Hydrocephalus, and Bradycardia

Diseases related with Hydrocephalus and Bradycardia

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

Top matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

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

Other less relevant matches:

Medium match MUENKE SYNDROME

Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.

FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION Is also known as cardiomyopathy, familial idiopathic|cardiomyopathy, idiopathic dilated|cardiomyopathy, dilated, with conduction defect 1|cdcd1|cardiomyopathy, congestive

Related symptoms:

  • Ataxia
  • Pain
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION

Medium match USP18 DEFICIENCY

Pseudo-TORCH syndrome-2 is an autosomal recessive multisystem disorder characterized by antenatal onset of intracranial hemorrhage, calcification, brain malformations, liver dysfunction, and often thrombocytopenia. Affected individuals tend to have respiratory insufficiency and seizures, and die in infancy. The phenotype resembles the sequelae of intrauterine infection, but there is no evidence of an infectious agent. The disorder results from inappropriate activation of the interferon (IFN) immunologic pathway (summary by Meuwissen et al., 2016).For a discussion of genetic heterogeneity of PTORCH, see PTORCH1 (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hepatomegaly
  • Ventriculomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about USP18 DEFICIENCY

MGCA8 is an autosomal recessive metabolic disorder resulting in death in infancy. Features include hypotonia, abnormal movements, respiratory insufficiency with apneic episodes, and lack of developmental progress, often with seizures. Brain imaging is variable, but may show progressive cerebral atrophy. Laboratory studies show increased serum lactate and 3-methylglutaconic aciduria, suggesting a mitochondrial defect (summary by Mandel et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of 3-methylglutaconic aciduria, see MGCA type I (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA, TYPE VIII; MGCA8

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Ptosis
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

Congenital glutamine deficiency is a severe autosomal recessive disorder characterized by onset at birth of encephalopathy, lack of normal development, seizures, and hypotonia associated with variable brain abnormalities (summary by Haberle et al., 2011).

CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY Is also known as glutamine synthase deficiency, congenital systemic|inherited gs deficiency|inherited glutamine synthetase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscular hypotonia
  • Low-set ears


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL BRAIN DYSGENESIS DUE TO GLUTAMINE SYNTHETASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hydrocephalus and Bradycardia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Ventriculomegaly Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Apnea Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hydrocephalus and Bradycardia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Microcephaly Global developmental delay Low-set ears Hypoplasia of the corpus callosum Feeding difficulties Pectus excavatum Brachycephaly Myopathy Macrocephaly Dilated cardiomyopathy Cataract Muscular hypotonia Strabismus Ataxia Cerebral calcification Spasticity Anteverted nares Hearing impairment Scoliosis

