Cleft palate, and Stroke

Diseases related with Cleft palate and Stroke

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


Top matches:

Medium match ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9


Atrial fibrillation is the most common sustained cardiac rhythm disturbance, affecting more than 2 million Americans, with an overall prevalence of 0.89%. The prevalence increases rapidly with age, to 2.3% between the ages of 40 and 60 years, and to 5.9% over the age of 65. The most dreaded complication is thromboembolic stroke (Brugada et al., 1997).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Cleft palate
  • Low-set ears
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 9; ATFB9

Low match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Low match TRICHORHINOPHALANGEAL SYNDROME TYPE 2


Langer-Giedon syndrome, also known as trichorhinophalangeal syndrome type 2, is a very rare, genetic, multiple congenital anomaly disorder characterized by bone abnormalities, distinctive facial features, multiple exostoses, and intellectual disability.

TRICHORHINOPHALANGEAL SYNDROME TYPE 2 Is also known as langer-giedion syndrome|deletion 8q24.1|chromosome 8q24.1 deletion syndrome|lgs|monosomy 8q24.1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME TYPE 2

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Other less relevant matches:

Low match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

Low match AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9


AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9 Is also known as aortic aneurysm, thoracic, with or without aortic dissection

Related symptoms:

  • High palate
  • Hypertension
  • Dilatation
  • Pectus excavatum
  • Stroke


SOURCES: OMIM MENDELIAN

More info about AORTIC ANEURYSM, FAMILIAL THORACIC 9; AAT9

Low match CUTIS MARMORATA TELANGIECTATICA CONGENITA


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

Low match AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE


PKD1, an autosomal dominant form of polycystic kidney disease (ADPKD), has the cardinal manifestations of renal cysts, liver cysts, and intracranial aneurysm. Acute and chronic pain and nephrolithiasis are common complications. The most serious renal complication is end-stage renal disease, which occurs in approximately 50% of patients by the age of 60 years. The typical age of onset is in middle life, but the range is from infancy to 80 years (summary by Wu and Somlo, 2000). Genetic Heterogeneity of Polycystic Kidney DiseaseAlso see polycystic kidney disease-2 (PKD2 ), caused by mutation in the PKD2 gene (OMIM ) on chromosome 4q22; PKD3 (OMIM ), caused by mutation in the GANAB gene (OMIM ) on chromosome 11q13; PKD4 (OMIM ), caused by mutation in the PKHD1 gene (OMIM ) on chromosome 6p12; PKD5 (OMIM ), caused by mutation in the DZIP1L gene (OMIM ) on chromosome 3q22; and PKD6 (OMIM ), caused by mutation in the DNAJB11 gene (OMIM ) on chromosome 3q27.

AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE Is also known as apkd1|adpkd|polycystic kidney disease, adult|polycystic kidney disease, adult, type i|potter type iii polycystic kidney disease, formerly

Related symptoms:

  • Scoliosis
  • Pain
  • Hypertension
  • Talipes equinovarus
  • Renal insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE

Low match FAMILIAL THORACIC AORTIC ANEURYSM AND AORTIC DISSECTION


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

Low match MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA


Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.

MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA Is also known as msa|mlasa|myopathy, lactic acidosis and sideroblastic anemia|mitochondrial myopathy and sideroblastic anemia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY AND SIDEROBLASTIC ANEMIA

Top 5 symptoms//phenotypes associated to Cleft palate and Stroke

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Ischemic stroke Uncommon - Between 30% and 50% cases
Vesicoureteral reflux Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Syndactyly Hypertension Microcephaly Anemia Micrognathia Hypertelorism Subarachnoid hemorrhage Multicystic kidney dysplasia Patent ductus arteriosus Redundant skin Joint laxity Polydactyly Long philtrum Muscular hypotonia Generalized hypotonia High palate Muscle weakness Dilatation Arachnodactyly Hearing impairment Aortic aneurysm Growth delay

