Dysarthria, and Ischemic stroke

Diseases related with Dysarthria and Ischemic stroke

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

Top matches:

High match DYSTONIA 16

Dystonia 16 (DYT16) is a very rare and newly discovered movement disorder which is characterized by early-onset progressive limb dystonia, laryngeal and oromandibular dystonia, and parkinsonism.

DYSTONIA 16 Is also known as dyt16|early-onset dystonia parkinsonism

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Pain
  • Cognitive impairment
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about DYSTONIA 16

Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

High 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

Other less relevant matches:

High match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Familial thrombocytosis is a type of thrombocytosis, a sustained elevation of platelet numbers, which affects the platelet/megakaryocyte lineage and may create a tendency for thrombosis and hemorrhage but does not cause myeloproliferation.

FAMILIAL THROMBOCYTOSIS Is also known as familial thrombocythemia|hereditary thrombocythemia

Related symptoms:

  • Seizures
  • Dysarthria
  • Splenomegaly
  • Headache
  • Hyperhidrosis


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THROMBOCYTOSIS

Medium match SNEDDON SYNDROME

Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Medium match CADASIL

CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). ReviewsWarner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment. Genetic Heterogeneity of Parkinson DiseaseSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM ) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA ), respectively, on 4q22; PARK5 (OMIM ), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM ), caused by mutation in the LRRK2 gene (OMIM ) on 12q12; PARK11 (OMIM ), caused by mutation in the GIGYF2 gene (OMIM ) on 2q37; PARK13 (OMIM ), caused by mutation in the HTRA2 gene (OMIM ) on 2p13; PARK17 (OMIM ), caused by mutation in the VPS35 gene (OMIM ) on 16q11; and PARK18 (OMIM ), caused by mutation in the EIF4G1 gene (OMIM ) on 3q27.Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM ), caused by mutation in the gene encoding parkin (PARK2 ) on 6q26; PARK6 (OMIM ), caused by mutation in the PINK1 gene (OMIM ) on 1p36; PARK7 (OMIM ), caused by mutation in the DJ1 gene (PARK7 ) on 1p36; PARK14 (OMIM ), caused by mutation in the PLA2G6 gene (OMIM ) on 22q13; PARK15 (OMIM ), caused by mutation in the FBXO7 gene (OMIM ) on 22q12-q13; PARK19A (OMIM ) and PARK19B (see {615528}), caused by mutation in the DNAJC6 gene (OMIM ) on 1p32; and PARK20 (OMIM ), caused by mutation in the SYNJ1 gene (OMIM ) on 21q22.PARK3 (OMIM ) has been mapped to chromosome 2p13; PARK10 (OMIM ) has been mapped to chromosome 1p34-p32; PARK16 (OMIM ) has been mapped to chromosome 1q32. See also PARK21 (OMIM ). A locus on the X chromosome has been identified (PARK12 ). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see {556500}). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM ), MAPT (OMIM ), MC1R (OMIM ), ADH1C (OMIM ), and genes at the HLA locus (see, e.g., HLA-DRA, {142860}). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect (Hamza et al., 2010).Susceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM ), ATXN3 (OMIM ), TBP (OMIM ), and ATXN8OS (OMIM ) genes.

PARKINSON DISEASE, LATE-ONSET; PD Is also known as park

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Tremor
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE, LATE-ONSET; PD

MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease (see this term) characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.

INHERITED CREUTZFELDT-JAKOB DISEASE Is also known as inherited cjd

Related symptoms:

  • Seizures
  • Nystagmus
  • Muscle weakness
  • Tremor
  • Depressivity


SOURCES: ORPHANET MENDELIAN

More info about INHERITED CREUTZFELDT-JAKOB DISEASE

Top 5 symptoms//phenotypes associated to Dysarthria and Ischemic stroke

Symptoms // Phenotype % cases
Stroke Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Depressivity Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Ischemic stroke. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hemiparesis

