Radiograph of the hands of an Egyptian patient with Du Pan syndrome
Radiograph of the feet of an Egyptian patient with Du Pan syndrome
Specialty
Medical genetics
Symptoms
Complicated brachydactyly and dysplastic/aplastic/hypoplastic fibula bones and hands and feet
Complications
Balance
Usual onset
Birth
Duration
Life-long
Causes
Genetic mutation
Risk factors
Being born to consanguineous parents or having a parent with the disorder
Diagnostic method
Through symptoms and molecular testing
Prevention
none
Prognosis
Good
Frequency
very rare, around 30 cases have been reported.
Du Pan syndrome, also known as fibular aplasia-complex brachydactyly syndrome, is an extremely rare genetic condition. Unlike other rare genetic conditions, Du Pan syndrome does not affect brain function or the appearance of the head and trunk. This condition is associated with alterations to the GDF5 (also known as CDMP1) gene.[1] The way that this condition is passed on from generation to generation varies, but it is most commonly inherited in an autosomal recessive manner, meaning two copies of the same version of the gene are required to show this condition.[2] Rare cases exist where the mode of inheritance is autosomal dominant, which means only one version of the gene is necessary to have the condition.[2]
^Szczaluba, K.; Hilbert, K.; Obersztyn, E.; Zabel, B.; Mazurczak, T.; Kozlowski, K. (2005). "Du Pan syndrome phenotype caused by heterozygous pathogenic mutations in CDMP1 gene". American Journal of Medical Genetics Part A. 138A (4): 379–383. doi:10.1002/ajmg.a.30969. ISSN 1552-4825. PMID 16222676. S2CID 40325787.
^ ab"Autosomal Recessive Disorder". National Human Genome Research Institute. November 20, 2023.
DuPansyndrome, also known as fibular aplasia-complex brachydactyly syndrome, is an extremely rare genetic condition. Unlike other rare genetic conditions...
are five types of AMD: Osebold-Remondini Maroteaux Grebe dysplasia DuPansyndrome Acromesomelic dysplasia with genital anomalies Osebold-Remondini causes...
Le syndrôme de Peter Pan is the third studio album by French singer and television celebrity Elisa Tovati. It was released on 12 August 2011 in France...
Multiple organ dysfunction syndrome (MODS) is altered organ function in an acutely ill patient requiring medical intervention to achieve homeostasis. Although...
Peter Pan: Return to Never-Never Land #1 July 1991: Ron Fortier, Gary Kato: Books Neverpedia: Peter Pan, Return to Never-Never Land "Peter PanSyndrome"....
are also considered pantheistic. Pantheism derives from the Greek word πᾶν pan (meaning "all, of everything") and θεός theos (meaning "god, divine"). The...
(see crotch pressure for more information). Individuals with hard flaccid syndrome or other pelvic floor disorders may temporarily have an abnormally small...
The bonobo (/bəˈnoʊboʊ, ˈbɒnəboʊ/; Pan paniscus), also historically called the pygmy chimpanzee (less often the dwarf chimpanzee or gracile chimpanzee)...
Middle East respiratory syndrome (MERS) is a viral respiratory infection caused by Middle East respiratory syndrome–related coronavirus (MERS-CoV). Symptoms...
more common upon awakening. Similar conditions include: Exploding head syndrome (EHS) potentially frightening parasomnia, the hallucinations are usually...
children, he is the namesake of the autism spectrum disorder Asperger syndrome. He wrote more than 300 publications on psychological disorders that posthumously...
for his coverage of the 1979-81 Iran Hostage Crisis; the 1988 bombing of Pan Am Flight 103 over Lockerbie, Scotland; and his claims of a missile being...
and Williams syndrome; Nancy Etcoff of Harvard Medical School; Phineas Gage; neurologist Robert T. Knight of UC Berkeley; Turner syndrome, where females...
Aaron Kreuter poet, short stories You and Me, Belonging, Shifting Baseline Syndrome John Krizanc 1956 playwright Tamara Robert Kroetsch 1927 2011 novelist...
(5-HT) or substance P, causing a constellation of symptoms called carcinoid syndrome:[citation needed] flushing diarrhea asthma or wheezing congestive heart...
well as rare skeletal syndromes such as Bruck syndrome, hypophosphatasia, geroderma osteodysplasticum, and Ehlers–Danlos syndrome.: 1513 : 253–256 Various...
2003 when it became the centre of a major SARS (severe acute respiratory syndrome) outbreak. Public health attempts to prevent the disease from spreading...
particular syndrome. Examples of chromosome abnormalities associated with cataracts include 1q21.1 deletion syndrome, cri-du-chat syndrome, Down syndrome, Patau's...
from the original on June 16, 2023. Retrieved June 16, 2023. "Une théorie du complot affirme qu'internet est « mort » depuis 2016". Ouest France (in French)...
Panipat (pronunciation) (Sanskrit पाण्डुप्रस्थ pāṇḍuprastha "City of Pāṇḍu" [ˈpaːɳ.ɖu.pɾɐs.t̪ʰɐ]) is a historic city, located in Haryana, India. It is 95 km...
ultra-processed foods with obesity, cardiovascular disease, hypertension, metabolic syndrome, depression, and various types of cancer. Researchers conclude that the...
Global Information
