Ventricular septal defect, and Falls

Diseases related with Ventricular septal defect and Falls

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


Top matches:

Medium match MOWAT-WILSON SYNDROME; MOWS


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

Medium match CARDIOFACIOCUTANEOUS SYNDROME


Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Medium match MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY


Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

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Other less relevant matches:

Medium match CHÉDIAK-HIGASHI SYNDROME


Chédiak-Higashi syndrome (CHS) is a rare severe genetic disorder generally characterized by partial oculocutaneous albinism (OCA, see this term), severe immunodeficiency, mild bleeding, neurological dysfunction and lymphoproliferative disorder. A classic, early-onset form and an attenuated, later-onset form (Atypical CHS; see this term) have been described.

CHÉDIAK-HIGASHI SYNDROME Is also known as chÉdiak-higashi-steinbrink syndrome|chÉdiak-higashi disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHÉDIAK-HIGASHI SYNDROME

Medium match SYMPTOMATIC FORM OF MUSCULAR DYSTROPHY OF DUCHENNE AND BECKER IN FEMALE CARRIERS


Symptomatic forms of Duchenne and Becker muscular dystrophies (DMD and BMD: see these terms) in females carriers are characterized by variable degrees of muscle weakness due to progressive skeletal myopathy, sometimes associated with dilated cardiomyopathy or left ventricle dilation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Muscular hypotonia
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about SYMPTOMATIC FORM OF MUSCULAR DYSTROPHY OF DUCHENNE AND BECKER IN FEMALE CARRIERS

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2F


Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2F Is also known as delta-sarcoglycanopathy|limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency|lgmd2f|muscular dystrophy, limb-girdle, type 2f

Related symptoms:

  • Respiratory insufficiency
  • Elevated serum creatine phosphokinase
  • Difficulty walking
  • Proximal muscle weakness
  • Myalgia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2F

Medium match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


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

Medium match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Low match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Low match REDUCING BODY MYOPATHY


Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Short neck
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about REDUCING BODY MYOPATHY

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

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

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

Uncommon Symptoms - Between 30% and 50% cases


Dilated cardiomyopathy Seizures Nystagmus Muscle weakness Short neck Abnormality of cardiovascular system morphology Elevated serum creatine phosphokinase Gowers sign Thrombocytopenia Gait disturbance Posteriorly rotated ears Downslanted palpebral fissures Strabismus Ptosis Short stature Cryptorchidism Microcephaly Growth delay Muscular hypotonia Hypertelorism Leukemia Macrotia Poor suck Frequent falls Postnatal growth retardation Proximal muscle weakness Pectus carinatum Hyporeflexia Abnormal bleeding Sparse hair Bruising susceptibility Polyhydramnios Pulmonic stenosis Myopathy Peripheral axonal neuropathy Fine hair Delayed speech and language development Hypertrophic cardiomyopathy Subvalvular aortic stenosis High forehead Cerebral cortical atrophy Hyperpigmentation of the skin Difficulty walking Hearing impairment Failure to thrive Pain High palate Motor delay Epicanthus Neoplasm Ataxia Scoliosis Optic atrophy Behavioral abnormality Frontal bossing Areflexia Lower limb muscle weakness Pectus excavatum Edema Depressivity Splenomegaly Kyphosis Congestive heart failure

