertelorism Abnormal facial shape Epicanthus Macrocephaly Anal atresia Growth delay Abnormality of the dentition

Rare Symptoms - Less than 30% cases


Corneal opacity Broad ribs Prominent forehead Nystagmus Anal stenosis Aortic valve stenosis Osteolysis Frontal bossing Abnormality of the metaphysis Microphthalmia Craniofacial hyperostosis Increased bone mineral density Abnormality of dental enamel Increased susceptibility to fractures Natal tooth Osteopetrosis Neoplasm Rough bone trabeculation Sclerosis of skull base Delayed closure of the anterior fontanelle Facial paralysis Aphasia Mutism Intestinal malrotation Dysphasia Flat face Abnormal vertebral morphology Muscular hypotonia Depressed nasal bridge Anteverted nares Conductive hearing impairment Intellectual disability, moderate Abnormality of the pinna Microdontia Fibular hypoplasia Omphalocele Congenital hip dislocation Overfolded helix Hydroureter Intellectual disability, mild Dilatation Severe short stature Hypothyroidism Strabismus Horseshoe kidney Eyelid coloboma Syndactyly Echolalia Subvalvular aortic stenosis Epibulbar dermoid Hemiatrophy Dental malocclusion Downslanted palpebral fissures Talipes equinovarus Short neck Brachycephaly Cafe-au-lait spot Retrognathia Cleft lip Abnormality of the kidney Craniosynostosis Short philtrum Cleft upper lip Oligohydramnios Blue sclerae Hypospadias Postnatal growth retardation Blindness Respiratory tract infection Spasticity Abnormality of cardiovascular system morphology Clinodactyly of the 5th finger Proptosis Behavioral abnormality Interrupted aortic arch Hernia Joint laxity Thrombocytopenia Increased body weight Preauricular pit Axonal degeneration Dolichocephaly Visual loss Thin vermilion border Recurrent respiratory infections Respiratory distress Anemia Muscle weakness Immunodeficiency Cognitive impairment Broad nasal tip High, narrow palate Thick vermilion border Long face Arachnodactyly Paraparesis Ophthalmoplegia Microtia Hyperlordosis Apnea Facial palsy High forehead Gastroesophageal reflux Areflexia Pectus excavatum Headache Long philtrum Camptodactyly Webbed neck Bifid uvula Spontaneous abortion Delayed cranial suture closure Hyperostosis Flat occiput Nephroblastoma Metaphyseal widening Pyloric stenosis Nasal speech Cutaneous syndactyly Holoprosencephaly Spina bifida occulta Microretrognathia Narrow palate Multicystic kidney dysplasia Respiratory insufficiency Spina bifida Joint contracture of the hand Skeletal muscle atrophy Dental crowding Large fontanelles Aganglionic megacolon Open mouth Thick lower lip vermilion Lumbar hyperlordosis Narrow forehead Specific learning disability Wide intermamillary distance Abnormality of the skin Respiratory failure Laryngeal obstruction Myopathy Recurrent pneumonia Short long bone Drooling Short chin Short phalanx of finger Abnormality of epiphysis morphology Hypoplasia of dental enamel Muscular hypotonia of the trunk Abnormal form of the vertebral bodies Decreased fetal movement Hip dysplasia Short metacarpal Generalized muscle weakness Tetraparesis Joint hyperflexibility Abnormality of pelvic girdle bone morphology Genu valgum Congenital cataract Hypermetropia Hip dislocation Spinal muscular atrophy EMG: neuropathic changes Delayed skeletal maturation Short nose Proximal amyotrophy Tongue fasciculations Hypertension Decreased number of large peripheral myelinated nerve fibers Degeneration of anterior horn cells CNS hypomyelination Bilateral ptosis Intellectual disability, severe Thin eyebrow Pain Absent epiphyses Visual field defect Extrahepatic biliary duct atresia Crumpled ear Broad skull Hypoplastic helices Squared iliac bones Lumbar scoliosis Midline defect of the nose Vocal cord paresis Pes valgus Delayed ossification of carpal bones Coronal cleft vertebrae Epiphyseal dysplasia Complete atrioventricular canal defect Abnormality of the larynx Rectovaginal fistula Delayed epiphyseal ossification Hypoplasia of the odontoid process Prominent metopic