Edema, and Facial palsy

Diseases related with Edema and Facial palsy

In the following list you will find some of the most common rare diseases related to Edema and Facial palsy 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

Severe congenital nemaline myopathy is a severe form of nemaline myopathy (NM; see this term) characterized by severe hypotonia with little spontaneous movement in neonates.

Related symptoms:

  • Low-set ears
  • Flexion contracture
  • Motor delay
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about SEVERE CONGENITAL NEMALINE MYOPATHY

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

Other less relevant matches:

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

Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Low match BLAU SYNDROME

Blau syndrome (BS) is a rare systemic inflammatory disease characterized by early onset granulomatous arthritis, uveitis and skin rash. BS now refers to both the familial and sporadic (formerly early-onset sarcoidosis) form of the same disease. The proposed term pediatric granulomatous arthritis is currently questioned since it fails to represent the systemic nature of the disease.

Related symptoms:

  • Cataract
  • Anemia
  • Hypertension
  • Fever
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about BLAU SYNDROME

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

Malignant mesothelioma is a fatal asbestos-associated malignancy arising in the lining cells (mesothelium) of the pleural and peritoneal cavities, as well as in the pericardium and the tunica vaginalis.

Related symptoms:

  • Neoplasm
  • Pain
  • Anemia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about PLEURAL MESOTHELIOMA

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

Low match MELORHEOSTOSIS

Melorheostosis is a rare connective tissue disorder characterized by a sclerosing bone dysplasia, usually limited to one side of the body (rarely bilateral), that manifests with pain, stiffness, joint contractures and deformities.

MELORHEOSTOSIS Is also known as mel

Related symptoms:

  • Failure to thrive
  • Pain
  • Flexion contracture
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MELORHEOSTOSIS

Top 5 symptoms//phenotypes associated to Edema and Facial palsy

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Respiratory failure Common - Between 50% and 80% cases
Dysphagia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Neonatal hypotonia Decreased fetal movement Muscle weakness Generalized hypotonia Polyhydramnios Respiratory insufficiency Arthrogryposis multiplex congenita Scoliosis Myopathy Muscular dystrophy Hyperlordosis Respiratory distress Failure to thrive Muscular hypotonia High palate Hypertension Fever Hyporeflexia Areflexia Proximal muscle weakness Apnea Cough Pain Generalized muscle weakness Waddling gait Progressive muscle weakness Spinal rigidity Hypoventilation Myopathic facies Respiratory insufficiency due to muscle weakness Feeding difficulties in infancy Limb muscle weakness Cardiomyopathy Type 1 muscle fiber predominance Nemaline bodies Dilatation Congenital contracture Akinesia Thin ribs Facial diplegia Fetal akinesia sequence

