High palate, and Sudden cardiac death

Diseases related with High palate and Sudden cardiac death

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


Top matches:

High match CRISPONI SYNDROME


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

High 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

High match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL SYNDROME

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Other less relevant matches:

High match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

High match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

High match CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1


Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

High match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27


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

High match LOEYS-DIETZ SYNDROME


Loeys-Dietz syndrome is a rare genetic connective tissue disorder characterized by a broad spectrum of craniofacial, vascular and skeletal manifestations with four genetic subtypes described forming a clinical continuum.

LOEYS-DIETZ SYNDROME Is also known as aortic aneurysm syndrome due to tgf-beta receptors anomalies|aneurysm, aortic and cerebral, with arterial tortuosity and skeletal manifestations

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • High palate
  • Downslanted palpebral fissures


SOURCES: OMIM ORPHANET MENDELIAN

More info about LOEYS-DIETZ SYNDROME

High match VAN DEN ENDE-GUPTA SYNDROME


Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features.

VAN DEN ENDE-GUPTA SYNDROME Is also known as marden-walker-like syndrome|vdegs|blepharophimosis, arachnodactyly, and congenital contractures|marden-walker-like syndrome without psychomotor retardation

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about VAN DEN ENDE-GUPTA SYNDROME

High match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Top 5 symptoms//phenotypes associated to High palate and Sudden cardiac death

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Micrognathia Uncommon - Between 30% and 50% cases
Malar flattening Uncommon - Between 30% and 50% cases
Cardiac arrest Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with High palate and Sudden cardiac death. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Cleft palate Low-set ears Depressivity Ventricular arrhythmia Arrhythmia Congestive heart failure Intellectual disability Hypertelorism Respiratory insufficiency Cognitive impairment Flexion contracture Feeding difficulties Kyphosis Dilated cardiomyopathy Retrognathia Joint laxity Facial palsy Short palm Wide nose Hypoplasia of the maxilla Triangular face Blepharophimosis Palpitations Myotonia Elbow flexion contracture Scapular winging Syncope Dolichocephaly Clinodactyly Respiratory distress Global developmental delay Large face Muscle weakness Muscular hypotonia Pectus excavatum Wide nasal bridge Talipes equinovarus Cardiomyopathy Narrow mouth Hyperhidrosis

