Paula and Bobby
Parents of Lillie
What is Acheiropody; ACHP?
Acheiropody; ACHP is a rare disease. It is also known as Acheiropodia Acheiropody, Brazilian Type Handless-footless families of Brazil.
This entity is characterised by the absence of both hands and feet. The lesions are, however, more extensive, and affected members lack the forearm and elbow joint, and in the lower limbs, the fibula and distal third of the tibia. The condition was first described in 1929 and has been extensively reviewed by Freire-Maia (1981). Almost all cases have been described in Brazil, however Kruger and Kumar (1994) reported a brother and sister of Puerto Rican origin. The inheritance pattern appears to be autosomal recessive. Escamilla et al., (2000) mapped the gene to 7q36. Ianakiev et al., (2001) identified a deletion in the C7orf2 gene, the human homologue of the Lmbr1 gene. This encodes for a putative receptor.
* This information is courtesy of the L M D.
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What gene changes cause Acheiropody; ACHP?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 200500 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
LMBR1 - 7q36.3
What are the main symptoms of Acheiropody; ACHP?
The typical symptoms of the syndrome are:
Short humerus, Short tibia, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand, Absent forearm, Abnormality of epiphysis morphology, Abnormality of the humerus, Abnormality of the metaphysis, Abnormality of the ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of the radius, Carpal bone aplasia, Absent toe, Aplasia of the tarsal bones, Aplasia of the phalanges of the hand, Absent metatarsal bone, Aplasia of metacarpal bones, Autosomal recessive inheritance, Upper limb phocomelia, Lower limb peromelia
How does someone get tested for Acheiropody; ACHP?
The initial testing for Acheiropody; ACHP can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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