Microcephaly, and Migraine

Diseases related with Microcephaly and Migraine

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

Top matches:

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

Other less relevant matches:

COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Medium match NORRIE DISEASE

Norrie disease (ND) is a rare X-linked genetic vitreoretinal condition characterized by abnormal retinal development with congenital blindness. Common associated manifestations include sensorineural hearing loss and developmental delay, intellectual disability and/or behavioral disorders.

NORRIE DISEASE Is also known as episkopi blindness|norrie-warburg disease|atrophia bulborum hereditaria

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about NORRIE DISEASE

Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).

HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER Is also known as hyperimmunoglobinemia d with recurrent fever|hyper-igd syndrome|hyperimmunoglobulinemia d and periodic fever syndrome|partial mevalonate kinase deficiency|hids|periodic fever, dutch type|hyperimmunoglobulinemia d syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERIMMUNOGLOBULINEMIA D WITH PERIODIC FEVER

Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.

SAETHRE-CHOTZEN SYNDROME Is also known as acs3|acrocephalosyndactyly type 3|scs|acrocephaly, skull asymmetry, and mild syndactyly|acs iii|acrocephalosyndactyly, type iii|chotzen syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SAETHRE-CHOTZEN SYNDROME

Medium match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

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

Familial primary hypomagnesemia with normocalciuria and normocalcemia (FPHNN) is a form of familial primary hypomagnesemia (FPH), characterized by low serum magnesium (Mg) values but inappropriate normal urinary Mg values (i.e. renal hypomagnesemia). The typical symptoms are weakness of the limbs, vertigo, headaches, seizures, brisk tendon reflexes and mild to moderate psychomotor delay.

Related symptoms:

  • Seizures
  • Microcephaly
  • Ventriculomegaly
  • Headache
  • Obesity


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL PRIMARY HYPOMAGNESEMIA WITH NORMOCALCIURIA AND NORMOCALCEMIA

Top 5 symptoms//phenotypes associated to Microcephaly and Migraine

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
Ataxia Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Headache Muscle weakness Muscular hypotonia Nystagmus Myoclonus EEG abnormality Vertigo Fever Cognitive impairment Growth delay Cataract Cardiomyopathy Fatigue Pain Strabismus Protruding ear Hemiplegia Irritability Intellectual disability, moderate Dysarthria Hyperreflexia Vomiting Attention deficit hyperactivity disorder Diarrhea Abdominal pain Autism Blindness Nausea and vomiting Hypertelorism Visual impairment Dementia Scoliosis Neoplasm Failure to thrive Sensorineural hearing impairment Optic atrophy Nausea Depressivity Generalized hypotonia Tremor Generalized tonic-clonic seizures Stroke Generalized-onset seizure Developmental regression Mental deterioration Cerebral atrophy Behavioral abnormality Motor delay

