Edema, and Waddling gait

Diseases related with Edema and Waddling gait

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


Top matches:

Medium match FAMILIAL OSTEOCHONDRITIS DISSECANS


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

Medium match PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD


Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.

PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD Is also known as progressive pseudorheumatoid arthropathy of childhood|ppd|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|sedt-pa|spondyloepiphyseal dysplasia tarda with progressive arthropathy|progressive pseudorheumatoid dysplasia

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E


Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E Is also known as beta-sarcoglycanopathy|limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency|lgmd2e|muscular dystrophy, limb-girdle, type 2e

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Gait disturbance
  • Dysphagia
  • Respiratory insufficiency


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E

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Other less relevant matches:

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

Medium match RIGID SPINE SYNDROME


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

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

Medium match NEMALINE MYOPATHY 2; NEM2


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

Medium match NEURAMINIDASE DEFICIENCY


Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

Medium match DESBUQUOIS DYSPLASIA 1; DBQD1


Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Medium match MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6


Mucopolysaccharidosis type VI is an autosomal recessive lysosomal storage disorder resulting from a deficiency of arylsulfatase B. Clinical features and severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities, and facial dysmorphism. Intelligence is usually normal (Azevedo et al., 2004).

MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6 Is also known as maroteaux-lamy syndrome|mps vi|n-acetylgalactosamine-4-sulfatase deficiency|arsb deficiency|arylsulfatase b deficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VI; MPS6

Top 5 symptoms//phenotypes associated to Edema and Waddling gait

Symptoms // Phenotype % cases
Flexion contracture Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hyperlordosis

Uncommon Symptoms - Between 30% and 50% cases


Cardiomyopathy Myopathy Proximal muscle weakness Limb muscle weakness Respiratory insufficiency Hyporeflexia Kyphosis Motor delay Apnea Muscular dystrophy Arthrogryposis multiplex congenita Myopathic facies Hepatomegaly Skeletal dysplasia Joint stiffness Muscular hypotonia Failure to thrive Generalized muscle weakness Metaphyseal widening Spinal rigidity High palate Osteoporosis Depressed nasal bridge Akinesia Hydrops fetalis Respiratory distress Facial palsy Decreased fetal movement Difficulty walking Falls Fetal akinesia sequence Talipes equinovarus Gait disturbance Congestive heart failure Skeletal muscle atrophy Intellectual disability Dilated cardiomyopathy Osteoarthritis Polyhydramnios Hepatosplenomegaly Respiratory failure Arthritis Abnormal facial shape Severe short stature Dysphagia Neonatal hypotonia