Rare Symptoms - Less than 30% cases


Proptosis Dysarthria Hepatomegaly Thick vermilion border Astigmatism Premature birth Webbed neck Low posterior hairline Myocardial infarction Long philtrum Ichthyosis Inguinal hernia Hypotrichosis Hypermetropia Feeding difficulties in infancy Abnormality of the eye Low-set, posteriorly rotated ears Malar flattening Clinodactyly of the 5th finger Gastroesophageal reflux Macrocephaly Prominent forehead Dysphagia Anteverted nares Hemiparesis Respiratory distress Cafe-au-lait spot Myalgia Ventricular hypertrophy Respiratory insufficiency Myocardial fibrosis Visual impairment Peripheral neuropathy Cerebellar atrophy Reduced visual acuity Hepatosplenomegaly Rigidity Facial palsy Abnormality of movement Sensory neuropathy Neurodegeneration Lymphoma Peripheral demyelination Epistaxis Spinocerebellar tract degeneration Foot dorsiflexor weakness Fair hair Muscular dystrophy Hyperactivity Lymphedema Chest pain Hemangioma Delayed gross motor development Abnormality of vision Deep philtrum Failure to thrive in infancy Bilateral ptosis Pleural effusion Melanocytic nevus Cubitus valgus Neurodevelopmental delay Intellectual disability, mild Limb muscle weakness Generalized hyperpigmentation Underdeveloped supraorbital ridges Short attention span Proximal placement of thumb Bilateral single transverse palmar creases Aortic valve stenosis Abnormality of the foot Skeletal muscle atrophy Depressed nasal bridge Joint hypermobility Feeding difficulties Low-set ears Abnormality of the cerebral white matter Cleft upper lip Abdominal distention Brain atrophy Vesicoureteral reflux Esotropia Coarctation of aorta Finger syndactyly Open mouth Aplasia/Hypoplasia of the corpus callosum Abnormality of the genitourinary system Sparse eyebrow Submucous cleft hard palate External ear malformation Neurological speech impairment Abnormal cardiac septum morphology Low hanging columella Vomiting Abnormal facial shape Cleft palate Fever Ventriculomegaly Intellectual disability, severe Short nose Abnormality of the kidney Microphthalmia Dilatation Abnormal heart morphology Constipation Hydronephrosis Telecanthus Abnormal eyebrow morphology Sensory axonal neuropathy Cataract Flexion contracture Micrognathia Abnormality of the gastrointestinal tract Hand muscle atrophy Proximal upper limb amyotrophy Ascites Clinodactyly Highly arched eyebrow Humeroradial synostosis Broad forehead Joint laxity Wrist flexion contracture Hypertension Cognitive impairment Absent muscle fiber delta sarcoglycan Shuffling gait Generalized limb muscle atrophy Proximal lower limb amyotrophy Wide intermamillary distance Limb-girdle muscle weakness Aplasia of the ulna Complete duplication of thumb phalanx Abnormality of the autonomic nervous system Intrauterine growth retardation Brachydactyly Facial hemangioma Proximal amyotrophy Absent earlobe Triangular face Mitral regurgitation Hip dysplasia Hydrocele testis Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Monocytosis Broad toe Prominent fingertip pads Chylothorax Hypochromic microcytic anemia Abnormality of the spleen B-cell lymphoma Phocomelia Facial hypotonia Cyanosis Decreased muscle mass Brachycephaly Overfolded helix Abnormality of the thorax Cholelithiasis Bicuspid aortic valve Torticollis Vasculitis Upper limb amyotrophy Incomprehensible speech Hydrops fetalis Calf muscle hypertrophy Atrophic superior cerebellar peduncle Impaired visually enhanced vestibulo-ocular reflex Progressive flexion contractures Decreased pyruvate carboxylase activity Palmar hyperhidrosis Giant melanosomes in melanocytes Recurrent cutaneous abscess formation Abnormal leukocyte morphology Temporal optic disc pallor Increased variability in muscle fiber diameter Hypofibrinogenemia Oculogyric crisis Recurrent bacterial skin infections Abnormality of the dentate nucleus Macular hypoplasia Partial albinism Recurrent systemic pyogenic infections Hypersplenism Progressive peripheral neuropathy Mitochondrial malic enzyme reduced Hemophagocytosis Spinal rigidity White hair Generalized hypopigmentation Periodontitis Gingivitis Iris hypopigmentation Gingival bleeding Abnormality of multiple cell lineages in the bone marrow Generalized hypopigmentation of hair Hypoplasia of olfactory tract Premature separation of centromeric heterochromatin Toe walking Limb-girdle muscular dystrophy Scapular winging Hemifacial hypertrophy Mesomelic arm shortening Decreased amplitude of sensory action potentials Tetraphocomelia Abnormal muscle fiber dystrophin expression Pelvic girdle muscle weakness Abnormal left ventricle morphology Midface capillary hemangioma Muscular subvalvular aortic stenosis Respiratory insufficiency due to muscle weakness Reduced ejection fraction Structural foot deformity Respiratory failure Shoulder girdle muscle weakness Exercise intolerance Hyperlordosis Muscle cramps Lumbar hyperlordosis Abolished vibration sense Cervical spinal cord atrophy Progressive muscle weakness Spinal cord posterior columns myelin loss Reduced factor IX activity Reduced factor XII activity Sinus tachycardia Decreased motor nerve conduction velocity Heart block Abnormality of visual evoked potentials Abnormal EKG Thoracic scoliosis Sandal gap Optic neuropathy Hyperactive deep tendon reflexes Visual field defect Melanoma Glucose intolerance Hypoplasia of the radius Hammertoe Ketosis Impaired vibratory sensation Dysdiadochokinesis Cachexia Decreased sensory nerve conduction velocity Polycystic kidney dysplasia Diabetic ketoacidosis Incoordination Slurred speech Ventricular arrhythmia Radioulnar synostosis Retrognathia Clitoral hypertrophy Opacification of the corneal stroma Wormian bones Spastic paraparesis Blue sclerae Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Positive