VB
Vikas Bhardwaj
Medical Technologist, AIIMS New Delhi
Updated: Apr 17, 2026
**Core Concept**
The patient's symptoms and physical examination findings suggest a condition characterized by developmental delay, dental abnormalities, and characteristic facial features. This condition is likely related to a genetic disorder affecting dental and skeletal development.
**Why the Correct Answer is Right**
The patient's history of delayed tooth eruption, underdeveloped midface, and brachycephalic skull are classic features of Cleidocranial Dysplasia (CCD). This condition is caused by mutations in the RUNX2 gene, which plays a crucial role in osteoblastic differentiation and bone formation. The delayed tooth eruption is due to the abnormal development of dental lamina, while the characteristic facial features are a result of the underdevelopment of the midface and skull.
**Why Each Wrong Option is Incorrect**
**Option A:** Crouzon Syndrome is a genetic disorder that affects the development of the skull and face, but it typically presents with a more severe craniosynostosis and facial asymmetry, which is not mentioned in the patient's history.
**Option B:** Apert Syndrome is another genetic disorder that affects the development of the skull and face, but it typically presents with a more severe craniosynostosis, midface hypoplasia, and syndactyly, which is not mentioned in the patient's history.
**Option C:** This option is not provided.
**Option D:** This option is not provided.
**Clinical Pearl / High-Yield Fact**
Cleidocranial Dysplasia is a rare genetic disorder that affects approximately 1 in 100,000 to 1 in 200,000 individuals. It is characterized by delayed tooth eruption, underdeveloped midface, and characteristic facial features.
**Correct Answer:** .