Cleft palate, and Atrial fibrillation

Diseases related with Cleft palate and Atrial fibrillation

In the following list you will find some of the most common rare diseases related to Cleft palate and Atrial fibrillation 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

Medium 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

Medium match BOR SYNDROME


Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

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Other less relevant matches:

Low match HOLT-ORAM SYNDROME; HOS


Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

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 FAMILIAL MITRAL VALVE PROLAPSE


Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Low match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Low match MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD


Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Low match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Low match ATRIAL FIBRILLATION, FAMILIAL, 15; ATFB15


Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by Oberti et al., 2004).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Cardiomyopathy
  • Abnormal heart morphology
  • Tachycardia
  • Atrial fibrillation
  • Supraventricular tachycardia


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 15; ATFB15

Top 5 symptoms//phenotypes associated to Cleft palate and Atrial fibrillation

Symptoms // Phenotype % cases
High palate Common - Between 50% and 80% cases
Mitral valve prolapse Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Pectus excavatum Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Joint laxity Atrial septal defect Scoliosis Short stature Tachycardia Long face Aortic aneurysm Feeding difficulties Ptosis Facial palsy Generalized hypotonia Hypertrophic cardiomyopathy Abnormal heart morphology Growth delay Respiratory insufficiency Hypertension Micrognathia Failure to thrive Dysphagia Pulmonic stenosis Aortic regurgitation Myopathy Muscle weakness Abnormality of the skeletal system