Rare Symptoms - Less than 30% cases


Cirrhosis Nevus Joint hypermobility Delayed puberty Finger syndactyly Deeply set eye Mitral valve prolapse Transient ischemic attack Abnormality of cardiovascular system morphology Ventriculomegaly Talipes equinovarus Wide nasal bridge Cognitive impairment Aortic dissection Abnormal facial shape Thoracic aortic aneurysm Recurrent urinary tract infections Abdominal aortic aneurysm Deep philtrum Depressed nasal bridge Myoclonus Overgrowth Encephalopathy Short nose Pes planus High, narrow palate Macrocephaly Cutis marmorata Edema Tall stature Aortic regurgitation Global developmental delay Cerebral hemorrhage Telangiectasia Dilatation of the cerebral artery Large for gestational age Retrognathia Short stature Failure to thrive Acidosis Abnormality of the kidney Polycystic kidney dysplasia Chronic kidney disease Paroxysmal atrial fibrillation Ptosis Severe postnatal growth retardation Renal insufficiency Ectodermal dysplasia Vaginal atresia Hematuria Pain Low-set ears Atrial fibrillation Brachydactyly Abnormal heart morphology Short lower limbs Varicose veins Meningioma Megalencephaly Capillary hemangioma Severe failure to thrive Nevus flammeus Arnold-Chiari type I malformation Abnormality of the lower limb Microcytic anemia Syringomyelia Telangiectasia of the skin Multiple cafe-au-lait spots Aplasia/Hypoplasia of the skin Large earlobe Arteriovenous malformation Increased serum ferritin Leukocoria Perisylvian polymicrogyria Capillary malformation Facial hemangioma Asymmetric growth Hemimegalencephaly Right aortic arch Skin erosion Subcutaneous hemorrhage Progressive macrocephaly Cavum septum pellucidum Dilation of lateral ventricles Atrial flutter Abnormality of the upper limb Hemihypertrophy Arterial stenosis Reduced bone mineral density Abnormality of digit Microphthalmia Broad forehead Postnatal growth retardation Abnormality of the nervous system High forehead Hypothyroidism Arrhythmia Hernia Sideroblastic anemia Toe syndactyly Hypochromic anemia Hydrocephalus Cytochrome C oxidase-negative muscle fibers Erythroid hyperplasia Ventricular septal defect Frontal bossing Generalized limb muscle atrophy Downslanted palpebral fissures Leukemia Smooth philtrum Cortical dysplasia Stroke-like episode Nephroblastoma Displacement of the external urethral meatus Arnold-Chiari malformation Hemangioma Mitochondrial myopathy Cutis laxa Cutaneous syndactyly Shock Purpura Oral cleft Distichiasis Postaxial hand polydactyly Abnormality of the skin Ascites Retinal detachment Thick vermilion border Postaxial polydactyly Polymicrogyria Ragged-red muscle fibers Conjunctival telangiectasia Vascular ring Prenatal maternal abnormality Descending aortic dissection Abnormality iris morphology Descending thoracic aorta aneurysm Nasal mucosa telangiectasia Tongue telangiectasia Carotid artery dilatation Abnormality of connective tissue Palate telangiectasia Hepatic arteriovenous malformation Ascending aortic dissection Dural ectasia Nail bed telangiectasia Hypovolemia Pneumothorax Left ventricular failure Gastrointestinal telangiectasia Peripheral arterial stenosis Paroxysmal dyspnea Cystic medial necrosis of the aorta Aortic root aneurysm Epistaxis Polycythemia Clubbing Melena Hematemesis Spontaneous, recurrent epistaxis Cerebral arteriovenous malformation Lip telangiectasia Gastrointestinal angiodysplasia Choriocapillaris atrophy Dyspnea Pulmonary arterial hypertension Right-to-left shunt Brain abscess Cyanosis Spinal arteriovenous malformation Gastrointestinal hemorrhage Pulmonary arteriovenous malformation Migraine Hemoptysis Abnormality of the sternum Cutis marmorata telangiectatica congenita Nephrolithiasis Portal hypertension Cholelithiasis Glaucoma Pallor Lactic acidosis Increased serum lactate Hepatic fibrosis Mitral regurgitation Abnormality of metabolism/homeostasis Progressive muscle weakness Renal cyst EMG abnormality Stage 5 chronic kidney disease Exercise intolerance Headache Hematochezia Blue nevus Tricuspid regurgitation Disproportionate tall stature Exertional dyspnea Cerebral berry