Cardiomyopathy, and Agenesis of corpus callosum

Diseases related with Cardiomyopathy and Agenesis of corpus callosum

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Agenesis of corpus callosum that can help you solving undiagnosed cases.


Top matches:

Medium match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

Medium match HISTIOCYTOID CARDIOMYOPATHY


Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

HISTIOCYTOID CARDIOMYOPATHY Is also known as foamy myocardial transformation of infancy|infantile cardiomyopathy with histiocytoid change|infantile xanthomatous cardiomyopathy|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|oncocytic cardiomyopathy|cardiomyopathy, focal lipid

Related symptoms:

  • Ventricular septal defect
  • Hydrocephalus
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HISTIOCYTOID CARDIOMYOPATHY

Medium match MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13


Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE; MCPH13

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Other less relevant matches:

Medium match SEPTOOPTIC DYSPLASIA


Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010).Also see {516020.0012} for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.

SEPTOOPTIC DYSPLASIA Is also known as de morsier syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SEPTOOPTIC DYSPLASIA

Medium match CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE


Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Medium match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM


The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Medium match TORIELLO-CAREY SYNDROME


Toriello Carey syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysmorphic features, cerebral anomalies, swallowing difficulties, cardiac defects and hypotonia.

TORIELLO-CAREY SYNDROME Is also known as toriello-carey syndrome|corpus callosum agenesis-blepharophimosis-robin sequence syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about TORIELLO-CAREY SYNDROME

Medium match ROIFMAN SYNDROME


Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Medium match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Medium match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Agenesis of corpus callosum

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Agenesis of corpus callosum. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Dilated cardiomyopathy

Common Symptoms - More than 50% cases


Muscular hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Short stature Intrauterine growth retardation Cerebellar hypoplasia Respiratory distress Abnormal facial shape Micrognathia Atrial septal defect Hydrocephalus Ventricular septal defect Respiratory failure Cataract Microphthalmia Ventricular fibrillation Postnatal growth retardation Feeding difficulties High palate Low-set ears Hearing impairment Severe short stature Pneumonia Nystagmus Failure to thrive Anteverted nares Syndactyly Cerebellar vermis hypoplasia Polymicrogyria Hypospadias Arrhythmia Cardiomegaly Ventriculomegaly Dilatation Histiocytoid cardiomyopathy Tachycardia Congestive heart failure

