acheiropody

Acheiropody Description

Acheiropody, also known as Horn Kolb syndrome or Brazilian type, is a rare genetic condition characterized by bilateral congenital amputations of the hands and feet. This condition involves complete amputation of the distal humeral epiphysis (end of the upper arm bone) and tibial diaphysis (mid-section of the shin bone), as well as aplasia (lack of development) of the radius, ulna, fibula, and all the bones of the hands and feet.

Key Features:

• Bilateral congenital amputations of the upper and lower extremities
• Aplasia of the hands and feet
• Complete amputation of the distal epiphysis of the humerus
• Amputation of the distal part of the tibial diaphysis
• Aplasia of the radius, ulna, fibula, carpal, metacarpal, tarsal, metatarsal bones

Inheritance Pattern: Acheiropody is inherited as an autosomal recessive trait, with consanguinity present in over 80% of parents. Heterozygous individuals are phenotypically normal.

References: [1] [2] [3] [4] [5]

Bilateral Congenital Amputations

Acheiropody is characterized by bilateral, congenital amputations of the hands and feet. This means that individuals with this condition are born without fully formed hands and feet on both sides of their body.

• Complete Absence of Hands and Feet: The distal epiphysis (end) of the humerus bone in the upper arm and the distal portion of the tibial diaphysis (mid-section) of the shin bone are completely absent.
• Aplasia of Bones: The radius, ulna, fibula, and all bones of the hands and feet are also absent or underdeveloped.

Limited Mobility

Due to the absence of fully formed hands and feet, individuals with acheiropody may experience limited mobility. However, some individuals may be able to walk or move around using alternative methods [6].

No Other Signs or Symptoms

Acheiropody appears to affect only the extremities, with no other signs or symptoms reported in most cases [2][6]. The condition is caused by a defect in the LMBR1 gene and is inherited in an autosomal recessive manner.

References: [1] - Not relevant [2] - Acheiropodia, also known as Horn Kolb syndrome, is a genetic condition that affects limb development... [3] - Not relevant [4] - Acheiropody is a very rare condition characterized by bilateral, congenital amputations of the hands and feet. [5] - Disease definition. An extremely rare developmental disorder characterized by bilateral, congenital and complete amputation of the distal extremities... [6] - Walking may be possible for individuals with acheiropody...

Diagnostic Tests for Acheiropodia

Acheiropodia, also known as Acheiropody, is a rare developmental disorder characterized by bilateral, congenital amputations of the hands and feet. Diagnosing this condition requires a combination of clinical evaluation and diagnostic tests.

• Prenatal Ultrasound Screening: The diagnosis of acheiropodia often begins with prenatal ultrasound screening, which can detect the absence or abnormal formation of bones in the fetal limbs [6].
• Complete Physical Examination: A thorough physical examination is essential to confirm the diagnosis. This includes assessing the extent and severity of limb amputations [7].
• Thorough Medical History Evaluation: A detailed medical history evaluation is also necessary to rule out other conditions that may cause similar symptoms.
• Genetic Testing: Genetic testing can be performed to confirm the diagnosis and identify any genetic mutations associated with acheiropodia. This involves analyzing DNA samples from affected individuals and their family members [8].

Additional Diagnostic Information

It's worth noting that acheiropodia is a rare condition, and diagnostic tests may not always be available or necessary in all cases. In some instances, the diagnosis may be made based on clinical evaluation alone.

References:

[6] - Failure to visualize bones at the ends of fetal limbs can indicate prenatal ultrasound screening for acheiropodia. [7] - A complete physical examination is essential to confirm the diagnosis of acheiropodia. [8] - Genetic testing can be performed to confirm the diagnosis and identify any genetic mutations associated with acheiropodia.

Achei

Acheiropody, also known as Acheiropodia, is a rare congenital disorder characterized by bilateral amputations of the hands and feet. When diagnosing this condition, it's essential to consider other possible causes that may present with similar symptoms. Here are some differential diagnoses for acheiropody:

• Polysyndactyly: This genetic disorder involves extra fingers or toes, which can be mistaken for amputations in the case of acheiropody.
• Amniotic band syndrome: This condition occurs when amniotic bands wrap around a fetus's limbs, causing constriction and potential amputation. However, this is typically unilateral (one-sided) rather than bilateral.
• Congenital limb abnormalities: Other rare congenital conditions, such as ectrodactyly or synpolydactyly, can present with abnormal limb formation, which may be confused with acheiropody.
• Neurological disorders: Certain neurological conditions, like arthrogryposis multiplex congenita, can cause joint contractures and limb deformities that might resemble acheiropody.
• Skeletal dysplasias: A group of rare genetic disorders affecting bone growth and development, which can lead to abnormal limb formation or amputations.

It's crucial for healthcare professionals to carefully evaluate each patient's unique presentation and medical history to accurately diagnose acheiropody. A thorough physical examination, combined with a detailed medical history evaluation, assessment of signs and symptoms, and possibly imaging studies (e.g., X-rays), can help differentiate acheiropody from these other conditions.

References:

• [1] - Complete congenital amputation of the humerus's distal epiphysis, amputation of the distal part of the lower limbs, and aplasia of the hands and feet are characteristic features of acheiropody. (8)
• [2] - Acheiropodia is an autosomal recessive developmental disorder presenting with bilateral congenital amputations of the upper and lower extremities and aplasia of the hands and feet. Specific patterns of limb abnormalities may be observed in affected individuals. (3, 6, 10)
• [3] - The diagnosis of acheiropody is based on a complete physical examination, thorough medical history evaluation, assessment of signs and symptoms, and possibly imaging studies. (9)