Flexion contracture, and Atopic dermatitis

Diseases related with Flexion contracture and Atopic dermatitis

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

Top matches:

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

Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Related symptoms:

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

Other less relevant matches:

Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1 Is also known as as1|asrt1

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 1

Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 Is also known as asrt2

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2

Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 Is also known as asrt5

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5

Asthma-related traits include clinical symptoms of asthma, such as coughing, wheezing, and dyspnea; bronchial hyperresponsiveness (BHR) as assessed by methacholine challenge test; serum IgE levels; atopy; and atopic dermatitis (Laitinen et al., 2001; Illig and Wjst, 2002; Pillai et al., 2006).For a general phenotypic description and a discussion of genetic heterogeneity of asthma, see {600807}.

Related symptoms:

  • Dyspnea
  • Cough
  • Asthma
  • Inflammatory abnormality of the skin
  • Wheezing


SOURCES: OMIM MENDELIAN

More info about ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 7; ASRT7

Low match MELAS

MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Hyper-IgE recurrent infection syndrome is a primary immunodeficiency disorder characterized by chronic eczema, recurrent Staphylococcal infections, increased serum IgE, and eosinophilia. Patients have a distinctive coarse facial appearance, abnormal dentition, hyperextensibility of the joints, and bone fractures (Buckley et al., 1972; Grimbacher et al., 1999).

HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT Is also known as hies, autosomal dominant|hyper-ige syndrome, autosomal dominant|job syndrome

Related symptoms:

  • Scoliosis
  • Hypertelorism
  • Strabismus
  • High palate
  • Wide nasal bridge


SOURCES: OMIM MENDELIAN

More info about HYPER-IGE RECURRENT INFECTION SYNDROME, AUTOSOMAL DOMINANT

Related symptoms:

  • Fever
  • Hyperkeratosis
  • Arthralgia
  • Arthritis
  • Ichthyosis


SOURCES: OMIM MENDELIAN

More info about PSORIASIS 2; PSORS2

Top 5 symptoms//phenotypes associated to Flexion contracture and Atopic dermatitis

Symptoms // Phenotype % cases
Inflammatory abnormality of the skin Very Common - Between 80% and 100% cases
Asthma Common - Between 50% and 80% cases
Dyspnea Uncommon - Between 30% and 50% cases
Cough Uncommon - Between 30% and 50% cases
Wheezing Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Flexion contracture and Atopic dermatitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Ichthyosis Erythema Arthritis Abnormality of the dentition