Rare Symptoms - Less than 30% cases

Myalgia Muscle cramps Intestinal obstruction Optic neuritis Neuritis Posterior subcapsular cataract Anterior synechiae of the anterior chamber Hypoplasia of the iris Short stature Reduced consciousness/confusion Ptosis Hemiparesis Hypertension Retinal detachment Hepatomegaly Nephropathy Congenital cataract Corneal opacity Flexion contracture Retinopathy Abnormality of the nervous system Glaucoma Elevated serum creatine phosphokinase Microphthalmia Cerebellar atrophy Abnormal cochlea morphology Apathy Renal insufficiency Erythema Confusion Nyctalopia Hemiplegia/hemiparesis Abnormality of immune system physiology Aplasia/Hypoplasia of the cerebellum Limitation of joint mobility Cachexia Cerebral calcification Clonus Hallucinations Psychosis Hypotelorism Nephrotic syndrome Delayed puberty Vertebral fusion Rod-cone dystrophy Anxiety Purpura Cerebral cortical atrophy Diabetes mellitus Visual loss Malar flattening Hypertonia Exercise intolerance Constipation Cryptorchidism Encephalopathy Abnormality of mitochondrial metabolism Amblyopia Absence seizures Hyperhidrosis Paresthesia Dysmetria Ventriculomegaly Focal impaired awareness seizure Specific learning disability Progressive microcephaly Involuntary movements Cerebral visual impairment Myopathy Aggressive behavior Gait ataxia Intellectual disability, mild Dystonia Status epilepticus Anorexia Lethargy Abnormal cerebellum morphology Spasticity Generalized myoclonic seizures Focal-onset seizure Anemia Atonic seizures Hyperactive deep tendon reflexes Pallor Photophobia Mild hearing impairment Coma Premature closure of fontanelles Parietal foramina Skull asymmetry Duplication of the distal phalanx of hand Abnormal nasolacrimal system morphology Memory impairment Flat forehead Increased serum lactate Deviated nasal septum Narrow internal auditory canal Sensory impairment Amenorrhea Sudden cardiac death Adrenogenital syndrome Postural instability Craniofacial asymmetry Hip dysplasia Respiratory insufficiency Congenital adrenal hyperplasia Decreased body weight Lambdoidal craniosynostosis Generalized hirsutism Anterior plagiocephaly EMG abnormality Truncal ataxia Oxycephaly Cardiac arrest Abnormality of retinal pigmentation Gingival overgrowth Left ventricular hypertrophy Buphthalmos Neoplasm of the breast Hypertrichosis Atrial fibrillation Ventricular hypertrophy Pulmonary arterial hypertension Type II diabetes mellitus Polyneuropathy Abnormal hair pattern Craniofacial dysostosis Bilateral sensorineural hearing impairment Abnormality of the cardiovascular system Pigmentary retinopathy Proximal radio-ulnar synostosis Peripheral neuropathy Prominent crus of helix Delayed skeletal maturation Gastroesophageal reflux Acidosis Dyspnea Hypothyroidism Lacrimal duct stenosis Weight loss Adrenal hyperplasia Hypogonadism Osteoporosis Cerebellar hypoplasia Blepharospasm Hyporeflexia Proteinuria Areflexia Abnormality of the antihelix Arrhythmia Kyphosis Short columella Abnormality of the dentition Coronal craniosynostosis Type I diabetes mellitus Congestive heart failure Respiratory distress Abnormality of the skull Short neck Jaundice Bilateral cleft lip Renotubular dysgenesis Malabsorption Partial duplication of the distal phalanx of the 3rd finger Partial duplication of the distal phalanx of the 2nd finger Absent first metatarsal Cleft of chin Feeding difficulties Hirsutism Polymicrogyria Lactic acidosis Peripheral axonal neuropathy Skeletal muscle atrophy Ichthyosis Anal atresia Carious teeth Hypertrophic cardiomyopathy Ophthalmoplegia Gait disturbance Arthrogryposis multiplex congenita Dysphagia Pruritus Dilated cardiomyopathy Neurological speech impairment Abnormality of the liver Abnormality of the pinna Feeding difficulties in infancy Apnea Bilateral cleft lip and palate Hypogonadotrophic hypogonadism Hyperthyroidism Macular degeneration Dysesthesia Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Motor polyneuropathy Crohn's disease Episodic vomiting Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Gait imbalance Abnormality of the cerebellar vermis Hemeralopia Wolff-Parkinson-White syndrome Morphological abnormality of the inner ear Abnormal myelination Moderate global developmental delay Hypomagnesemia Generalized muscle weakness Poor speech Autistic behavior Obesity Malignant neoplasm of the central nervous system Cerebral palsy Cranial nerve paralysis Hydrocephalus Macrocephaly Prominent ear helix Morphological abnormality of the vestibule of the inner ear Abnormal macular morphology Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Cerebral ischemia Increased CSF lactate Pancreatitis Hypercalciuria Aphasia Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Mask-like facies Bifid scrotum Personality changes Ophthalmoparesis Hyponatremia Aortic aneurysm Bilateral ptosis Decreased nerve conduction velocity Dysphasia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Vestibular dysfunction Hyperkalemia Visual hallucinations Neonatal hypoglycemia Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Abnormality of visual evoked potentials Visual field defect