Edema, and Hyperlordosis

Diseases related with Edema and Hyperlordosis

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

Top matches:

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by progressive muscle weakness with focal involvement of the facial, shoulder and limb muscles.

FACIOSCAPULOHUMERAL DYSTROPHY Is also known as fsh dystrophy|fshd|landouzy-dejerine myopathy|facioscapulohumeral muscular dystrophy|facioscapulohumeral myopathy

Related symptoms:

  • Sensorineural hearing impairment
  • Skeletal muscle atrophy
  • Abnormality of cardiovascular system morphology
  • Elevated serum creatine phosphokinase
  • Hyperlordosis


SOURCES: ORPHANET MENDELIAN

More info about FACIOSCAPULOHUMERAL DYSTROPHY

Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

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

Other less relevant matches:

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

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

Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). Genetic Heterogeneity of Susceptibility to Malignant HyperthermiaOther MHS loci include MHS2 (OMIM ) on chromosome 17q; MHS3 (OMIM ) on chromosome 7q; MHS4 (OMIM ) on chromosome 3q; MHS5 (OMIM ), caused by mutation in the CACNA1S gene (OMIM ) on chromosome 1q32; and MHS6 (OMIM ) on chromosome 5p.

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1 Is also known as mhs|hyperthermia of anesthesia|mh|hyperpyrexia, malignant

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1; MHS1

Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Nemaline myopathy-2 is an autosomal recessive skeletal muscle disorder with a wide range of severity. The most common clinical presentation is early-onset (in infancy or childhood) muscle weakness predominantly affecting proximal limb muscles. Muscle biopsy shows accumulation of Z-disc and thin filament proteins into aggregates named 'nemaline bodies' or 'nemaline rods,' usually accompanied by disorganization of the muscle Z discs. The clinical and histologic spectrum of entities caused by variants in the NEB gene is a continuum, ranging in severity from the severe form with perinatal onset and fetal death to milder forms with later onset. The distribution of weakness can vary from generalized muscle weakness, more pronounced in proximal limb muscles, to distal-only involvement, although neck flexor weakness appears to be rather consistent. Histologic patterns range from a severe usually nondystrophic disturbance of the myofibrillar pattern to an almost normal pattern, with or without nemaline bodies, sometimes combined with cores (summary by Lehtokari et al., 2014).For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (OMIM ).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism
  • Muscle weakness
  • Cleft palate


SOURCES: OMIM MESH MENDELIAN

More info about NEMALINE MYOPATHY 2; NEM2

NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Hyperlordosis

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Arthrogryposis multiplex congenita Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Edema and Hyperlordosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscular dystrophy Waddling gait Limb muscle weakness Proximal muscle weakness Myopathy Myopathic facies Seizures Muscular hypotonia Skeletal muscle atrophy Polyhydramnios Lumbar hyperlordosis Cardiomyopathy Decreased fetal movement Hyporeflexia High palate Neonatal hypotonia Respiratory insufficiency Facial palsy Motor delay Short stature Spinal rigidity Abnormal facial shape Hypoventilation Cryptorchidism Failure to thrive Intellectual disability Akinesia Elevated serum creatine phosphokinase Hypertension Fetal akinesia sequence Renal insufficiency Low-set ears Respiratory failure Rigidity Talipes equinovarus Dysphagia Ptosis Respiratory distress Respiratory insufficiency due to muscle weakness Pectus excavatum Areflexia Generalized muscle weakness Congestive heart failure Hypertelorism Apnea Cleft palate Hepatomegaly