Rare Symptoms - Less than 30% cases

Muscle weakness Dysphagia Skeletal muscle atrophy Hyperkeratosis Fever Abnormality of the skeletal system Pruritus Persistence of primary teeth Osteoporosis Hypertelorism Overlapping toe Arthrogryposis multiplex congenita Constipation Short stature Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Neonatal hypoglycemia Facial diplegia Cardiorespiratory arrest Mitochondrial myopathy Vitiligo Delusions Transient ischemic attack Heart block Hypoparathyroidism Posterior subcapsular cataract Visual hallucinations Progressive external ophthalmoplegia Xerostomia Stroke-like episode Increased CSF lactate Ileus Leber optic atrophy Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Episodic vomiting Abnormality of the renal tubule Hemianopia Proximal tubulopathy Wolff-Parkinson-White syndrome Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Hashimoto thyroiditis Anterior hypopituitarism Gait imbalance Reduced consciousness/confusion Cerebral ischemia Abnormality of visual evoked potentials Basal ganglia calcification Drowsiness Decreased nerve conduction velocity Intestinal obstruction Personality changes Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Hemiplegia Bilateral ptosis Hypercalciuria Cachexia Bifid scrotum Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Schizophrenia Mutism Hypopigmented skin patches Ischemic stroke Aplasia/Hypoplasia of the cerebellum Mask-like facies Distal arthrogryposis Vertebral fusion Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Gastroparesis Glomerulopathy Progressive sensorineural hearing impairment Multiple lipomas Hemiplegia/hemiparesis Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Aphasia Bundle branch block Adrenal insufficiency Abnormality of neuronal migration Focal segmental glomerulosclerosis Spontaneous hematomas Abnormal macular morphology Amaurosis fugax Bronchitis Red hair Increased IgE level Recurrent sinopulmonary infections Verrucae Hemihypertrophy Chronic mucocutaneous candidiasis Recurrent bronchitis Recurrent sinusitis Squamous cell carcinoma B lymphocytopenia Chronic otitis media Urticaria Recurrent skin infections Eosinophilia Recurrent bacterial infections Hemivertebrae Skin ulcer Sinusitis Thick lower lip vermilion Decrease in T cell count Fractures of the long bones Otitis media Squamous cell carcinoma of the vulva Orthokeratosis Parakeratosis Rheumatoid arthritis Psoriasiform dermatitis Scaling skin Dermal atrophy Epidermal acanthosis Arthralgia Impaired neutrophil chemotaxis Anal canal squamous carcinoma Recurrent fungal infections Lung abscess Opportunistic infection Recurrent candida infections Recurrent Staphylococcus aureus infections Severe viral infections Onychomycosis Recurrent bacterial skin infections Eczematoid dermatitis T-cell lymphoma Eczema Prominent nose Auditory hallucinations Abnormal mitochondrial morphology Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Paronychia Bilateral intracranial calcifications Spotty hypopigmentation Reduced tendon reflexes Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Episodic quadriplegia Morphological abnormality of the vestibule of the inner ear Lymphoma Mandibular prognathia Recurrent fractures Wide nose Joint hypermobility Facial asymmetry Skin rash Craniosynostosis Deeply set eye Coarse facial features Osteopenia Prominent forehead Morphological abnormality of the inner ear Pneumonia Recurrent infections Immunodeficiency Frontal bossing Wide nasal bridge High palate Strabismus Scoliosis Prominent ear helix Ragged-red muscle fibers Clonus External ophthalmoplegia Dysarthria Respiratory distress Short neck Respiratory insufficiency Ventriculomegaly Fatigue Gait disturbance Tremor Optic atrophy Hyperreflexia Blindness Hepatomegaly Peripheral neuropathy Hypertension Motor delay Visual impairment Feeding difficulties Anemia Cognitive impairment Ptosis Cardiomyopathy Myopathy Pain Encephalopathy Dementia Rod-cone dystrophy Cerebellar hypoplasia Delayed skeletal maturation Elevated serum creatine phosphokinase Hyporeflexia Areflexia Arrhythmia Visual loss Depressivity Cerebellar atrophy Cerebral atrophy Headache Renal insufficiency Kyphosis Dystonia Hypertonia Congestive heart failure Diarrhea Vomiting Cataract Muscular hypotonia Hypogonadism Abnormal facial shape Pectus excavatum Calcification of the aorta Pulmonary edema Aortic valve stenosis Mitral regurgitation Dry skin Glaucoma Edema Generalized hypotonia Scarring Decreased hip abduction Aseptic necrosis Multiple joint contractures Pyloric stenosis Joint contracture of the hand Full cheeks Pulmonic stenosis Camptodactyly Atrial septal defect Alopecia Papule Sensorineural hearing impairment Abnormal perifollicular morphology Failure to thrive Nystagmus Growth delay Ataxia Microcephaly Hearing impairment Global developmental delay Seizures Intellectual disability Sunken cheeks Hypotrichosis Comedo Folliculitis Follicular hyperkeratosis Abnormal eyebrow morphology Absent eyelashes Aplasia/Hypoplasia of the skin Epiphora Spinal muscular atrophy Sparse eyebrow Myoclonus Diabetes mellitus Pancreatitis Amenorrhea Pulmonary arterial hypertension Type II diabetes mellitus Nephrotic syndrome Bilateral sensorineural hearing impairment Generalized-onset seizure Abnormality of the cardiovascular system Pigmentary retinopathy Cerebral calcification Specific learning disability Psychosis Hip dysplasia Memory impairment Increased serum lactate Migraine Sensory impairment Sudden cardiac death Generalized myoclonic seizures Abnormal cerebellum morphology Muscle cramps Status epilepticus Ventricular hypertrophy Coma Ventricular septal defect Macular degeneration Purpura Exercise intolerance Type I diabetes mellitus Hypogonadotrophic hypogonadism Generalized hirsutism EMG abnormality Truncal ataxia Cardiac arrest Cerebral visual impairment Atrial fibrillation Hallucinations Abnormality of retinal pigmentation Gingival overgrowth Anorexia Left ventricular hypertrophy Decreased body weight Involuntary movements Hypertrichosis Hemiparesis Postural instability Polyneuropathy Abdominal pain Myalgia Protruding ear Abnormality of the pinna Developmental regression Feeding difficulties in infancy Mental deterioration Apnea Hypertrophic cardiomyopathy Proteinuria Anxiety EEG abnormality Nyctalopia Photophobia Jaundice Gastroesophageal reflux Acidosis Hypothyroidism Autism Weight loss Gait ataxia Cerebral cortical atrophy Abnormality of the liver Attention deficit hyperactivity disorder Nephropathy Anal atresia Hirsutism Polymicrogyria Nausea Lactic acidosis Peripheral axonal neuropathy Vertigo Confusion Paresthesia Dysmetria Delayed puberty Stroke Malabsorption Nausea and vomiting Carious teeth Congenital cataract Ophthalmoplegia Lethargy Generalized tonic-clonic seizures Dilated cardiomyopathy Neurological speech impairment Diffuse skin atrophy


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