Cardiomyopathy, and Broad forehead

Diseases related with Cardiomyopathy and Broad forehead

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Broad forehead that can help you solving undiagnosed cases.


Top matches:

Medium match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Medium match NOONAN SYNDROME 6; NS6


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 6; NS6

Medium 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

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Other less relevant matches:

Medium 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

Medium match BARTH SYNDROME


Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.

BARTH SYNDROME Is also known as bths|3-methylglutaconic aciduria type 2|mgca2|x-linked cardioskeletal myopathy and neutropenia|cardioskeletal myopathy with neutropenia and abnormal mitochondria|mga2|mga, type ii|cardioskeletal myopathy-neutropenia syndrome|3-methylglutaconic aciduria, t

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BARTH SYNDROME

Medium match ACROMEGALY


Acromegaly is an acquired disorder related to excessive production of growth hormone (GH) and characterized by progressive somatic disfigurement (mainly involving the face and extremities) and systemic manifestations.

Related symptoms:

  • Neoplasm
  • Hypertension
  • Fatigue
  • Frontal bossing
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about ACROMEGALY

Medium match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Medium match ZIMMERMANN-LABAND SYNDROME


Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Medium match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Medium match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Broad forehead

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Broad forehead. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


High palate Generalized hypotonia Edema Hypertrophic cardiomyopathy Posteriorly rotated ears Low-set ears Abnormal facial shape Pulmonic stenosis Downslanted palpebral fissures Macrocephaly Congestive heart failure Pectus excavatum Depressed nasal bridge Motor delay Strabismus Triangular face Macrotia Sparse hair Ptosis Myopia Atrial septal defect Webbed neck Splenomegaly Mandibular prognathia Dilatation Muscular hypotonia Feeding difficulties Juvenile myelomonocytic leukemia Hypertension Abnormal heart morphology Micrognathia Neoplasm Short neck Failure to thrive Joint laxity Frontal bossing High, narrow palate Growth abnormality Hepatosplenomegaly Leukemia Mitral regurgitation Cryptorchidism Brachydactyly Cognitive impairment Low-set, posteriorly rotated ears Bilateral ptosis Sensorineural hearing impairment Polyhydramnios Coarse facial features High forehead Epicanthus Wide nasal bridge Depressivity

