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Symbrachydactyly is a congenital abnormality, characterized by limb anomalies consisting of brachydactyly, cutaneous syndactyly and global hypoplasia of the hand or foot. [1] In many cases, bones will be missing from the fingers and some fingers or toes may be missing altogether.
(Limb Malformations & Skeletal Dysplasia) Rubinstein–Taybi syndrome presents itself from birth, and is usually hallmarked by delayed physical and cognitive growth. [citation needed] Typical features of the disorder include: Broad thumbs and broad first toes and clinodactyly of the 5th finger [4] Mental disability
Type E shortens the bones in the hands and feet along with the bottom bone in the fingers. Instead of making the fingers and toes look shorter, it makes the hands and feet look smaller. [9] Type B and E: 112440: ROR2 HOXD13: 9q22, 2q31-q32: Brachydactyly types B and E combined, Ballard syndrome or Pitt-Williams brachydactyly. Type A1B, BDA1B ...
Polydactyly is a birth defect that results in extra fingers or toes. [2] The hands are more commonly involved than the feet. [2] Extra fingers may be painful, affect self-esteem, or result in clumsiness. [3] It is associated with at least 39 genetic mutations. [4] It may either present alone or with other defects. [2] Cases may run in families. [2]
Mutations in the fibrillin-2 gene, in chromosome 5q23, or the fibrillin-1 gene, at chromosome 15q21.1 Arachnodactyly (" spider fingers ") is a medical condition that is characterized by fingers and toes that are abnormally long and slender, in comparison to the palm of the hand and arch of the foot.
Familial opposable triphalangeal thumb duplication is a limb malformation syndrome and a type of pre-axial polydactyly, characterized by having duplicated opposable triphalangeal thumbs. This condition can be a symptom of other genetic disorders, such as Holt–Oram syndrome and Fanconi anemia .
The 28-year-old was born with amniotic band syndrome, a rare condition in which fibrous bands from the amniotic sac become tangled around parts of the developing fetus.
Clinodactyly is an autosomal dominant trait that has variable expressiveness and incomplete penetrance. [citation needed]Clinodactyly can be passed through inheritance and presents as either an isolated anomaly or a component manifestation of a genetic syndrome. [2]