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:
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
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:
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
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
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
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
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
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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