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Hemiplegia Global developmental delay Confusion Transient ischemic attack Vertigo Cerebral ischemia Ataxia Developmental regression Headache Personality changes Dementia Pain Dystonia Elevated serum creatine phosphokinase Hypertonia Dysphagia Dysmetria Hearing impairment Hyperreflexia Migraine Muscle weakness Stroke-like episode Visual impairment Hypertension Behavioral abnormality Bradykinesia Visual field defect Aphasia Delayed speech and language development Gait disturbance Nausea Coma Restlessness Hemianopia Postural instability Dysphasia Nystagmus Paresthesia Sensorineural hearing impairment Attention deficit hyperactivity disorder Motor delay Mental deterioration Fever Anxiety Myopathy Vomiting Gait ataxia Cerebral cortical atrophy Constipation Involuntary movements Memory impairment Cerebellar hypoplasia Myocardial infarction Amaurosis fugax Spasticity Hallucinations Babinski sign Cataract Abnormal pyramidal sign

Rare Symptoms - Less than 30% cases

Type II diabetes mellitus Drowsiness Tubulointerstitial abnormality Loss of consciousness Hypertrophic cardiomyopathy Proteinuria Apathy Myalgia EEG abnormality Photophobia Gastroesophageal reflux Abnormal autonomic nervous system physiology Hypothyroidism Mask-like facies Hypercalciuria Autism Weight loss Arterial stenosis Abnormality of nervous system morphology Phonophobia Abdominal pain Gait imbalance Diabetes mellitus Osteoporosis Myoclonus Feeding difficulties in infancy Peripheral arterial stenosis Thrombocytosis Malabsorption Nephropathy Insomnia Psychosis Ventricular hypertrophy Gingival overgrowth Intellectual disability, mild Migraine with aura Abnormality of visual evoked potentials Abnormal cerebellum morphology Truncal ataxia Hypogonadotrophic hypogonadism Nausea and vomiting Pulmonary arterial hypertension Schizophrenia Carious teeth Chorea Generalized tonic-clonic seizures Pruritus Abnormality of the cardiovascular system Neurological speech impairment Retinal arteriolar tortuosity Facial palsy Tubulointerstitial nephritis Protruding ear Sudden cardiac death Neuronal loss in central nervous system Delayed skeletal maturation Tetraparesis Growth delay Microcephaly Short stature Irritability Spastic hemiparesis Autistic behavior Paralysis Facial paralysis Posterior embryotoxon Cerebral hemorrhage Intracranial hemorrhage Leukoencephalopathy Mitral valve prolapse Muscular hypotonia Muscle cramps Polymicrogyria Cerebellar atrophy Ventriculomegaly Anemia Strabismus Sleep disturbance Chest pain Limb dystonia Dysphonia Parkinsonism Abnormality of extrapyramidal motor function Rigidity Failure to thrive Delusions Kyphosis Visual loss Ptosis Intellectual disability, moderate Respiratory distress Congestive heart failure Encephalopathy Abnormality of the dentition Blindness Feeding difficulties Peripheral neuropathy Renal insufficiency Abnormal renal morphology Subvalvular aortic stenosis Portal hypertension Recurrent otitis media Open mouth Lacrimation abnormality Bladder diverticulum Cystic renal dysplasia Peripheral pulmonary artery stenosis Adducted thumb Mitral regurgitation Decreased plasma carnitine Periorbital fullness Peptic ulcer Abnormal form of the vertebral bodies Abnormality of refraction Dyslexia Villous atrophy Enuresis Abnormality of the cerebral vasculature Abnormality of the neck Large earlobe Thick lower lip vermilion Dysgraphia Periorbital edema Colonic diverticula Cholelithiasis Synostosis of joints Nocturia Obsessive-compulsive trait Aortic arch aneurysm Incoordination Coarctation of aorta Overriding aorta Abnormality of pelvic girdle bone morphology Abnormality of the ankles Vascular tortuosity Cardiomegaly Renal duplication Rectal prolapse Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Hypsarrhythmia Renal hypoplasia Small nail Chronic constipation Redundant skin Right ventricular hypertrophy Down-sloping shoulders Hypoplasia of the zygomatic bone Glucose intolerance Open bite Infantile muscular hypotonia Pointed chin Hemivertebrae Sacral dimple Polyuria Nephrocalcinosis Bicuspid aortic valve