Macrocephaly, and Chorea

Diseases related with Macrocephaly and Chorea

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

Top matches:

Early-onset parkinsonism with intellectual deficit is a basal ganglia disorder characterised by parkinsonian-type symptoms (postural changes, tremor, rigidity), megalencephaly and variable intellectual deficit. Other signs are frontal bossing, persistent frontal lobe reflexes, strabismus and seizures. It has been described in three generations of one family. Transmission is X-linked, and the gene is located on chromosomal region Xq27.3-qter.

EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME Is also known as basal ganglion disorder with mental retardation|bgmr|waisman syndrome|parkinsonism, early-onset, with mental retardation|laxova-opitz syndrome|wsn

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cognitive impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EARLY-ONSET PARKINSONISM-INTELLECTUAL DISABILITY SYNDROME

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

X-linked intellectual disability-psychosis-macroorchidism syndrome is characterised by the association of moderate intellectual deficit with manic-depressive psychosis, pyramidal signs and macroorchidism. It has been described in 10 males. The syndrome is transmitted as an X-linked trait and has been associated with a mutation in the MECP2 gene, localised to segment 28 of the long arm of the X chromosome (Xq28).

X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME Is also known as lindsay-burn syndrome|mental retardation, x-linked 79|mrx79|ppmx|mental retardation, x-linked, with spasticity|mrx16|ppm-x|mental retardation with psychosis, pyramidal signs, and macroorchidism|mental retardation, x-linked 16

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-PSYCHOSIS-MACROORCHIDISM SYNDROME

Other less relevant matches:

Atelosteogenesis I is a perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

ATELOSTEOGENESIS TYPE I Is also known as mecp2 duplication syndrome|aoi|giant cell chondrodysplasia|mental retardation, x-linked, with recurrent respiratory infections|spondylo-humero-femoral dysplasia|atelosteogenesis type 1|mental retardation, x-linked, syndromic, lubs type|ao1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATELOSTEOGENESIS TYPE I

15q13.3 microdeletion (microdel15q13.3) syndrome is characterized by a wide spectrum of neurodevelopmental disorders with no or subtle dysmorphic features.

15Q13.3 MICRODELETION SYNDROME Is also known as del(15)(q13.3)|chromosome 15q13.3 microdeletion syndrome|monosomy 15q13.3

Related symptoms:

  • Seizures
  • Schizophrenia
  • Bipolar affective disorder


SOURCES: MESH MENDELIAN

More info about 15Q13.3 MICRODELETION SYNDROME

Glutaryl-CoA dehydrogenase (GCDH) deficiency (GDD) is an autosomal recessive neurometabolic disorder clinically characterized by encephalopathic crises resulting in striatal injury and a severe dystonic dyskinetic movement disorder.

GLUTARYL-COA DEHYDROGENASE DEFICIENCY Is also known as ga i|glutaric aciduria i|gcdhd|ga1|glutaryl-coenzyme a dehydrogenase deficiency|glutaric aciduria type 1|glutaric acidemia type 1|glutaryl-coa dehydrogenase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about GLUTARYL-COA DEHYDROGENASE DEFICIENCY

In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency|glycosylphosphatidylinositol biosynthesis defect 3|pign-cdg|gpibd3

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Pontocerebellar hypoplasia type 2 (PCH2) is the most common subtype of pontocerebellar hypoplasia (see this term) characterized by neonatal onset and a lack of voluntary motor development and later progressive microencephaly, generalized clonus, development of chorea and spasticity. The majority of patients will not reach puberty.

PONTOCEREBELLAR HYPOPLASIA TYPE 2 Is also known as pch2

Related symptoms:

  • Seizures
  • Microcephaly
  • Visual impairment
  • Dystonia
  • Cerebellar hypoplasia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 2

Early infantile epileptic encephalopathy-17 is a severe neurologic disorder characterized by onset of intractable seizures in the first weeks or months of life and usually associated with EEG abnormalities. Affected infants have very poor psychomotor development and may have brain abnormalities, such as cerebral atrophy or thin corpus callosum. Some patients may show involuntary movements (summary by Nakamura et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 17; EIEE17

Top 5 symptoms//phenotypes associated to Macrocephaly and Chorea

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

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Choreoathetosis Tremor Absent speech Ataxia Microcephaly Dystonia Hyperreflexia Motor delay Scoliosis Dyskinesia Dementia Delayed myelination Muscular hypotonia Cerebral calcification Progressive spasticity Developmental regression Intellectual disability, severe Muscular hypotonia of the trunk Frontal bossing EEG abnormality Dysphagia Macrotia Rigidity Gait disturbance Abnormality of extrapyramidal motor function Delayed speech and language development Cognitive impairment Encephalopathy High palate Neurological speech impairment Short neck

