Cardiomyopathy, and Lissencephaly

Diseases related with Cardiomyopathy and Lissencephaly

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

Top matches:

Malonic aciduria is a metabolic disorder caused by deficiency of malonyl-CoA decarboxylase (MCD).

MALONIC ACIDURIA Is also known as malonyl-coa decarboxylase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MALONIC ACIDURIA

Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

Other less relevant matches:

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

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

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

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Related symptoms:

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


SOURCES: OMIM MENDELIAN

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

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Lissencephaly

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

Other less frequent symptoms

Patients with Cardiomyopathy and Lissencephaly. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia

Common Symptoms - More than 50% cases

Cerebellar hypoplasia

Uncommon Symptoms - Between 30% and 50% cases

Intrauterine growth retardation Hypertrophic cardiomyopathy Respiratory distress Growth delay Hepatomegaly Micrognathia Agenesis of corpus callosum Abnormality of the pinna Respiratory insufficiency Hydrocephalus Hypoplasia of the corpus callosum Anteverted nares Areflexia Respiratory failure Ventriculomegaly Cataract Hearing impairment Feeding difficulties Abnormality of the cerebral white matter Hip dislocation Elevated serum creatine phosphokinase Dilatation Dysphagia Gait disturbance Myopathy Motor delay Muscle weakness Vomiting Neonatal hypotonia Lactic acidosis Polymicrogyria Congenital cataract Decreased liver function Microphthalmia Intellectual disability, severe Short stature High palate Low-set ears Spasticity Hypertelorism Small nail Acidosis Thin vermilion border Atrial septal defect Short neck Heterotopia Depressed nasal bridge Cryptorchidism Absent speech Ventricular septal defect Macrocephaly Cerebellar vermis hypoplasia

