Macrocephaly, and Bradycardia

Diseases related with Macrocephaly and Bradycardia

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

Top matches:

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 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

Other less relevant matches:

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

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome is a rare mitochondrial disease due to a defect in coenzyme Q10 biosynthesis that manifests with a broad spectrum of signs and symptoms which may include: neonatal lactic acidosis, global developmental delay, tonus disorder, seizures, reduced spontaneous movements, ventricular hypertrophy, bradycardia, renal tubular dysfunction with massive lactic acid excretion in urine, severe biochemical defect of respiratory chain complexes II/III when assayed together and deficiency of coenzyme Q10 in skeletal muscle. Cerebral and cerebellar atrophy can be seen on magnetic resonance imaging and multiple choroid plexus cysts and symmetrical hyperechoic signal alterations in basal ganglia have been observed on ultrasound.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ENCEPHALOPATHY-HYPERTROPHIC CARDIOMYOPATHY-RENAL TUBULAR DISEASE SYNDROME

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

The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency|ceroid lipofuscinosis, neuronal, cathepsin d-deficient

Related symptoms:

  • Seizures
  • Microcephaly
  • Ataxia
  • Spasticity
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

Infantile cerebellar-retinal degeneration is a rare, neurodegenerative disorder characterized by an early onset of truncal hypotonia, variable forms of seizures, athetosis, severe global developmental delay, intellectual disability and various ophthalmologic abnormalities, including strabismus, nystagmus, optic atrophy and retinal degeneration.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about INFANTILE CEREBELLAR-RETINAL DEGENERATION

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

Top 5 symptoms//phenotypes associated to Macrocephaly and Bradycardia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Apnea Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Hydrocephalus Intellectual disability Ventriculomegaly Feeding difficulties Ataxia Cerebellar atrophy Low-set ears Postnatal microcephaly Spasticity Hypoplasia of the corpus callosum Cerebral atrophy Strabismus Hearing impairment Brachycephaly Cataract Cerebral calcification Hypertonia Dystonia Encephalopathy Tremor Respiratory failure Acidosis Weak cry Intellectual disability, severe Visual loss Intrauterine growth retardation Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases

