Cardiomyopathy, and Pectus excavatum

Diseases related with Cardiomyopathy and Pectus excavatum

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


Top matches:

Medium match NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE; NEM11


NEM11 is an autosomal recessive congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade. Affected individuals present with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck. Muscle biopsy shows nemaline bodies. Some patients may have mild cardiac or respiratory involvement, but they do not have respiratory failure (summary by Miyatake et al., 2017).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).

Related symptoms:

  • Muscle weakness
  • High palate
  • Gait disturbance
  • Dysphagia
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE; NEM11

Medium match CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3


Cardiofaciocutaneous syndrome (CFC) is a complex developmental disorder involving characteristic craniofacial features, cardiac anomalies, hair and skin abnormalities, postnatal growth deficiency, hypotonia, and developmental delay. Distinctive features of CFC3 include macrostomia and horizontal shape of palpebral fissures (Schulz et al., 2008).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 3; CFC3

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M


Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M

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Other less relevant matches:

Medium match EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1


Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (OMIM ). Genetic Heterogeneity of Emery-Dreifuss Muscular DystrophyAutosomal dominant Emery-Dreifuss muscular dystrophy-2 (EDMD2 ), is caused by mutation in the lamin A/C gene (LMNA ); autosomal recessive EDMD3 (OMIM ) is also caused by mutation in the LMNA gene. Additional autosomal dominant forms include EDMD4 (OMIM ), caused by mutation in the SYNE1 gene (OMIM ), EDMD5 (OMIM ), caused by mutation in the SYNE2 gene (OMIM ), and EDMD7 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ). A second X-linked form (EDMD6; see {300696}) is caused by mutation in the FHL1 gene (OMIM ).

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 Is also known as emd1|scapuloperoneal syndrome, x-linked, formerly|humeroperoneal neuromuscular disease, formerly|muscular dystrophy, tardive, dreifuss-emery type, with contractures

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

Medium match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Medium match NOONAN SYNDROME 4; NS4


Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: MESH OMIM MENDELIAN

More info about NOONAN SYNDROME 4; NS4

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

Medium match X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY


Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscular hypotonia
  • Ptosis
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED EMERY-DREIFUSS MUSCULAR DYSTROPHY

Medium match KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME


Klippel-Feil syndrome-4 with nemaline myopathy and facial dysmorphism is an autosomal recessive disorder characterized mainly by severe hypotonia apparent from infancy. Klippel-Feil anomaly is primarily defined by fusion of the cervical spine, with associated low posterior hairline and limited neck mobility being observed in about half of patients (summary by Alazami et al., 2015).For a general description and a discussion of genetic heterogeneity of Klippel-Feil syndrome, see KFS1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about KLIPPEL-FEIL ANOMALY-MYOPATHY-FACIAL DYSMORPHISM SYNDROME

Medium match CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY


Congenital fiber type disproportion myopathy (CFTDM) is a rare type of myopathy characterized by hypotonia and mild to severe generalized muscle weakness present at birth or within the first year of life.

CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY Is also known as cftdm

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL FIBER-TYPE DISPROPORTION MYOPATHY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Pectus excavatum

Symptoms // Phenotype % cases
Ptosis Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Scapular winging Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Pectus excavatum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature High palate Muscular hypotonia Scoliosis Waddling gait Reduced tendon reflexes Dilated cardiomyopathy Hyperlordosis Pulmonic stenosis Muscle weakness Motor delay Elbow flexion contracture Elevated serum creatine phosphokinase Micrognathia Flexion contracture Limb-girdle muscular dystrophy Type 1 muscle fiber atrophy Pes cavus Spinal rigidity Abnormal facial shape Proximal muscle weakness Talipes equinovarus Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Muscular dystrophy Short neck Atrial septal defect Growth delay Generalized hypotonia Posteriorly rotated ears Atrioventricular block Polyhydramnios Webbed neck Gowers sign Gait disturbance

