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:

Medium match LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2


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

Medium match INTERMEDIATE NEMALINE MYOPATHY


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

Medium match GLYCOGEN STORAGE DISEASE IV; GSD4


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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Other less relevant matches:

Medium match CENTRAL CORE DISEASE OF MUSCLE; CCD


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

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 CHILDHOOD-ONSET NEMALINE MYOPATHY


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

Medium match NOONAN SYNDROME 8; NS8


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

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

Medium match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


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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