Patients with TEH syndrome typically present with a range of physical abnormalities. The most notable features include:

• Tibial Aplasia: Absence or underdevelopment of the tibia, leading to limb length discrepancies and potential mobility issues.
• Ectrodactyly: Also known as "split hand/foot malformation," this involves missing or fused digits, resulting in a claw-like appearance of the hands or feet.
• Hydrocephalus: An excessive accumulation of cerebrospinal fluid in the brain, which can cause increased head size, developmental delays, and neurological issues.

Other possible features may include facial dysmorphisms, such as a cleft lip or palate, and other skeletal anomalies.

Diagnosing TEH syndrome involves a combination of clinical evaluation, imaging studies, and genetic testing. Key steps in the workup include:

• Clinical Examination: A thorough physical examination to assess limb abnormalities and other physical features.
• Imaging: X-rays and MRI scans to evaluate bone structure and detect hydrocephalus.
• Genetic Testing: Chromosomal analysis and gene sequencing to identify any genetic mutations associated with the syndrome.

Early diagnosis is crucial for managing symptoms and planning appropriate interventions.

Treatment for TEH syndrome is symptomatic and supportive, focusing on managing individual symptoms and improving quality of life. Key treatment strategies include:

• Orthopedic Interventions: Surgery or prosthetics to address limb malformations and improve mobility.
• Neurosurgical Procedures: Shunt placement to manage hydrocephalus and prevent complications.
• Rehabilitation: Physical and occupational therapy to enhance motor skills and independence.
• Multidisciplinary Care: Involvement of specialists such as orthopedic surgeons, neurologists, and geneticists to provide comprehensive care.

The prognosis for individuals with TEH syndrome varies depending on the severity of symptoms and the effectiveness of interventions. Early diagnosis and treatment can significantly improve outcomes, particularly in managing hydrocephalus and mobility issues. However, some patients may experience ongoing challenges related to physical and developmental disabilities.

TEH syndrome is believed to have a genetic basis, although the exact cause is not fully understood. It may result from mutations in genes involved in limb and brain development. In some cases, the syndrome may occur sporadically, with no family history, while in others, it may follow an autosomal dominant inheritance pattern, meaning a single copy of the mutated gene can cause the disorder.

TEH syndrome is extremely rare, with only a few cases reported in the medical literature. Due to its rarity, precise data on its prevalence and incidence are not available. The condition affects both males and females, and there is no known ethnic or geographical predilection.

The pathophysiology of TEH syndrome involves disruptions in normal embryonic development, particularly affecting the formation of limbs and the central nervous system. Genetic mutations may interfere with signaling pathways that regulate bone growth and brain fluid dynamics, leading to the characteristic features of the syndrome.

Currently, there are no known measures to prevent TEH syndrome, as it is primarily a genetic condition. Genetic counseling may be beneficial for families with a history of the disorder, providing information on the risks of recurrence in future pregnancies.

Tibial Aplasia - Ectrodactyly - Hydrocephalus syndrome is a rare genetic disorder characterized by limb malformations, split hand/foot malformation, and hydrocephalus. Diagnosis involves clinical evaluation, imaging, and genetic testing. Treatment is supportive, focusing on managing symptoms and improving quality of life. The condition's rarity and genetic basis make prevention challenging, but early intervention can enhance outcomes.

If you or a loved one has been diagnosed with TEH syndrome, it's important to work closely with a team of healthcare professionals to manage the condition. Treatment will be tailored to address specific symptoms, such as limb differences and hydrocephalus. Regular follow-up and supportive therapies can help improve mobility and developmental outcomes. Genetic counseling may provide valuable insights for family planning and understanding the condition's inheritance patterns.