Rare Symptoms - Less than 30% cases


Pes cavus Frontal bossing Atrioventricular block Bradycardia Abnormality of the cardiovascular system Respiratory failure Postprandial hyperglycemia Abnormality of cardiovascular system morphology Ventricular septal defect Lower limb muscle weakness Hematemesis Depressed nasal bridge Waddling gait Arrhythmia Respiratory insufficiency due to muscle weakness Body odor Achilles tendon contracture Congenital hip dislocation Narrow face Heart block Quadricuspid aortic valve Skeletal muscle atrophy Global developmental delay Neonatal hypotonia Flexion contracture Proximal muscle weakness Muscular dystrophy Muscular hypotonia Dilated cardiomyopathy Supraventricular tachycardia High, narrow palate Intellectual disability, moderate Pectus carinatum Limb muscle weakness Osteopenia Dyspnea Posteriorly rotated ears Long philtrum Congestive heart failure Hyperglycemia Infantile muscular hypotonia Cryptorchidism Progressive muscle weakness Syncope Thoracic aortic aneurysm Paroxysmal atrial fibrillation Hypertelorism Dilatation Hernia Patent ductus arteriosus Inguinal hernia Osteoporosis Arachnodactyly Bruising susceptibility Low-set ears Ventricular hypertrophy Mitral regurgitation Left ventricular hypertrophy Back pain Disproportionate tall stature Striae distensae Soft skin Aortic dissection Myopia Pain Clinodactyly Syndactyly Hydrocephalus Stroke Renal insufficiency Glycosuria Astigmatism Hirsutism Joint hyperflexibility Delayed puberty Hypermetropia Arthrogryposis multiplex congenita Sparse hair Wide mouth Irritability Postnatal growth retardation Generalized muscle weakness Wide nose Feeding difficulties in infancy Decreased fetal movement Lumbar hyperlordosis Apnea Clumsiness Low-set, posteriorly rotated ears Abnormality of the nervous system Carcinoma Joint hypermobility Sleep disturbance Thick vermilion border Premature birth Apraxia Areflexia Eczema Overgrowth Hip dysplasia Diabetes mellitus Abnormality of the skin Growth hormone deficiency Webbed neck Nevus Hematuria Full cheeks Sepsis Muscular hypotonia of the trunk Macroglossia Tetraplegia Ascites Ophthalmoplegia Postural instability Coarse facial features Hypoglycemia Polyhydramnios Kyphoscoliosis Strabismus Downslanted palpebral fissures Macrocephaly Dysarthria Hepatomegaly Epicanthus Motor delay Delayed speech and language development Cognitive impairment Abnormal facial shape Neoplasm Talipes equinovarus Nystagmus Seizures Type 1 fibers relatively smaller than type 2 fibers Spinal deformities Abnormal glucose tolerance Limb joint contracture Nemaline bodies Insulin-resistant diabetes mellitus Difficulty running Centrally nucleated skeletal muscle fibers Bulbar palsy Ventriculomegaly Gastroesophageal reflux Hyperhidrosis Weak cry Insulin resistance Proptosis Hyperkeratosis Hyperinsulinemia Cerebral cortical atrophy Hypogonadism Brachydactyly Glucose intolerance Thick lower lip vermilion Anteverted nares Severe short stature Delayed skeletal maturation Absent speech Cerebral atrophy Multiple joint contractures Short nose Intellectual disability, mild Abnormality of the dentition Edema Short neck Epidermal acanthosis Conductive hearing impairment Hypoplasia of dental enamel Broad femoral neck Capillary malformation Triangular mouth Melena Deep plantar creases Thin nail Large face Papilloma Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Schwannoma Rhabdomyosarcoma Abnormal pulmonary valve morphology Hyperextensibility of the finger joints Pneumothorax Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Abnormal mitral valve morphology Asymmetric septal hypertrophy Deep palmar crease Labial hypoplasia Redundant neck skin Abnormality of the testis Bladder neoplasm Duodenal ulcer Central apnea Cardiomyocyte hypertrophy Increased corneal curvature Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Loose anagen hair Bladder carcinoma Ulnar deviation of the wrist Choroid plexus papilloma Neonatal sepsis Multifocal atrial tachycardia Embryonal rhabdomyosarcoma Deep-set nails Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Shyness Lack of skin elasticity Verrucae Decreased body weight Acanthosis nigricans Pleural effusion Failure to thrive in infancy Redundant skin Pyloric stenosis Hyperextensible skin Poor suck Laryngomalacia Relative macrocephaly Arnold-Chiari malformation Hemangioma Abnormal dermatoglyphics Cutis laxa Abnormality of the fingernails Bilateral cryptorchidism Short chin Abnormality of dental enamel Narrow palate Pointed chin Hoarse voice Abnormality of the hair Cafe-au-lait spot Hydrops fetalis Lymphedema Wide anterior fontanel Ventricular tachycardia Long eyelashes Heart murmur Hypoplastic toenails Large forehead Arnold-Chiari type I malformation Thick upper lip vermilion Large earlobe Woolly hair Progeroid facial appearance Barrel-shaped chest Megalencephaly Fragile nails Thickened nuchal skin fold Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Neonatal hypoglycemia Syringomyelia Tricuspid regurgitation Central hypotonia Tracheomalacia Generalized