Hypertelorism, and Stroke

Diseases related with Hypertelorism and Stroke

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

Top matches:

Familial thoracic aortic aneurysm and aortic dissection is a rare genetic vascular disease characterized by the familial occurrence of thoracic aortic aneurysm, dissection or dilatation affecting one or more aortic segments (aortic root, ascending aorta, arch or descending aorta) in the absence of any other associated disease. Depending on the size, location and progression rate of dilatation/dissection, patients may be asymptomatic or may present dyspnea, cough, jaw, neck, chest or back pain, head, neck or upper limb edema, difficulty swallowing, voice hoarseness, pale skin, faint pulse and/or numbness/tingling in limbs. Patients have increased risk of presenting life threatening aortic rupture.

FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION Is also known as familial taad

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Hypertension
  • Dilatation
  • Patent ductus arteriosus


SOURCES: ORPHANET MENDELIAN

More info about FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION

Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Periventricular nodular heterotopia (PNH) is a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface. Classical PNH is a rare X-linked dominant disorder far more frequent in females who present normal intelligence to borderline intellectual deficit, epilepsy of variable severity and extra-central nervous system signs, especially cardiovascular defects or coagulopathy. The disorder is generally associated with prenatal lethality in males.

PERIVENTRICULAR NODULAR HETEROTOPIA Is also known as heterotopia, periventricular, ehlers-danlos variant|periventricular nodular heterotopia 4, formerly|heterotopia, familial nodular|heterotopia, periventricular, x-linked dominant|pvnh4, formerly|nhbp|nodular heterotopia, bilateral periventricular|bpnh

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PERIVENTRICULAR NODULAR HETEROTOPIA

Other less relevant matches:

High match CEDNIK SYNDROME

CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.

CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CEDNIK SYNDROME

Saguenay-Lac-St. Jean (SLSJ) type congenital lactic acidosis, a French Canadian form of Leigh syndrome (see this term), is a mitochondrial disease characterized by chronic metabolic acidosis, hypotonia, facial dysmorphism and delayed development.

CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE Is also known as cytochrome oxidase deficiency, saguenay-lac-saint-jean type|cytochrome c oxidase deficiency, french canadian type|cytochrome c oxidase deficiency, french-canadian type|cox deficiency, french canadian type|leigh syndrome, french-canadian type|slsj-cox defi

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL LACTIC ACIDOSIS, SAGUENAY-LAC-SAINT-JEAN TYPE

ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Cutis marmorata telangiectatica congenita (CMTC) is a congenital localized or generalized vascular anomaly characterized by a persistent cutis marmorata pattern with a marbled bluish to deep purple appearance, spider nevus-like telangiectasia, phlebectasia and, occasionally, ulceration and atrophy of the affected skin.

CUTIS MARMORATA TELANGIECTATICA CONGENITA Is also known as megalencephaly-cutis marmorata telangiectatica congenita|cmtc|mcmtc|megalencephaly-capillary malformation syndrome|macrocephaly-cutis marmorata telangiectatica congenita|mcm|macrocephaly-capillary malformation

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CUTIS MARMORATA TELANGIECTATICA CONGENITA

ARTERIAL TORTUOSITY SYNDROME; ATS Is also known as arterial tortuosity

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME; ATS

Top 5 symptoms//phenotypes associated to Hypertelorism and Stroke

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hypertelorism and Stroke. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Downslanted palpebral fissures Abnormal facial shape Wide nasal bridge Dilatation Ptosis Generalized hypotonia Hypertension Patent ductus arteriosus Muscular hypotonia Cortical dysplasia Retrognathia Low-set ears Acidosis Long philtrum Shock Polymicrogyria Short stature Microcephaly Joint hypermobility Epicanthus Micrognathia Aortic regurgitation Strabismus Ischemic stroke