Rare Symptoms - Less than 30% cases


Achilles tendon contracture Vocal cord paralysis Sprengel anomaly Feeding difficulties Rimmed vacuoles Ichthyosis Toe walking Arrhythmia Sudden cardiac death Lipodystrophy Back pain Joint stiffness Hypertriglyceridemia Myotonia Long philtrum Proximal muscle weakness in lower limbs Low-set ears Cryptorchidism Mitral valve prolapse Thin upper lip vermilion Ventricular septal defect Joint laxity Long face Macrocephaly Epicanthus Obesity Ankle contracture Atrial fibrillation Absent muscle fiber emerin Decreased cervical spine flexion due to contractures of posterior cervical muscles Proximal upper limb amyotrophy Ventricular escape rhythm Proximal muscle weakness in upper limbs Proximal lower limb amyotrophy Increased LDL cholesterol concentration Supraventricular arrhythmia Hypertelorism Downslanted palpebral fissures Kyphosis Calf muscle hypertrophy Nemaline bodies Reduced vital capacity Global developmental delay Generalized muscle weakness Curly hair Skeletal muscle atrophy Falls Tachycardia Lumbar hyperlordosis Frequent falls Failure to thrive Ophthalmoplegia Reversed usual vertebral column curves Endocarditis Tricuspid valve prolapse Asthenia Mastoiditis Bacterial endocarditis Quadricuspid aortic valve Ventriculomegaly Thromboembolism Palpitations Bradycardia Exertional dyspnea Flexion contracture of finger Hip contracture Respiratory insufficiency Supraventricular tachycardia Striae distensae Distal lower limb amyotrophy Chest pain Intellectual disability, moderate Short philtrum Broad forehead Facial palsy High, narrow palate Small hand Convex nasal ridge Abnormal heart valve morphology Limb undergrowth Abnormality of the cardiovascular system Respiratory failure Mitral regurgitation Dental crowding Aortic regurgitation Disproportionate tall stature Proximal amyotrophy Kyphoscoliosis Recurrent respiratory infections Knee flexion contracture Low posterior hairline Tented upper lip vermilion Bilateral ptosis Mild short stature Centrally nucleated skeletal muscle fibers Thoracolumbar scoliosis Congenital hip dislocation Everted lower lip vermilion Fused cervical vertebrae Decreased fetal movement Acetabular dysplasia Cervical C2/C3 vertebral fusion Pulmonary hypoplasia Limitation of neck motion Underdeveloped nasal alae Poor suck Weak cry Tip-toe gait Reduced ejection fraction Sinus bradycardia Distal lower limb muscle weakness Pelvic girdle muscle weakness Mildly elevated creatine phosphokinase Peroneal muscle atrophy Peroneal muscle weakness Bulbous nose Pelvic girdle muscle atrophy Weakness of facial musculature Restricted neck movement due to contractures Microcephaly Dysphagia Hypertension Clinodactyly Limb-girdle muscle weakness Poor head control Dyspnea Wide mouth Hydrocephalus Abnormality of the palpebral fissures Hyperkeratosis pilaris Heat intolerance Reduced bone mineral density Nevus Strabismus Atrial arrhythmia Postnatal growth retardation Hyperkeratosis Cognitive impairment Hyperhidrosis Abnormal heart morphology Hypoplasia of the corpus callosum Frontal bossing Hyporeflexia Myalgia Nystagmus Abnormal glycosylation Paralysis Muscle fiber hypertrophy Unsteady gait Moderately reduced ejection fraction Fatty replacement of skeletal muscle Hypoglycosylation of alpha-dystroglycan Neck flexor weakness Abnormality of the neck Wolff-Parkinson-White syndrome Motor deterioration Generalized amyotrophy Skeletal muscle hypertrophy Infantile muscular hypotonia Heart block Progressive proximal muscle weakness Anteverted nares Short nose Upslanted palpebral fissure Abnormality of coagulation Wide intermamillary distance Thick lower lip vermilion Sparse and thin eyebrow Sparse eyebrow Cubitus valgus Bilateral cryptorchidism Prolonged bleeding time Low-set, posteriorly rotated ears Blue irides High anterior hairline Pectus excavatum of inferior sternum Reduced muscle fiber merosin Pain Congestive heart failure Progressive muscle weakness Dental malocclusion Myopathic facies Patent ductus arteriosus Cystic hygroma Seizures Craniosynostosis Leukemia Dolichocephaly Deep philtrum Pterygium Scaphocephaly Depressed nasal bridge Sagittal craniosynostosis Myeloproliferative disorder Hypoplastic nasal bridge Juvenile myelomonocytic leukemia Atrial septal dilatation Dysplastic pulmonary valve Hypokinesia Fatigable weakness of bulbar muscles



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