Macrocephaly, and Migraine

Diseases related with Macrocephaly and Migraine

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

Top matches:

Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.

ATYPICAL TERATOID RHABDOID TUMOR Is also known as atrt

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL TERATOID RHABDOID TUMOR

Medium match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA 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

Other less relevant matches:

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS.

EHLERS-DANLOS SYNDROME, VASCULAR TYPE Is also known as ehlers-danlos syndrome, type iv, autosomal dominant|eds type 4|ehlers-danlos syndrome type 4|ehlers-danlos syndrome type iv|ehlers-danlos syndrome, ecchymotic type|ehlers-danlos syndrome, arterial type|eds4|sack-barabas syndrome|eds iv|ehlers-danlos syndr

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Pain
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, VASCULAR TYPE

Medium match DRAVET SYNDROME

Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.

DRAVET SYNDROME Is also known as smei|severe myoclonus epilepsy of infancy|ds|severe myoclonic epilepsy of infancy|dravet syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DRAVET SYNDROME

Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Enlarged parietal foramina (EPF) is a developmental defect, characterized by variable intramembranous ossification defects of the parietal bones, which is either asymptomatic, symptomatic (headaches, nausea, vomiting, intellectual disability) or associated with other pathologies.

ENLARGED PARIETAL FORAMINA Is also known as fpp|cranium bifidum occultum|fenestrae parietales symmetricae|hereditary cranium bifidum|catlin marks|pfm|parietal foramina, symmetric|cranium bifidum, hereditary|symmetric parietal foramina|foramina parietalia permagna

Related symptoms:

  • Seizures
  • Cleft palate
  • Macrocephaly
  • Headache
  • Confusion


SOURCES: OMIM ORPHANET MENDELIAN

More info about ENLARGED PARIETAL FORAMINA

This newly described syndrome is characterized by osteosclerosis, developmental delay and craniosynostosis (see this term).

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Visual impairment
  • Macrocephaly
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about OSTEOSCLEROSIS-DEVELOPMENTAL DELAY-CRANIOSYNOSTOSIS SYNDROME

Top 5 symptoms//phenotypes associated to Macrocephaly and Migraine

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Fever Hearing impairment Muscular hypotonia Generalized hypotonia Muscle weakness Headache Irritability Motor delay Vertigo Premature birth Joint dislocation Exercise intolerance Abnormal cerebellum morphology Dyskinesia Stroke Abnormality of movement Spasticity Cardiomyopathy Developmental regression Dystonia EEG abnormality Encephalopathy Tremor Vomiting Myopathy Visual impairment Anemia Nausea and vomiting Mental deterioration Abnormal facial shape Myoclonus Fatigue Edema Microcephaly Hepatomegaly Growth delay

