Cleft palate, and Dilated cardiomyopathy
Diseases related with Cleft palate and Dilated cardiomyopathy
In the following list you will find some of the most common rare diseases related to Cleft palate and Dilated cardiomyopathy that can help you solving undiagnosed cases.
Top matches:
Medium match EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY
EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY Is also known as myopathy, early-onset, with fatal cardiomyopathy|salih myopathy|eomfc
Related symptoms:
- Generalized hypotonia
- Scoliosis
- Hypertelorism
- Muscle weakness
- Ptosis
SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHYMedium match PGM1-CDG
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-CDGMedium 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
More info about ANDERSEN-TAWIL SYNDROME
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Other less relevant matches:
Medium match ARTERIAL TORTUOSITY SYNDROME
Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.
ARTERIAL TORTUOSITY SYNDROME Is also known as ats
Related symptoms:
- Intellectual disability
- Global developmental delay
- Scoliosis
- Hypertelorism
- Strabismus
More info about ARTERIAL TORTUOSITY SYNDROME
Medium match BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE
Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPE Is also known as young-simpson syndrome|ohdo syndrome|ohdo-madokoro-sonoda syndrome|say-barber-biesecker-young-simpson syndrome|bmrs, ohdo type|yss|blepharophimosis syndrome, ohdo type
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Microcephaly
SOURCES: ORPHANET OMIM MENDELIAN
More info about BLEPHAROPHIMOSIS-INTELLECTUAL DISABILITY SYNDROME, OHDO TYPEMedium match VICI SYNDROME
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.
VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: MESH OMIM ORPHANET MENDELIAN
More info about VICI SYNDROMEMedium match NAXOS DISEASE
Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma.
NAXOS DISEASE Is also known as keratosis palmoplantaris with arrhythmogenic cardiomyopathy|palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy|kwwh type i|keratoderma with woolly hair type i|mal de naxos|palmoplantar keratoderma with arrhythmogenic right ventricular cardiomyo
Related symptoms:
- Fatigue
- Cardiomyopathy
- Congestive heart failure
- Dilatation
- Arrhythmia
SOURCES: MESH ORPHANET OMIM MENDELIAN
More info about NAXOS DISEASEMedium match 1P36 DELETION SYNDROME
1p36 deletion syndrome is a chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
1P36 DELETION SYNDROME Is also known as del(1)(p36)|monosomy 1p36|monosomy 1pter|deletion 1pter|deletion 1p36|monosomy 1p36 syndrome|subtelomeric 1p36 deletion
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about 1P36 DELETION SYNDROMEMedium match JOHANSON-BLIZZARD SYNDROME
Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.
JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hearing impairment
SOURCES: ORPHANET OMIM MESH MENDELIAN
More info about JOHANSON-BLIZZARD SYNDROMEMedium 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
More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27
Top 5 symptoms//phenotypes associated to Cleft palate and Dilated cardiomyopathy
| Symptoms // Phenotype | % cases |
|---|---|
| Cardiomyopathy | Common - Between 50% and 80% cases |
| Abnormal facial shape | Common - Between 50% and 80% cases |
| Generalized hypotonia | Uncommon - Between 30% and 50% cases |
| Global developmental delay | Uncommon - Between 30% and 50% cases |
| Micrognathia | Uncommon - Between 30% and 50% cases |
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Other less frequent symptoms