Rare Symptoms - Less than 30% cases


Short phalanx of finger Short metatarsal Growth abnormality Clinodactyly of the 5th finger Oligodontia Syndactyly Ventricular tachycardia Short neck Brachydactyly Thin upper lip vermilion Specific learning disability Hypoplasia of dental enamel Abnormality of the skeletal system Short metacarpal Microcephaly Broad forehead Small hand High, narrow palate Toe syndactyly Hyporeflexia Bulbous nose Prolonged QT interval Bidirectional ventricular ectopy Periodic paralysis Spasticity Mitral valve prolapse Blue sclerae Tricuspid regurgitation Narrow nose Striae distensae Underdeveloped nasal alae Camptodactyly Bruising susceptibility Pes planus Intellectual disability, severe Fever Failure to thrive Depressed nasal bridge Pain Cerebral calcification Joint hyperflexibility Delayed eruption of permanent teeth Growth delay Clinodactyly of the 5th toe Short mandibular rami Periodic hypokalemic paresis Antegonial notching of mandible Ataxia Prominent frontal sinuses Hypertension Craniosynostosis Bicuspid aortic valve Edema Short stature Dilatation Hypothyroidism Arachnodactyly Renal insufficiency 2-3 toe syndactyly Limitation of joint mobility Elevated serum creatine phosphokinase Camptodactyly of finger Long philtrum Knee flexion contracture Falls Limb muscle weakness Hypertonia Myocardial infarction Anteverted nares Slender long bone Full cheeks Dyspnea Abnormal atrioventricular conduction Hypohidrosis Reduced tendon reflexes Malignant hyperthermia Hypertrophic cardiomyopathy Generalized hypotonia Ptosis Hyperlordosis Gait disturbance Scaphocephaly Persistence of primary teeth Hyperthyroidism Round face Highly arched eyebrow Tapered finger Apnea Carious teeth Attention deficit hyperactivity disorder Feeding difficulties in infancy Irritability Ambiguous genitalia Interphalangeal joint contracture of finger Cyanosis Acute kidney injury Hypopnea Temperature instability Velopharyngeal insufficiency Long nose Central apnea Trismus Abnormal heart valve morphology Episodic fever Limited elbow extension Dehydration Opisthotonus Disproportionate tall stature Overlapping toe Keratitis Radial deviation of finger Nasal speech Adducted thumb Recurrent urinary tract infections Generalized-onset seizure Kyphoscoliosis Periodic hyperkalemic paralysis Toe clinodactyly Sleep apnea Bowel incontinence Dysphasia Emotional lability Oral-pharyngeal dysphagia Self-injurious behavior Precocious puberty Encephalitis Dysphonia Leukoencephalopathy Muscle fibrillation Abnormal autonomic nervous system physiology Muscle stiffness Leukodystrophy Clonus Diplopia Peripheral demyelination Amenorrhea Hypotension Progressive spasticity Atrophy/Degeneration affecting the brainstem Polyhydramnios Hyperpigmented nevi Mandibular prognathia Short nose Hypoplasia of the corpus callosum Bilateral camptodactyly Delayed speech and language development Cryptorchidism Diffuse demyelination of the cerebral white matter Microcoria Recurrent singultus Drowsiness Progressive macrocephaly Pseudobulbar signs Hypersomnia Aqueductal stenosis Bulbar signs Hypothermia Megalencephaly Poor coordination Increased CSF protein Unexplained fevers Ventricular hypertrophy Hypernatremic dehydration Slender metacarpals Long hallux Ulnar bowing Camptodactyly of toe Narrow foot Distal ulnar hypoplasia Glenoid fossa hypoplasia Uterine rupture Long metacarpals Abnormality of the dentition Eclabion Delayed skeletal maturation Arterial dissection Gait ataxia Dural ectasia Paralysis Pulmonic stenosis Facial asymmetry Gliosis Arterial tortuosity Lateral clavicle hook Hypoplastic scapulae Thoracic aortic aneurysm Laryngomalacia Convex nasal ridge Asthma Everted lower lip vermilion Protruding ear Hydronephrosis Macrotia Bowing of the long bones Dental crowding Joint contracture of the hand Congenital contracture Choanal stenosis Stridor Hallux valgus Femoral bowing Narrow nasal bridge Thin ribs Dislocated radial head Abnormal eyebrow morphology Sclerocornea Single umbilical artery Tachycardia Pneumothorax Smooth tongue Left ventricular noncompaction Preauricular pit Oral cleft Pectus carinatum Loss of consciousness Inguinal hernia Patent ductus arteriosus Downslanted palpebral fissures High pitched voice Multiple pterygia Right ventricular hypertrophy Bifid uvula Pterygium Hydrops fetalis Hyperkalemia Agenesis of permanent teeth Left ventricular hypertrophy Dandy-Walker malformation Cardiomegaly Cold-induced sweating Facial tics Abnormal bleeding Thin skin Spondylolisthesis Emphysema Aortic dissection Atypical scarring of skin Dilatation of the cerebral artery Inability to walk Subarachnoid hemorrhage Short foot