hypoplastic or aplastic tibia with polydactyly

Hypoplastic or Aplastic Tibia with Polydactyly: A Rare Genetic Syndrome

Hypoplastic or aplastic tibia with polydactyly is a rare genetic syndrome characterized by abnormalities in the development of the lower leg bone (tibia) and extra fingers or toes. This condition is also known as Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome.

Key Features:

• Triphalangeal Thumbs: One of the hallmark features of this syndrome is the presence of triphalangeal thumbs, which means that the thumb has three bones instead of the usual two.
• Hand and Foot Polysyndactyly: Individuals with this condition often have extra fingers or toes, a condition known as polysyndactyly.
• Hypoplasia/Aplasia of the Tibia: The tibia bone is either underdeveloped (hypoplastic) or completely absent (aplastic).
• Short Stature: People with this syndrome often have short stature due to the abnormalities in bone development.
• Radio-Ulnar Synostosis: There may be a fusion of the radius and ulna bones in the forearm, a condition known as radio-ulnar synostosis.

Additional Features:

• Abnormalities of Carpals and Metatarsals: The carpal bones in the wrist and metatarsal bones in the foot may also be affected.
• Bowing of Long Bones: There may be bowing or curvature of the long bones, such as the femur (thigh bone) or humerus (upper arm bone).
• Absent Kneecaps: In some cases, the kneecaps (patellae) may be absent or underdeveloped.
• Fusion of Wrist Bones: The wrist bones may fuse together, a condition known as carpal fusion.
• Heart Abnormalities: There may be heart abnormalities associated with this syndrome.

Conclusion:

Hypoplastic or aplastic tibia with polydactyly is a rare and complex genetic syndrome that affects the development of the lower leg bone and extra fingers or toes. The condition is characterized by triphalangeal thumbs, hand and foot polysyndactyly, hypoplasia/aplasia of the tibia, short stature, and other associated features.

Common Signs and Symptoms

Hypoplastic or aplastic tibia with polydactyly is a rare genetic syndrome characterized by several distinct signs and symptoms. These may include:

• Shortened or incompletely formed tibia (lower leg bone) and/or fibula (shinbone): This is often a defining feature of the condition, leading to short stature and mobility issues [2].
• Extra fingers or toes: Polydactyly, or having extra digits, can occur in hands and feet, further

Diagnostic Tests for Hypoplastic or Aplastic Tibia with Polydactyly

Hypoplastic or aplastic tibia with polydactyly is a rare genetic syndrome that requires accurate diagnosis to determine the best course of treatment. The following diagnostic tests can help identify this condition:

• Radiographic examination: X-rays of the tibia are used to diagnose hypoplastic or aplastic tibia with polydactyly [5]. This test can reveal abnormalities in the shape and size of the tibia, as well as other skeletal anomalies.
• Blood tests and urine tests: These tests may be prescribed to rule out other conditions that could be causing similar symptoms [8].
• Biopsy: In some cases, a biopsy may be necessary to confirm the diagnosis [8].
• Clinical Molecular Genetics test: This test can help identify genetic mutations associated with hypoplastic or aplastic tibia with polydactyly [11]. Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) is offered by Intergen Genetic Diagnosis and Research Centre.
• Sequence Analysis-All Coding Exons: This test can help identify genetic mutations associated with hypoplastic or aplastic tibia with polydactyly [12].

It's essential to establish care with an engaged and dedicated primary care provider (PCP) who can help coordinate specialist referrals, order diagnostic tests, and provide ongoing care [10]. A PCP can also help you get the necessary diagnostic tests and coordinate providers as you build a healthcare team.

References:

[5] - Diagnosis is made radiographically with xrays of the tibia. [8] - May 2, 2022 — Hypoplasia is diagnosed with help of an X-ray made in two projections. Additionally, blood tests, urine tests, biopsy can be prescribed to ... [10] - Establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis. [11] - Clinical Molecular Genetics test for Tibia, hypoplasia or aplasia of, with polydactyly and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by Intergen Genetic Diagnosis and Research Centre. [12] - Hypoplastic or aplastic tibia with polydactyly, 188740, Autosomal dominant (Absent tibia-polydactyly syndrome) (LMBR1 gene) (Sequence Analysis-All Coding Exons) (Postnatal) GTR Test ID Help

Differential Diagnosis of Hypoplastic or Aplastic Tibia with Polydactyly

Hypoplastic or aplastic tibia with polydactyly is a rare genetic syndrome characterized by triphalangeal thumbs, hand and foot polysyndactyly, and hypoplasia/aplasia of the tibia. When considering differential diagnosis for this condition, several other syndromes and abnormalities should be taken into account.

• Tibial Hemimelia: This is a rare congenital limb deficiency characterized by a hypoplastic/aplastic tibia, often associated with preaxial mirror polydactyly and split hand/foot syndrome. Tibial hemimelia can range from mild hypoplasia of the tibia to complete absence of the tibia.
• Tibial Aplasia-Ectrodactyly Syndrome: This is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Other features may include hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears.
• Tripalangeal Thumb Syndrome: This syndrome is characterized by triphalangeal thumbs, hand and foot polysyndactyly, and hypoplasia/aplasia of the tibia. It may be associated with other abnormalities such as polydactyly and split-hand deformity.

Key Features to Consider

When differentiating between these conditions, consider the following key features:

• Tibial involvement: Hypoplastic or aplastic tibia is a hallmark feature of hypoplastic or aplastic tibia with polydactyly. Tibial hemimelia and tibial aplasia-ectrodactyly syndrome also involve the tibia, but may have different degrees of severity.
• Polydactyly: Polydactyly is a common feature in all three conditions, but may vary in degree and location.
• Split-hand deformity: Split-hand deformity is often associated with tibial hemimelia and tibial aplasia-ectrodactyly syndrome.

Conclusion

Differential diagnosis of hypoplastic or aplastic tibia with polydactyly requires careful consideration of other syndromes and abnormalities that share similar features. By examining the key features of each condition, healthcare providers can make an informed diagnosis and develop an appropriate treatment plan for affected individuals.

References:

• Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) is a rare congenital limb deficiency characterized by hypoplastic/aplastic tibia, preaxial mirror polydactyly, and split hand/foot syndrome. [Source: #15]
• Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. [Source: #13]