aneurysm Coronary artery atherosclerosis Bicuspid aortic valve Gastrointestinal arteriovenous malformation Fingerpad telangiectases Cardiomegaly Chest pain Bruising susceptibility Intrauterine growth retardation Colonic diverticula Kyphosis Tricuspid valve prolapse Chronic pain Hepatic cysts Pancreatic cysts Congenital hepatic fibrosis Cholangitis Enlarged kidney Myopathy Inguinal hernia Elevated alkaline phosphatase Epicanthus Joint stiffness Growth hormone deficiency Thick eyebrow Bulbous nose Talipes Joint hyperflexibility Genu valgum Sparse hair Protruding ear Sparse scalp hair Low-set, posteriorly rotated ears Conductive hearing impairment Thin upper lip vermilion Macrotia Delayed skeletal maturation Abnormality of the dentition Abnormality of the skeletal system Delayed speech and language development Hip dysplasia Exotropia Parathyroid hypoplasia Exostoses Prune belly Multiple exostoses Thick nasal alae Avascular necrosis of the capital femoral epiphysis Oligospermia Fragile nails Spinal cord compression Cone-shaped epiphyses of the phalanges of the hand Increased number of teeth Bone pain Cone-shaped epiphysis Preaxial polydactyly Recurrent upper respiratory tract infections Abnormal palate morphology Scapular winging Joint dislocation Bilateral single transverse palmar creases Gynecomastia Unilateral renal dysplasia Abnormality of T cell physiology Absent toe Rod-cone dystrophy Horizontal nystagmus Renal dysplasia Nephrotic syndrome Bilateral sensorineural hearing impairment Proteinuria Hydronephrosis Myalgia Diabetes mellitus Cardiomyopathy Nephrocalcinosis Sensorineural hearing impairment Nystagmus Thromboembolic stroke Ventricular extrasystoles Ventricular tachycardia Syncope Tachycardia Clinodactyly Hypocalcemia Hyperkinesis Unilateral deafness Aplasia of the uterus Bilateral renal dysplasia Thickening of the glomerular basement membrane Septate vagina Pseudopapilledema Proximal renal tubular acidosis Distal renal tubular acidosis Uterus didelphys Hypocalcemic seizures Ovarian cyst Abnormality of the urinary system Tetany Hypoparathyroidism Renal tubular acidosis Basal ganglia calcification Progressive sensorineural hearing impairment Unilateral renal agenesis Psoriasiform dermatitis Polycystic ovaries Hydrometrocolpos Aplasia/Hypoplasia of the mandible Neoplasm Inflammatory abnormality of the skin Prominent occiput Overfolded helix Scaling skin Widely spaced teeth Cerebral visual impairment Gingival overgrowth Postnatal microcephaly Large fontanelles Small nail Absent septum pellucidum Hypsarrhythmia Generalized-onset seizure Limb undergrowth Microdontia Neuronal loss in central nervous system Epileptic encephalopathy Webbed neck Delayed myelination Infantile spasms Central hypotonia Sepsis Triangular mouth Left ventricular hypertrophy Ventricular hypertrophy Pectus carinatum Pectus excavatum Abnormality of the pons Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Micronodular cirrhosis Epileptic spasms Duplicated collecting system Hemoglobinuria Seborrheic dermatitis Breech presentation Developmental stagnation High anterior hairline Cardiorespiratory arrest Pierre-Robin sequence Gliosis Generalized myoclonic seizures Mild postnatal growth retardation Anteverted nares Obesity Absent speech Cerebral atrophy Malar flattening Cerebellar atrophy Atrial septal defect Hypoplasia of the corpus callosum Short neck Hyperreflexia Cerebellar hypoplasia Hepatomegaly Flexion contracture Spasticity Redundant skin in infancy Multiple long-bone exostoses Scapular exostoses Rib exostoses Persistent cloaca Pneumonia Posteriorly rotated ears Hemolytic anemia Apnea Downturned corners of mouth Wide nose Short distal phalanx of finger Hepatic failure Ichthyosis Abnormality of eye movement Wide mouth Developmental regression Abnormality of the eye Upslanted palpebral fissure Muscular hypotonia of the trunk Neonatal hypotonia Coarse facial features Polyhydramnios Narrow mouth Micropenis Respiratory failure Cerebral cortical atrophy Chronic lactic acidosis



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