Flexion contracture, and Nausea and vomiting

Diseases related with Flexion contracture and Nausea and vomiting

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

Top matches:

Limited cutaneous systemic sclerosis (lcSSc) is a subtype of systemic sclerosis (SSc; see this term) characterized by the association of Raynaud's phenomenon with skin fibrosis limited to the hands, face, feet and forearms.

LIMITED CUTANEOUS SYSTEMIC SCLEROSIS Is also known as limited cutaneous systemic scleroderma

Related symptoms:

  • Dysphagia
  • Gastroesophageal reflux
  • Autoimmunity
  • Nausea and vomiting
  • Abnormality of skin pigmentation


SOURCES: ORPHANET MENDELIAN

More info about LIMITED CUTANEOUS SYSTEMIC SCLEROSIS

Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2 Is also known as cmt2a2|hmsn2a2|hereditary motor and sensory neuropathy iia2|charcot-marie-tooth disease, neuronal, type 2a2|hmsn iia2|charcot-marie-tooth disease, axonal, type 2a2|charcot-marie-tooth neuropathy, type 2a2

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2

Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). Genetic Heterogeneity of Episodic AtaxiaEpisodic ataxia is a genetically heterogeneous disorder. See also EA2 (OMIM ), caused by mutation in the CACNA1A gene (OMIM ) on chromosome 19p13; EA3 (OMIM ), which maps to chromosome 1q42; EA4 (OMIM ); EA5, caused by mutation in the CACNB4 gene (OMIM ) on chromosome 2q22-q23; EA6 (OMIM ), caused by mutation in the SLC1A3 gene (OMIM ) on chromosome 5p13; EA7 (OMIM ), which maps to chromosome 19q13; and EA8 (OMIM ), which maps to chromosome 1p36-p34.Isolated myokymia-2 (see {121200}) is associated with mutation in the KCNQ2 gene (OMIM ).

EPISODIC ATAXIA, TYPE 1; EA1 Is also known as ataxia, episodic, with myokymia|paroxysmal ataxia with neuromyotonia, hereditary|eam|episodic ataxia with myokymia|aemk|aem|myokymia with periodic ataxia

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 1; EA1

Other less relevant matches:

Multiple mitochondrial dysfunctions syndrome-2 (MMDS2) with hyperglycinemia is a severe autosomal recessive disorder characterized by developmental regression in infancy. Affected children have an encephalopathic disease course with seizures, spasticity, loss of head control, and abnormal movement. Additional more variable features include optic atrophy, cardiomyopathy, and leukodystrophy. Laboratory studies show increased serum glycine and lactate. Most patients die in childhood. The disorder represents a form of 'variant' nonketotic hyperglycinemia and is distinct from classic nonketotic hyperglycinemia (NKH, or GCE; {605899}), which is characterized by significantly increased CSF glycine. Several forms of 'variant' NKH, including MMDS2, appear to result from defects of mitochondrial lipoate biosynthesis (summary by Baker et al., 2014).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA; MMDS2

Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Glycogen storage disease VII is an autosomal recessive metabolic disorder characterized clinically by exercise intolerance, muscle cramping, exertional myopathy, and compensated hemolysis. Myoglobinuria may also occur. The deficiency of the muscle isoform of PFK results in a total and partial loss of muscle and red cell PFK activity, respectively. Raben and Sherman (1995) noted that not all patients with GSD VII seek medical care because in some cases it is a relatively mild disorder.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM Is also known as gsd due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form|glycogenosis type iv, fatal perinatal neuromuscular form|tarui disease|glycogenosis type 4, fatal perinatal neuromuscular form|gsd vii|gbe deficiency, fatal perinatal neur

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, FATAL PERINATAL NEUROMUSCULAR FORM

Autosomal recessive hypomyelinating leukodystrophy-3 (HLD3) is a severe neurologic disorder characterized by early infantile onset of global developmental delay, lack of development, lack of speech acquisition, and peripheral spasticity associated with decreased myelination in the central nervous system (summary by Feinstein et al., 2010).The disorder is phenotypically similar to X-linked Pelizaeus-Merzbacher disease (PMD ), which is caused by mutation in the PLP1 gene (OMIM ). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PELIZAEUS-MERZBACHER-LIKE DISEASE DUE TO AIMP1 MUTATION

Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.

