Cleft palate, and Arrhythmia

Diseases related with Cleft palate and Arrhythmia

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


Top matches:

Low 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 EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY


EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY

Low match HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1


HeterotaxyHeterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder. Multiple Types of Congenital Heart DefectsCongenital heart defects (CHTD) are among the most common congenital defects, occurring with an incidence of 8/1,000 live births. The etiology of CHTD is complex, with contributions from environmental exposure, chromosomal abnormalities, and gene defects. Some patients with CHTD also have cardiac arrhythmias, which may be due to the anatomic defect itself or to surgical interventions (summary by van de Meerakker et al., 2011). ReviewsObler et al. (2008) reviewed published cases of double-outlet right ventricle and discussed etiology and associations. Genetic Heterogeneity of Visceral HeterotaxySee also HTX2 (OMIM ), caused by mutation in the CFC1 gene (OMIM ) on chromosome 2q21; HTX3 (OMIM ), which maps to chromosome 6q21; HTX4 (OMIM ), caused by mutation in the ACVR2B gene (OMIM ) on chromosome 3p22; HTX5 (OMIM ), caused by mutation in the NODAL gene (OMIM ) on chromosome 10q22; HTX6 (OMIM ), caused by mutation in the CCDC11 gene (OMIM ) on chromosome 18q21; HTX7 (OMIM ), caused by mutation in the MMP21 gene (OMIM ) on chromosome 10q26; and HTX8 (OMIM ), caused by mutation in the PKD1L1 gene (OMIM ) on chromosome 7p12. Genetic Heterogeneity of Multiple Types of Congenital Heart DefectsAn X-linked form of CHTD, CHTD1, is caused by mutation in the ZIC3 gene on chromosome Xq26. CHTD2 (OMIM ) is caused by mutation in the TAB2 gene (OMIM ) on chromosome 6q25. A form of nonsyndromic congenital heart defects associated with cardiac rhythm and conduction disturbances (CHTD3 ) has been mapped to chromosome 9q31. CHTD4 (OMIM ) is caused by mutation in the NR2F2 gene (OMIM ) on chromosome 15q26. CHTD5 (OMIM ) is caused by mutation in the GATA5 gene (OMIM ) on chromosome 20q13. CHTD6 (OMIM ) is caused by mutation in the GDF1 gene (OMIM ) on chromosome 19p13.

HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1 Is also known as situs inversus, complex cardiac defects, and splenic defects, x-linked|laterality, x-linked|dextrocardia with other cardiac malformations

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cleft palate
  • Ventricular septal defect
  • Atrial septal defect


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HETEROTAXY, VISCERAL, 1, X-LINKED; HTX1

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Other less relevant matches:

Low match OROFACIAL CLEFT 5; OFC5


OROFACIAL CLEFT 5; OFC5 Is also known as cleft lip with or without cleft palate, nonsyndromic, 5

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MESH MENDELIAN

More info about OROFACIAL CLEFT 5; OFC5

Low match OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6


OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6 Is also known as cleft lip with or without cleft palate, nonsyndromic, 6

Related symptoms:

  • Cleft palate
  • Cleft upper lip


SOURCES: OMIM MENDELIAN

More info about OROFACIAL CLEFT 6, SUSCEPTIBILITY TO; OFC6

Low match PGM1-CDG


Congenital disorder of glycosylation type It (CDG1T) is an autosomal recessive disorder characterized by a wide range of clinical manifestations and severity. The most common features include cleft lip and bifid uvula, apparent at birth, followed by hepatopathy, intermittent hypoglycemia, short stature, and exercise intolerance, often accompanied by increased serum creatine kinase. Less common features include rhabdomyolysis, dilated cardiomyopathy, and hypogonadotropic hypogonadism (summary by Tegtmeyer et al., 2014).For a discussion of the classification of CDGs, see CDG1A (OMIM ).