Romberg sign Prominent nasal bridge Corneal opacity Underdeveloped nasal alae Lower limb amyotrophy Abnormal echocardiogram Poor fine motor coordination Craniosynostosis T-wave inversion Asymmetric septal hypertrophy Urinary bladder sphincter dysfunction Impaired proprioception Gait imbalance Paralysis Bowing of the long bones Hyposmia Reduced systolic function Areflexia of lower limbs Short thumb Knee flexion contracture Increased reactive oxygen species production Ketoacidosis Hypopigmentation of hair Reduced tendon reflexes Paraparesis Juvenile myelomonocytic leukemia Abnormality of the upper limb Unsteady gait Dysmetria Upper limb undergrowth Abnormality of eye movement Capillary hemangioma Abnormal pyramidal sign Pallor Pes planus Cerebellar cortical atrophy Gait ataxia Diabetes mellitus Pes cavus Tachycardia Patellar aplasia Babinski sign Arrhythmia Visual loss Dystonia Talipes equinovarus Fatigue Spasticity Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Long penis Vertigo Inability to walk Muscle stiffness Palpitations Truncal ataxia Insulin resistance Spastic gait Limb ataxia Radial deviation of finger Lower limb spasticity Short femoral neck Left ventricular hypertrophy Involuntary movements Absent thumb Clumsiness Aplasia/Hypoplasia of the thumb Abnormal cerebellum morphology Atrial fibrillation Intention tremor Hip contracture Absent radius Optic disc pallor Synostosis of carpal bones Sensory impairment Concentric hypertrophic cardiomyopathy Severe intrauterine growth retardation Chorea Glaucoma Progressive cerebellar ataxia Kyphoscoliosis Functional abnormality of the gastrointestinal tract Resting tremor Alopecia Scarring Erythema Respiratory tract infection Irritability Aggressive behavior EEG abnormality Umbilical hernia Coarse facial features Osteopenia Autism Hyperkeratosis Hyperhidrosis Delayed skeletal maturation Nail dystrophy Encephalopathy Hernia Cerebral atrophy Hypertonia Abnormality of the dentition Blindness Hydrocephalus Myopia Aplasia/Hypoplasia of the cerebral white matter Pulmonary artery sling Large basal ganglia Abnormal morphology of the hippocampus Pruritus Dolichocephaly Generalized muscle hypertrophy Progressive visual loss Oculomotor apraxia Sparse eyelashes Narrow palate Abnormality of the nail Aspiration Cerebral visual impairment Thickened skin Decreased body weight Inflammatory abnormality of the skin Cardiomegaly Narrow forehead Abnormality of the cardiovascular system Growth hormone deficiency Genu valgum Dental malocclusion Intestinal malrotation Nevus Full cheeks Palmoplantar keratoderma Sleep disturbance High, narrow palate Hepatic steatosis Retinal dystrophy Bulbous nose Long face Abnormality of skin pigmentation Dry skin Abnormal eye morphology Uplifted earlobe Abnormal palate morphology Short philtrum Recurrent otitis media Sparse scalp hair Sloping forehead Dehydration Tetralogy of Fallot Febrile seizures Focal-onset seizure Otitis media Delayed eruption of teeth Tapered finger Everted lower lip vermilion Iris coloboma Camptodactyly of finger Aganglionic megacolon Coloboma Anxiety Deeply set eye Mandibular prognathia Agenesis of corpus callosum Patent ductus arteriosus Hypospadias Absent speech Syndactyly Diarrhea Hypoplasia of the corpus callosum Wide nasal bridge Abnormality of the genital system Postnatal microcephaly Atypical absence seizures Chronic constipation Happy demeanor Deep plantar creases Subglottic stenosis Broad eyebrow Prominent nasal tip Esodeviation Broad columella Broad hallux phalanx Large earlobe Bruxism Tracheal stenosis Misalignment of teeth Pulmonary artery stenosis Pointed chin Drowsiness Supernumerary nipple Ectopic kidney Hallux valgus Rocker bottom foot Cupped ear Bifid scrotum Aplasia/Hypoplasia of the cerebellum Pyloric stenosis Drooling Widely spaced teeth Cutaneous syndactyly Absence seizures Cutis laxa Sleep apnea Cerebral hemorrhage Inappropriate crying Congenital muscular dystrophy Infantile muscular hypotonia Mitral valve prolapse Waddling gait Poor speech Attention deficit hyperactivity disorder Neonatal hypotonia Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Cutaneous T-cell lymphoma Difficulty standing Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Mildly elevated creatine phosphokinase Mitochondrial depletion Anterior creases of earlobe Parkinsonism Albinism Decreased nerve conduction velocity Cranial nerve paralysis Leukopenia Skin ulcer Amblyopia Hypertriglyceridemia Cutaneous photosensitivity Pancytopenia Abnormality of extrapyramidal motor function Bradykinesia Gastrointestinal hemorrhage Hypopigmentation of the skin Anemia Neutropenia Lymphadenopathy Paresthesia Paraplegia Spastic paraplegia Developmental regression Mental deterioration Photophobia Jaundice Recurrent respiratory infections Recurrent infections Immunodeficiency Tremor Abnormality of the optic disc Frontal balding Optic nerve hypoplasia Hydroureter Atopic dermatitis Poor appetite Anal stenosis Curly hair Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Aplasia/Hypoplasia of the eyebrow Malnutrition Abnormal eyelash morphology Open bite Large for gestational age Absent eyebrow Obsessive-compulsive behavior Heart murmur Chronic otitis media Ectropion Scaling skin Brittle hair Redundant skin Hyperextensible skin Relative macrocephaly Palmoplantar hyperkeratosis Alopecia of scalp Arnold-Chiari type I malformation Endocarditis Gastrointestinal dysmotility Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Thickened helices Slow-growing hair Abnormal mitral valve morphology Deep palmar crease Enlarged kidney Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Rimmed vacuoles



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