Rare Symptoms - Less than 30% cases


Myopathy Elevated serum creatine phosphokinase Glaucoma Optic atrophy Motor delay Flexion contracture Abnormality of the pinna Delayed speech and language development Anencephaly Aplasia/Hypoplasia of the corpus callosum Knee flexion contracture Hepatomegaly Pachygyria EEG abnormality Neonatal hypotonia Respiratory insufficiency Apnea Pulmonic stenosis Congenital cataract Retinal dysplasia Depressed nasal bridge Hyperreflexia Abnormal cardiac septum morphology Ocular albinism Albinism Abnormality of retinal pigmentation Hypopigmentation of the skin Wide nose Hypertrophic cardiomyopathy Sensorineural hearing impairment Retinal dystrophy Hypogonadism Immunodeficiency Long philtrum Anteriorly placed anus Narrow palpebral fissure Downturned corners of mouth Blepharophimosis Fatigue Retrognathia Abnormal heart morphology Clinodactyly Hernia Abnormality of cardiovascular system morphology Vomiting Downslanted palpebral fissures Brachydactyly Colpocephaly Ptosis Hypertelorism Oligohydramnios Feeding difficulties in infancy Acidosis Muscle weakness Cleft palate Cavum septum pellucidum Hypoplasia of the corpus callosum Hepatic steatosis Severe global developmental delay Hypoglycemia Hypoplastic left heart Congenital glaucoma Supraventricular tachycardia Micropenis Ventricular tachycardia Cardiac arrest Corneal opacity Spasticity Muscular hypotonia of the trunk Visual impairment Cryptorchidism Myopia Partial agenesis of the corpus callosum Sloping forehead Strabismus Heterotopia Endocardial fibroelastosis Absent septum pellucidum Sclerocornea Preauricular pit Tricuspid regurgitation Anophthalmia Clitoral hypertrophy Patent foramen ovale Dermal atrophy Lymphadenopathy Mutism Pleural effusion Thin upper lip vermilion Sacral dimple Intellectual disability, progressive Abnormality of dental enamel Abnormality of the nail Hyperpigmentation of the skin Cafe-au-lait spot Single transverse palmar crease Amblyopia Mitral regurgitation Hypopigmented skin patches Aphasia Congenital diaphragmatic hernia Clinodactyly of the 5th finger Abnormal nasolacrimal system morphology Epispadias Abnormality of earlobe Chordee Periventricular leukomalacia Abnormality of the testis Echolalia Abnormal eyelid morphology Male pseudohermaphroditism Dysphasia Dilation of lateral ventricles Abnormal eyelash morphology Posterior embryotoxon Hepatosplenomegaly Aplasia cutis congenita Aplasia/Hypoplasia of the skin Abnormality of the ear Hypoplasia of the uterus Status epilepticus Mitral valve prolapse Ambiguous genitalia Prominent eyelashes Wide nasal bridge Pericardial effusion Biconvex vertebral bodies Meningitis Irregular femoral epiphysis Noncompaction cardiomyopathy Recurrent pneumonia Finger clinodactyly Humoral immunodeficiency Blindness Short digit Pulmonary edema Narrow nose Irregular vertebral endplates Hip contracture Tachypnea Long palpebral fissure Spondyloepiphyseal dysplasia Short toe Sinusitis Eosinophilia Nail dystrophy Pigmentary retinopathy Premature birth Specific learning disability Short metacarpal Iris coloboma Severe muscular hypotonia Abnormality of skin pigmentation Anal atresia Underdeveloped nasal alae Midface retrusion Abnormality of the anus Skin rash Coloboma Erythema Eczema Dyspnea Visual loss Recurrent otitis media Abnormality of metabolism/homeostasis Tricuspid valve prolapse Severe vision loss Overriding aorta IgG deficiency Recurrent viral infections Abnormal cortical gyration Chronic mucocutaneous candidiasis Hypoplasia of the pons Fair hair Renal tubular dysfunction Depressed nasal tip Severe failure to thrive Aspiration pneumonia Severe sensorineural hearing impairment Cellular immunodeficiency Hypopigmentation of hair Optic neuropathy Abnormality of immune system physiology Renal tubular acidosis Centrally nucleated skeletal muscle fibers Bronchitis Macular atrophy Neurodevelopmental delay Combined immunodeficiency Congenital sensorineural hearing impairment Hypoplasia of the thymus Hypopigmentation of the fundus Adducted thumb Schizencephaly White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Immunoglobulin IgG2 deficiency Ureteral atresia Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Abnormal macular morphology Recurrent fungal infections Muscle flaccidity Abnormality of the cerebellar vermis Abnormality of the thymus Abnormality of the optic disc Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Abnormality of the mandible Pontocerebellar atrophy Granulocytopenia Abnormal posturing Poor suck Infantile muscular hypotonia Mandibular aplasia Asymmetric, linear skin defects Coarse facial features Cerebral cortical atrophy Rod-cone dystrophy Recurrent respiratory infections Recurrent infections Hypertonia Cerebellar atrophy Peripheral neuropathy Epicanthus Anal fistula Cleft earlobe Respiratory tract infection