Abnormality of dental enamel Abnormality of the fingernails Spina bifida occulta Cutis laxa Widely spaced teeth Hallux valgus Failure to thrive in infancy Tracheoesophageal fistula Hypoplastic toenails Progressive hearing impairment Abnormality of dental morphology Unilateral renal agenesis Obsessive-compulsive behavior Chronic otitis media Radioulnar synostosis Abnormal dermatoglyphics Nephritis Precocious puberty Increased body weight Increased bone mineral density Blue irides Arnold-Chiari type I malformation Vocal cord paralysis Recurrent urinary tract infections Abnormality of the voice Multiple renal cysts Patellar dislocation Abnormality of the vasculature Pulmonary artery stenosis Nephrolithiasis Poor coordination Reduced bone mineral density Soft skin Nevus flammeus Abnormality of lipid metabolism Abnormality of the bladder Megalocornea Amblyopia Polycystic ovaries Hoarse voice Hypercalcemia Facial cleft Arnold-Chiari malformation Prematurely aged appearance Narrow face High hypermetropia Celiac disease Vertebral segmentation defect Premature graying of hair Aortic valve stenosis Lower limb muscle weakness Renal artery stenosis Subdural hemorrhage Apraxia Edema Micrographia Short stepped shuffling gait Substantia nigra gliosis Weak voice Kinetic tremor Lewy bodies Frontotemporal dementia Orthostatic hypotension Resting tremor Urinary urgency Alzheimer disease Hypotension Scintillating scotoma Diplopia Nonarteritic anterior ischemic optic neuropathy Recurrent subcortical infarcts Abulia Subcortical dementia Focal sensory seizure Diffuse leukoencephalopathy Subcutaneous hemorrhage Mania Perseveration Pseudobulbar paralysis Varicose veins Optic neuropathy Impaired pain sensation Amyloidosis Intention tremor Tinnitus Scotoma Spastic dysarthria Vestibular nystagmus Amyloidosis of peripheral nerves Poor visual behavior for age Diffuse spongiform leukoencephalopathy Progressive forgetfulness Akinetic mutism Loss of facial expression Abnormal pupillary function Progressive extrapyramidal muscular rigidity Focal T2 hyperintense basal ganglia lesion Trigeminal neuralgia Central nervous system degeneration Hypersomnia Astrocytosis Senile plaques Blurred vision Progressive cerebellar ataxia Severe hearing impairment Episodic ataxia Borderline personality disorder Migraine without aura Personality disorder Transient unilateral blurring of vision Clumsiness Supranuclear gaze palsy Abnormality of vision Slurred speech Emotional lability Global brain atrophy Increased CSF protein Short attention span Bulbar palsy Abnormal electroretinogram Coronary artery stenosis Medial flaring of the eyebrow Hyperhidrosis Splenomegaly Atrophy/Degeneration involving the corticospinal tracts Vocal cord dysfunction Descending aorta hypoplasia Functional abnormality of male internal genitalia Stellate iris Dyssynergia Early onset of sexual maturation Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Abnormality of the diencephalon Syncope Abnormal social behavior Hyperacusis Pelvic kidney Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa Renovascular hypertension Flat cornea Abnormal carotid artery morphology Supravalvular aortic stenosis Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal bleeding Spontaneous abortion Cranial nerve paralysis Abnormality of the eye Shock Atherosclerosis Spastic tetraparesis Recurrent pneumonia Peripheral demyelination Abnormality of the skin Urinary incontinence Brain atrophy Tetraplegia Sensory neuropathy Inability to walk Hypotelorism Abnormality of eye movement Pallor Hypoglycemia Venous thrombosis Heart murmur Myelodysplasia Acute myeloid leukemia Arterial thrombosis Chronic myelogenous leukemia Vasculitis Systemic lupus erythematosus Cutis marmorata Lupus anticoagulant Atrophic scars Acrocyanosis Arteriovenous malformation Thromboembolic stroke Vascular skin abnormality Antiphospholipid antibody positivity Hypoplasia of penis Cryptorchidism Narrow forehead Anorexia Ragged-red muscle fibers Reduced tendon reflexes External ophthalmoplegia Pancreatitis Macular degeneration Purpura Exercise intolerance Type I diabetes