Rare Symptoms - Less than 30% cases

Elbow flexion contracture EEG abnormality Glaucoma Flexion contracture Cerebellar hypoplasia Elevated serum creatine phosphokinase Dilatation Microphthalmia Gait disturbance Ptosis Muscular dystrophy Sudden cardiac death Polymicrogyria Ankle contracture Hypertelorism Sinus bradycardia Hyperreflexia Brachydactyly Downslanted palpebral fissures Frontal bossing Abnormality of the skeletal system Respiratory failure Syndactyly Weak cry Brain atrophy Spinal rigidity Proptosis Atrioventricular block Increased variability in muscle fiber diameter Atrial fibrillation Muscle stiffness Plagiocephaly Arrhythmia Hemivertebrae Pachygyria Atrophy/Degeneration affecting the brainstem Motor delay Sensorineural hearing impairment Hepatosplenomegaly Postnatal microcephaly Growth delay Wide nasal bridge Hepatomegaly Intrauterine growth retardation Tremor Sprengel anomaly Hypertonia Cerebral atrophy Thrombocytopenia Encephalopathy Dystonia Pain Depressed nasal bridge High palate Severe global developmental delay Elevated hepatic transaminase Chest pain Ventricular arrhythmia Disproportionate tall stature Ventricular hypertrophy Cardiomegaly Thromboembolism Inflammation of the large intestine Milia Basal cell carcinoma Long fingers Congestive heart failure Cardiomyopathy Agenesis of permanent teeth Fatigue Abnormal EKG Hemiparesis Melanocytic nevus Pericardial effusion Amyloidosis Spina bifida occulta Abnormality of the thyroid gland Short ribs Neoplasm of the skin Relative macrocephaly Glomerulonephritis Ventricular fibrillation Irregular ossification of hand bones Bundle branch block Spina bifida Nephritis Hyperpigmentation of the skin Exotropia Hypogonadotrophic hypogonadism Hamartomatous stomach polyps Neoplasm of the endocrine system Vertebral fusion Ectopic calcification Vertebral wedging Abnormality of the sense of smell Fibroma Fragile nails Hamartomatous polyposis Cervical ribs Supernumerary ribs Medulloblastoma Parietal bossing Astrocytoma Down-sloping shoulders Skin tags Brain neoplasm Short 4th metacarpal Ulcerative colitis Abnormality of the neck Narrow nose Ovarian carcinoma Cardiac fibroma Bifid ribs Bridged sella turcica Colitis Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Abnormality of the sternum Broad face Curved fingers Multiple impacted teeth Histiocytoma Calcification of falx cerebri Orbital cyst Thoracic scoliosis Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Cardiac rhabdomyoma Increased serum lactate Myocarditis Proximal muscle weakness in lower limbs Ventricular escape rhythm Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Tip-toe gait Peroneal muscle atrophy Increased LDL cholesterol concentration Supraventricular arrhythmia Pelvic girdle muscle weakness Distal lower limb muscle weakness Proximal upper limb amyotrophy Reduced ejection fraction Achilles tendon contracture Limb-girdle muscle weakness Distal lower limb amyotrophy Proximal amyotrophy Vocal cord paralysis Rimmed vacuoles Exertional dyspnea Toe walking Peroneal muscle weakness Type 1 muscle fiber atrophy Limb-girdle muscular dystrophy Skin rash Subependymal cysts Periventricular cysts Lower limb hyperreflexia CNS hypomyelination Hyperammonemia Abnormal intestine morphology Thin vermilion border Micromelia Erythema Pelvic girdle muscle atrophy Respiratory tract infection Camptodactyly Recurrent respiratory infections Short nose Diarrhea Restricted neck movement due to contractures Weakness of facial musculature Decreased cervical spine flexion due to contractures of posterior cervical muscles Absent muscle fiber emerin Myotonia Lipodystrophy Atrial flutter Ascites Fever Dilation of lateral ventricles Petechiae Cerebral hemorrhage Intracranial hemorrhage Aspiration Decreased liver function Heterotopia Lactic acidosis Generalized myoclonic seizures Lethargy Acidosis Patent ductus arteriosus Paroxysmal ventricular tachycardia Premature atrial contractions Reduced systolic function Skeletal myopathy Left ventricular failure Left ventricular noncompaction Neutropenia Hypotension Back pain Joint stiffness EMG: myopathic abnormalities Reduced tendon reflexes Respiratory insufficiency due to muscle weakness Scapular winging Palpitations Hypertriglyceridemia Waddling gait Ichthyosis Hyperlordosis Aciduria Hypertrophic cardiomyopathy Obesity Kyphosis Short neck 3-Methylglutaconic aciduria Increased CSF lactate Poor suck Clonus Abnormality of extrapyramidal motor function Abnormality of the ribs Bicoronal synostosis Nevus Abnormality of the cerebral white matter Cerebellar vermis hypoplasia Generalized muscle weakness Abnormal cerebellum morphology Retinal detachment Pulmonic stenosis Congenital cataract Hypermetropia Arthrogryposis multiplex congenita Dolichocephaly Preauricular skin tag Hip dislocation Camptodactyly of finger Abnormality of the pinna Neonatal hypotonia Rigidity Agenesis of corpus callosum Areflexia Intellectual disability, severe Encephalocele Congenital hip dislocation Respiratory distress Multiple joint contractures Cerebellar dysplasia Buphthalmos Myocardial fibrosis Retinal dysplasia Anencephaly Transposition of the great arteries Cortical dysplasia Generalized amyotrophy Calf muscle hypertrophy EMG abnormality Skeletal muscle hypertrophy Mask-like facies Hypoplasia of the brainstem Congenital muscular dystrophy Aplasia/Hypoplasia of the corpus callosum Lissencephaly Holoprosencephaly Knee flexion contracture Atrial septal defect Optic atrophy Exaggerated startle response Inability to walk Impulsivity Laryngomalacia Hyperbilirubinemia Paraparesis Clumsiness Open mouth Apraxia Delayed myelination Generalized tonic-clonic seizures Pontocerebellar atrophy Attention deficit hyperactivity disorder Protruding ear Hypoglycemia Thin upper lip vermilion Hypothyroidism Upslanted palpebral fissure Absent speech Long philtrum Inverted nipples Ganglioneuroblastoma Skeletal muscle atrophy Leukodystrophy Myopia Visual impairment Delayed speech and language development Muscle weakness CSF lymphocytic pleiocytosis Lymphocytosis Facial paralysis Leukopenia Progressive microcephaly Short stature Pancytopenia Convex nasal ridge Pruritus Paralysis Pneumonia Splenomegaly Cerebellar atrophy Anemia Type II lissencephaly Cerebellar cyst Palmoplantar keratoderma Low-frequency sensorineural hearing impairment Abnormality of the dentition Dysarthria Epicanthus Cryptorchidism Cleft palate Micrognathia Neoplasm Thimble-shaped middle phalanges of hand Unicoronal synostosis Abdominal pain Short middle phalanx of toe Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly Craniofacial asymmetry Parietal foramina Lambdoidal craniosynostosis Abnormality of the head Visual loss Polydactyly Oxycephaly Coloboma Postaxial polydactyly Iris coloboma Oral cleft Cleft upper lip Arachnodactyly Carious teeth Hypotrichosis Papule Sparse hair Mandibular prognathia Facial palsy Cleft lip Telecanthus Proteinuria Carcinoma Coarse facial features Retrognathia Kyphoscoliosis Anterior plagiocephaly Aqueductal stenosis Agyria Midface retrusion High, narrow palate Short palm Abnormal cardiac septum morphology Craniosynostosis Autistic behavior Anxiety Prominent forehead Clinodactyly Malar flattening Hypopigmentation of the skin Ventricular septal defect Dysphagia Hypertension Cognitive impairment Hypoplasia of the pyramidal tract Cephalocele Thoracic hemivertebrae Hypoglycosylation of alpha-dystroglycan Short foot Dental malocclusion Upper airway obstruction Short middle phalanx of finger Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Carpal synostosis Esophageal atresia Hypopigmentation of hair Tarsal synostosis Hypermelanotic macule Broad hallux Tracheoesophageal fistula Febrile seizures Radial deviation of finger Cone-shaped epiphysis Trigonocephaly Increased intracranial pressure Hypopigmented skin patches Acanthosis nigricans Low anterior hairline Epidermal acanthosis Bilateral sensorineural hearing impairment Necrolytic migratory erythema


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