Patients with this condition typically present with a range of symptoms that can include:

• Short Stature: Below-average height for age and sex.
• Intellectual Disability: Challenges in cognitive functioning and adaptive behaviors.
• Callosal Agenesis: Partial or complete absence of the corpus callosum, which can affect coordination and communication between the brain's hemispheres.
• Heminasal Hypoplasia: Underdevelopment of one side of the nose, which may affect breathing and appearance.
• Microphthalmia: Abnormally small eyes, potentially leading to vision problems.
• Atypical Clefting: Unusual clefts in the facial region, which may affect feeding, speech, and appearance.

Diagnosing this condition involves a comprehensive evaluation, including:

• Clinical Examination: Detailed assessment of physical features and developmental milestones.
• Imaging Studies: MRI or CT scans to evaluate brain structures, particularly the corpus callosum.
• Genetic Testing: To identify any underlying genetic mutations or chromosomal abnormalities.
• Ophthalmologic Evaluation: To assess eye development and function.
• ENT Assessment: To evaluate nasal and facial structures.

Treatment is symptomatic and supportive, focusing on managing individual symptoms:

• Growth Hormone Therapy: May be considered for short stature.
• Special Education and Therapy: To support cognitive and developmental needs.
• Surgical Interventions: For cleft repair and nasal reconstruction, if necessary.
• Vision Support: Glasses or other aids for microphthalmia.
• Multidisciplinary Care: Involving pediatricians, neurologists, geneticists, and other specialists.

The prognosis varies depending on the severity of symptoms and the presence of associated complications. Early intervention and supportive therapies can improve quality of life and developmental outcomes. However, intellectual disability and physical abnormalities may persist throughout life.

The exact cause of this condition is not well understood, but it is believed to be genetic. It may result from mutations in specific genes or chromosomal abnormalities that affect development. In some cases, it may be inherited, while in others, it may occur sporadically.

This is an extremely rare condition, with only a few cases reported in the medical literature. Due to its rarity, precise prevalence and incidence rates are not well established.

The pathophysiology involves disruptions in normal developmental processes, particularly those affecting the brain, facial structures, and growth. Genetic mutations or chromosomal abnormalities can lead to the malformations and functional impairments observed in affected individuals.

Currently, there are no known preventive measures for this condition due to its genetic nature. Genetic counseling may be beneficial for families with a history of similar disorders to understand potential risks.

This rare genetic disorder presents with a combination of growth, developmental, and structural abnormalities. Diagnosis involves a thorough clinical and genetic evaluation, and treatment is focused on managing symptoms and supporting development. While the condition poses significant challenges, early intervention can help improve outcomes.

If you or someone you know is affected by this condition, it is important to work closely with a healthcare team to address the various symptoms and challenges. Supportive therapies and interventions can make a significant difference in managing the condition and improving quality of life.