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:
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
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
Too many results?
We can help you with your rare disease diagnosis.
Learn more
Other less relevant matches:
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
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
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
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
|
Accelerate your rare disease diagnosis with us
Learn more
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
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Delayed speech and language development and High myopia, related diseases and genetic alterations
Macrocephaly and Lymphadenopathy, related diseases and genetic alterations
Skeletal muscle atrophy and Acute myeloid leukemia, related diseases and genetic alterations
Cognitive impairment and Dental crowding, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
Learn more