Cardiomyopathy, and Polyhydramnios
Diseases related with Cardiomyopathy and Polyhydramnios
In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Polyhydramnios that can help you solving undiagnosed cases.
Top matches:
Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.
LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 Is also known as multiple contracture syndrome, israeli-bedouin type|lccs2|multiple contracture syndrome, israeli bedouin type a
Related symptoms:
- Micrognathia
- Flexion contracture
- Myopia
- Skeletal muscle atrophy
- Ventricular septal defect
SOURCES:
MESH
ORPHANET
OMIM
MENDELIAN
More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2
Intermediate nemaline myopathy is a type of nemaline myopathy (NM; see this term) that shows features of typical NM (see this term) in neonates with a more severe progression.
Related symptoms:
- Hypertelorism
- Low-set ears
- Flexion contracture
- Motor delay
- Skeletal muscle atrophy
SOURCES:
ORPHANET
MENDELIAN
More info about INTERMEDIATE NEMALINE MYOPATHY
GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv
Related symptoms:
- Generalized hypotonia
- Failure to thrive
- Muscle weakness
- Muscular hypotonia
- Flexion contracture
SOURCES:
OMIM
MENDELIAN
More info about GLYCOGEN STORAGE DISEASE IV; GSD4
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Typical central core disease is a relatively mild congenital myopathy, usually characterized by motor developmental delay and signs of mild proximal weakness most pronounced in the hip girdle musculature. Orthopedic complications, particularly congenital dislocation of the hips and scoliosis, are common, and CCD patients are at risk of having malignant hyperthermia (MHS1 ). Onset of CCD is usually in childhood, although adult onset has also been reported, illustrating phenotypic variability (Jungbluth et al., 2009). Some patients can present in utero or at birth with severe congenital myopathy (Bharucha-Goebel et al., 2013).
CENTRAL CORE DISEASE OF MUSCLE; CCD Is also known as cco
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Scoliosis
- Muscle weakness
SOURCES:
OMIM
MENDELIAN
More info about CENTRAL CORE DISEASE OF MUSCLE; CCD
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
Childhood onset nemaline myopathy, or mild nemaline myopathy is a type of nemaline myopathy (NM; see this terms) characterized by distal muscle weakness, and sometimes slowness of muscle contraction.
CHILDHOOD-ONSET NEMALINE MYOPATHY Is also known as mild nemaline myopathy
Related symptoms:
- Generalized hypotonia
- Scoliosis
- Hypertelorism
- Micrognathia
- Ptosis
SOURCES:
ORPHANET
MENDELIAN
More info about CHILDHOOD-ONSET NEMALINE MYOPATHY
Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).
Related symptoms:
- Intellectual disability
- Short stature
- Scoliosis
- Hypertelorism
- Failure to thrive
SOURCES:
OMIM
MENDELIAN
More info about NOONAN SYNDROME 8; NS8
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
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
Top 5 symptoms//phenotypes associated to Cardiomyopathy and Polyhydramnios
Symptoms // Phenotype |
% cases |
Decreased fetal movement |
Common - Between 50% and 80% cases
|
Arthrogryposis multiplex congenita |
Common - Between 50% and 80% cases
|
Flexion contracture |
Common - Between 50% and 80% cases
|
Scoliosis |
Uncommon - Between 30% and 50% cases
|
Hypertelorism |
Uncommon - Between 30% and 50% cases
|
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Other less frequent symptoms
Patients with Cardiomyopathy and Polyhydramnios. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Myopathy
Motor delay
Ptosis
Hypertrophic cardiomyopathy
High palate
Short stature
Waddling gait
Generalized hypotonia
Type 1 muscle fiber predominance
Nemaline bodies
Myopathic facies
Generalized muscle weakness
Hyporeflexia
Areflexia
Feeding difficulties
Failure to thrive
EMG: myopathic abnormalities
Fetal akinesia sequence
Edema
Facial palsy
Skeletal muscle atrophy
Ventricular septal defect
Dilated cardiomyopathy
Cryptorchidism
Downslanted palpebral fissures