Rare Symptoms - Less than 30% cases


Dilated cardiomyopathy Abnormal bleeding Dolichocephaly Ventricular arrhythmia Reduced tendon reflexes Bilateral single transverse palmar creases Bruising susceptibility Patent ductus arteriosus Thick vermilion border Specific learning disability Long penis Sudden cardiac death Bulbous nose Wide nose Joint hypermobility Wide intermamillary distance Acanthosis nigricans Failure to thrive in infancy Hydrops fetalis Low posterior hairline Lymphedema Full cheeks Bicuspid aortic valve Delayed puberty Monocytosis Poor suck Protruding ear Feeding difficulties in infancy Abnormality of cardiovascular system morphology Thrombocytopenia Generalized hirsutism Cubitus valgus Myopathy Respiratory distress Fatigue Gait disturbance Microcephaly Diabetes mellitus Synophrys Macroglossia Thick lower lip vermilion Reduced factor XII activity Thickened skin Hernia Clinodactyly Gastroesophageal reflux Cafe-au-lait spot Cyanosis Dyspnea Hypogonadism Hearing impairment Delayed speech and language development Dental crowding Intellectual disability, mild Growth hormone deficiency Small hand Overgrowth Astigmatism Abdominal distention Long face Asymmetry of the thorax Arrhythmia Ascites Pain Long philtrum Intellectual disability, moderate Curly hair Thin upper lip vermilion Peripheral neuropathy Postnatal growth retardation Hyperkeratosis Hemangioma Anteverted nares Cataract Fine hair Mitral valve prolapse Proptosis Hepatomegaly Seizures Scoliosis Colpocephaly Aortic arch aneurysm Inguinal hernia Prominent forehead Pericarditis Gingival fibromatosis Hyperextensibility of the finger joints Slender long bone Prominent eyelashes Premature ovarian insufficiency Cavernous hemangioma Optic atrophy Biliary atresia Generalized hypertrichosis Nephroblastoma Everted upper lip vermilion Mesiodens High pitched voice Short distal phalanx of toe Pulmonary fibrosis Intellectual disability, severe Thin bony cortex J-shaped sella turcica Intellectual disability, profound Bilateral sensorineural hearing impairment Peripheral edema Delayed eruption of teeth Absent frontal sinuses Hirsutism Short distal phalanx of finger Thick eyebrow Fibroma Congenital cataract Hypoplastic frontal sinuses Wide mouth Constrictive pericarditis Umbilical hernia Pericardial constriction Polydactyly Abnormality of the skeletal system Small nail Hypertrichosis Dystrophic fingernails Metaphyseal widening Broad ribs Insulin-resistant diabetes mellitus Aortic root aneurysm Pericardial effusion Anonychia Large for gestational age Scaphocephaly Spina bifida occulta Weak voice Microglossia Accelerated skeletal maturation Myocardial fibrosis Intellectual disability, progressive Prominent superficial veins Hemivertebrae Gingival overgrowth Nephrolithiasis Protruding tongue Prominent fingertip pads Pectus carinatum Patent foramen ovale Abnormality of the vertebral column Male infertility Cystic hygroma Neurofibromas Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Radial deviation of finger Myelodysplasia Elevated alkaline phosphatase Abnormality of blood and blood-forming tissues Pterygium Arnold-Chiari malformation Azoospermia Plagiocephaly Amblyopia Left ventricular hypertrophy Clumsiness Primary amenorrhea Ventricular hypertrophy Coarctation of aorta Neuroblastoma Gonadal dysgenesis Dental malocclusion Hypoplastic aortic arch Preductal coarctation of the aorta Nasogastric tube feeding Reduced factor XIII activity Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Panuveitis Neurofibrosarcoma Superior pectus carinatum Amegakaryocytic thrombocytopenia Lymphangioma Arnold-Chiari type I malformation Optic disc hypoplasia Multiple lentigines Schwannoma Synovitis Shield chest Restrictive cardiomyopathy Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Amenorrhea Facial asymmetry Hypermetropia Deep philtrum Facial hypotonia Abnormal eyebrow morphology Neurodevelopmental delay Decreased muscle mass Proximal placement of thumb Overfolded helix Abnormality of the thorax Pleural effusion Cholelithiasis Torticollis Short attention span Vasculitis Aortic valve stenosis Hyperpigmentation of the skin Epistaxis Hip dysplasia Esotropia Lymphoma Highly arched eyebrow Falls Abnormality of the foot Hydrocele testis B-cell lymphoma Hypotrichosis Abnormality of the subarachnoid space Abnormal cardiac septum morphology Kyphoscoliosis Abdominal pain Rod-cone dystrophy Constipation Headache Vomiting Ventricular septal defect Fever Nystagmus Reduced factor X activity Abnormality of the spleen Reduced prothrombin activity Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Pulmonary lymphangiectasia Broad toe Pointed chin Chylothorax Hypochromic microcytic anemia Cachexia Widely spaced teeth Increased body weight Prolonged QT interval Periodic paralysis Abnormal T-wave Abnormal atrioventricular conduction Torsade de pointes T-wave inversion Left bundle branch block Ventricular extrasystoles Short finger Right bundle branch block First degree atrioventricular block 2-3 toe syndactyly Myotonia Short metatarsal Oligodontia Abnormal palate morphology Ventricular tachycardia Scapular winging Cardiac arrest Short phalanx of finger Delayed eruption of permanent teeth Clinodactyly of the 5th toe Palpitations Diarrhea Lethargy Stroke Facial palsy Proximal muscle weakness Deeply set eye Hypoglycemia Osteopenia Acidosis Recurrent infections Talipes equinovarus Short digit Muscle weakness 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 Hypoplasia of dental enamel Febrile seizures Talipes Short philtrum Disproportionate tall stature Aortic regurgitation Atrial fibrillation Abnormality of the cardiovascular system Limb undergrowth Convex nasal ridge Chest pain Tachycardia Upslanted palpebral fissure Striae distensae Long eyebrows Broad neck Relative macrocephaly Neuropathic arthropathy Arthropathy Absent eyebrow Sparse eyebrow Ichthyosis Peripheral axonal neuropathy Abnormal heart valve morphology Thromboembolism Short metacarpal Elevated serum creatine phosphokinase Syncope Broad nasal tip Hypoplasia of the maxilla Short palm Thin vermilion border Limb muscle weakness Toe syndactyly Retrognathia Clinodactyly of the 5th finger Syndactyly Supraventricular tachycardia Malar flattening Cleft palate Reversed usual vertebral column curves Quadricuspid aortic valve Bacterial endocarditis Mastoiditis Asthenia Tricuspid valve prolapse Endocarditis Ophthalmoplegia Lactic acidosis Insulin resistance Abnormal toenail morphology Hypersomnia Paraganglioma Pheochromocytoma Anterior hypopituitarism Deep palmar crease Neoplasm of the endocrine system Dysuria Abnormality of the endocrine system Broad foot Deep plantar creases Growth hormone excess Joint swelling Palpebral edema Spinal canal stenosis Generalized hyperpigmentation Impotence Large hands Acne Sleep apnea Galactorrhea Pituitary prolactin cell adenoma Abnormality of the fingernails Retinopathy Epidermal acanthosis Type II diabetes mellitus Pigmentary retinopathy Decreased antibody level in blood Nevus Hypodontia Cirrhosis Infertility Small for gestational age Abnormality of the nervous system Dysmenorrhea Severe short stature Hypoplasia of the corpus callosum Ventriculomegaly Intrauterine growth retardation Dysarthria Cortical diaphyseal thickening of the upper limbs Abnormality of reproductive system physiology Broad jaw Macrodactyly Cerebral palsy Hoarse voice Neutropenia Myopathic facies Endocardial fibroelastosis Skeletal myopathy Left ventricular failure Recurrent aphthous stomatitis Decreased plasma carnitine Left ventricular noncompaction Organic aciduria Mitochondrial myopathy Poor appetite Abnormality of mitochondrial metabolism Hypocholesterolemia Easy fatigability Hyperammonemia Recurrent bacterial infections Exercise intolerance Spontaneous abortion Eczema Aciduria Round face Sepsis Abnormality of the mitochondrion 3-Methylglutaconic aciduria Tall stature Intermittent lactic acidemia Osteoarthritis Migraine Tapered finger Paresthesia Anxiety Arthralgia Hyperhidrosis Kyphosis Abnormality of the dentition Recurrent infections in infancy and early childhood Abnormality of neutrophils Increased mitochondrial number Cyclic neutropenia Agranulocytosis Abnormal mitochondrial shape Abnormal mitochondrial morphology Pyoderma Prolonged QTc interval Abnormal endocardium morphology Granulocytopenia Postductal coarctation of the aorta



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