Abnormality of the rectum Vitritis Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Lacrimal duct atresia Functional motor deficit Ovotestis Abnormality of the penis Cleft lip Joint stiffness Leukopenia Ventricular hypertrophy Recurrent bacterial infections Increased body weight Aspiration Lymphopenia Progressive microcephaly Decreased liver function Decreased body weight Left ventricular hypertrophy Open mouth Progressive neurologic deterioration Hypotelorism Cleft upper lip Narrow forehead Decreased antibody level in blood Delayed myelination Sepsis Triangular face Neutropenia Sleep disturbance High, narrow palate Thick vermilion border Pulmonary hypoplasia Arteria lusoria Redundant neck skin Splenomegaly Hypoplasia of the brainstem Transposition of the great arteries Spinal rigidity Cortical dysplasia Generalized amyotrophy Multiple joint contractures Calf muscle hypertrophy Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Mask-like facies Congenital muscular dystrophy Atrophy/Degeneration affecting the brainstem Fever Plagiocephaly Lissencephaly Holoprosencephaly Talipes equinovarus Hemivertebrae EMG abnormality Congenital hip dislocation Bradycardia Weak cry Ankle contracture Encephalocele Restrictive cardiomyopathy Elevated hepatic transaminase High forehead Round face Prominent nose Prominent forehead Posteriorly rotated ears Renal insufficiency Mild short stature Cortical gyral simplification Metaphyseal sclerosis Myocardial fibrosis Hypoplasia of the pyramidal tract Cephalocele Thoracic hemivertebrae Hypoglycosylation of alpha-dystroglycan Agyria Cerebellar cyst Exaggerated startle response Type II lissencephaly Cerebellar dysplasia Buphthalmos Preauricular skin tag Obesity Short foot Decreased circulating follicle stimulating hormone level Gait disturbance Macrocephaly Cerebral palsy Skeletal muscle atrophy Optic nerve hypoplasia Precocious puberty Diabetes insipidus Short finger Scoliosis Decreased circulating luteinizing hormone level Hypocalcemia Bitemporal hemianopia Pituitary dwarfism Septo-optic dysplasia Ectopic posterior pituitary Optic disc hypoplasia Anterior pituitary hypoplasia Hemianopia Hypopituitarism Adrenocorticotropic hormone deficiency Panhypopituitarism Exercise intolerance Intellectual disability, severe Brain atrophy Muscular dystrophy Generalized muscle weakness Abnormal cerebellum morphology Retinal detachment Polydactyly Autism Hypermetropia Arthrogryposis multiplex congenita Abnormality of the cerebral white matter Dolichocephaly Hip dislocation Dehydration Camptodactyly of finger Hypothyroidism Abnormality of the eye Rigidity Abnormality of eye movement Brachycephaly Talipes Areflexia Pectus excavatum Growth hormone deficiency Hydronephrosis Lethargy Intellectual disability, mild Telecanthus Intestinal malrotation Full cheeks Abdominal distention Postural instability Hirsutism Short palm Thin vermilion border Narrow chest Sudden cardiac death Polyhydramnios Short palpebral fissure Wolff-Parkinson-White syndrome Patent ductus arteriosus Left ventricular noncompaction Abnormal myocardium morphology Peters anomaly Skeletal myopathy Short nose Short neck Abnormal atrioventricular conduction Small nail Abnormality of the genital system Decreased activity of mitochondrial complex I Tracheal stenosis Edema Laryngeal hypoplasia Bronchomalacia Anotia Extramedullary hematopoiesis Entropion Amniotic constriction ring Abnormality of the larynx Cleft soft palate Pierre-Robin sequence Large fontanelles Double outlet right ventricle Tracheomalacia Hyperpigmented streaks Bilateral cryptorchidism Neonatal respiratory distress Proximal placement of thumb Abnormality of the genitourinary system Microretrognathia Sparse eyelashes Wide anterior fontanel Dysphagia Increased mitochondrial number Abnormality of the foot Narrow palate Heart block Enlarged kidney Hyperkalemia Cerebral hemorrhage Hypoplastic toenails Overfolded helix Polycystic kidney dysplasia Ventricular arrhythmia Hyperammonemia Multicystic kidney dysplasia Hypoketotic hypoglycemia Elbow flexion contracture Renal dysplasia Small hand Wide intermamillary distance Aciduria Coma Metabolic acidosis Tapered finger Bulbous nose Hepatic failure Hypothermia Cystic renal dysplasia Hypoplasia of the retina Decreased plasma free carnitine Acute tubular necrosis Absent speech Craniosynostosis Long-chain dicarboxylic aciduria Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Intracerebral periventricular calcifications Tapered toe Hepatic calcification Ureteral duplication Basal ganglia cysts Elevated long chain fatty acids Increased muscle lipid content Nonketotic hypoglycemia Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Biventricular hypertrophy Abnormality of nervous system morphology Long toe Acute bronchitis



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