Aortic root aneurysm Delayed eruption of teeth Abnormality of the sternum Coarctation of aorta Hypokalemia Renal hypoplasia Short palpebral fissure Aortic aneurysm Tetraparesis Ectopia lentis Decreased body weight Joint dislocation Tall stature Short chin Chorea Intermittent claudication Tetraplegia Type 1 muscle fiber atrophy Abnormal palate morphology Bilateral single transverse palmar creases Febrile seizures Broad nasal tip Thin vermilion border Absent muscle fiber emerin Restricted neck movement due to contractures Decreased cervical spine flexion due to contractures of posterior cervical muscles Proximal spinal muscular atrophy Proximal upper limb amyotrophy Short finger Scapuloperoneal amyotrophy Ventricular escape rhythm Peroneal muscle weakness Left anterior fascicular block Limb-girdle muscle atrophy Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Peroneal muscle atrophy Shoulder girdle muscle atrophy Right bundle branch block Ventricular extrasystoles Increased LDL cholesterol concentration Intrauterine growth retardation Small for gestational age Stroke Skin rash Retinopathy Scarring Reduced visual acuity Visual loss Abnormality of cardiovascular system morphology Blindness Myopia Left bundle branch block Visual impairment Aplasia/Hypoplasia of the maxilla Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Short digit First degree atrioventricular block Abnormal T-wave Torsade de pointes T-wave inversion Atrial arrhythmia Supraventricular arrhythmia Pruritus Muscular dystrophy Bradycardia Progressive muscle weakness Frequent falls Hypertriglyceridemia Atrial fibrillation Waddling gait Vertigo Ichthyosis Lower limb muscle weakness Joint stiffness EMG: myopathic abnormalities Proximal muscle weakness Neonatal hypotonia Rigidity Difficulty walking Pes cavus Obesity Midface retrusion Myopathy Skeletal muscle atrophy Respiratory insufficiency due to muscle weakness Atrioventricular block Proximal muscle weakness in lower limbs Sprengel anomaly Distal lower limb muscle weakness Achilles tendon contracture Shoulder girdle muscle weakness Distal lower limb amyotrophy Limb-girdle muscle weakness Proximal amyotrophy Vocal cord paralysis Progressive proximal muscle weakness Heart block Ankle contracture Back pain Rimmed vacuoles Spinal rigidity Difficulty climbing stairs Mildly elevated creatine phosphokinase Calf muscle hypertrophy Toe walking Congenital muscular dystrophy Spinal muscular atrophy Limb-girdle muscular dystrophy Lipodystrophy Papule Abnormality of skin pigmentation Sleep disturbance Peripapillary chorioretinal atrophy Motor delay Nystagmus Medial calcification of small arteries Abnormal atrioventricular valve morphology Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Erythematous papule Subretinal fluid Peau d'orange Medial calcification of large arteries Dysarthria Generalized arterial calcification Localized skin lesion Hyperkeratotic papule Arterial calcification Subcutaneous calcification Vascular calcification Accelerated atherosclerosis Civatte bodies Abnormality of connective tissue Hyperreflexia Macrocephaly Metamorphopsia Osteopenia Dysmetria Abnormality of eye movement Nausea and vomiting Abnormality of the cerebral white matter Neurological speech impairment Cough Abnormal pyramidal sign Developmental regression EEG abnormality Weight loss Tremor Respiratory failure Diabetes mellitus Dementia Agenesis of corpus callosum Constipation Vomiting Hydrocephalus Dysphagia Frontal bossing Renovascular hypertension Angioid streaks of the fundus Postural instability Hyperextensible skin Abnormal retinal morphology Hypermelanotic macule Coronary artery atherosclerosis Cutis marmorata Hemiplegia/hemiparesis Acne Abnormality of the thorax Intracranial hemorrhage Redundant skin Ischemic stroke Multiple lipomas Cutis laxa Atherosclerosis Macular degeneration Nephrocalcinosis Subcutaneous nodule Mitral regurgitation Abnormality of the cardiovascular system Abnormality of the skin Gastrointestinal hemorrhage Chorioretinal atrophy Telangiectasia of the skin Retinal hemorrhage Abnormal thrombocyte morphology Abnormal endocardium morphology Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Excessive wrinkled skin Arteriosclerosis Arterial stenosis Pulmonary edema Abnormal mitral valve morphology Redundant neck skin Severe vision loss Restrictive cardiomyopathy Lack of skin elasticity Angina pectoris Peripheral arterial stenosis Abnormality of the cerebral vasculature Mitral stenosis Drusen Thickened nuchal skin fold Abnormality of the mouth Severe intrauterine growth retardation Prominent U wave



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