Flexion contracture, and Abnormal heart morphology

Diseases related with Flexion contracture and Abnormal heart morphology

In the following list you will find some of the most common rare diseases related to Flexion contracture and Abnormal heart morphology that can help you solving undiagnosed cases.

Top matches:

Emery-Dreifuss muscular dystrophy is a genetically heterogeneous muscular disease that presents with muscular dystrophy, joint contractures, and cardiomyopathy with conduction defects (summary by Liang et al., 2011).For a discussion of genetic heterogeneity of EDMD, see {310300}.

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Cardiomyopathy
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT; EDMD7

EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4 Is also known as emery-dreifuss muscular dystrophy 4 with variable features

Related symptoms:

  • Generalized hypotonia
  • Flexion contracture
  • Motor delay
  • Talipes equinovarus
  • Elevated serum creatine phosphokinase


SOURCES: MESH OMIM MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL DOMINANT; EDMD4

Carney complex-trismus-pseudocamptodactyly syndrome is a rare genetic heart-hand syndrome characterized by typical manifestations of the Carney complex (spotty pigmentation of the skin, familial cardiac and cutaneous myxomas and endocrinopathy) associated with trismus and distal arthrogryposis (presenting as involuntary contraction of distal and proximal interphalangeal joints of hands evident only on dorsiflexion of wrist and similar lower-limb contractures producing foot deformities).

CARNEY COMPLEX-TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME Is also known as carney complex variant

Related symptoms:

  • Short stature
  • Talipes equinovarus
  • Narrow mouth
  • Camptodactyly of finger
  • Freckling


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX-TRISMUS-PSEUDOCAMPTODACTYLY SYNDROME

Other less relevant matches:

Distal nebulin myopathy is a rare, slowly progressive, autosomal recessive distal myopathy characterized by early onset of predominantly distal muscle weakness and atrophy affecting lower leg extensor muscles, finger extensors and neck flexors. Muscle histology does not always show nemaline rods.

DISTAL NEBULIN MYOPATHY Is also known as nebulin-related early-onset distal myopathy

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about DISTAL NEBULIN MYOPATHY

Reducing body myopathy (RBM) is a rare muscle disorder marked by progressive muscle weakness and the presence of characteristic inclusion bodies in affected muscle fibres.

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Short neck
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about REDUCING BODY MYOPATHY

Related symptoms:

  • Flexion contracture
  • Ventricular septal defect
  • Atrial septal defect
  • Camptodactyly
  • Arthrogryposis multiplex congenita


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY; APUG

Heart-hand syndrome of Slovenian type is a rare autosomal dominant form of heart-hand syndrome (see this term), first described in members of a Slovenian family, that is characterized by adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases.

HEART-HAND SYNDROME, SLOVENIAN TYPE Is also known as atriodigital dysplasia, slovenian type|cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Brachydactyly
  • Cardiomyopathy
  • Myopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HEART-HAND SYNDROME, SLOVENIAN TYPE

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Micrognathia
  • Intrauterine growth retardation
  • Ventricular septal defect


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 18; JBTS18

Myosin storage myopathy, also known as hyaline body myopathy, is a congenital myopathy characterized by the accumulation of ATPase and antibody positive myosin in hyaline subsarcolemmal bodies in type I muscle fibers. The clinical features are variable, with different patients displaying proximal, scapuloperoneal, or generalized weakness and progressive or nonprogressive courses (summary by Dye et al., 2006).

HYALINE BODY MYOPATHY Is also known as myopathy, hyaline body, autosomal dominant|myopathy with lysis of type i myofibrils

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Flexion contracture
  • Skeletal muscle atrophy
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYALINE BODY MYOPATHY

Nemaline myopathy-9 is an autosomal recessive muscle disorder characterized by onset of muscle weakness in early infancy. The phenotype is highly variable, ranging from death in infancy due to lack of antigravity movements, to slowly progressive distal muscle weakness with preserved ambulation later in childhood. Muscle biopsy shows typical rod-like structure in myofibers (summary by Gupta et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Cleft palate
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about NEMALINE MYOPATHY 9; NEM9

Top 5 symptoms//phenotypes associated to Flexion contracture and Abnormal heart morphology

Symptoms // Phenotype % cases
Muscle weakness Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases
Arthrogryposis multiplex congenita Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Abnormal heart morphology. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Progressive muscle weakness Scoliosis Ventricular septal defect Elevated serum creatine phosphokinase

Rare Symptoms - Less than 30% cases

Dilated cardiomyopathy Distal muscle weakness Respiratory insufficiency Micrognathia Camptodactyly Limb muscle weakness Neck muscle weakness Arrhythmia Muscular dystrophy Talipes equinovarus Motor delay Proximal amyotrophy Atrial fibrillation Abnormality of the foot Abnormality of eye movement Abnormality of the eye Joint laxity Kyphoscoliosis Polydactyly Supraventricular arrhythmia Intellectual disability, severe Abnormal atrioventricular conduction Intrauterine growth retardation Upper limb muscle weakness Growth delay Intellectual disability Horseshoe kidney Distal symphalangism of hands Aplasia of the middle phalanx of the hand Abnormal electrophysiology of sinoatrial node origin EMG: myopathic abnormalities Molar tooth sign on MRI Generalized limb muscle atrophy Breech presentation Fetal akinesia sequence Akinesia Narrow chest High palate Cleft palate Scapuloperoneal weakness Civatte bodies Scapuloperoneal amyotrophy Calf muscle pseudohypertrophy Skeletal muscle atrophy Reduced vital capacity Type 1 muscle fiber predominance Shoulder girdle muscle weakness Centrally nucleated skeletal muscle fibers Syndactyly Scapular winging Abnormality of the cardiovascular system Waddling gait Generalized muscle weakness Clinodactyly Full cheeks Brachydactyly Camptodactyly of finger Hyporeflexia Areflexia Kyphosis Short neck Cardiac myxoma Trismus Distal arthrogryposis Freckling Narrow mouth Rigidity Short stature Left ventricular septal hypertrophy Limb joint contracture Bilateral talipes equinovarus Congenital muscular dystrophy Decreased fetal movement Generalized hypotonia Bradycardia Respiratory failure Hyperlordosis Decreased hip abduction Pulmonic stenosis Atopic dermatitis Aseptic necrosis Multiple joint contractures Overlapping toe Pyloric stenosis Joint contracture of the hand Inflammatory abnormality of the skin Asthma Atrial septal defect Lower limb muscle weakness Rimmed vacuoles Spinal rigidity Increased variability in muscle fiber diameter Gowers sign Respiratory insufficiency due to muscle weakness Foot dorsiflexor weakness Frequent falls Lumbar hyperlordosis Falls Progressive distal muscle weakness


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