Rare Symptoms - Less than 30% cases

Nephrotic syndrome Syndactyly Perisylvian polymicrogyria Short chin Pachygyria Cerebellar hypoplasia Lissencephaly Long face Proteinuria Macrotia Agenesis of corpus callosum Depressed nasal bridge Skeletal dysplasia Respiratory distress Ataxia Abnormality of the coagulation cascade Pectus carinatum Malar flattening High palate Joint laxity Webbed neck Growth delay Arrhythmia Pulmonary artery stenosis Long nose Heart murmur Pointed chin Increased body weight Macrocephaly Hernia Pulmonic stenosis Broad forehead Scarring Pectus excavatum Abnormal heart morphology Renal insufficiency Ventricular septal defect Cognitive impairment Hyperglycemia Tachypnea Telangiectasia Cutis laxa Intellectual disability, mild Highly arched eyebrow Lactic acidosis Midface retrusion Hypotension Metabolic acidosis Flexion contracture Intellectual disability, severe Bruising susceptibility Cutis marmorata Wide nose Abnormality of the sternum Aortic root aneurysm Aortic aneurysm Congestive heart failure Bicuspid aortic valve Cardiomyopathy Hypogonadism Transient ischemic attack Stroke-like episode Deeply set eye Cryptorchidism Congenital ptosis Inguinal hernia Arachnodactyly Thick vermilion border Cranial nerve VI palsy Intrauterine growth retardation Decreased female libido Neoplasm Mixed respiratory and metabolic acidosis Smooth philtrum Retinal detachment Ventriculomegaly Ascites Sinus tachycardia Nevus Fourth cranial nerve palsy Soft, doughy skin Long upper lip Frontal bossing Edema Hydrocephalus Adrenocorticotropin deficient adrenal insufficiency Sudden loss of visual acuity Female hypogonadism Decreased circulating ACTH level Finger syndactyly Leukemia Postnatal growth retardation Dyspareunia Abnormality of the nervous system Toe syndactyly Oral cleft Postaxial polydactyly Bitemporal hemianopia Hypothyroidism Polydactyly Decreased fertility in males Abnormality of cardiovascular system morphology Microphthalmia High forehead Breech presentation Diaphragmatic eventration Proximal muscle weakness Abnormal bleeding Muscle cramps Tachycardia Limb muscle weakness Arthrogryposis multiplex congenita Muscular dystrophy Hyperlordosis Myalgia Rigidity Internal ophthalmoplegia Kyphoscoliosis Hyperhidrosis Pes cavus Elevated serum creatine phosphokinase Abnormality of hair density Kyphosis Hypertonia Myopathy Fever Telangiectases of the cheeks Decreased fetal movement Respiratory arrest Curved fingers Severe lactic acidosis Abnormality of the skin Hyperphosphatemia Low hanging columella Thoracic kyphosis Malignant hyperthermia Generalized arterial tortuosity Myoglobinuria Scaphocephaly Lumbar hyperlordosis Acute kidney injury Rhabdomyolysis Hyperkalemia Myopathic facies Ventricular fibrillation Myotonia Deep philtrum Ventricular arrhythmia Lymphedema Vesicoureteral reflux Secondary growth hormone deficiency Overgrowth Vascular ring Blindness Fatigue Epiphora Impotence Blue nevus Blurred vision Atrophic scars Cutis marmorata telangiectatica congenita Keratoconus Headache Displacement of the external urethral meatus Progressive macrocephaly Leukocoria Tracheomalacia Growth hormone excess Hemimegalencephaly Facial hemangioma Capillary malformation Short lower limbs Vomiting Osteoporosis Asymmetric growth Amenorrhea Gynecomastia Diplopia Aortic valve stenosis Recurrent pneumonia Thin skin Hypogonadotrophic hypogonadism Ventricular hypertrophy Easy fatigability Congenital diaphragmatic hernia Progressive visual loss Respiratory failure Convex nasal ridge Vertigo Delayed puberty Hyperextensible skin Blepharophimosis Pallor Umbilical hernia Hyperinsulinemia Osteopenia Subcutaneous hemorrhage Soft skin Arterial tortuosity Redundant skin Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Bladder diverticulum Abnormality of digit Large for gestational age Abnormal thrombosis Rectal prolapse Nephroblastoma Reduced bone mineral density Adrenocorticotropic hormone deficiency Arnold-Chiari malformation Hemangioma Oculomotor nerve palsy Cutaneous syndactyly Purpura Multicystic kidney dysplasia Galactorrhea Decreased fertility in females Postaxial hand polydactyly Telangiectasia of the skin Syringomyelia Right aortic arch Large earlobe Skin erosion Arterial stenosis Cavum septum pellucidum Muscle weakness Atrial flutter