Rare Symptoms - Less than 30% cases

Tetraplegia Gliosis Neuronal loss in central nervous system Sloping forehead Tetraparesis Microretrognathia Postnatal growth retardation Micropenis Abnormality of the liver Elevated hepatic transaminase Jaundice Edema Telecanthus Polyhydramnios Fever Visual impairment Abnormal heart morphology Syndactyly Abnormal cardiac septum morphology Congenital microcephaly Spastic tetraparesis Hypospadias Congenital muscular dystrophy Congenital hip dislocation Pulmonary arterial hypertension Strabismus Delayed speech and language development Muscular dystrophy Wide anterior fontanel Hyperlordosis Arrhythmia Large fontanelles Sparse eyelashes Weak cry Abnormality of the genital system Dilated cardiomyopathy Skeletal muscle atrophy Redundant neck skin Cardiomegaly Dolichocephaly Flexion contracture Pulmonic stenosis Generalized muscle weakness Scoliosis Impaired mastication High forehead Failure to thrive in infancy Macroglossia Hypertension Increased serum lactate Renal cyst Hepatic steatosis Arthrogryposis multiplex congenita Protruding tongue Severe failure to thrive Lethargy Long philtrum Dandy-Walker malformation Cerebral cortical atrophy Brachydactyly Anemia Encephalopathy Hypoglycemia Metabolic acidosis Severe global developmental delay Renal insufficiency Short chin Retrognathia Hernia Episodic vomiting Hypertonia Patent ductus arteriosus Hypoventilation Cleft palate Ketosis Pain Hyperammonemia Diarrhea Delayed myelination Left ventricular hypertrophy Renal dysplasia Generalized aminoaciduria Respiratory arrest Proximal tubulopathy Exercise-induced myalgia Acute pancreatitis Loss of ability to walk Medulloblastoma Hypoketotic hypoglycemia Oliguria Glutaric aciduria Abnormal corpus callosum morphology Abnormality of the renal tubule Renal cortical cysts Progressive spastic quadriplegia Reye syndrome-like episodes Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Abnormal parietal bone morphology Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reduced protein C activity Personality disorder Elevated plasma acylcarnitine levels Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Narcolepsy Cataplexy Limb tremor Nonketotic hypoglycemia Hypoglycemic coma Organic aciduria Aplastic clavicle Abnormality of the occipital bone Anorexia Ragged-red muscle fibers Pancreatitis Scapular winging Exercise intolerance Aplasia/hypoplasia of the 1st metatarsal Type I diabetes mellitus Cardiac arrest Clonus Leukodystrophy Waddling gait Poor head control Aciduria Muscle cramps Coma Pulmonary hypoplasia Nausea Joint hyperflexibility Limb muscle weakness Nausea and vomiting Respiratory tract infection Myalgia Mutism Easy fatigability Chronic fatigue Acute kidney injury Excessive daytime somnolence Abnormality of dental structure Aplasia/Hypoplasia of the scapulae Ketonuria Narrow nasal base Cardiorespiratory arrest Progressive proximal muscle weakness Myoglobinuria Drowsiness Fatigable weakness Rhabdomyolysis Slurred speech Glycosuria Difficulty climbing stairs Restrictive ventilatory defect Aplasia/Hypoplasia of the proximal phalanx of the hallux Ventricular fibrillation Aplasia of the distal phalanges of the hand Stridor Hemiplegia Back pain Polycystic kidney dysplasia Pneumonia Cortical gyral simplification Severe short stature Generalized hypotrichosis Inverted nipples Short clavicles Aplasia/Hypoplasia of the thumb Abnormality of blood and blood-forming tissues Thin ribs Severe hearing impairment Gingival recession Abnormality of the scapula Abnormality of digit Broad secondary alveolar ridge Sclerocornea Absent sternal ossification Bilateral external ear deformity Absent thumb Short finger Aplasia/Hypoplasia of the eyebrow Anonychia Proximal muscle weakness Metatarsus adductus Aplasia/Hypoplasia of the hallux Short middle phalanx of finger Glossoptosis Aplasia/Hypoplasia of the clavicles Absent eyebrow Hypoplasia of the frontal lobes Wide cranial sutures Increased nuchal translucency Short upper lip Small earlobe Generalized neonatal hypotonia Aplasia/Hypoplasia of the middle phalanges of the hand Bilateral microphthalmos Multiple skeletal anomalies Premature loss of primary teeth Renovascular hypertension Abnormality of finger Renal artery stenosis Absent nipple Aplasia/Hypoplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the nipples Abnormality of the neck Decreased skull ossification Hypoplastic scapulae Aplasia/Hypoplasia of the nails Hypoplastic labia majora Hypoplastic facial bones Rocker bottom foot Abnormality of dental morphology Tapered toe Shortening of all distal phalanges of the toes Protruding ear Irritability Thin upper lip vermilion Macrotia Proptosis Narrow mouth Upslanted palpebral fissure Abnormality of the skeletal system Metaphyseal sclerosis Restrictive