acromesomelic dysplasia, Hunter-Thompson type

Acromesomelic Dysplasia, Hunter-Thompson Type: A Rare Autosomal Recessive Condition

Acromesomelic dysplasia, Hunter-Thompson type is a rare autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) [1]. The condition is limited to the limbs, with no abnormalities reported in the craniofacial skeleton or axial skeletal system.

Key Features:

• Severe dwarfism, with adult height typically ranging from 100-140 cm
• Abnormalities restricted to the limbs, including:
  • Ankle anomalies [9]
  • Short digits
  • Elbow dislocation
  • Underdeveloped thumb
  • Irregularly shaped toes
  • Irregular length of toes
  • Irregularly shaped fingers
• Autosomal recessive inheritance pattern

References:

[1] Acromesomelic dysplasia, Hunter-Thompson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult. [5] [2] Acromesomelic dysplasia-2C is a rare autosomal recessive skeletal disorder characterized by severe dwarfism, with abnormalities limited to the limbs. The ... [8]

Note: The information provided is based on the search results and may not be an exhaustive list of all features or characteristics of acromesomelic dysplasia, Hunter-Thompson type.

Signs and Symptoms of Acromesomelic Dysplasia, Hunter-Thompson Type

Acromesomelic dysplasia, Hunter-Thompson type is a rare genetic disorder characterized by severe developmental abnormalities of the skeletal bones. The symptoms of this condition are primarily limited to the limbs, with the lower limbs being more affected than the upper limbs.

Key Symptoms:

• Short stature: Patients with acromesomelic dysplasia, Hunter-Thompson type typically have an adult height of approximately 120 cm.
• Abnormalities in the limbs: The condition affects the middle and distal segments of the limbs, leading to severe shortening, absence, or fusion of tubular bones in the hands and feet.
• Large joint dislocations: Patients may experience dislocations in the joints of the arms and legs.
• Ankle anomalies: Abnormalities in the ankles are a common feature of this condition.
• Short digits: The fingers and toes may be abnormally short.
• Elbow dislocation: Dislocation of the elbow joint is also a possible symptom.

Other Possible Symptoms:

• Progressive degeneration: The condition can lead to progressive degeneration of the skeletal system, resulting in stiffness, tenderness, osteoarthritis, and abnormal bone shape.
• Shortening of forearms and legs: Patients may experience shortening of the forearms and legs.

References:

• [3] Abnormality of speech or vocalization HP:0002167
• [4] Acromesomelic dysplasia-2C (AMD2C) is characterized by skeletal abnormalities restricted to the limbs; the craniofacial skeleton and axial skeletal structures ...
• [6] Signs and symptoms · Short stature · Progressive degeneration · Stiffness · Tenderness · Osteoarthritis · Abnormal bone shape.
• [7] Extremely short stature as a result of acromesomelic dysplasia (AMD) of the limbs (forearms, hands, lower legs, and feet). In general, patients present with ...
• [9] Types of acromesomelic dysplasia · Severe limb shortening of both forearm and legs, including fingers and toes. · The condition can lead to progressive degeneration of the skeletal system, resulting in stiffness, tenderness, osteoarthritis, and abnormal bone shape.
• [11] Acromesomelic dysplasia Hunter Thompson type is a rare genetic syndrome characterized by various severe developmental abnormalities of the skeletal bones. These abnormalities are restricted to the limbs, the craniofacial skeleton and axial skeletal structure. Symptoms. Ankle anomalies; Short digits; Elbow dislocation; Underdeveloped thumb ...
• [12] Disease Overview. Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of ...

Diagnostic Tests for Acromesomelic Dysplasia, Hunter-Thompson Type

Acromesomelic dysplasia, Hunter-Thompson type is a rare genetic disorder characterized by severe dwarfism and skeletal malformations. Diagnostic tests are essential to confirm the presence of this condition.

• Genetic Analysis: A molecular diagnosis can be provided through genetic analysis, which involves testing for mutations in the GDF5 gene [1]. This test is recommended for individuals with a personal and/or family history of acromesomelic dysplasia Hunter-Thompson type.
• Clinical Genetic Tests: The CEN4GEN Institute for Genomics and Molecular Diagnostics offers clinical genetic tests for conditions, including acromesomelic dysplasia 2C [2]. These tests can provide a molecular diagnosis and are available for individuals with a personal and/or family history of this disorder.
• Molecular Genetics Tests: A total of 21 tests are available in the database for acromesomelic dysplasia Hunter-Thompson type, including molecular genetics tests [3].
• NGS Screening Panel: A next-generation sequencing (NGS) screening panel is also available for primary bone dysplasia, which can include testing for mutations in the GDF5 gene [4].

It's essential to consult with a healthcare professional or a genetic counselor to determine the most appropriate diagnostic tests for an individual suspected of having acromesomelic dysplasia Hunter-Thompson type.

References:

[1] Context 3 [2] Context 2 [3] Context 4 [4] Context 7

Treatment Overview

Acromesomelic dysplasia, Hunter-Thompson type is a rare genetic disorder that affects bone and cartilage development. While there is no cure for this condition, treatment focuses on managing symptoms to improve quality of life.

• Palliative care: Treatment is individualized but generally aimed at alleviating symptoms such as kyphosis (abnormal curvature of the spine) and lumbar hyperlordosis (excessive inward curve of the lower back). [9]
• Symptom management: Focuses on treating specific issues, like abnormal bone and cartilage development, which can affect various body parts. [10]

Current Research and Expert Recommendations

While there is limited information available on drug treatment for acromesomelic dysplasia, Hunter-Thompson type, research suggests that:

• BMPR1B: A study reported the first familial case of this condition, highlighting the importance of BMPR1B in understanding its etiology. [6]
• Expert providers: Dr. Kandula is an experienced provider in treating acromesomelic dysplasia Hunter Thompson Type and has expertise in managing related symptoms. [7]

Important Considerations

It's essential to note that treatment should be individualized, and patients are recommended to consult with a qualified specialist for personalized care. [2]

The differential diagnosis for acromesomelic dysplasia, Hunter-Thompson type involves considering other conditions that may present with similar symptoms.

• Other forms of acromesomelic dysplasia: The differential diagnosis should include other types of acromesomelic dysplasias, such as the Maroteaux type, which also presents with short stature and limb abnormalities [9].
• Osteochondrodysplasias: Conditions like osteogenesis imperfecta, spondyloepiphyseal dysplasia, and diastrophic dysplasia may present with similar skeletal abnormalities, including short stature and joint dislocations [8].
• Genetic disorders: Other genetic conditions that affect bone development, such as achondroplasia, hypochondroplasia, and thanatophoric dysplasia, should be considered in the differential diagnosis [5].

It's essential to note that a definitive diagnosis of acromesomelic dysplasia, Hunter-Thompson type can only be made through genetic analysis, which involves testing for mutations in the GDF5 gene [9].