JUNCTIONAL EPIDERMOLYSIS BULLOSA-PYLORIC ATRESIA SYNDROME Is also known as aplasia cutis congenita with gastrointestinal atresia|epidermolysis bullosa, junctional, with pyloric atresia|epidermolysis bullosa, junctional, with pyloric atresia and aplasia cutis congenita|eb-pa-acc|carmi syndrome|jeb-pa|junctional epidermolysis bull

Related symptoms:

  • Diarrhea
  • Polyhydramnios
  • Hydronephrosis
  • Nail dystrophy
  • Arthrogryposis multiplex congenita


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JUNCTIONAL EPIDERMOLYSIS BULLOSA-PYLORIC ATRESIA SYNDROME

Diffuse cutaneous systemic sclerosis (dcSSc) is a subtype of Systemic Sclerosis (SSc; see this term) characterized by truncal and acral skin fibrosis with an early and significant incidence of diffuse involvement (interstitial lung disease, oliguric renal failure, diffuse gastrointestinal disease, and myocardial involvement).

DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS Is also known as progressive cutaneous systemic scleroderma|diffuse cutaneous systemic scleroderma|progressive cutaneous systemic sclerosis

Related symptoms:

  • Muscle weakness
  • Pain
  • Flexion contracture
  • Hypertension
  • Dysphagia


SOURCES: ORPHANET MENDELIAN

More info about DIFFUSE CUTANEOUS SYSTEMIC SCLEROSIS

LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Top 5 symptoms//phenotypes associated to Flexion contracture and Nausea and vomiting

Symptoms // Phenotype % cases
Vomiting Common - Between 50% and 80% cases
Pain Uncommon - Between 30% and 50% cases
Arthritis Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Nausea and vomiting. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Myoclonus Rigidity Nausea Hypertonia Hyperreflexia Scoliosis Dysphagia Spastic gait Diarrhea Global developmental delay Generalized hypotonia