cardiomyopathy Short philtrum Partial agenesis of the corpus callosum Short proximal phalanx of hallux Abnormal pelvis bone morphology Arrhinencephaly Mild short stature Prominent nose Round face Short foot Small hand Craniosynostosis Sparse hair Microtia Clitoral hypertrophy Hydrops fetalis Slender long bones with narrow diaphyses Sparse eyebrow Pyloric stenosis Abnormality of the urinary system Abnormality of pelvic girdle bone morphology Tented upper lip vermilion Short ribs Short toe Sparse and thin eyebrow Short thumb Short phalanx of finger Hypotrichosis Sparse scalp hair Aplasia of the 1st metacarpal Tetralogy of Fallot Premature birth Hypodontia Hypopigmentation of the skin Tapered finger Single transverse palmar crease High, narrow palate Toe syndactyly Flared metaphysis Buphthalmos Difficulty walking Facial palsy Progressive muscle weakness Decreased body weight Open mouth Bradykinesia Focal-onset seizure Inability to walk Ophthalmoplegia Paralysis Feeding difficulties in infancy Intellectual disability, moderate Aspiration Kyphoscoliosis Gastroesophageal reflux Abnormality of metabolism/homeostasis Cognitive impairment Increased CSF protein Petechiae Purpura Opacification of the corneal stroma Cerebral visual impairment Sensorimotor neuropathy Absence seizures Status epilepticus Reduced ejection fraction Inferior vermis hypoplasia Increased endomysial connective tissue Pontocerebellar atrophy Diffuse white matter abnormalities Muscle fiber atrophy Increased connective tissue Cerebral edema Astrocytosis Atelectasis Abnormal cortical gyration Respiratory insufficiency due to muscle weakness Myositis Recurrent lower respiratory tract infections Abnormality of visual evoked potentials Abnormality of the periventricular white matter Hypokinesia Myopathic facies Limb-girdle muscular dystrophy Focal impaired awareness seizure Poor suck Postnatal microcephaly Intellectual disability, profound Abnormality of the temporomandibular joint Umbilical hernia Hyporeflexia Cerebral atrophy Peripheral neuropathy Skull asymmetry Periorbital fullness Cutis marmorata Ventricular hypertrophy Bifid uvula Wide mouth Coarse facial features Abnormality of the foot Obesity Wide nasal bridge Sensorineural hearing impairment Chronic constipation Poor appetite Recurrent urinary tract infections Febrile seizures Abdominal pain Constipation Myoclonus Epileptic encephalopathy Cerebral calcification Nystagmus Abnormality of movement Generalized tonic-clonic seizures Corneal opacity Skin rash Muscular hypotonia of the trunk Hepatosplenomegaly Thrombocytopenia Splenomegaly Hyperreflexia Microvesicular hepatic steatosis Renal hypoplasia Tongue fasciculations Breech presentation Increased CSF lactate Renal tubular acidosis Hyperkalemia Hyponatremia Chronic kidney disease CNS hypomyelination Severe muscular hypotonia Fasciculations Hypointensity of cerebral white matter on MRI Intercostal muscle weakness Arthralgia Abdominal distention Bilateral cryptorchidism Neonatal respiratory distress Proximal placement of thumb Abnormality of the genitourinary system Narrow palpebral fissure Short palpebral fissure Oligohydramnios Intestinal malrotation Full cheeks Postural instability Anteriorly placed anus Downturned corners of mouth Hirsutism Short palm Narrow chest Blepharophimosis Clinodactyly Abnormality of cardiovascular system morphology Short nose Downslanted palpebral fissures Hypoplastic left heart Tracheomalacia Hypoplasia of the pyramidal tract Dysarthria Dyspnea Weight loss Gait ataxia Depressivity Headache Behavioral abnormality Congestive heart failure Fatigue Tremor Ataxia Double outlet right ventricle Laryngeal hypoplasia Bronchomalacia Anotia Extramedullary hematopoiesis Endocardial fibroelastosis Entropion Abnormality of the larynx Cleft soft palate Tracheal stenosis Pierre-Robin sequence Ptosis Cephalocele Abnormal brainstem MRI signal intensity Camptodactyly of finger Hemivertebrae EMG abnormality Bradycardia Preauricular skin tag Encephalocele Brain atrophy Abnormal cerebellum morphology Retinal detachment Hypermetropia Apnea Holoprosencephaly Rigidity EEG abnormality Glaucoma Brachycephaly Pectus excavatum Optic atrophy Myopia Highly elevated creatine phosphokinase Absent muscle fiber merosin Knee flexion contracture Plagiocephaly Thoracic hemivertebrae Anencephaly Hypoglycosylation of alpha-dystroglycan Agyria Cerebellar cyst Exaggerated startle response Type II lissencephaly Cerebellar dysplasia Myocardial fibrosis Retinal dysplasia Ankle contracture Atrophy/Degeneration affecting the brainstem Aplasia/Hypoplasia of the corpus callosum 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 Hypoplasia of the brainstem Aplasia of the distal phalanx of the hallux


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