Patients with Cleft palate and Dilated cardiomyopathy. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Growth delay Short stature Cardiac arrest Low-set ears Congestive heart failure Intellectual disability Hypertelorism Hypothyroidism Hearing impairment Scoliosis Arrhythmia Fatigue Atrial septal defect Dilatation Clinodactyly of the 5th finger Muscle weakness Muscular hypotonia Microcephaly Ventricular arrhythmia Cleft lip High palate Dyspnea Epicanthus Depressed nasal bridge Cleft upper lip Abnormality of the liver Cryptorchidism Ventricular hypertrophy Blepharophimosis Hypertrophic cardiomyopathy Congenital sensorineural hearing impairment Cognitive impairment Malar flattening Joint laxity Strabismus Respiratory failure Feeding difficulties Long philtrum Delayed myelination Abnormal cardiac septum morphology Failure to thrive Sensorineural hearing impairment Elevated serum creatine phosphokinase Myopathy Ventricular septal defect Motor delay Hypospadias Ptosis Abnormal heart morphology Left ventricular noncompaction Postnatal growth retardation
Rare Symptoms - Less than 30% cases
Anteriorly placed anus Optic atrophy Seizures Short nose Respiratory distress Nystagmus Myopia Hypertension Edema Right bundle branch block Oligodontia Ventricular extrasystoles Cataract Aplasia/Hypoplasia of the corpus callosum Infantile muscular hypotonia Anteverted nares Abnormal T-wave Hypoplasia of penis T-wave inversion Intestinal malrotation Ventriculomegaly Cerebral cortical atrophy Gastroesophageal reflux Joint stiffness Intellectual disability, severe Intrauterine growth retardation Posteriorly rotated ears Narrow mouth Microtia Delayed speech and language development Fair hair Microdontia Agenesis of corpus callosum EEG abnormality Clitoral hypertrophy Feeding difficulties in infancy Widely spaced teeth Congenital hypothyroidism Polymicrogyria Hiatus hernia Aortic root aneurysm Sepsis Telangiectasia of the skin Pyloric stenosis Scrotal hypoplasia Heterotopia Left ventricular hypertrophy Hip dysplasia Decreased body weight Pointed chin Abnormality of the dentition Ventricular tachycardia Ocular albinism Short phalanx of finger Delayed skeletal maturation Hepatic steatosis Tachycardia Elevated hepatic transaminase Bulbous nose Centrally nucleated skeletal muscle fibers Hypogonadism Sparse scalp hair Hydronephrosis Abnormality of the mandible Micropenis Thin upper lip vermilion Cardiomegaly Clinodactyly Depressivity Muscle flaccidity Abnormal blistering of the skin Brachydactyly Prominent forehead Intellectual disability, mild Bifid uvula Abnormality of the optic disc Upslanted palpebral fissure Palpitations Neonatal hypotonia Specific learning disability Hip dislocation Syncope Sudden cardiac death Abnormality of cardiovascular system morphology Alopecia Generalized muscle weakness Triangular face Hypoplasia of the maxilla Small for gestational age High, narrow palate Wide nose Kyphosis Absent speech Self-injurious behavior Obesity Cerebral atrophy Metatarsus adductus Hand polydactyly Midface retrusion Failure to thrive in infancy Hemiplegia/hemiparesis Abnormality of the skeletal system Behavioral abnormality Wide nasal bridge Prolonged QRS complex Right ventricular dilatation Paroxysmal ventricular tachycardia Abnormal right ventricle morphology Ventricular flutter Abnormal morphology of right ventricular trabeculae Abnormal heart valve morphology Infantile spasms Visual impairment High hypermetropia Hydrocephalus Downslanted palpebral fissures Macule Gait disturbance Frontal bossing Polyphagia Hypermelanotic macule Dysphagia Dysphasia Delayed cranial suture closure Hypoplasia of the corpus callosum Patent ductus arteriosus Hypercholesterolemia Patent foramen ovale Abnormality of the ribs Coloboma Pachygyria Mitral regurgitation Camptodactyly of finger Hypertrichosis Depressed nasal ridge Neurological speech impairment Tetraparesis Interphalangeal joint contracture of finger Hypsarrhythmia Coarctation of aorta Abnormality of the eye Optic disc pallor Tetralogy of Fallot Epileptic encephalopathy Abnormality of the skin Abnormality of the cerebral white matter Brain atrophy Renal cyst Hypermetropia Synophrys Short foot Poor speech Abnormality of the pinna Camptodactyly Abnormality of vision Abnormal intestine morphology Delayed gross motor development Constipation Sacral dimple Pes cavus Bicuspid aortic valve Brachycephaly Leukoencephalopathy Oral cleft Cranial nerve paralysis Autism Spastic tetraparesis Large fontanelles Narrow palpebral fissure Mandibular