mellitus Generalized hirsutism EMG abnormality Cardiac arrest Clonus Cerebral visual impairment Abnormality of retinal pigmentation Left ventricular hypertrophy Mutism Decreased body weight Hypertrichosis Atrial fibrillation Status epilepticus Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Pigmentary retinopathy Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Increased serum lactate Sensory impairment Hypopigmented skin patches Goiter Polyneuropathy Focal segmental glomerulosclerosis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Glomerulopathy Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Hyperkalemia Vestibular dysfunction Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Hemiplegia/hemiparesis Hyperkinesis Bifid scrotum Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Bilateral ptosis Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Generalized myoclonic seizures Hirsutism Abnormality of immune system physiology Dilatation Schizencephaly Pontocerebellar atrophy Primitive reflex Porencephalic cyst Nuclear cataract Hypoplasia of the iris Opisthotonus Cortical dysplasia Drooling Cerebral palsy Exotropia Renal cyst Hematuria Hemolytic anemia Hydrocephalus Antenatal intracerebral hemorrhage Retrocollis Limb pain Facial grimacing Lower limb pain Laryngeal dystonia Orofacial dyskinesia Morphological abnormality of the pyramidal tract Generalized dystonia Akinesia Postural tremor Language impairment Torticollis Dyskinesia Unsteady gait Perivascular spaces Hypertelorism Lactic acidosis Jaundice Peripheral axonal neuropathy Ichthyosis Anal atresia Delayed puberty Congenital cataract Ophthalmoplegia Arthrogryposis multiplex congenita Lethargy Dilated cardiomyopathy Nyctalopia Abnormality of the liver Erythema Abnormality of the pinna Apnea Acidosis Hepatomegaly Dyspnea Hypogonadism Rod-cone dystrophy Hyporeflexia Areflexia Arrhythmia Cerebral atrophy Diarrhea Cardiomyopathy Short neck Respiratory insufficiency Fatigue Optic atrophy Skeletal muscle atrophy Thyroiditis Primary adrenal insufficiency Tetralogy of Fallot Obesity Coarse facial features Arthralgia Osteopenia Kyphoscoliosis Macrotia High forehead Micropenis Glaucoma Recurrent respiratory infections Clinodactyly of the 5th finger Inguinal hernia Abnormal heart morphology Patent ductus arteriosus Pectus excavatum Hernia Pes planus Absent speech Midface retrusion Malar flattening Long philtrum Short nose Atrial septal defect Ventricular septal defect Macrocephaly Intrauterine growth retardation Myopia Wide nasal bridge Epicanthus Depressed nasal bridge Flexion contracture Umbilical hernia Joint laxity Abnormal facial shape Smooth philtrum Dehydration Microdontia Renal agenesis Otitis media Esotropia Dental malocclusion Vesicoureteral reflux Full cheeks Macroglossia Broad nasal tip Hypodontia Everted lower lip vermilion Thick vermilion border Oral cleft Joint hyperflexibility Cleft lip Genu valgum Pulmonic stenosis Corneal opacity Small for gestational age Broad forehead Abnormal cardiac septum morphology Scarring Blepharophimosis Craniosynostosis Wide mouth Joint stiffness Hyperlordosis Abnormality of the kidney Low-set, posteriorly rotated ears Cleft palate Micrognathia Pulmonary embolism Visual hallucinations Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Anterior hypopituitarism Reduced consciousness/confusion Wolff-Parkinson-White syndrome Increased CSF lactate Renal tubular dysfunction Psychomotor deterioration Aortic dissection Facial diplegia Cardiorespiratory arrest Posterior subcapsular cataract Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Hashimoto thyroiditis Atopic dermatitis Distal arthrogryposis Dysesthesia Muscle fiber atrophy Scoliosis Edema of the dorsum of hands Generalized hypotonia Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Bilateral intracranial calcifications Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Abnormal mitochondrial morphology Writer's cramp Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth EEG with persistent abnormal rhythmic activity


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