PGM1-CDG Is also known as glycogen storage disease xiv|gsd14|gsd xiv|congenital disorder of glycosylation type it|cdg syndrome type it|cdg-it|cdg it|cdg1t|cdgit|phosphoglucomutase-1 deficiency|pgm1 deficiency|phosphoglucomutase 1 deficiency|congenital disorder of glycosylation typ

Related symptoms:

  • Short stature
  • Growth delay
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about PGM1-CDG

Low match LYMPHEDEMA, HEREDITARY, IA; LMPH1A


Hereditary primary lymphedema is caused by anatomic or functional defects in the lymphatic system, resulting in chronic swelling of body parts. There may be accompanying nail and skin changes, such as nail dysplasia or papillomatosis. Onset is usually at birth or in early childhood but can occur later, and the severity is variable (summary by Gordon et al., 2013 and Balboa-Beltran et al., 2014). Genetic Heterogeneity of Hereditary Primary LymphedemaPrimary lymphedema is genetically heterogeneous: see also LMPH1B (OMIM ), which maps to chromosome 6q16.2-q22.1; LMPH1C (OMIM ), caused by mutation in the GJC2 gene (OMIM ) on chromosome 1q42; and LMPH1D (OMIM ), caused by mutation in the VEGFC gene (OMIM ) on chromosome 4q34. Hereditary lymphedema III (LMPH3 ) is caused by mutaiton in the PIEZO1 gene (OMIM ) on chromosome 16q24.Also see hereditary lymphedema type II (OMIM ), also known as Meige lymphedema.Lymphedema can also be a feature of syndromic disorders such as lymphedema-distichiasis syndrome (OMIM ), which is caused by mutation in the FOXC2 gene (OMIM ).

LYMPHEDEMA, HEREDITARY, IA; LMPH1A Is also known as primary congenital lymphedema|pcl|nonne-milroy lymphedema|lymphedema, early-onset|milroy disease

Related symptoms:

  • Scoliosis
  • Strabismus
  • Cleft palate
  • Ptosis
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about LYMPHEDEMA, HEREDITARY, IA; LMPH1A

Low match ANEURYSM-OSTEOARTHRITIS SYNDROME


ANEURYSM-OSTEOARTHRITIS SYNDROME Is also known as loeys-dietz syndrome with osteoarthritis|loeys-dietz syndrome, type 1c, formerly|lds1c, formerly|aneurysms-osteoarthritis syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Cleft palate
  • Pain
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about ANEURYSM-OSTEOARTHRITIS SYNDROME

Low match BLACKFAN-DIAMOND ANEMIA


Blackfan-Diamond anemia (DBA) is a congenital aregenerative and often macrocytic anemia with erythroblastopenia.

BLACKFAN-DIAMOND ANEMIA Is also known as congenital hypoplastic anemia, blackfan-diamond type|congenital pure red cell aplasia|aase-smith syndrome ii|congenital prca|aase-smith ii syndrome|aase syndrome

Related symptoms:

  • Short stature
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about BLACKFAN-DIAMOND ANEMIA

Low match SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC


Patients with SSFSC have short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies. Distinctive facial features include midface retrusion, short upturned nose, long philtrum, high-arched or cleft palate, and variable degrees of micrognathia and dental crowding. Skeletal anomalies include patterning defects of the axial skeleton, characterized by 11 pairs of ribs and brachydactyly of the fifth ray. Congenital heart defects are variably observed and appear to involve primarily the cardiac outflow tract (Tan et al., 2017).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES; SSFSC

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

Symptoms // Phenotype % cases
Ventricular septal defect Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Pulmonic stenosis Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Micrognathia Patent ductus arteriosus Muscle weakness Cleft upper lip Tachycardia

