High palate, and Arrhythmia

Diseases related with High palate and Arrhythmia

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

Top matches:

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

CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (OMIM ).An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (OMIM ), and MYL3 (OMIM ) genes has also been reported in 1 family.

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Cardiomyopathy
  • Edema


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

Polyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.

POLYVALVULAR HEART DISEASE SYNDROME Is also known as phd syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Micrognathia
  • Ptosis
  • Low-set ears


SOURCES: ORPHANET MENDELIAN

More info about POLYVALVULAR HEART DISEASE SYNDROME

Other less relevant matches:

Low match CAP MYOPATHY

Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP MYOPATHY

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Related symptoms:

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


SOURCES: ORPHANET MENDELIAN

More info about CRISPONI SYNDROME

Hereditary sensory and autonomic neuropathy type VI is a severe autosomal recessive disorder characterized by neonatal hypotonia, respiratory and feeding difficulties, lack of psychomotor development, and autonomic abnormalities including labile cardiovascular function, lack of corneal reflexes leading to corneal scarring, areflexia, and absent axonal flare response after intradermal histamine injection (summary by Edvardson et al., 2012).For a discussion of genetic heterogeneity of hereditary sensory and autonomic neuropathy, see HSAN1 (OMIM ).

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6 Is also known as familial dysautonomia with contractures|hereditary sensory and autonomic neuropathy type vi|hsan6|hsan vi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Growth delay
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 6

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 56; MRD56

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about BLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS; BPES

Autosomal recessive cutis laxa type IB (ARCL1B) is characterized by the presence of severe systemic connective tissue abnormalities, including emphysema, cardiopulmonary insufficiency, birth fractures, arachnodactyly, and fragility of blood vessels. All symptoms refer to disturbed elastic fiber formation (summary by Hoyer et al., 2009).For a complete phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB; ARCL1B

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

Symptoms // Phenotype % cases
Low-set ears Uncommon - Between 30% and 50% cases
Micrognathia Uncommon - Between 30% and 50% cases
Pectus excavatum Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Mitral valve prolapse Feeding difficulties Long philtrum Abnormal facial shape Long face Seizures Flexion contracture Global developmental delay Microcephaly Depressed nasal bridge Bradycardia

Rare Symptoms - Less than 30% cases

Apnea Thin upper lip vermilion Pulmonic stenosis Convex nasal ridge Dental crowding Abnormal heart valve morphology Joint laxity Aortic root aneurysm Congenital diaphragmatic hernia Upslanted palpebral fissure Scarring Anteverted nares Respiratory insufficiency Open mouth Hyperhidrosis Hernia Short philtrum Growth delay Pain Tachycardia Broad forehead Narrow palpebral fissure Abnormality of the pinna Tricuspid regurgitation Dilatation Arachnodactyly Ventricular hypertrophy Atrial fibrillation Left ventricular hypertrophy Aortic aneurysm Cardiomyopathy Congestive heart failure Hypertrophic cardiomyopathy Short stature Ptosis Prominent forehead Intussusception Clumsiness Bulbous nose Joint hypermobility Postnatal microcephaly Prominence of the premaxilla Multiple joint dislocation Paraparesis Delayed myelination Hyperbilirubinemia Laryngomalacia Impulsivity Inverted nipples Spina bifida Arterial tortuosity Proptosis Pontocerebellar atrophy Apraxia Generalized tonic-clonic seizures Inability to walk Generalized arterial tortuosity Mastoiditis Bacterial endocarditis Quadricuspid aortic valve Reversed usual vertebral column curves Overgrowth Ataxia Spasticity Pulmonary artery aneurysm Nystagmus Hypoplasia of the corpus callosum Hydrocephalus Absent speech Recurrent fractures Hypothyroidism Hypoglycemia Protruding ear Attention deficit hyperactivity disorder Ganglioneuroblastoma Strabismus Inguinal hernia Increased circulating gonadotropin level Cutis laxa Abnormality of the hair Tricuspid valve prolapse Holoprosencephaly Premature ovarian insufficiency Cupped ear Hypoplasia of the uterus Short finger Congenital ptosis Emphysema Epicanthus inversus Unilateral ptosis Female infertility Premature atrial contractions Abnormality of the breast Abnormal lacrimal duct morphology Hypertelorism Downslanted palpebral fissures Primary amenorrhea Narrow forehead Epicanthus Narrow naris Wide nasal bridge Myopia Microphthalmia Biventricular hypertrophy Oligohydramnios Joint dislocation Telecanthus Camptodactyly Pulmonary insufficiency Amenorrhea Arterial stenosis Abnormality of the vasculature Blepharophimosis Hypermetropia Soft skin Synophrys Infertility Microcornea Asthenia Corneal scarring Endocarditis Poor head control Motor delay Myopathy Pes planus Facial palsy Lower limb muscle weakness Lumbar hyperlordosis Frequent falls Reduced tendon reflexes Easy fatigability Aortic valve stenosis Nasal speech Gowers sign Toe walking Increased variability in muscle fiber diameter Generalized amyotrophy Difficulty climbing stairs Difficulty running Thoracic scoliosis Muscle weakness Abnormality of the skin Central hypoventilation Cardiomegaly Stroke Pectus carinatum Aortic dissection Paroxysmal atrial fibrillation Thoracic aortic aneurysm Edema Depressivity Dilated cardiomyopathy Hydrops fetalis Prominent nose Cardiac arrest Ventricular arrhythmia Pterygium Right ventricular hypertrophy Left ventricular noncompaction Multiple pterygia Delayed skeletal maturation Dolichocephaly Joint hyperflexibility Lower limb amyotrophy Pes valgus Supraventricular tachycardia Intellectual disability, moderate Hand clenching Hypertension Alacrima Limited hip extension Blotching pigmentation of the skin Atrial septal defect Posteriorly rotated ears Dyspnea High, narrow palate Sensory neuropathy Small hand Chest pain Limb undergrowth Abnormality of the cardiovascular system Mitral regurgitation Aortic regurgitation Disproportionate tall stature Striae distensae Thromboembolism Short chin Neonatal hypotonia Sinus tachycardia Camptodactyly of finger Abnormality of muscle fibers Reduced systolic function Fatiguable weakness of proximal limb muscles Scoliosis Cognitive impairment Hypertonia Kyphosis Narrow mouth Wide nose Areflexia Sudden cardiac death Full cheeks Limitation of joint mobility Hypohidrosis Malignant hyperthermia Large face Peripheral neuropathy Fever Talipes equinovarus Pulmonary artery dilatation


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