prognathia Deeply set eye Conductive hearing impairment Generalized hirsutism Aggressive behavior Wide anterior fontanel Low-set, posteriorly rotated ears Stereotypy Telangiectasia Abnormality of the kidney Abnormality of the immune system Rib fusion Absent septum pellucidum Growth hormone deficiency Steatorrhea Hydroureter Dextrocardia Portal hypertension Abnormality of the genitourinary system Severe muscular hypotonia Hyperbilirubinemia Hypocalcemia Abnormality of the nail Situs inversus totalis Cafe-au-lait spot Cholestasis Convex nasal ridge Underdeveloped nasal alae Glycosuria Abdominal distention Delayed eruption of teeth Single transverse palmar crease Downturned corners of mouth Hepatic failure Anal atresia Malabsorption Hypotrichosis Diabetes mellitus Severe short stature Hepatomegaly Anemia Agenesis of the anterior commissure Solitary renal cyst Agenesis of permanent teeth Hypopituitarism Abnormality of the cerebral ventricles Colonic diverticula Right ventricular hypertrophy Tricuspid regurgitation Pterygium Hydrops fetalis Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Anasarca Septate vagina Absent lacrimal punctum Increased VLDL cholesterol concentration Abnormality of the nares Hypoplastic nipples Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Abnormality of the pancreas Rectovaginal fistula Hypoproteinemia Abnormal hair pattern Calvarial skull defect Exocrine pancreatic insufficiency Anal stenosis Facial cleft Abnormality of the renal pelvis Abnormal parietal bone morphology Slender long bone Lower limb asymmetry Abnormal renal physiology Colpocephaly Thickened helices Abnormality of hair texture Delayed closure of the anterior fontanelle Abnormality of the spleen Redundant neck skin Volvulus Delayed CNS myelination Dilation of lateral ventricles Abnormality of the testis 11 pairs of ribs Abnormality of the neck Optic nerve coloboma Biliary tract abnormality Abnormality of the gastrointestinal tract Missing ribs Short 5th finger Coronal craniosynostosis Abnormal eyebrow morphology Self-mutilation Arnold-Chiari type I malformation Overweight Epileptic spasms Abnormal lung lobation Foot polydactyly Spinal canal stenosis Submucous cleft hard palate Neuroblastoma Abnormal left ventricle morphology Abnormality of chromosome stability Hyperplastic labia majora Abnormal social behavior Aplasia/Hypoplasia involving bones of the feet Congenital talipes calcaneovalgus Bilobate gallbladder Widened subarachnoid space Abnormality of the femoral neck Ebstein anomaly of the tricuspid valve Bifid ribs Hypoplastic female external genitalia Abnormality of the hairline Oppositional defiant disorder Asymmetry of the ears Noncompaction cardiomyopathy Cranial nerve VI palsy Talipes valgus Cavum septum pellucidum Abnormal external genitalia Horizontal eyebrow Hypoplastic labia minora Annular pancreas Aortic arch aneurysm Abnormality of brain morphology Expressive language delay Abnormality of the anus Gastric ulcer Abnormality of female external genitalia Lambdoidal craniosynostosis Impaired social interactions Abnormal corpus callosum morphology Periventricular leukomalacia Acantholysis Optic neuropathy Right ventricular cardiomyopathy Short digit Macrotia Inguinal hernia Macrocephaly Aplasia/Hypoplasia of the maxilla Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Muscle fiber tubular inclusions Effort-induced polymorphic ventricular tachycardias Periodic hypokalemic paresis Short mandibular rami Clinodactyly of the 5th toe Joint hyperflexibility First degree atrioventricular block Delayed eruption of permanent teeth Periodic paralysis Abnormal atrioventricular conduction Torsade de pointes Left bundle branch block Short finger Prolonged QT interval 2-3 toe syndactyly Myotonia Short metatarsal Growth abnormality Craniosynostosis Arachnodactyly Abnormal palate morphology Aortic dissection Talipes equinovarus Abnormality of the zygomatic bone Abnormal carotid artery morphology Keratoglobus Long palm Median cleft lip and palate Femoral hernia Arterial stenosis Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Myocarditis