Hereditary Fibrosing Poikiloderma-tendon Contractures-myopathy-pulmonary Fibrosis Syndrome
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome is a rare, genetic, hereditary poikiloderma syndrome characterized by early-onset poikiloderma (mainly on the face), hypotrichosis, hypohidrosis, muscle and tendon contractures with varus foot deformity, progressive proximal and distal muscle weakness in all extremities, and progressive pulmonary fibrosis. Mild lymphedema of the extremities, growth retardation, liver impairment, exocrine pancreatic insufficiency and hematologic abnormalities are additional variable features.
Genes related to Hereditary Fibrosing Poikiloderma-tendon Contractures-myopathy-pulmonary Fibrosis Syndrome
Clinical FeaturesTop most frequent phenotypes and symptoms related to Hereditary Fibrosing Poikiloderma-tendon Contractures-myopathy-pulmonary Fibrosis Syndrome
- Muscle weakness
- Flexion contracture
- Skeletal muscle atrophy
- Gait disturbance
- Elevated serum creatine phosphokinase
And another 22 symptoms. If you need more information about this disease we can help you.
Incidence and onset information— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .
Hereditary Fibrosing Poikiloderma-tendon Contractures-myopathy-pulmonary Fibrosis Syndrome Is also known as poiktmp syndrome, poikiloderma, hereditary sclerosing, with tendon and pulmonary involvement.
Researches and researchersCurrently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.
Hereditary Fibrosing Poikiloderma-tendon Contractures-myopathy-pulmonary Fibrosis Syndrome Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
Poikiloderma, Hereditary Fibrosing, with Tendon Contractures, Myopathy, and Pulmonary Fibrosis (POIKTMP) via FAM111B Gene Sequencing with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
By Fulgent Genetics Fulgent Genetics (United States).
Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis: gene sequencing.
By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).
You can get up to -5 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM ORPHANET Rare Disease Symptoms Checker
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