Rare Symptoms - Less than 30% cases

Cough Malignant hyperthermia Fever Progressive muscle weakness Abnormality of the cerebral white matter Congenital muscular dystrophy Sensorineural hearing impairment Renal dysplasia Frequent falls Nemaline bodies Slender build EMG: neuropathic changes Neck flexor weakness Bulbar palsy Mildly elevated creatine phosphokinase Myotonia Congenital contracture EMG: myopathic abnormalities Foot dorsiflexor weakness Late-onset distal muscle weakness Falls Abnormality of the rib cage Paralysis Feeding difficulties in infancy Retrognathia Pes cavus Hypertonia Feeding difficulties Epicanthus Downslanted palpebral fissures Dilatation Arrhythmia Global developmental delay Respiratory arrest Kyphoscoliosis Type 1 muscle fiber predominance Ascites Hydrops fetalis Dilated cardiomyopathy Growth abnormality Open mouth Gait disturbance Limited elbow extension Long upper lip Hypospadias Hepatosplenomegaly Depressed nasal bridge Hepatic fibrosis Midface retrusion Neoplasm Pain Talipes Abnormality of the kidney Limb-girdle muscular dystrophy Mask-like facies Macroglossia Inability to walk Breech presentation Pterygium Blue irides Nail dystrophy Micropenis Abnormality of the eye Distal muscle weakness Large fontanelles Long philtrum Raynaud phenomenon Dysarthria Highly elevated creatine phosphokinase Absent muscle fiber merosin Abnormal brainstem MRI signal intensity Intercostal muscle weakness Abnormality of the temporomandibular joint Hypointensity of cerebral white matter on MRI Tubulointerstitial nephritis Patellar aplasia Inferior vermis hypoplasia Increased endomysial connective tissue Impaired mastication Pontocerebellar atrophy Diffuse white matter abnormalities Muscle fiber atrophy Adducted thumb Renal cell carcinoma Abnormality of the elbow Paresthesia Microcornea Nephropathy Hematuria Oral cleft Cleft upper lip Mitochondrial depletion Hearing impairment Transient myeloproliferative syndrome Cataract Clinodactyly of the 5th finger Osteoporosis Confusion Glaucoma Pes planus Proteinuria Nail dysplasia Nephrotic syndrome Rocker bottom foot Nephritis Patellar dislocation Multiple joint contractures Pericardial effusion Keratoconus Cystic hygroma Colon cancer Anonychia Hand clenching Recurrent urinary tract infections Glomerulonephritis Multiple pterygia Abnormality of the urinary system Aortic regurgitation Spina bifida Calf muscle pseudohypertrophy Severe hydrops fetalis Cleft lip Disproportionate prominence of the femoral medial condyle Ridged nail Hyperinsulinemia Polysplenia Capillary hemangioma Enlarged kidney Hamartoma Neurodevelopmental delay Global brain atrophy Large for gestational age Nephroblastoma Polycystic kidney dysplasia Thick upper lip vermilion Tented upper lip vermilion Bilateral single transverse palmar creases Tall stature Status epilepticus Cardiomegaly Congenital diaphragmatic hernia Hypoplasia of penis Abnormality of the cardiovascular system Overgrowth Renal neoplasm Volvulus Round face Thymus hyperplasia Distal ileal atresia Ileal atresia Nephrogenic rest Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Abnormality of pancreas morphology Nephroblastomatosis Fetal ascites Hypoxemia Abnormality of upper lip Lumbar scoliosis Pancreatic islet-cell hyperplasia Broad alveolar ridges Intestinal atresia Femoral hernia Interrupted aortic arch Visceromegaly Thickened helices Specific learning disability Abdominal distention Concave nail Hypoplasia of first ribs Triceps aplasia Cerebral edema Quadriceps aplasia Stellate iris Thickening of the lateral border of the scapula Hypoplastic radial head Iliac horns Glenoid fossa hypoplasia Microphakia Absence of pectoralis minor muscle Deep-set nails Antecubital pterygium Absent distal interphalangeal creases Albuminuria Congenital nephrotic syndrome Cervical ribs Microalbuminuria Aplasia/Hypoplasia of the patella Patellar hypoplasia Elongated radius Lester's