Abnormality of the upper limb Hemihypertrophy Arteriovenous malformation Abnormality of the lower limb Varicose veins Nevus flammeus Meningioma Megalencephaly Capillary hemangioma Severe failure to thrive Hiatus hernia Severe postnatal growth retardation Male hypogonadism Pituitary hypothyroidism Arnold-Chiari type I malformation Dilation of lateral ventricles Dark urine Euryblepharon Dyslexia Abnormality of the dentition Hypoplasia of the corpus callosum Optic atrophy Peripheral neuropathy Sensorineural hearing impairment Hearing impairment Subependymal nodules Congenital nephrotic syndrome Widow's peak Abnormality of the eye Enlarged cisterna magna Shawl scrotum Emphysema Abnormality of neuronal migration Patent foramen ovale Heterotopia Mitral regurgitation Myocardial infarction Generalized-onset seizure Areflexia Prominent nasal bridge Intestinal malrotation Palmoplantar hyperkeratosis Dystonia Anteverted nares Dysphagia Tremor Delayed speech and language development Optic disc hypoplasia Diffuse palmoplantar keratoderma Abnormal corpus callosum morphology Abnormality of peripheral nerve conduction Abnormality of vision Severe global developmental delay Poor head control Intellectual disability, progressive Progressive microcephaly Depressed nasal ridge Palmoplantar keratoderma Polyneuropathy Ichthyosis Abnormality of eye movement Dolichocephaly Focal-onset seizure Confusion Hypospadias Aortic dissection Prenatal maternal abnormality Ascending aortic dissection Abdominal aortic aneurysm Dural ectasia Hypovolemia Thoracic aortic aneurysm Pneumothorax Left ventricular failure Peripheral arterial stenosis Subarachnoid hemorrhage Carotid artery dilatation Dilatation of the cerebral artery Hemoptysis Exertional dyspnea Coronary artery atherosclerosis Tall stature Cardiomegaly Chest pain High, narrow palate Pes planus Abnormality of connective tissue Descending thoracic aorta aneurysm Micropenis Azoospermia Encephalopathy Recurrent infections Moyamoya phenomenon Abnormal hand morphology Abnormality of the nares Broad finger Abnormal left ventricle morphology Premature graying of hair Cerebral hemorrhage Hypergonadotropic hypogonadism Abnormality iris morphology Short phalanx of finger Decreased testicular size Growth hormone deficiency Small hand Dilated cardiomyopathy Cataract Cystic medial necrosis of the aorta Paroxysmal dyspnea Descending aortic dissection Absent speech Prominent forehead Osteochondrosis Coarse facial features Full cheeks Microcornea Iris coloboma Thin vermilion border Wide mouth Joint stiffness Telecanthus Hydronephrosis Cerebral cortical atrophy Specific learning disability Short neck Feeding difficulties Axenfeld anomaly Butterfly vertebrae Peripheral pulmonary artery stenosis Cholestatic liver disease Wolff-Parkinson-White syndrome Poor coordination Exocrine pancreatic insufficiency Prominent nose Low posterior hairline Renal tubular acidosis Depressed nasal tip Cerebral cortical hemiatrophy Retinoschisis Duplication of thumb phalanx Macrogyria Subcortical cerebral atrophy Abnormality of the upper urinary tract Optic nerve coloboma Echolalia Heterochromia iridis Short columella Large fontanelles Palpebral edema Prominent metopic ridge Long palpebral fissure Dysphasia Aphasia Delayed cranial suture closure Hydroureter Trigonocephaly Mutism Posterior embryotoxon Rickets Hypoglycemia Decreased liver function Microvesicular hepatic steatosis CNS demyelination Breathing dysregulation Increased CSF lactate Anteriorly placed anus Poor suck Leukoencephalopathy Truncal ataxia Low anterior hairline Broad-based gait Increased hepatocellular lipid droplets Intention tremor Peripheral demyelination Increased serum lactate Gliosis Coma Hepatic steatosis Hirsutism Developmental regression Hypertrophic cardiomyopathy Congenital lactic acidosis Hepatomegaly Renal dysplasia Hepatic failure Cholestasis Renal hypoplasia Coarctation of aorta Tetralogy of Fallot Pigmentary retinopathy Cyanosis Triangular face Renal cyst Hematuria Cirrhosis Abnormality of the skeletal system Malabsorption Pruritus Retinopathy Abnormal cardiac septum morphology Abnormality of the liver Jaundice Mandibular prognathia Splenomegaly Atrial septal defect Aortic tortuosity


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