Congestive heart failure, and Pectus excavatum

Diseases related with Congestive heart failure and Pectus excavatum

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Pectus excavatum that can help you solving undiagnosed cases.

Top matches:

Medium 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

Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

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

Other less relevant matches:

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

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

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

GELEOPHYSIC DYSPLASIA Is also known as geleophysic dwarfism

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

Top 5 symptoms//phenotypes associated to Congestive heart failure and Pectus excavatum

Symptoms // Phenotype % cases
High palate Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Congestive heart failure and Pectus excavatum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Muscle weakness Respiratory insufficiency Long philtrum Ptosis Wide nasal bridge Hyperlordosis Motor delay Frequent falls Myopathy Facial palsy Epicanthus Hearing impairment Arthrogryposis multiplex congenita Falls Waddling gait Narrow face Full cheeks Knee flexion contracture Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Global developmental delay Cryptorchidism Micrognathia Cardiomyopathy Umbilical hernia Upslanted palpebral fissure Hypertrophic cardiomyopathy Small hand Proximal muscle weakness Inguinal hernia Joint stiffness Hypertelorism Short neck Joint contracture of the hand Cleft palate Dyspnea Difficulty climbing stairs Lumbar hyperlordosis Toe walking Respiratory distress Long face Pes planus Pes cavus

Rare Symptoms - Less than 30% cases

Recurrent respiratory infections Long fingers Thickened skin Bilateral talipes equinovarus Edema Narrow mouth Blepharophimosis Retinopathy Arrhythmia Wide intermamillary distance Spinal rigidity Hypoventilation Rigidity Mildly elevated creatine phosphokinase Mask-like facies Easy fatigability Myotonia Congenital contracture Areflexia Limb muscle weakness Dilated cardiomyopathy Neonatal hypotonia Strabismus Seizures Talipes equinovarus Shawl scrotum Cutis laxa Arachnodactyly Hypospadias Hernia Dilatation Hypertension Abnormal facial shape Sensorineural hearing impairment Microcephaly Lower limb muscle weakness External ear malformation Round face Anteverted nares Short foot Retrognathia Short palm Talipes Joint hyperflexibility Camptodactyly of finger Low-set, posteriorly rotated ears Mitral valve prolapse Abnormality of cardiovascular system morphology Aortic regurgitation Reduced tendon reflexes Feeding difficulties Increased variability in muscle fiber diameter Abnormality of the face Myopathic facies Difficulty running Dysphagia Pulmonic stenosis Muscular hypotonia Broad forehead Joint laxity Thin upper lip vermilion Decreased muscle mass Decreased fetal movement Facial diplegia Nemaline bodies Distal lower limb amyotrophy Posteriorly rotated ears Distal lower limb muscle weakness Slender build Shoulder girdle muscle atrophy Growth delay Progressive muscle weakness Congenital muscular dystrophy Kyphosis Hypertonia Muscular dystrophy Atrial fibrillation Respiratory failure Generalized muscle weakness Limb undergrowth Exophoria Duane anomaly Short nose Delayed skeletal maturation Smooth philtrum Severe short stature Unilateral ptosis Osteopenia Shock Hepatosplenomegaly Wide mouth Amyoplasia Small nail Cardiomegaly Ventricular hypertrophy Hepatomegaly Retinal fold Aortic valve stenosis Coxa valga Bicuspid aortic valve Short long bone Cone-shaped epiphysis Wormian bones High pitched voice Right ventricular hypertrophy Tracheal stenosis Dysostosis multiplex Ovoid vertebral bodies Redundant skin Renal diverticulum Firm muscles Vascular tortuosity Prematurely aged appearance Pulmonary artery stenosis Premature skin wrinkling Atelectasis Cor pulmonale Progressive sensorineural hearing impairment Bladder diverticulum Absent phalangeal crease Ileus Arterial stenosis Decreased facial expression Ascending tubular aorta aneurysm Dermal translucency Congenital finger flexion contractures Aortic aneurysm Round ear Lack of skin elasticity Congenital hemolytic anemia Supravalvular aortic stenosis Delayed cranial suture closure Emphysema Arterial fibromuscular dysplasia Bowel diverticulosis Keratoglobus Decreased palmar creases Ulnar deviation of the wrist Limited wrist extension Epiphyseal dysplasia Mitral stenosis Adducted thumb Thickened helices Lower limb asymmetry Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Vertebral segmentation defect Abnormality of the hip bone Periorbital fullness Irregular hyperpigmentation Restrictive ventilatory defect Hypoplastic nipples Neuroblastoma Tarsal synostosis Abnormality of the sternum Keratoconus Hamartoma Cerebellar