ridge Short humerus Metaphyseal dysplasia Atrioventricular canal defect Umbilical hernia Spondyloepiphyseal dysplasia Abnormality of dental morphology Proximal placement of thumb Proximal muscle weakness Hypoplastic left heart Tracheomalacia Mixed hearing impairment Severe hearing impairment Short columella Patellar dislocation Vitiligo Scaphocephaly Overweight Hashimoto thyroiditis Autoimmune thrombocytopenia IgA deficiency Thyroiditis Congenital hypothyroidism Autoimmune hemolytic anemia Cerebellar vermis atrophy Transposition of the great arteries Long palpebral fissure Short 5th finger Celiac disease Right bundle branch block Bundle branch block Bilateral cryptorchidism Cupped ear Precocious puberty Brittle hair Failure to thrive in infancy Poor suck Abnormality of the urinary system Abnormal dermatoglyphics Purpura Hyperbilirubinemia Depressed nasal tip Retinal coloboma Long eyelashes Common atrium Anoperineal fistula Nocturnal lagophthalmos Vertical orbital dystopia Pilonidal sinus Short nasal septum Eversion of lateral third of lower eyelids Premature thelarche Prominent eyelashes Liver abscess Sclerosing cholangitis Single ventricle Crossed fused renal ectopia Anorectal anomaly Vertebral clefting Mitral stenosis Abnormality of the middle ear Recurrent aspiration pneumonia Prominent fingertip pads Biliary atresia Bronchomalacia Diaphragmatic eventration Ureteropelvic junction obstruction Recurrent ear infections Anterior plagiocephaly Trichorrhexis nodosa Broad philtrum Small face Cholangitis Optic nerve coloboma Sparse and thin eyebrow Renal dysplasia Partial agenesis of the corpus callosum Broad clavicles Feeding difficulties Paranasal sinus hypoplasia Straight clavicles Metaphyseal striations Osteopathia striata Facial hyperostosis High iliac wings Unilateral facial palsy Laryngeal web Craniofacial osteosclerosis Large iliac wings Laryngotracheomalacia Alobar holoprosencephaly Flexion contracture of toe Diarrhea Asymmetry of the thorax Thoracolumbar kyphosis Otosclerosis Fibular aplasia White forelock Large forehead Thoracic dysplasia Ectopic anus Misalignment of teeth Pierre-Robin sequence Ankylosis Submucous cleft hard palate Thickened calvaria Myopia Kyphosis Heterotopia Polymicrogyria Recurrent otitis media Small nail Congenital diaphragmatic hernia Otitis media Growth hormone deficiency Decreased antibody level in blood Prominent nose Hypodontia Single transverse palmar crease Highly arched eyebrow Hemolytic anemia Hirsutism Wide nose Joint hypermobility Renal insufficiency Astigmatism Malabsorption Autoimmunity Protruding ear Feeding difficulties in infancy Anxiety Hypoglycemia Jaundice Pes planus Macrotia Micropenis Depressivity Obesity Recurrent infections Proximal muscle weakness in lower limbs Intermittent thrombocytopenia Sensorineural hearing impairment Abducens palsy Sclerotic scapulae Abnormal metaphyseal trabeculation Clavicular sclerosis Short diaphyses Absent paranasal sinuses Optic nerve compression Cranial nerve compression Parietal bossing Delayed eruption of primary teeth Absent frontal sinuses Encephalopathy Hypoplastic vertebral bodies Vertebral hypoplasia Increased intervertebral space Narrow iliac wings Diaphyseal thickening Broad femoral neck Short sternum Dementia Hypogonadism Hyperactivity Gait ataxia Reduced visual acuity Abnormal cranial nerve morphology Obstructive sleep apnea Irregular vertebral endplates Premature loss of teeth Sclerosis of hand bone Progressive bowing of long bones Thin ribs Hypotrichosis Pulmonary valve atresia Muscle stiffness Tetralogy of Fallot with absent pulmonary valve Subcutaneous nodule Abnormality of the face Pulmonary arterial hypertension Intellectual disability, profound Absence of the pulmonary valve Dandy-Walker malformation Nevus Tetraplegia Iris coloboma Papule Edema Neurological speech impairment Ataxia Retinopathy Scarring Rigidity Cerebral cortical atrophy Agenesis of corpus callosum Cerebellar hypoplasia Alopecia Cerebral atrophy