Hashimoto thyroiditis Atopic dermatitis Drowsiness Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Thyroiditis Rhabdomyolysis Narrow nose Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Multiple lipomas Prolonged QT interval Shallow orbits Neutrophilia External ear malformation Hypopigmentation of the fundus Retinal arterial tortuosity Right hemiplegia Peripapillary atrophy Retinal arteriolar tortuosity Diffuse leukoencephalopathy Perivascular spaces Polycoria Rieger anomaly Arterial tortuosity Retinal hemorrhage Migraine with aura Porencephalic cyst Anterior segment developmental abnormality Thalamic hemorrhage Corneal neovascularization Supraventricular tachycardia Ectopia pupillae Increased intraocular pressure Posterior embryotoxon Infantile spasms Scotoma Congenital glaucoma Blurred vision Cerebral hemorrhage Intracranial hemorrhage Dysphonia Posterior leukoencephalopathy Intellectual disability, severe Spastic paraparesis Narrow nasal bridge Remnants of the hyaloid vascular system Retinal fold Retinoblastoma Venous insufficiency Abnormal pupil morphology Abnormality of the retinal vasculature Abnormality of the helix Retinal dysplasia Vitreoretinopathy Sclerocornea Abnormality of the vasculature Severe vision loss Abnormal retinal morphology Macrotia Self-injurious behavior Ectopia lentis Progressive hearing impairment Intellectual disability, progressive Opacification of the corneal stroma Stereotypy Intellectual disability, profound Sleep disturbance Thin vermilion border Retinal degeneration Abnormality of the eye Deeply set eye Leukoencephalopathy Paraparesis Shallow anterior chamber Psychomotor retardation Slurred speech Horizontal nystagmus Limb ataxia Lower limb spasticity Frequent falls Choreoathetosis Chorea Hemolytic anemia Dyskinesia Falls Abnormality of movement Obtundation status Focal clonic seizures Reticulocytosis Hemiclonic seizures Multifocal seizures Generalized tonic-clonic seizures with focal onset Neurodevelopmental delay Postnatal microcephaly Cutaneous photosensitivity Abnormality of extrapyramidal motor function Epileptic encephalopathy Febrile seizures Severe global developmental delay Abnormal pyramidal sign Hyperactivity Impulsivity Hand tremor Spastic tetraplegia Gastrointestinal dysmotility Tetraplegia Renal cyst Microcornea Hypopigmentation of the skin Hematuria Tachycardia Astigmatism Hypermetropia Abnormality of the cerebral white matter Facial palsy Dilatation Myopia Abnormal autonomic nervous system physiology Action tremor Generalized tonic-clonic seizures without focal onset Hypoglycorrhachia Upper limb dysmetria Focal aware seizure Jerky head movements Paroxysmal dystonia Paroxysmal dyskinesia Limb dysmetria Migraine without aura Abnormality of the head Torsion dystonia Episodic ataxia Exudative vitreoretinopathy Abnormal chorioretinal morphology Abnormality of digit Proptosis Finger syndactyly Broad forehead Prominent nasal bridge Microtia Craniosynostosis Hyperlordosis Low-set, posteriorly rotated ears Cleft lip Telecanthus Conductive hearing impairment High forehead Mandibular prognathia Brachycephaly Facial asymmetry Posteriorly rotated ears Clinodactyly of the 5th finger Abnormal heart morphology Clinodactyly Midface retrusion Abnormality of cardiovascular system morphology Syndactyly Abnormality of the skeletal system Brachydactyly Epicanthus Depressed nasal bridge Low-set ears Toe syndactyly Flat face Abnormal facial shape Increased intracranial pressure Long nose Delayed cranial suture closure Broad hallux Hallux valgus Open bite Epiphora Triphalangeal thumb Trigonocephaly Radioulnar synostosis Abnormality of pelvic girdle bone morphology Breast carcinoma Abnormality of the genitourinary system Sleep apnea Single transverse palmar crease Cutaneous syndactyly Plagiocephaly Narrow palate Coxa valga Elbow flexion contracture Bilateral single transverse palmar creases Low anterior hairline Broad thumb Abnormal form of the vertebral bodies Convex nasal ridge Dental malocclusion Hypoplasia of the maxilla Cleft palate Pharyngitis Leukocoria Splenomegaly Abdominal distention Retinal dystrophy Lymphadenopathy Infertility Papule Cough Skin rash Postnatal growth retardation Arthritis Hepatosplenomegaly Arthralgia Pneumonia Frontal bossing Gastrointestinal hemorrhage Vascular neoplasm Anterior chamber synechiae Neoplasm of the eye Uterine rupture Aplasia/Hypoplasia of the lens Retinopathy of prematurity Abnormality of the diencephalon Corneal degeneration Abnormal vitreous humor morphology Posterior synechiae of the anterior chamber Phthisis bulbi Erectile abnormalities Sepsis Aciduria Serositis Episodic fever Cervical lymphadenopathy Erysipelas Porokeratosis Increased IgA level Chills Recurrent aphthous stomatitis Peritonitis Large forehead Acrocyanosis Poor coordination Peripheral visual field loss Uveitis Subcapsular cataract Dehydration Amyloidosis Colitis Elevated erythrocyte sedimentation rate Hypermelanotic macule Leukocytosis Urticaria Conjunctivitis Vasculitis Recurrent pneumonia Long eyelashes Optic disc pallor Eczema Hypermagnesiuria


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