Hepatosplenomegaly Hypertelorism Anteverted nares Hemivertebrae Abnormality of the skeletal system Scoliosis Plagiocephaly Lactic acidosis Frontal bossing Brachydactyly Downslanted palpebral fissures Atrophy/Degeneration affecting the brainstem Hyperreflexia High palate Hepatomegaly Thrombocytopenia Progressive microcephaly Wide nasal bridge Elevated hepatic transaminase Severe global developmental delay Growth delay Generalized-onset seizure Pachygyria Cerebellar hypoplasia Glaucoma EEG abnormality Rigidity Areflexia Pectus excavatum Peripheral neuropathy Microphthalmia Increased serum lactate Myopathy Muscle stiffness Central apnea Proptosis Skeletal muscle atrophy Polymicrogyria Respiratory distress Motor delay Nevus Optic atrophy Syndactyly Agenesis of corpus callosum Cerebral hemorrhage Aminoaciduria Hypokinesia Left ventricular hypertrophy Ventricular hypertrophy Severe lactic acidosis Decreased fetal movement Abnormal renal physiology Small for gestational age Hypertrophic cardiomyopathy Petechiae Dilation of lateral ventricles Hypothermia Opisthotonus Bridged sella turcica Intracranial hemorrhage Medulloblastoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Astrocytoma Multiple impacted teeth Brain neoplasm Ulcerative colitis Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Skin tags Down-sloping shoulders Ovarian carcinoma Severe hydrocephalus Aspiration Hyperalaninemia Decreased liver function Heterotopia Ascites Lethargy Patent ductus arteriosus Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Plantar pits Short distal phalanx of the thumb Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Abnormality of the renal tubule Sloping forehead Abnormal enzyme/coenzyme activity Hypothyroidism Delayed myelination Inability to walk Generalized tonic-clonic seizures Attention deficit hyperactivity disorder Protruding ear Hypoglycemia Thin upper lip vermilion Upslanted palpebral fissure Open mouth Absent speech Long philtrum Depressed nasal bridge Vegetative state Demyelinating peripheral neuropathy Poor eye contact Muscle fibrillation Hyperglycemia Apraxia Clumsiness Progressive hearing impairment Pneumonia Lymphocytosis Facial paralysis Leukopenia Leukodystrophy Pancytopenia Convex nasal ridge Pruritus Paralysis Splenomegaly Paraparesis Anemia Short stature Ganglioneuroblastoma Pontocerebellar atrophy Inverted nipples Impulsivity Laryngomalacia Hyperbilirubinemia Athetosis Increased body weight Decreased activity of mitochondrial complex II 3-Methylglutaconic aciduria Gliosis Peripheral axonal neuropathy Mental deterioration Dementia Rod-cone dystrophy Abnormality of metabolism/homeostasis Cardiomyopathy Increased CSF lactate Cyanosis Poor suck Clonus Abnormality of extrapyramidal motor function Aciduria Generalized myoclonic seizures Neutropenia Fever Decreased activity of mitochondrial complex III Neuronal loss in central nervous system Narrow nose Metabolic acidosis Edema Retinal dystrophy Retinal degeneration Abnormality of eye movement Pallor Abnormality of the eye Muscular hypotonia of the trunk Cerebral cortical atrophy Hyporeflexia Failure to thrive Status epilepticus Nystagmus Premature closure of fontanelles Increased neuronal autofluorescent lipopigment Intracellular accumulation of autofluorescent lipopigment storage material Loss of speech Retinal atrophy Sensory axonal neuropathy Intellectual disability, progressive Fragile nails Palmoplantar keratoderma Sprengel anomaly Type II lissencephaly Hypoplasia of the pyramidal tract Cephalocele Thoracic hemivertebrae Hypoglycosylation of alpha-dystroglycan Agyria Cerebellar cyst Exaggerated startle response Cerebellar dysplasia Cognitive impairment Buphthalmos Myocardial fibrosis Retinal dysplasia Ankle contracture Anencephaly Transposition of the great arteries Spinal rigidity Cortical dysplasia Ptosis Hypertension Multiple joint contractures Short palm Epidermal acanthosis Bilateral sensorineural hearing impairment Febrile seizures Dental malocclusion Hypopigmentation of the skin Short foot High, narrow palate Abnormal cardiac septum morphology Dysphagia Craniosynostosis Autistic behavior Anxiety Prominent forehead Clinodactyly Midface retrusion Malar flattening Ventricular septal defect Generalized amyotrophy Calf muscle hypertrophy Acanthosis nigricans Elevated serum creatine phosphokinase Dolichocephaly Dilated cardiomyopathy Muscular dystrophy Hip dislocation Camptodactyly of finger Abnormality of the pinna Neonatal hypotonia Dilatation Arthrogryposis multiplex congenita Atrial septal defect Gait disturbance Myopia Visual impairment Delayed speech and language development Flexion contracture Muscular hypotonia Muscle weakness Abnormality of the cerebral white matter Hypermetropia Increased variability in muscle fiber diameter 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 Congenital hip dislocation Congenital cataract Preauricular skin tag Encephalocele Cerebellar vermis hypoplasia Brain atrophy Generalized muscle weakness Abnormal cerebellum morphology Retinal detachment Pulmonic stenosis Low anterior hairline Hypopigmented skin patches Thoracic scoliosis Carious teeth Abnormality of the ribs Hypotension Postaxial polydactyly Iris coloboma Oral cleft Cleft upper lip Arachnodactyly Hypotrichosis Exotropia Papule Coloboma Sparse hair Facial palsy Cleft lip Telecanthus Proteinuria Carcinoma Hemiparesis Hyperpigmentation of the skin Retrognathia Disproportionate tall stature Abnormality of the sternum Colitis Vertebral fusion Agenesis of permanent teeth Long fingers Basal cell carcinoma Milia Inflammation of the large intestine Spina bifida Melanocytic nevus Nephritis Glomerulonephritis Relative macrocephaly Neoplasm of the skin Spina bifida occulta Hypogonadotrophic hypogonadism Short ribs Coarse facial features Kyphoscoliosis Increased intracranial pressure Esophageal atresia Anterior plagiocephaly Oxycephaly Aqueductal stenosis Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Carpal synostosis Hypopigmentation of hair Lambdoidal craniosynostosis Tarsal synostosis Hypermelanotic macule Broad hallux Short middle phalanx of finger Tracheoesophageal fistula Radial deviation of finger Cone-shaped epiphysis Trigonocephaly Abnormality of the head Parietal foramina Mandibular prognathia Micrognathia Polydactyly Abdominal pain Abnormality of the dentition Dysarthria Epicanthus Cryptorchidism Pain Cleft palate Neoplasm Craniofacial asymmetry Thimble-shaped middle phalanges of hand Low-frequency sensorineural hearing impairment Unicoronal synostosis Short middle phalanx of toe Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly CSF lymphocytic pleiocytosis


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