Esophagitis Cardiorespiratory arrest Long face Pulmonary artery stenosis Prematurely aged appearance Keratoconus Rocker bottom foot Aortic aneurysm Redundant skin Hyperextensible skin Coxa vara Coxa valga Thin skin Myocardial infarction Short palpebral fissure Reduced tendon reflexes Scapular winging Proteinuria Cleft soft palate Hypogonadotrophic hypogonadism Hepatitis Chest pain Muscle cramps Delayed puberty Hypoglycemia Fever Mitochondrial depletion Minicore myopathy Increased endomysial connective tissue Abnormal levels of creatine kinase in blood Ankle contracture Abnormality of the coagulation cascade Difficulty running Difficulty climbing stairs Myopathic facies Calf muscle hypertrophy Congenital muscular dystrophy Radioulnar synostosis Knee flexion contracture Webbed neck Arthrogryposis multiplex congenita Muscular dystrophy Facial palsy Flexion contracture Exercise intolerance Rhabdomyolysis Bilateral single transverse palmar creases Syndactyly Hypoplasia of dental enamel Febrile seizures Short metacarpal Broad nasal tip Small hand Short palm Thin vermilion border Limb muscle weakness Toe syndactyly Dolichocephaly Broad forehead Retrognathia Abnormal protein glycosylation Malignant hyperthermia Type II transferrin isoform profile Cerebral venous thrombosis Increased muscle glycogen content Exercise-induced muscle fatigue Increased intramyocellular lipid droplets Reduced antithrombin III activity Decreased serum insulin-like growth factor 1 Chronic hepatitis Type I transferrin isoform profile Small face Hyperinsulinemic hypoglycemia Pierre-Robin sequence Microphthalmia Talipes Hypergranulosis Abnormal posturing Cutaneous anergy Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Abnormal macular morphology Abnormality of the cerebellar vermis Abnormality of the thymus Recurrent aspiration pneumonia Decreased proportion of CD4-positive T cells Pontocerebellar atrophy Granulocytopenia Recurrent fungal infections Aplasia/Hypoplasia of the macula Hypopigmentation of the fundus Cellular immunodeficiency Hypoplasia of the thymus Recurrent viral infections Abnormal cortical gyration Chronic mucocutaneous candidiasis Hypoplasia of the pons Renal tubular dysfunction Depressed nasal tip Severe failure to thrive Aspiration pneumonia IgG deficiency Decreased T cell activation Ureteral atresia Hypopigmentation of hair Long eyelashes Onycholysis Reduced ejection fraction Clubbing of fingers Woolly hair Alopecia of scalp Curly hair Fragile skin Exertional dyspnea Akinesia Brittle hair Acanthosis nigricans Sparse and thin eyebrow Epidermal acanthosis Immunoglobulin IgG2 deficiency Cyanosis Ectodermal dysplasia Palmoplantar keratoderma Vertigo Nail dystrophy Erythema Hyperkeratosis Hyperhidrosis Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Severe sensorineural hearing impairment Abnormality of immune system physiology Recurrent otitis media Peripheral neuropathy Coarse facial features Acidosis Rod-cone dystrophy Recurrent respiratory infections Cerebellar hypoplasia Pneumonia Recurrent infections Immunodeficiency Hypertonia Cerebellar atrophy Hyperreflexia Spasticity Respiratory tract infection Multiple bladder diverticula Neonatal asphyxia Abnormal palmar dermatoglyphics Epicanthus inversus Patellar hypoplasia Hypoplasia of teeth Prominent occiput Heart murmur Abnormality of the outer ear Torticollis Macular degeneration Amblyopia Muscular hypotonia of the trunk Severe global developmental delay Renal tubular acidosis Progressive microcephaly Bronchitis Macular atrophy Neurodevelopmental delay Combined immunodeficiency Albinism Poor suck Adducted thumb Leukopenia Recurrent bacterial infections Increased body weight Aspiration Lymphopenia Decreased liver function Congenital cataract Abnormality of retinal pigmentation Open mouth Progressive neurologic deterioration Cerebellar vermis hypoplasia Hypotelorism Narrow forehead Decreased antibody level in blood Hypopigmentation of the skin Neutropenia Sleep disturbance Thick vermilion border Pulmonary hypoplasia Multiple pterygia
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