sign High, narrow palate Prominent forehead Flat face Smooth philtrum Dolichocephaly Abnormality of the pinna Muscular hypotonia of the trunk Hydronephrosis Deeply set eye High forehead Posteriorly rotated ears Biceps aplasia Agenesis of corpus callosum Inguinal hernia Hernia Cerebral atrophy Short nose Anteverted nares Macrocephaly Wide nasal bridge Micrognathia Increased connective tissue Ventricular fibrillation Astrocytosis Ventricular hypertrophy Generalized amyotrophy High pitched voice Increased variability in muscle fiber diameter Gowers sign Nasal speech Poor head control Elbow flexion contracture Pneumonia Neck muscle weakness Limb joint contracture Tubulointerstitial fibrosis Generalized edema Esophageal varix Exertional dyspnea Difficulty climbing stairs Portal hypertension Hip contracture Thoracolumbar scoliosis Exercise intolerance Minicore myopathy Hyperreflexia Cardiac conduction abnormality Abnormality on pulmonary function testing Type 1 and type 2 muscle fiber minicore regions Abnormality of skeletal morphology Limited neck flexion Hamstring contractures Crackles Right ventricular hypertrophy Orthopnea Nocturnal hypoventilation Muscle fiber necrosis Peroneal muscle atrophy Reduced vital capacity Axial muscle weakness Restrictive deficit on pulmonary function testing Cor pulmonale Reduced tendon reflexes Decreased liver function Recurrent respiratory infections Severe short stature Accelerated skeletal maturation Short thumb Osteoarthritis Joint stiffness Arthritis Arthralgia Skeletal dysplasia Delayed skeletal maturation Mild short stature Frontal bossing Brachydactyly Abnormality of the retinal vasculature Abnormal eyelash morphology Palpebral edema EMG abnormality Abnormality of cardiovascular system morphology Back pain Broad hallux Sudden cardiac death Quadriceps muscle atrophy Hepatic failure Cirrhosis Abnormality of the liver Difficulty walking Dyspnea Peripheral neuropathy Abnormality of skeletal physiology Limited elbow flexion Disproportionate short stature Decreased hip abduction Osteochondritis Dissecans Low back pain Abnormality of the knee Abnormality of tibia morphology Exostoses Joint swelling Proportionate short stature Abnormality of the skeletal system Hypertrophic cardiomyopathy Atelectasis Abnormality of metabolism/homeostasis Focal-onset seizure Polymicrogyria Ophthalmoplegia Hip dislocation Intellectual disability, moderate Gastroesophageal reflux Cerebellar hypoplasia Intellectual disability, severe Pulmonary arterial hypertension Ventriculomegaly Cognitive impairment Mixed respiratory and metabolic acidosis Sinus tachycardia Congenital ptosis Diaphragmatic eventration Severe lactic acidosis Bradykinesia Pachygyria Low hanging columella Weak cry Reduced ejection fraction Abnormal cortical gyration Myositis Recurrent lower respiratory tract infections Abnormality of visual evoked potentials Abnormality of the periventricular white matter Protruding tongue Hypokinesia Heterotopia Focal impaired awareness seizure Poor suck Lissencephaly Absence seizures Congenital hip dislocation Aspiration Sensorimotor neuropathy Decreased body weight Hyperphosphatemia Thoracic kyphosis Respiratory tract infection Fetal distress Myalgia Acidosis Hyperhidrosis Malar flattening Kyphosis Strabismus Percussion myotonia Diaphragmatic paralysis Pectus carinatum Facial diplegia Thin ribs Infantile muscular hypotonia Knee flexion contracture Narrow face Joint contracture of the hand Pulmonary hypoplasia Genu valgum Stroke Lactic acidosis Myoglobinuria Ventricular arrhythmia Scaphocephaly Acute kidney injury Rhabdomyolysis Abnormality of the sternum Hyperkalemia Abnormality of the coagulation cascade Deep philtrum Tachypnea Tachycardia Shock Lymphedema Hypotension Webbed neck Abnormal bleeding Muscle cramps Metabolic acidosis Joint hypermobility Prominent xiphoid process


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