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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.
Medical genetics. Amelia is the birth defect of lacking one or more limbs. [1] [2] The term may be modified to indicate the number of legs or arms missing at birth, such as tetra-amelia for the absence of all four limbs. The term is from Greek ἀ- 'lack of' plus μέλος (plural: μέλεα or μέλη) 'limb'.
In early human fetal development, webbing (syndactyly) of the toes and fingers is normal. At about 6 weeks of gestation, apoptosis takes place due to a protein named sonic hedgehog , also known as SHH, which dissolves the tissue between the fingers and toes, and the webbing disappears.
None. Polydactyly or polydactylism (from Greek πολύς (polys) 'many', and δάκτυλος (daktylos) 'finger'), [1] also known as hyperdactyly, is an anomaly in humans and non-human animals resulting in supernumerary fingers and/or toes. [2] Polydactyly is the opposite of oligodactyly (fewer fingers or toes).
Extra toes are more commonly seen than fingers. Often both the toes and fingers are webbed, a process that occurs before the sixth week gestational period. Often their digits will be abnormally short, and the fingers are commonly missing an interphalangeal joint.
This condition is normally discovered at birth. If other symptoms are present, a specific syndrome may be indicated. Diagnosis of a specific syndrome is based on family history, medical history, and a physical exam. Webbed toes are also known as "twin toes," "duck toes," "turkey toes," "tree toes" and "tiger toes." Severity can vary.
Missing collarbone, prominent forehead, flat nose, shorter: Usual onset: Present at birth: Causes: Genetic (RUNX2 gene) Diagnostic method: Based on symptoms and X-rays, confirmed by genetic testing: Differential diagnosis: Mandibuloacral dysplasia, pyknodysostosis, osteogenesis imperfecta, Hajdu-Cheney syndrome: Treatment: Supportive care ...
Möbius syndrome or Moebius syndrome is a rare congenital neurological disorder which is characterized by facial paralysis and the inability to move the eyes from side to side. Most people with Möbius syndrome are born with complete facial paralysis and cannot close their eyes or form facial expressions.
Phocomelia is a congenital condition that involves malformations of human arms and legs which results in a flipper-like appendage. [1] [2] A prominent cause of phocomelia is the mother's use of the drug thalidomide during pregnancy; however, the causes of most cases are to be determined. [2]
Ectrodactyly, split hand, or cleft hand [1] (derived from Greek ektroma "miscarriage" and daktylos "finger") [2] 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). [3] The hands and feet of people with ectrodactyly (ectrodactyls) are often ...