hyperpigmentation Ulnar deviation of finger Rhabdomyolysis Neuroblastoma Curly hair Keratoconus Reduced subcutaneous adipose tissue Neurodevelopmental delay Large for gestational age Rocker bottom foot Hyperpigmentation of the skin Proximal muscle weakness in upper limbs Absent muscle fiber emerin Thrombocytopenia Epistaxis Coarctation of aorta Gastrointestinal hemorrhage Asthma Nausea Abnormal cardiac septum morphology Hepatosplenomegaly Polydactyly Hip osteoarthritis Arterial tortuosity Dural ectasia Abnormal vertebral morphology Diarrhea Vomiting Respiratory distress Abdominal aortic aneurysm Protrusio acetabuli Fatigue Intervertebral disc degeneration Uterine prolapse Anemia Knee osteoarthritis Hearing impairment Short thumb Osteochondritis Dissecans Gustatory lacrimation Petechiae Down-sloping shoulders Truncus arteriosus Spondylolisthesis Short clavicles Thoracic scoliosis Absent radius Oligodactyly Short humerus Atrioventricular canal defect Absent thumb Limited elbow extension Hypoplastic left heart Aortic valve stenosis Right bundle branch block Bundle branch block Menorrhagia Hypoplasia of the ulna Bowing of the legs Triphalangeal thumb Low back pain Hypoplasia of the radius Eosinophilia Finger clinodactyly Horseshoe kidney Sensorineural hearing impairment Enlarged cochlear aqueduct Allergy Microdontia Epiphora Cupped ear Polycystic kidney dysplasia Atresia of the external auditory canal Renal hypoplasia/aplasia Multicystic kidney dysplasia Preauricular skin tag Renal dysplasia Renal hypoplasia Bilateral sensorineural hearing impairment Oligohydramnios Renal agenesis Ectopic kidney Intestinal malrotation Vesicoureteral reflux Bifid uvula Pulmonary hypoplasia Flat face Microphthalmia Microtia Paralysis Abnormality of the pinna Abnormality of the kidney Retrognathia Preauricular pit Premature graying of hair Cholesteatoma Cochlear malformation Dilatated internal auditory canal Incomplete partition of the cochlea type II Abnormal lacrimal duct morphology Abnormality of the cerebrum Abnormality of the renal collecting system Lacrimal duct aplasia Euthyroid goiter Unilateral renal hypoplasia Bilateral renal dysplasia Renal steatosis Hypoplasia of the cochlea Renal malrotation Mixed hearing impairment Branchial fistula Arteria lusoria Branchial cyst Abnormality of the middle ear ossicles Bilateral renal agenesis Overbite Lacrimal duct stenosis Ureteropelvic junction obstruction Lacrimation abnormality Stenosis of the external auditory canal External ear malformation Secundum atrial septal defect Ecchymosis Restricted neck movement due to contractures Lipodystrophy Rimmed vacuoles Spinal rigidity Difficulty climbing stairs Mildly elevated creatine phosphokinase Calf muscle hypertrophy Toe walking Myotonia Congenital muscular dystrophy Spinal muscular atrophy Limb-girdle muscular dystrophy Ventricular arrhythmia Sprengel anomaly EMG: myopathic abnormalities Reduced tendon reflexes Scapular winging Knee flexion contracture Elbow flexion contracture Thromboembolic stroke Frequent falls Palpitations Hypertriglyceridemia Myocardial infarction Sudden cardiac death Ankle contracture Progressive proximal muscle weakness Vertigo Peroneal muscle atrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Proximal spinal muscular atrophy Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Ventricular escape rhythm Peroneal muscle weakness Left anterior fascicular block Limb-girdle muscle atrophy Hydronephrosis Proximal lower limb amyotrophy Shoulder girdle muscle atrophy Vocal cord paralysis Atrial arrhythmia Increased LDL cholesterol concentration Abnormal atrioventricular conduction Supraventricular arrhythmia Proximal muscle weakness in lower limbs Distal lower limb muscle weakness Ventricular extrasystoles Shoulder girdle muscle weakness Distal lower limb amyotrophy Limb-girdle muscle weakness Proximal amyotrophy Falls Ichthyosis Complete atrioventricular canal defect Patellar subluxation Small hand Broad forehead Short philtrum Bicuspid aortic valve Thin upper lip vermilion Upslanted palpebral fissure Abnormality of the sternum Slender finger Abnormal joint morphology Subarachnoid hemorrhage Dilatation of the cerebral artery Lactose intolerance Convex nasal ridge Tibial torsion Aplasia of the pectoralis major muscle Mesoaxial polydactyly Short digit Aplasia of the ulna Partial duplication of thumb phalanx Abnormality of the carpal bones Small thenar eminence Total anomalous pulmonary venous return Phocomelia Anomalous pulmonary venous return Chest pain Limb undergrowth Headache Gait disturbance Joint stiffness Hyperlordosis Rigidity Difficulty walking Elevated serum creatine phosphokinase Umbilical hernia Obesity Midface retrusion Kyphosis Pes planus Camptodactyly Wide nasal bridge Dental crowding Migraine Dental malocclusion Osteoarthritis Reversed usual vertebral column curves Bacterial endocarditis Mastoiditis Asthenia Tricuspid valve prolapse Endocarditis Thromboembolism Abnormal heart valve morphology Atrial flutter



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