Characterized by bilateral congenital amputations of the upper
and lower extremities and aplasia of the hands and feet. The specific pattern of
malformations consist of a complete amputation of the distal epiphysis of the humerus,
amputation of the distal part of the tibial diaphysis, and aplasia of the radius, ulna,
fibula, and of the carpal, metacarpal, tarsal, metatarsal, and phalangeal bones.
Handless-Footless Families of Brazil; ACHP; Acheiropody.
1 in 250,000 births in Brazil. The highest
incidence is observed among children born from consanguineous parents. Consanguinity has
been found in 82% of parents. Autosomal recessive.
Bilateral congenital amputations of the upper and lower
extremities and aplasia of the hands and feet, with the presence of Bohomoletz bone, i.e.
an elongated small bone in the tip of the upper limb remnant, parallel to the axis of the
humerus. However, the expressivity is rather variable and patients may or may not show
this specific bone deformation characteristic of the disease.
There are no specific anesthetic considerations
with this condition.
There are no pharmacological implications.
Duboule D: The vertebrate limb: a model system to study the Hox/HOM gene network during
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Escamilla MA, DeMille MC, Benavides E, et al: A minimalist approach to gene mapping:
locating the gene for acheiropodia, by homozygosity analysis. Am J Hum Genet