Rare Symptoms - Less than 30% cases

Seizures Arthralgia Arrhythmia Congenital muscular dystrophy Inability to walk Neck flexor weakness Slender build Pterygium EMG: neuropathic changes Bulbar palsy Intellectual disability, severe Mildly elevated creatine phosphokinase Dyspnea Lymphadenopathy Dilated cardiomyopathy Abnormality of the skeletal system Abnormality of the rib cage Myotonia Anemia EMG: myopathic abnormalities Axial muscle weakness Feeding difficulties Foot dorsiflexor weakness Paralysis Hydrops fetalis Increased connective tissue Percussion myotonia Pulmonary arterial hypertension Ophthalmoplegia Breech presentation Hypokinesia Abnormality of the thorax Adducted thumb Cognitive impairment Hepatomegaly Large fontanelles Premature birth Pulmonary hypoplasia Congestive heart failure Intellectual disability Rigidity Micropenis Hypospadias Low-set ears Talipes Multiple pterygia Joint swelling Abnormality of the cerebral white matter Falls Cataract Late-onset distal muscle weakness Frequent falls Astrocytosis Cerebral edema Muscle fiber atrophy Abnormality of the temporomandibular joint Diffuse white matter abnormalities Pontocerebellar atrophy Impaired mastication Absent muscle fiber merosin Increased endomysial connective tissue Inferior vermis hypoplasia Hypointensity of cerebral white matter on MRI Abnormal brainstem MRI signal intensity Intercostal muscle weakness Micrognathia Polymicrogyria Atelectasis Elevated serum creatine phosphokinase Macroglossia Neoplasm Hip dislocation Intellectual disability, moderate Kyphoscoliosis Gastroesophageal reflux Cerebellar hypoplasia Abnormality of metabolism/homeostasis Bradykinesia Ventriculomegaly Gait disturbance Abnormal inflammatory response Retrobulbar optic neuritis Large vessel vasculitis Clear cell renal cell carcinoma Polyarticular arthritis Abnormal choroid morphology Focal-onset seizure Open mouth Reduced ejection fraction Limb-girdle muscular dystrophy Abnormal cortical gyration Myositis Recurrent lower respiratory tract infections Abnormality of visual evoked potentials Abnormality of the periventricular white matter Protruding tongue Weak cry Focal impaired awareness seizure Pachygyria Poor suck Lissencephaly Absence seizures Congenital hip dislocation Aspiration Sensorimotor neuropathy Decreased body weight Heterotopia Highly elevated creatine phosphokinase Pleural mesothelioma Vomiting Cranial nerve paralysis Hand clenching Calf muscle pseudohypertrophy Severe hydrops fetalis Transient myeloproliferative syndrome Mitochondrial depletion Skeletal dysplasia Arthritis Joint stiffness Abnormality of the foot Nevus Lymphedema Bone pain Increased bone mineral density Hemangioma Pericardial effusion Growth abnormality Dermal atrophy Hyperostosis Scleroderma Abnormality of the vasculature Atypical scarring of skin Lower limb asymmetry Lack of skin elasticity Prominent superficial veins Chronic pain Upper limb asymmetry Peripheral arteriovenous fistula Subcutaneous calcification Osteopoikilosis Cystic hygroma Multiple joint contractures Diarrhea Fourth cranial nerve palsy Abdominal pain Weight loss Nausea Ascites Chest pain Hypotension Abnormal lung morphology Pleural effusion Oral-pharyngeal dysphagia Intestinal obstruction Night sweats Abnormality of the pleura Abnormality of cardiovascular system physiology Functional respiratory abnormality Constitutional symptom Rocker bottom foot Malignant mesothelioma Obstruction of the superior vena cava Iridocyclitis Peritoneal mesothelioma Pericardial mesothelioma Hypertelorism Cleft palate Cryptorchidism Dysarthria Downslanted palpebral fissures Talipes equinovarus Long philtrum Abnormality of the eye Distal muscle weakness Abnormal salivary gland morphology Ventricular tachycardia Posterior uveitis Hyperreflexia Peroneal muscle atrophy Muscle fiber necrosis Nocturnal hypoventilation Orthopnea Crackles Minicore myopathy Hamstring contractures Limited neck flexion Abnormality of skeletal morphology Type 1 and type 2 muscle fiber minicore regions Abnormality on pulmonary function testing Cardiac conduction abnormality Hypertonia Respiratory arrest Pectus excavatum Recurrent respiratory infections Pes cavus Retrognathia Hypertrophic cardiomyopathy Respiratory tract infection Genu valgum Joint contracture of the hand Narrow face Knee flexion contracture Infantile muscular hypotonia Mask-like facies Diaphragmatic paralysis Reduced vital capacity Restrictive deficit on pulmonary function testing Ptosis Short stature Myopia Ventricular septal defect Hydronephrosis High myopia Vitreoretinopathy Limb joint contracture Degenerative vitreoretinopathy Severe muscular hypotonia Multiple prenatal fractures Abnormality of the diaphragm Edema of the dorsum of hands Global developmental delay Pneumonia Cor pulmonale Ventricular hypertrophy Elbow flexion contracture Poor head control Nasal speech Gowers sign Increased variability in muscle fiber diameter High pitched voice Generalized amyotrophy Hip contracture Neck muscle weakness Malignant hyperthermia Thoracolumbar scoliosis Right ventricular hypertrophy Fetal distress Delayed speech and language development Erythema nodosum Dry skin Obsessive-compulsive trait Ring fibers Splenomegaly Visual loss Glaucoma Photophobia Erythema Abnormality of the liver Retinopathy Camptodactyly of finger Skin rash Papule Ichthyosis Excessive daytime sleepiness Stage 5 chronic kidney disease Nephropathy Limitation of joint mobility Hyperpigmentation of the skin Skin ulcer Aortic aneurysm Keratitis Pericarditis Xerostomia Abnormal cranial nerve morphology Abnormality of the optic nerve Abnormality of the retinal vasculature Synovitis Narcolepsy Frontal balding Peripheral neuropathy Atrial fibrillation Cerebral atrophy Dementia Hypogonadism Cerebral cortical atrophy Myalgia Mental deterioration Stroke Lower limb muscle weakness Unsteady gait Tachycardia Sensory neuropathy Brain atrophy Mitral valve prolapse Insulin resistance First degree atrioventricular block Cardiac arrest Spontaneous abortion Intellectual disability, progressive Atrioventricular block Cholelithiasis Alzheimer disease Centrally nucleated skeletal muscle fibers Neurofibrillary tangles Abnormal EKG Heart block Nonimmune hydrops fetalis Atrial flutter Testicular atrophy Ectopic ossification in muscle tissue


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