Rare Symptoms - Less than 30% cases


Ventricular hypertrophy Cleft soft palate Delayed puberty Mitral regurgitation Spondylolisthesis Cleft lip Mitral valve prolapse Migraine Transposition of the great arteries Pierre-Robin sequence Bifid uvula Brachydactyly Dilated cardiomyopathy Clinodactyly Failure to thrive Osteoporosis High palate Low-set ears Abnormality of the skeletal system Generalized hypotonia Growth delay Atrial fibrillation Ptosis Short nose Elevated serum creatine phosphokinase Abnormal facial shape Cardiomyopathy Abnormal heart morphology Tetralogy of Fallot Fatigue Soft skin Dilatation of the cerebral artery Subarachnoid hemorrhage Hip osteoarthritis Aortic dissection Low back pain Osteochondritis Dissecans Thoracic aortic aneurysm Arterial tortuosity Dural ectasia Abdominal aortic aneurysm Protrusio acetabuli Striae distensae Pain Abnormal joint morphology Camptodactyly Hyperkeratosis over edematous areas Headache Dilatation Hypoplasia of lymphatic vessels Hernia Predominantly lower limb lymphedema Inguinal hernia Umbilical hernia Pes planus Joint laxity Arachnodactyly Slender finger Bruising susceptibility Dental malocclusion Intervertebral disc degeneration Osteoarthritis Left ventricular hypertrophy Aortic regurgitation Back pain Aortic aneurysm Disproportionate tall stature Chylous ascites Abnormality of the sternum Bicuspid aortic valve Depressed nasal ridge Uterine prolapse Dental crowding Clinodactyly of the 5th finger Posteriorly rotated ears Osteopenia Thin upper lip vermilion Conductive hearing impairment Low-set, posteriorly rotated ears Apnea Broad forehead Synophrys Everted lower lip vermilion Narrow forehead Palpitations Short toe Pectus excavatum Spina bifida occulta Sandal gap Infantile muscular hypotonia Sleep apnea Proportionate short stature Obstructive sleep apnea Supraventricular tachycardia 11 pairs of ribs Wolff-Parkinson-White syndrome Short 5th metacarpal Perimembranous ventricular septal defect Anterior open bite Prominent sternum Delayed skeletal maturation Midface retrusion Knee osteoarthritis Melanoma Neoplasm Anemia Intrauterine growth retardation Autism Retrognathia Pallor Autistic behavior Neutropenia Thick lower lip vermilion Distichiasis Abnormality of the genital system Short thumb Abnormality of the urinary system Long philtrum Abnormality of the hand Triphalangeal thumb Macrocytic anemia Tracheomalacia Acute leukemia Esophagitis Increased mean corpuscular volume Reticulocytopenia Fetal distress Persistence of hemoglobin F Hearing impairment Downslanted palpebral fissures Anteverted nares Abnormality of the amniotic fluid Paresthesia Hypoproteinemia Renal agenesis Left ventricular noncompaction Abnormal levels of creatine kinase in blood Increased endomysial connective tissue Minicore myopathy Mitochondrial depletion Cerebellar hypoplasia Recurrent respiratory infections Respiratory tract infection Anal atresia Dyskinesia Intestinal malrotation Oligohydramnios Difficulty running Cardiomegaly Situs inversus totalis Holoprosencephaly Dextrocardia Ciliary dyskinesia Abnormal lung lobation Double outlet right ventricle Myelomeningocele Polysplenia Asplenia Duodenal atresia Ankle contracture Centrally nucleated skeletal muscle fibers Abdominal situs inversus Neonatal hypotonia Syndactyly Stroke Syncope Ventricular tachycardia Ventricular extrasystoles Paroxysmal atrial fibrillation Thromboembolic stroke Flexion contracture Motor delay Myopathy Congestive heart failure Facial palsy Difficulty climbing stairs Abnormal cardiac septum morphology Hip dislocation Muscular dystrophy Arthrogryposis multiplex congenita Generalized muscle weakness Webbed neck Knee flexion contracture Radioulnar synostosis Congenital muscular dystrophy Calf muscle hypertrophy Myopathic facies Pulmonary artery atresia Heterotaxy Nonimmune hydrops fetalis Pulmonary hypoplasia Decreased serum insulin-like growth factor 1 Reduced antithrombin III activity Increased intramyocellular lipid droplets Exercise-induced muscle fatigue Increased muscle glycogen content Cerebral venous thrombosis Type II transferrin isoform profile Abnormal protein glycosylation Strabismus Edema Photophobia Ascites Type I transferrin isoform profile Nail dysplasia Lymphedema Hydrops fetalis Abnormality of the nail Conjunctivitis Hemangioma Pleural effusion Cellulitis Edema of the lower limbs Hydrocele testis Varicose veins Chronic hepatitis Small face Biliary atresia Dyspnea Common atrium Single ventricle Pulmonary artery hypoplasia Mitral atresia Dextrotransposition of the great arteries Posteriorly placed anus Fever Intellectual disability, mild Prominent forehead Hypogonadism Hypothyroidism Hypoglycemia Hyperinsulinemic hypoglycemia Elevated hepatic transaminase Abnormality of the liver Hepatic steatosis Muscle cramps Chest pain Hepatitis Cardiac arrest Hypogonadotrophic hypogonadism Exercise intolerance Abnormality of the coagulation cascade Rhabdomyolysis Malignant hyperthermia Paroxysmal supraventricular tachycardia



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