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  2. Polydactyly - Wikipedia

    en.wikipedia.org/wiki/Polydactyly

    Yoandri Hernández Garrido, nicknamed Veinticuatro ("twenty four" in Spanish), has six fully formed fingers on both hands and six perfect toes on each foot. [60] Hampton Hawes, jazz pianist, was born with six fingers on each hand (the extra fingers were surgically removed shortly after birth). [61]

  3. Liebenberg syndrome - Wikipedia

    en.wikipedia.org/wiki/Liebenberg_syndrome

    This PT1X gene encodes a transcription factor expressed in hind limbs. When expressed, it causes the formation of hindlimb structures. [citation needed] Liebenberg Syndrome is a result of one of two different genetic mutations. The first is a deletion upstream of the PITX1 gene on chromosome 5.

  4. Camptodactyly - Wikipedia

    en.wikipedia.org/wiki/Camptodactyly

    Camptodactyly is a medical condition that causes one or more digits (fingers or toes) to be permanently bent. It involves fixed flexion deformity of the proximal interphalangeal joints. Camptodactyly can be caused by a genetic disorder. In that case, it is an autosomal dominant trait that is known for its incomplete genetic expressivity. This ...

  5. Greig cephalopolysyndactyly syndrome - Wikipedia

    en.wikipedia.org/wiki/Greig_cephalopolysyndactyl...

    Greig cephalopolysyndactyly syndrome has an autosomal dominant pattern of inheritance. Finger with syndactyly of many digits caused by Greig cephalopolysyndactyly. Greig cephalopolysyndactyly syndrome is a chromosomal condition related to chromosome 7. Mutations in the GLI3 gene cause Greig

  6. Ectrodactyly–ectodermal dysplasia–cleft syndrome - Wikipedia

    en.wikipedia.org/wiki/Ectrodactyly–ectodermal...

    Ectrodactyly involves the deficiency or absence of one or more central digits of the hand or foot and is also known as split hand–split foot malformation (SHFM). [9] The hands and feet of people with ectrodactyly are often described as "claw-like" and may include only the thumb and one finger (usually either the little finger, ring finger, or a syndactyly of the two) with similar ...

  7. List of gene therapies - Wikipedia

    en.wikipedia.org/wiki/List_of_gene_therapies

    Ciltacabtagene autoleucel (Carvykti): treatment for multiple myeloma [6] Delandistrogene moxeparvovec (Elevidys): treatment for Duchenne muscular dystrophy [7] [8] Elivaldogene autotemcel (Skysona): treatment for cerebral adrenoleukodystrophy [9] Etranacogene dezaparvovec (Hemgenix): AAV-based treatment for hemophilia B [10]

  8. Schmitt Gillenwater Kelly syndrome - Wikipedia

    en.wikipedia.org/wiki/Schmitt_Gillenwater_Kelly...

    Although more research is needed, the genetic cause of radial hypoplasia is believed to come from a rare allele of the Sonic hedgehog (Shh) gene. [3] This gene produces the Shh protein that induces development of the ulna, and the index, middle, ring, and pinky fingers while increasing the expression of fibroblast growth factor (FGF), another signaling molecule, which induces development of ...

  9. Ellis–Van Creveld syndrome - Wikipedia

    en.wikipedia.org/wiki/Ellis–van_Creveld_syndrome

    Ellis–Van Creveld syndrome is caused by a mutation in the EVC gene, as well as by a mutation in a nonhomologous gene, EVC2, located close to the EVC gene in a head-to-head configuration. The gene was identified by positional cloning. [4] The EVC gene maps to the chromosome 4 short arm (4p16). The function of a healthy EVC gene is not well ...