Rare Symptoms - Less than 30% cases

Hypertelorism Cerebral atrophy Bruxism Poor coordination Pneumonia Drooling Tetraplegia Abnormal pyramidal sign Nystagmus Focal-onset seizure Low-set ears Constipation Depressed nasal bridge Failure to thrive Gliosis Abnormality of eye movement Abnormality of the cerebral white matter Hyperhidrosis Vomiting Hyporeflexia Feeding difficulties Leukoencephalopathy Abnormal facial shape Tented upper lip vermilion Myopathy Encephalitis Respiratory tract infection Gastroesophageal reflux Hypothyroidism Brachycephaly Hypoplasia of the corpus callosum Patent ductus arteriosus Depressivity Short nose Kyphosis Facial hypotonia Cryptorchidism Parkinsonism Prominent forehead Cerebellar hypoplasia Gait ataxia Poor speech Neurodegeneration Hydrocephalus Abnormality of movement Dysarthria Strabismus Ventriculomegaly Coarse facial features Self-injurious behavior Abnormality of the dentition Wide mouth Megalencephaly Growth delay Micrognathia Flexion contracture Shuffling gait Epileptic encephalopathy Clonus Leukodystrophy Muscle stiffness Diplopia Narrow forehead Abnormal autonomic nervous system physiology Cerebellar hemisphere hypoplasia Extrapyramidal dyskinesia Amenorrhea Sleep apnea Dysphonia Precocious puberty Oral-pharyngeal dysphagia Emotional lability Dysphasia Bowel incontinence Muscle fibrillation Peripheral demyelination Hypsarrhythmia Hypotension Respiratory insufficiency Acute encephalopathy Infantile encephalopathy Retinal hemorrhage Glutaric aciduria Glutaric acidemia Macrocephaly at birth Symmetrical progressive peripheral demyelination Ketonemia Subdural hemorrhage Muscle weakness Ptosis Hypertension Agenesis of corpus callosum Sudden cardiac death Diabetes mellitus Respiratory failure Weight loss Athetosis Osteopenia Facial palsy Hyperlordosis Cough Nausea and vomiting Involuntary movements Drowsiness Dysmetria Sleep disturbance Atrophy/Degeneration affecting the brainstem Pseudobulbar signs Increased CSF protein Anal atresia Polyhydramnios Neonatal hypotonia Decreased plasma carnitine Prominent occiput Hydronephrosis Cupped ear Overfolded helix Cleft lip Abnormality of the pinna Abnormal cardiac septum morphology Prominent nasal bridge Synophrys Thin vermilion border Posteriorly rotated ears Flat face Focal impaired awareness seizure Pulmonary hypoplasia Short distal phalanx of finger Short foot Brain atrophy Patent foramen ovale Abnormality of the urinary system Amblyopia Vesicoureteral reflux Open mouth Congenital diaphragmatic hernia Upslanted palpebral fissure Hernia Hypothermia Anteverted nares Bulbar signs Aqueductal stenosis Hypersomnia Large face Progressive macrocephaly Recurrent singultus Hyperpigmented nevi Microcoria Diffuse demyelination of the cerebral white matter Progressive microcephaly Cleft palate Epicanthus Cerebellar vermis hypoplasia Cystic hygroma Visual impairment Large fleshy ears Atrial septal defect Cerebellar atrophy Hypertonia Splenomegaly Hoarse cry Vertical nystagmus Hydrocele testis Long philtrum Limb hypertonia Anal stenosis Fasting hypoglycemia Fever Dilation of lateral ventricles Restlessness Genu valgum Paraplegia Small hand Apraxia Spastic tetraplegia Psychosis Clumsiness Postnatal microcephaly Spastic gait Paraparesis Spastic paraparesis Macroorchidism Pes cavus Slender build Excessive salivation Progressive spastic paraparesis Mania Juvenile cataract Downslanted palpebral fissures Malar flattening Recurrent infections Midface retrusion Abnormality of metabolism/homeostasis Recurrent respiratory infections Narrow mouth Spastic paraplegia Babinski sign Anxiety Deeply set eye Bradykinesia Slurred speech Resting tremor Lewy bodies Cogwheel rigidity Sensorineural hearing impairment Inguinal hernia Cerebral cortical atrophy Mandibular prognathia High forehead Difficulty walking Aggressive behavior Intellectual disability, mild Protruding ear Long face Thick vermilion border Prominent nose Dandy-Walker malformation Narrow face Pointed chin Aplasia/Hypoplasia of the cerebellum Basal ganglia calcification High-frequency hearing impairment Abnormality of the basal ganglia Cataract Autism Autistic behavior Abnormality of the retinal vasculature Exercise intolerance Stroke Vertigo Inability to walk Metabolic acidosis Coma Abnormal cerebellum morphology Migraine Aciduria Neuronal loss in central nervous system Dehydration Large fontanelles Joint dislocation Irritability Cerebral palsy Hyperkinesis Hemiplegia Intracranial hemorrhage Spastic diplegia Malnutrition Opisthotonus Bulbar palsy Malignant hyperthermia Generalized dystonia Ketonuria Cerebral ischemia Paralysis Feeding difficulties in infancy Severe global developmental delay Hypoventilation Intellectual disability, profound Aganglionic megacolon Lower limb spasticity Stereotypy Aspiration Severe muscular hypotonia Infantile muscular hypotonia Optic nerve hypoplasia Poor head control Premature ovarian insufficiency Myotonia Poor eye contact Central hypotonia Hypoglycemia Chronic constipation Central hypoventilation Infantile axial hypotonia Hostility Schizophrenia Bipolar affective disorder Hepatomegaly Cardiomyopathy Edema Headache Dilatation Acidosis Generalized tonic seizures


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