Acheiropodia

Acheiropodia

• An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities (amputation of distal epiphysis of the humerus, distal portion of the tibial diaphysis, aplasia of the radius, ulna, fibula) and aplasia of hands and feet (aplasia of carpal, metacarpal, tarsal, metatarsal and phalangeal bones).
• Rarely, an ectopic bone can be found at the distal end of the humerus.
• No other systemic manifestations have been reported and the disorder follows an autosomal recessive pattern of inheritance.
• The condition appears to affect only the extremities, with no other signs and symptoms reported. It is caused by a defect in the LMBR1 gene and is inherited in an autosomal recessive manner.

Synonyms

Acheiropody

Incidence

How common is Acheiropodia?

<1 / 1000000

Fewer than 1,000 people in the U.S. have Acheiropodia.

Inheritance

All individuals inherit two copies of most genes. The number of copies of a gene that need to have a disease-causing variant affects the way a disease is inherited. This disease is inherited in the following pattern(s):

• Autosomal recessive 

Age of Onset

When do Symptoms of Acheiropodia Begin?

Symptoms of this disease may start to appear during Pregnancy and as a Newborn.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges.

The symptoms from some diseases may begin at any age. Knowing when symptoms began to appear can help medical providers find the correct diagnosis.

• Neonatal
• Antenatal

What are the symptoms of Acheiropodia

• The number and severity of symptoms experienced may differ among people with this disease. Your experience may be different from others, and you should consult your primary care provider for more information.
• This list is not all-inclusive, but the following symptoms have been linked to this disease:

Very Common Symptoms

The below listed are the very common symptoms of Acheiropodia

• Abnormality of epiphysis morphology –

An anomaly of epiphysis, which is the expanded articular end of a long bone that developes from a secondary ossification center, and which during the period of growth is either entirely cartilaginous or is separated from the shaft by a cartilaginous disk.

Synonyms:Abnormal shape of end part of bone; Abnormality of the epiphyses; Anomaly of the epiphyses; Epiphyseal abnormality

• Abnormality of the metaphysis –

An abnormality of one or more metaphysis, i.e., of the somewhat wider portion of a long bone that is adjacent to the epiphyseal growth plate and grows during childhood.

Synonyms:Abnormality of the wide portion of a long bone

• Absent hand –

The total absence of the hand, with no bony elements distal to the radius or ulna.

Synonyms:Absent hand; Acheiria

• Absent radius –

Missing radius bone associated with congenital failure of development.

Synonyms:absence of radius and ulna; Absent ossification/absence of radius; Aplasia of the radius; Missing outer large bone of forearm; Radial aplasia

• Absent ulna –

Missing ulna bone associated with congenital failure of development.

Synonyms:Absent ossification/absent ulna; Absent ulna

• Fibular aplasia –

Absence of the fibula.

Synonyms:Absent calf bone; Absent fibulae; Absent-hypoplastic fibulae

• Short humerus –

Underdevelopment of the humerus.

Synonyms:Humeral hypoplasia; Humeral shortening; Hypoplastic humerus; Short humeri; Short humerus; Short long bone of upper arm; Short upper arms

• Upper limb phocomelia – Missing or malformed long bones of the upper limbs with the distal parts (the hands) connected to the variably shortened or even absent upper extremity, leading to a flipper-like appearance, as opposed to other forms of limb malformations were either the whole limb is missing (such as amelia), or the distal part of a limb is absent (peromelia).

What causes this condition?

• Acheiropodia is a genetic disease, which means that it is caused by one or more genes not working correctly.
• Disease-causing variants, or differences, in the following gene(s) are known to cause this disease: LMBR1