Rare Symptoms - Less than 30% cases


Global developmental delay Peripheral neuropathy Dyspnea Ascites Hypertension Abnormality of the skeletal system Rigidity Slender build Glaucoma Macrocephaly Dysostosis multiplex Thoracic kyphosis Corneal opacity Coarse facial features Osteopenia Inguinal hernia Hernia Splenomegaly Hearing impairment Cystic hygroma Late-onset distal muscle weakness Neck flexor weakness Type 1 muscle fiber predominance Cough Genu valgum Hypoventilation Abnormality of the rib cage Feeding difficulties Hyperreflexia Axial muscle weakness Areflexia Frequent falls Nemaline bodies Foot dorsiflexor weakness Respiratory insufficiency due to muscle weakness Congenital contracture Mildly elevated creatine phosphokinase Bulbar palsy EMG: neuropathic changes Calf muscle pseudohypertrophy EMG: myopathic abnormalities Accelerated skeletal maturation Limb-girdle muscular dystrophy Genu varum Flattened epiphysis Kyphoscoliosis Coxa vara Pain Hypertrophic cardiomyopathy Distal muscle weakness Macroglossia Midface retrusion Abnormality of the knee Gowers sign Lumbar hyperlordosis Increased variability in muscle fiber diameter Joint swelling Brachydactyly Platyspondyly Arthralgia Malar flattening Joint laxity Pes planus High forehead Proptosis Obesity Narrow mouth Immunodeficiency Dilatation Clinodactyly Abnormality of the kidney Short distal phalanx of finger Postnatal growth retardation Nail dysplasia Horseshoe kidney Rhizomelia Broad thumb Bowing of the long bones Depressed nasal ridge Wide intermamillary distance Short metacarpal Narrow chest Round face Abdominal distention Renal cyst Flat face Micromelia Smooth philtrum Short nose Myopia Short neck Dysmetria Laryngomalacia Choreoathetosis Cardiomegaly Progressive visual loss Progressive cerebellar ataxia Neurodegeneration Abnormality of movement Hyperactive deep tendon reflexes Delayed skeletal maturation Pectus carinatum Mental deterioration Abnormality of the nervous system Proteinuria Myoclonus Dementia Slurred speech Epiphyseal stippling Anteverted nares Increased urinary O-linked sialopeptides Intrauterine growth retardation Joint dislocation Epicanthus Micrognathia Growth delay Urinary excretion of sialylated oligosaccharides Bone-marrow foam cells Syringomyelia Cherry red spot of the macula Facial edema Vacuolated lymphocytes Foam cells Frontal bossing Barrel-shaped chest Hand tremor Coxa valga Achilles tendon contracture Microretrognathia Aortic valve stenosis Metaphyseal irregularity Epiphyseal dysplasia Recurrent upper respiratory tract infections Sleep apnea Spastic tetraparesis Opacification of the corneal stroma Thickened skin Spinal canal stenosis Decreased body weight Split hand Progressive neurologic deterioration Tetraparesis Spastic tetraplegia Hip dysplasia Tetraplegia Abnormal heart valve morphology Aseptic necrosis Dolichocephaly Retinal fold Anterior wedging of L1 Hypoplastic acetabulae Dermatan sulfate excretion in urine Cervical cord compression Cervical instability Cervical myelopathy Prominent sternum Myelopathy Hypoplasia of the odontoid process Constrictive median neuropathy Flared iliac wings Broad ribs Disproportionate short-trunk short stature Ovoid vertebral bodies Hypoplastic iliac wing Obstructive sleep apnea Hirsutism Retinopathy Sandal gap Flat acetabular roof Open angle glaucoma Broad femoral neck Coronal cleft vertebrae Generalized osteoporosis Short 1st metacarpal Generalized joint laxity Irregular vertebral endplates Vertebral clefting Protuberant abdomen Congenital glaucoma Thoracic hypoplasia Short femoral neck Short thumb Short metatarsal Disproportionate short-limb short stature Hypoplastic vertebral bodies Long upper lip Umbilical hernia Proximal fibular overgrowth Hypothyroidism Intellectual disability, severe Hydrocephalus Splayed fingers Medial deviation of the foot Radioulnar dislocation Broad first metatarsal Multiple carpal ossification centers Advanced ossification of carpal bones Supernumerary metacarpal bones Phalangeal dislocation Partial duplication of the distal phalanx of the hallux Advanced tarsal ossification Bifid distal phalanx of the thumb Large joint dislocations Multiple joint dislocation Abnormality of the hand Sensorineural hearing impairment Visual loss Rheumatoid arthritis Congenital muscular dystrophy Nasal speech Poor head control Elbow flexion contracture Progressive muscle weakness Ventricular hypertrophy Abnormality of the cerebral white matter Generalized amyotrophy Spondyloepiphyseal dysplasia Arthropathy Juvenile rheumatoid arthritis Synovitis Methylmalonic acidemia Pneumonia High pitched voice Hip contracture Enlarged epiphyses Peroneal muscle atrophy Hamstring contractures Minicore myopathy Crackles Orthopnea Nocturnal hypoventilation Muscle fiber necrosis Reduced vital capacity Neck muscle weakness Respiratory arrest Restrictive deficit on pulmonary function testing Cor pulmonale Right ventricular hypertrophy Thoracolumbar scoliosis Malignant hyperthermia Short long bone Fever Sclerotic vertebral endplates Abnormality of skeletal morphology Scapular winging Arrhythmia Elevated serum creatine phosphokinase Abnormality of the liver Myalgia Palpitations Broad-based gait Calf muscle hypertrophy Hepatic failure Myoglobinuria Proximal amyotrophy Reduced muscle fiber beta sarcoglycan Pelvic girdle muscle atrophy Limb-girdle muscle weakness Tip-toe gait Shoulder girdle muscle atrophy Cirrhosis Delayed speech and language development Decreased cervical spine mobility Difficulty climbing stairs Limb joint contracture Tubulointerstitial fibrosis Generalized edema Esophageal varix Enlarged interphalangeal joints Exertional dyspnea Enlargement of the proximal femoral epiphysis Sudden cardiac death Portal hypertension Reduced tendon reflexes Exercise intolerance Decreased liver function Hepatic fibrosis Morbus Scheuermann Enlarged metacarpophalangeal joints Limited neck flexion Type 1 and type 2 muscle fiber minicore regions Growth abnormality Micropenis Pterygium Adducted thumb Large fontanelles Inability to walk Talipes Abnormality of the eye Hypospadias Multiple joint contractures Long philtrum Downslanted palpebral fissures Dysarthria Low-set ears Cryptorchidism Cleft palate Hypertelorism Rocker bottom foot Pericardial effusion Percussion myotonia Ataxia Blindness Tremor Visual impairment Cataract Pelvic girdle muscle weakness Nystagmus Back pain Broad hallux Seizures Mild short stature Mitochondrial depletion Transient myeloproliferative syndrome Severe hydrops fetalis Multiple pterygia Hand clenching Limited elbow extension Fetal distress Abnormality on pulmonary function testing Pes cavus Pulmonary hypoplasia Camptodactyly Paralysis Respiratory tract infection Feeding difficulties in infancy Retrognathia Recurrent respiratory infections Joint contracture of the hand Camptodactyly of finger Pectus excavatum Hypertonia Abnormality of the foot Interphalangeal joint contracture of finger Abnormal form of the vertebral bodies Cardiac conduction abnormality Abnormality of skeletal physiology Narrow face Diaphragmatic paralysis Thin ribs Disproportionate short stature Proportionate short stature Breech presentation Exostoses Facial diplegia Abnormality of tibia morphology Low back pain Quadriceps muscle atrophy Mask-like facies Myotonia Osteochondritis Dissecans Decreased hip abduction Infantile muscular hypotonia Limited elbow flexion Knee flexion contracture Anterior wedging of L2



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