Rare Symptoms - Less than 30% cases

Feeding difficulties in infancy Abnormality of eye movement Generalized tonic-clonic seizures Optic atrophy Hypoglycemia Acidosis Cerebral atrophy Generalized myoclonic seizures Dilatation Lethargy Severe global developmental delay Abnormal pyramidal sign Behavioral abnormality Coma Metabolic acidosis Atonic seizures Hyperreflexia Ptosis Talipes equinovarus Strabismus Nystagmus Respiratory insufficiency Absence seizures Focal impaired awareness seizure Infantile encephalopathy Generalized-onset seizure Cardiac arrest Febrile seizures Horizontal nystagmus Hemiplegia Leukoencephalopathy Choreoathetosis Abnormality of extrapyramidal motor function Gliosis Focal-onset seizure Progressive microcephaly Hyperhidrosis Dysphagia Abnormal joint morphology Hydrocephalus Cerebral palsy Reduced consciousness/confusion Sensorineural hearing impairment Blindness Proptosis Myalgia Arthritis Increased intracranial pressure Pain Hypertelorism Pallor Failure to thrive Feeding difficulties Gingival overgrowth Gingival recession Abnormality of the face Hemoptysis Subcutaneous nodule Colonic diverticula Telangiectasia Abnormality of the gingiva Abnormal heart valve morphology Osteoarthritis Prematurely aged appearance Abnormal oral frenulum morphology Alopecia of scalp Gastrointestinal infarctions Congenital hip dislocation Short chin Osteolysis Thin skin Internal hemorrhage Premature loss of teeth Renovascular hypertension High, narrow palate Abnormal bleeding Abnormality of the skin Pulmonary artery aneurysm Normal pressure hydrocephalus Peripheral arteriovenous fistula Absent earlobe Abnormal intestine morphology Arteriovenous fistula Cigarette-paper scars Microdontia Arterial dissection Mitral valve prolapse Sprengel anomaly Blue sclerae Dermal translucency Ascending tubular aorta aneurysm Subarachnoid hemorrhage Dilatation of the cerebral artery Hypokalemia Redundant skin Periodontitis Aortic dissection Gingivitis Transient ischemic attack Aortic aneurysm Rheumatoid arthritis Fragile skin Melanocytic nevus Aplasia/Hypoplasia of the eyebrow Narrow nose Macule Narrow nasal bridge Telangiectasia of the skin Abnormal eyelash morphology Abnormally large globe Scleroderma Sleep apnea Periorbital edema Excessive wrinkled skin Abnormality of hair texture Ocular pain Arterial stenosis Premature loss of primary teeth Esophageal atresia Abnormality of the urinary system Pneumothorax Hematochezia Bladder diverticulum Aplasia/Hypoplasia of the abdominal wall musculature Abnormal pupil morphology Aplasia/Hypoplasia of the earlobes Osteolytic defects of the phalanges of the hand Keratoconus Varicose veins Tinnitus Multifocal seizures Coronary artery aneurysm Upper limb dysmetria Nausea Attention deficit hyperactivity disorder Photophobia Autism Abdominal pain Diarrhea Generalized tonic-clonic seizures without focal onset Hypoglycorrhachia Focal aware seizure Abnormal autonomic nervous system physiology Jerky head movements Paroxysmal dystonia Paroxysmal dyskinesia Limb dysmetria Migraine without aura Abnormality of the head Torsion dystonia Episodic ataxia Anorexia Abnormality of mitochondrial metabolism Hand tremor Symmetrical, oval parietal bone defects Mild global developmental delay Thickened calvaria Increased bone mineral density Broad forehead Craniosynostosis Facial palsy High forehead Brachycephaly Parietal foramina Gastrointestinal dysmotility Aplasia cutis congenita of scalp Calvarial skull defect Spina bifida occulta Spina bifida Encephalocele Cleft upper lip Confusion Cleft palate Action tremor Reticulocytosis Molluscoid pseudotumors Hemothorax Neurodevelopmental delay Cerebral visual impairment Postnatal microcephaly Cutaneous photosensitivity Status epilepticus Epileptic encephalopathy Hyperactivity Hypermobility of distal interphalangeal joints Premature delivery because of cervical insufficiency or membrane fragility Flat face Cystocele Hypoplastic lacrimal duct Arteriovenous fistulas of celiac and mesenteric vessels Uterine prolapse Uterine rupture Arterial rupture Foot acroosteolysis Spontaneous pneumothorax Generalized tonic-clonic seizures with focal onset Hemiclonic seizures Hyperactive deep tendon reflexes Hemolytic anemia Impulsivity Slurred speech Limb ataxia Lower limb spasticity Frequent falls Involuntary movements Specific learning disability Chorea Falls Focal clonic seizures Paresthesia Dysmetria Intellectual disability, moderate Aggressive behavior Gait ataxia Intellectual disability, mild Dysarthria Obtundation status Psychomotor retardation Bruising susceptibility Nemaline bodies Joint hypermobility Malnutrition Dilation of lateral ventricles Abnormality of the retinal vasculature Cerebral ischemia Ketonuria Generalized dystonia Malignant hyperthermia Bulbar palsy Opisthotonus Spastic diplegia Fasting hypoglycemia Intracranial hemorrhage Encephalitis Hyperkinesis Large fontanelles Dehydration Neuronal loss in central nervous system Aciduria Delayed myelination Decreased plasma carnitine Acute encephalopathy Abnormality of the cerebral white matter Skeletal muscle atrophy Areflexia Patent ductus arteriosus Hernia Renal insufficiency Congestive heart failure Cerebellar atrophy Atrial septal defect Respiratory distress Intrauterine growth retardation Retinal hemorrhage Peripheral neuropathy Micrognathia Subdural hemorrhage Ketonemia Symmetrical progressive peripheral demyelination Macrocephaly at birth Glutaric acidemia Glutaric aciduria Inability to walk Neurological speech impairment Babinski sign Skeletal dysplasia Vasculitis Meningitis Overgrowth Lymphadenopathy Papule Skin rash Hepatosplenomegaly Arthralgia Splenomegaly Reduced bone mineral density Frontal bossing Brachydactyly Malignant neoplasm of the central nervous system Hemiplegia/hemiparesis Apathy Cranial nerve paralysis Cerebral calcification Limitation of joint mobility Purpura Urticaria Paralysis Abnormality of neutrophils Respiratory tract infection Rigidity Prominent forehead Dementia Gait disturbance Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Inflammatory abnormality of the eye Leukocytosis Elevated C-reactive protein level Delayed closure of the anterior fontanelle Abnormal thrombocyte morphology Juvenile rheumatoid arthritis Uveitis Amyloidosis Arthropathy Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Hyporeflexia Pneumonia Thin vermilion border Decreased activity of mitochondrial respiratory chain Abnormal mitochondria in muscle tissue Congenital lactic acidosis Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Biventricular hypertrophy Axial dystonia Stiff neck Exercise-induced lactic acidemia Acute pancreatitis Cerebral edema Severe lactic acidosis Corpus callosum atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Aspiration pneumonia Cardiorespiratory arrest Acute necrotizing encephalopathy Short stature Progressive encephalopathy Narrow mouth Abnormality of skin pigmentation Joint hyperflexibility Carious teeth Hip dislocation Protruding ear Telecanthus Deeply set eye Umbilical hernia Glaucoma Cryptorchidism Alopecia Inguinal hernia Pectus excavatum Hypospadias Abnormality of cardiovascular system morphology Abnormality of the dentition Epicanthus Hypertension Flexion contracture Mitochondrial myopathy Optic neuropathy Agenesis of corpus callosum Limb muscle weakness Increased serum lactate Brain atrophy Progressive cerebellar ataxia Hepatic steatosis Hepatic failure Lactic acidosis Stage 5 chronic kidney disease Talipes Retinopathy Pigmentary retinopathy Abnormality of the liver Apnea Abnormality of the eye Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Proximal muscle weakness Kyphoscoliosis Respiratory failure Cyanosis Optic disc pallor Renal tubular acidosis Incoordination Basal ganglia calcification Weak cry Poor eye contact Progressive spasticity Pericardial effusion Global brain atrophy Adrenal insufficiency Oral-pharyngeal dysphagia Ragged-red muscle fibers Congenital diaphragmatic hernia Shock Pancreatitis Aspiration Leukodystrophy Wide anterior fontanel Left ventricular hypertrophy Ventricular hypertrophy Coarctation of aorta Cardiomegaly Broad jaw


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