All are true about diaphyseal Aclasia except
**Diaphyseal Aclasia Explanation**
**Core Concept**
Diaphyseal aclasia, also known as congenital diaphyseal aclasia or Adams-Oliver syndrome, is a rare genetic disorder characterized by skeletal dysplasia and aplasia of the diaphysis of long bones. This condition is associated with mutations in the GJA1 gene, which encodes a gap junction protein crucial for bone development.
**Why the Correct Answer is Right**
The condition is typically inherited in an autosomal dominant pattern, meaning a single copy of the mutated gene is enough to cause the condition. Diaphyseal aclasia is characterized by the presence of focal aplasia or hypoplasia of the diaphysis of long bones, leading to limb deformities and short stature. The condition often presents with additional features such as aplasia cutis congenita, scalp defects, and other skeletal abnormalities.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because diaphyseal aclasia is not typically associated with craniofacial dysmorphism, although some cases may present with mild facial features.
**Option B:** This option is incorrect because the condition is not primarily characterized by osteogenesis imperfecta-like features, which involve blue sclerae and multiple fractures.
**Option C:** This option is incorrect because diaphyseal aclasia is not typically associated with neurodevelopmental delays or intellectual disability, although some cases may present with mild developmental delays.
**Clinical Pearl / High-Yield Fact**
It is essential to recognize that diaphyseal aclasia can present with a wide range of manifestations, and a high index of suspicion is required for diagnosis. Early recognition and genetic counseling are crucial for families affected by this condition.
**Correct Answer: D.**