Visual impairment Hypertonia Peripheral neuropathy Proportionate short stature EEG abnormality Hemangioma Dyschromatopsia Blue cone monochromacy Monochromacy Psychotic episodes Mania Progressive spastic paraparesis Decreased circulating aldosterone level Myelopathy Vegetative state Cerebral edema Spinocerebellar tract degeneration Achalasia Tubular atrophy Adrenal hypoplasia Cone monochromacy Urinary bladder sphincter dysfunction Loss of speech Primary adrenal insufficiency Bulbar palsy Bowel incontinence Abnormality of color vision Impotence Adrenal insufficiency Emotional lability Personality changes Abnormality of mitochondrial metabolism Incoordination Slurred speech Elevated long chain fatty acids Truncal ataxia Macular atrophy Retinal dystrophy Disproportionate short stature Aplasia/Hypoplasia of the skin Flared metaphysis Mental deterioration Dermal atrophy Oligodontia Attention deficit hyperactivity disorder Short ribs Spastic paraplegia Abnormality of the cerebral white matter Paraplegia Round face Recurrent fractures Narrow chest Leukodystrophy Platyspondyly Developmental regression Neurodegeneration Osteopenia Polyneuropathy Abnormal cerebellum morphology Urinary incontinence Optic atrophy Hypotension Peripheral demyelination Psychosis Limb ataxia Hyperpigmentation of the skin Sacral dimple Overriding aorta Intrauterine growth retardation Knee flexion contracture Cystic hygroma Short femoral neck Anonychia Bilateral talipes equinovarus Radial deviation of finger Clitoral hypertrophy Polycystic kidney dysplasia Eosinophilia Melanoma Abnormality of the metacarpal bones Cranial nerve paralysis Opacification of the corneal stroma Elbow flexion contracture Congestive heart failure Arrhythmia Recurrent urinary tract infections Abnormality of the genital system Encephalocele Convex nasal ridge Renal agenesis Underdeveloped nasal alae Renal cyst Dyspnea Talipes Prominent nasal bridge Sparse hair Pulmonic stenosis Oligodactyly Absent radius Tetralogy of Fallot Craniofacial dysostosis Premature separation of centromeric heterochromatin Midface capillary hemangioma Enlarged labia minora Tetraphocomelia Bilateral radial aplasia Spastic paraparesis Frontal encephalocele Absent earlobe Talipes equinovalgus Aplasia of the ulna Triangular mouth Bilateral renal agenesis Accessory spleen Narrow naris Ankle contracture Wrist flexion contracture Hydranencephaly Phocomelia Hand oligodactyly Biliary tract abnormality Long penis Bicornuate uterus Bilateral cleft lip and palate Low hanging columella Bilateral cleft lip Upper limb undergrowth Shallow orbits Severe intrauterine growth retardation Cyanosis Ventricular hypertrophy Hemiplegia Capillary hemangioma Bone cyst Peripheral pulmonary artery stenosis Breathing dysregulation Astrocytoma Xanthomatosis Hemihypertrophy Ectopia pupillae Dysostosis multiplex Right ventricular failure Abnormal eyelid morphology Skin tags Sclerocornea Abnormality of the skull Glioma Arachnoid cyst Abnormal eyelash morphology Nevus flammeus Lipoma Hypoplasia of the iris Aplasia cutis congenita Hamartoma Absent septum pellucidum Multiple lipomas Cortical dysplasia Abnormal nasal morphology Endocarditis Lipodystrophy Porencephalic cyst Visceral angiomatosis Glaucoma Linear hyperpigmentation Sinusitis Easy fatigability Clubbing Malar flattening Heart murmur Polycythemia Underdeveloped supraorbital ridges Poor appetite Hyperventilation Double outlet right ventricle Truncus arteriosus Lipomas of the central neryous system Abnormal cartilage morphology Osteochondrosis Abnormal aortic morphology Odontoma Neurodevelopmental abnormality Neoplasm of the skeletal system Pelvic kidney Chorioretinitis Right ventricular hypertrophy Subcutaneous lipoma Tricuspid valve prolapse Pulmonary artery atresia Abnormal nasolacrimal system morphology Subcortical cerebral atrophy Abnormal anterior chamber morphology Alopecia areata Congenital mitral stenosis



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