Rare Symptoms - Less than 30% cases

Choreoathetosis Absent speech Anemia Gastroesophageal reflux Abnormality of extrapyramidal motor function Scleroderma Malnutrition Ataxia Dysarthria Elevated serum creatine phosphokinase Respiratory failure Cardiomyopathy Dystonia Visual impairment Kyphoscoliosis Postural instability Muscle cramps Renal insufficiency Hematuria Short stature Malabsorption Nail dystrophy Chorea Cerebral palsy Leukodystrophy Narrow foramen obturatorium Babinski sign Telangiectasia of the skin Nystagmus Abnormal pyramidal sign Pulmonary fibrosis Encephalopathy Intellectual disability Skin ulcer Gout Limb muscle weakness Tremor Pulmonary arterial hypertension Abnormality of the skin Optic atrophy Autoimmunity Arthrogryposis multiplex congenita Severe global developmental delay Nail dysplasia Muscular hypotonia of the trunk Renal dysplasia Abnormal blistering of the skin Spastic tetraparesis Hypoplasia of dental enamel Abnormality of the genitourinary system Recurrent skin infections Pterygium EEG abnormality Ectropion Anonychia Coarse facial features Milia Atrophic scars Fragile skin Pyloric stenosis Brain atrophy Polymicrogyria Rapid neurologic deterioration Paraparesis CNS hypomyelination Global brain atrophy Decreased muscle mass Ankle clonus Severe failure to thrive Clonus Progressive neurologic deterioration Rotary nystagmus Progressive spastic paraparesis Progressive flexion contractures Projectile vomiting Gliosis Sudanophilic leukodystrophy Tetraparesis Hypsarrhythmia Neuronal loss in central nervous system Diffuse cerebral sclerosis Focal-onset seizure Polyhydramnios Hydronephrosis Confusion Premature birth Spastic paraparesis Abdominal distention Corpus callosum atrophy Hypertension Aplasia cutis congenita Self-injurious behavior Behavioral abnormality Intellectual disability, mild Clinodactyly Clinodactyly of the 5th finger Aggressive behavior Irritability Hip dislocation Nephropathy Clumsiness Recurrent urinary tract infections Nephrolithiasis Stereotypy Finger clinodactyly Oral-pharyngeal dysphagia Delayed speech and language development Proximal placement of thumb Athetosis Opisthotonus Hyperuricemia Self-mutilation Megaloblastic anemia Dyslexia Focal dystonia Testicular atrophy Facial grimacing Hyperuricosuria Excessive purine production Bladder stones Motor delay Muscular hypotonia Esophageal atresia Junctional split Intestinal atresia Oral mucosal blisters Renal duplication Ureterocele Intractable diarrhea Urethral stricture Axillary pterygium Elevated amniotic fluid alpha-fetoprotein Congenital localized absence of skin Aplasia of the bladder Congenital pyloric atresia Urinary bladder inflammation Elevated maternal serum alpha-fetoprotein Congestive heart failure Abnormal bowel sounds Constipation Weight loss Dyspnea Arthralgia Carious teeth Telangiectasia Osteolysis Xerostomia Pulmonary infiltrates Osteolytic defects of the phalanges of the hand Oliguria Dyspareunia Decreased urine output Hypertensive crisis Cerebral atrophy Intestinal polyp Failure to thrive Esotropia Difficulty running Degeneration of anterior horn cells Decreased number of large peripheral myelinated nerve fibers Motor polyneuropathy Axonal degeneration/regeneration Peripheral axonal atrophy Headache Unsteady gait Vertigo Inability to walk Progressive cerebellar ataxia Cyanosis Decreased number of peripheral myelinated nerve fibers Fasciculations Muscle stiffness Hyperkinesis Slurred speech Incoordination Abnormality of the hand Postural tremor Blurred vision Muscle fibrillation Cerebellar vermis atrophy Hypomagnesemia Episodic ataxia Onion bulb formation Difficulty climbing stairs Myokymia Hyporeflexia Abnormality of skin pigmentation Joint contracture of the hand Hypopigmented skin patches Raynaud phenomenon Mucosal telangiectasiae Contractures involving the joints of the feet Hearing impairment Sensorineural hearing impairment Cognitive impairment Peripheral neuropathy Areflexia Pes cavus Decreased motor nerve conduction velocity Mental deterioration Distal muscle weakness Abnormality of the foot Lower limb muscle weakness Distal amyotrophy Distal sensory impairment Polyneuropathy Sensorimotor neuropathy Foot dorsiflexor weakness Abnormal autonomic nervous system physiology Hammertoe Steppage gait Tetany Facial myokymia Microcephaly Exercise intolerance Mucopolysacchariduria Stiff neck Peripheral edema Fatigue Blindness Myopathy Jaundice Myalgia Corneal opacity Hemolytic anemia Cerebral visual impairment Easy fatigability Thoracolumbar scoliosis Cholelithiasis Polycythemia Reticulocytosis Myoglobinuria Nonspherocytic hemolytic anemia Dark urine Increased total bilirubin Gastric ulcer Exercise-induced muscle cramps Exercise-induced myoglobinuria Increased muscle glycogen content Reduced erythrocyte 2,3-diphosphoglycerate concentration Protein-losing enteropathy Thoracic kyphosis Hepatomegaly Brachydactyly Respiratory distress Hypertrophic cardiomyopathy Developmental regression Dilated cardiomyopathy Lethargy Lactic acidosis Epileptic encephalopathy Poor head control Hyperglycinemia Decreased activity of mitochondrial respiratory chain Decreased activity of the pyruvate dehydrogenase complex Nonketotic hyperglycinemia Short neck Rheumatoid arthritis Edema Kyphosis Alopecia Severe short stature Abdominal pain Hypothyroidism Platyspondyly Genu valgum Bowing of the long bones Chronic diarrhea Abnormal intestine morphology Cachexia Podagra


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