vermis atrophy Increased number of skin folds Localized neuroblastoma Ulnar deviation of finger Abnormality of the foot Bilateral single transverse palmar creases Abnormality of retinal pigmentation Abnormal lung morphology Webbed neck Triangular face Abnormality of skin pigmentation Astigmatism Abnormality of eye movement Macular dystrophy Hypermetropia Ophthalmoplegia Protruding ear Camptodactyly Deeply set eye Alopecia Bilateral ptosis Clinodactyly Abnormality of the musculature Overlapping toe Hypoplasia of the capital femoral epiphysis Hypoplasia of the corpus callosum Telecanthus High forehead Tapetoretinal degeneration Brachycephaly Abnormal heart morphology Microphthalmia Intellectual disability, mild Depressed nasal bridge Abnormality of the rib cage Delayed speech and language development Low-set ears Short metacarpals with rounded proximal ends Irregular capital femoral epiphysis Tricuspid stenosis Abnormal electroretinogram Tip-toe gait Wrist flexion contracture Abnormality of the pinna Overlapping fingers Tricuspid regurgitation Short palpebral fissure Overfolded helix Optic nerve hypoplasia Scrotal hypoplasia Generalized hirsutism Hypoplasia of dental enamel Hypertrichosis Recurrent urinary tract infections Dandy-Walker malformation Microtia Febrile seizures Aplasia/Hypoplasia of the radius Abnormality of the skin Nevus Distal arthrogryposis Microcornea Flat face Severe global developmental delay J-shaped sella turcica Everted lower lip vermilion Bilateral sensorineural hearing impairment Feeding difficulties in infancy Foot dorsiflexor weakness Pulmonary hypoplasia Genu valgum Cough Paralysis Respiratory tract infection Apnea Akinesia Polyhydramnios Hyporeflexia Abnormality of the skeletal system Hyperreflexia Failure to thrive Reversed usual vertebral column curves Quadricuspid aortic valve Infantile muscular hypotonia Bulbar palsy Mastoiditis Late-onset distal muscle weakness Difficulty walking Elevated serum creatine phosphokinase Obesity Midface retrusion Gait disturbance Skeletal muscle atrophy Generalized amyotrophy Percussion myotonia Thin ribs Fetal distress Diaphragmatic paralysis Neck flexor weakness Breech presentation Type 1 muscle fiber predominance Fetal akinesia sequence EMG: neuropathic changes Bacterial endocarditis Asthenia Vertigo Centrally nucleated skeletal muscle fibers Pain Pes valgus Sinus tachycardia Abnormality of muscle fibers Myokymia Thoracic kyphosis Neck muscle weakness Reduced systolic function Atrial septal defect Fatiguable weakness of proximal limb muscles Muscle stiffness Open mouth Sensory impairment Narrow chest Pectus carinatum Distal muscle weakness Central hypoventilation Lower limb amyotrophy Tricuspid valve prolapse Mitral regurgitation Endocarditis Supraventricular tachycardia Thromboembolism Striae distensae Abnormal heart valve morphology Disproportionate tall stature Dental crowding Abnormality of the cardiovascular system Aortic root aneurysm Convex nasal ridge Chest pain High, narrow palate Tachycardia Short philtrum Intellectual disability, moderate Thoracic scoliosis Ichthyosis Sudden cardiac death Congenital diaphragmatic hernia Behavioral abnormality Single transverse palmar crease Oral cleft Cleft upper lip Finger syndactyly Attention deficit hyperactivity disorder Clinodactyly of the 5th finger Abnormality of the dentition Hypoplasia of the maxilla Downslanted palpebral fissures Poor head control Cognitive impairment Nasal speech Gowers sign Absent muscle fiber emerin Restricted neck movement due to contractures Delayed eruption of teeth Hyperextensible skin Proximal spinal muscular atrophy Hypothyroidism Oligohydramnios Overgrowth Vesicoureteral reflux Recurrent fractures Hemolytic anemia Hip dislocation Arthralgia Osteoporosis Broad palm Anemia Abnormal vertebral segmentation and fusion Abnormality of the cervical spine High anterior hairline Genu recurvatum Broad foot Megalocornea Decreased cervical spine flexion due to contractures of posterior cervical muscles Type 1 muscle fiber atrophy Syncope Back pain Sprengel anomaly Ankle contracture Rimmed vacuoles Calf muscle hypertrophy Spinal muscular atrophy Limb-girdle muscular dystrophy Lipodystrophy Atrioventricular block Progressive proximal muscle weakness Ventricular arrhythmia Scapular winging Elbow flexion contracture Bradycardia Palpitations Hypertriglyceridemia Myocardial infarction Heart block Vocal cord paralysis Proximal upper limb amyotrophy Peroneal muscle atrophy 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 Atrial arrhythmia Proximal amyotrophy Increased LDL cholesterol concentration Abnormal atrioventricular conduction Supraventricular arrhythmia Proximal muscle weakness in lower limbs Achilles tendon contracture Shoulder girdle muscle weakness Limb-girdle muscle weakness Internally rotated shoulders


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