Macrocephaly
Talipes equinovarus
Epicanthus
Low-set ears
Respiratory failure
Proximal muscle weakness
Hyperlordosis
Respiratory insufficiency
Limb muscle weakness
Spinal rigidity
Cognitive impairment
Muscle weakness
Atrial septal defect
Micrognathia
Pulmonic stenosis
Intellectual disability
Pectus excavatum
Webbed neck
Difficulty walking
Akinesia
Respiratory insufficiency due to muscle weakness
Facial diplegia
Mildly elevated creatine phosphokinase
Rare Symptoms - Less than 30% cases
Recurrent respiratory infections
Curly hair
Knee flexion contracture
Kyphoscoliosis
Pulmonary hypoplasia
Neonatal hypotonia
Short neck
Reduced vital capacity
Slender build
Congenital hip dislocation
Posteriorly rotated ears
Generalized limb muscle atrophy
Breech presentation
Abnormal facial shape
Fatigable weakness of bulbar muscles
Patent ductus arteriosus
Leukemia
Global developmental delay
Narrow face
Scapular winging
Long face
Pes cavus
Reduced tendon reflexes
Congestive heart failure
Muscular dystrophy
Ophthalmoplegia
Dysphagia
Limb joint contracture
Congenital contracture
Exercise intolerance
Muscular hypotonia
Pterygium
Limb-girdle muscular dystrophy
Delayed speech and language development
Left ventricular hypertrophy
Myotonia
Low posterior hairline
Mask-like facies
Bulbar palsy
Bradykinesia
Ventricular hypertrophy
Abnormality of the cardiovascular system
Abnormal cardiac septum morphology
Hyperkeratosis
Clumsiness
Abnormal heart morphology
Neuromuscular dysphagia
Increased variability in muscle fiber diameter
Percussion myotonia
Increased muscle lipid content
Thin ribs
Fetal distress
Infantile muscular hypotonia
Poor fine motor coordination
EMG: neuropathic changes
Muscle stiffness
Neck flexor weakness
Bulbar signs
Neck muscle weakness
Diaphragmatic paralysis
Hypoventilation
Frequent falls
Foot dorsiflexor weakness
Elbow flexion contracture
Palmoplantar cutis laxa
Retrognathia
Joint laxity
Hypertonia
Respiratory distress
Abnormality of the skeletal system
Tented upper lip vermilion
Chylothorax
Hyperreflexia
Poor suck
Type 1 muscle fiber atrophy
Flexion contracture of finger
Calf muscle hypertrophy
Weak cry
Rigidity
Apnea
Joint contracture of the hand
Paralysis
Hip contracture
Hyperpigmentation of the skin
Relative macrocephaly
Falls
Genu valgum
Cough
Respiratory tract infection
Graves disease
Hyperextensible skin
Systemic lupus erythematosus
Pleural effusion
Feeding difficulties in infancy
Abnormality of the sternum
Acute lymphoblastic leukemia
Ankle contracture
Short nose
Narrow chest
Portal hypertension
Hepatic failure
Ascites
Sudden cardiac death
Hydrops fetalis
Hepatic fibrosis
Decreased liver function
Difficulty climbing stairs
Abnormality of the liver
Exertional dyspnea
Esophageal varix
Generalized edema
Tubulointerstitial fibrosis
Seizures
Cleft palate
Fever
Cirrhosis
Hepatosplenomegaly
Fatigue
High, narrow palate
Myopia
Hydronephrosis
High myopia
Vitreoretinopathy
Multiple pterygia
Degenerative vitreoretinopathy
Long philtrum
Premature birth
Dyspnea
Severe muscular hypotonia
Abnormality of the thorax
Hypokinesia
Multiple prenatal fractures
Hypertension
Peripheral neuropathy
Hepatomegaly
Intrauterine growth retardation
Pes planus
Pectus excavatum of inferior sternum
Thick lower lip vermilion
Juvenile myelomonocytic leukemia
Atrial septal dilatation
Dysplastic pulmonary valve
Depressed nasal bridge
Low-set, posteriorly rotated ears
Dental malocclusion
Wide intermamillary distance
Sparse and thin eyebrow
Myeloproliferative disorder
Sparse eyebrow
Cubitus valgus
Bilateral cryptorchidism
Abnormality of coagulation
Prolonged bleeding time
Blue irides
High anterior hairline
Hypoplastic nasal bridge
Sagittal craniosynostosis
Hip dislocation
Minicore myopathy
Talipes
Muscle cramps
Ophthalmoparesis
Centrally nucleated skeletal muscle fibers
Malignant hyperthermia
Skeletal myopathy
Stooped posture
Strabismus
Scaphocephaly
Frontal bossing
Anteverted nares
Craniosynostosis
Dolichocephaly
Mitral valve prolapse
Deep philtrum
Cystic hygroma
Late-onset distal muscle weakness
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