acrofacial dysostosis Rodriguez type

Acrofacial dysostosis Rodriguez type is a rare condition characterized by multiple malformations. It mainly affects the face and limbs, with a severe mandibulofacial defect including extremely small lower jaw (microretrognathism) and a cleft palate. These facial features are part of a broader pattern of complex malformations that impact various parts of the body, such as the central nervous system, heart, lungs, and urogenital tract. In addition to the facial abnormalities, people with this condition have very severe limb reduction defects. These include missing or underdeveloped bones in the arms and legs, and additional defects in the shoulder, pelvis, and hands. The overall range of malformations makes this a serious, life-threatening condition, often leading to death in utero or shortly after birth.

Common features include a severe mandibulofacial defect with very small lower jaw and a cleft palate, which leads to breathing difficulties. There are also severe limb reductions, such as underdeveloped or missing bones in the arms and legs, missing thumbs, and other hand anomalies. In addition, malformations of the brain (such as absence of the corpus callosum), heart, lungs, and parts of the urogenital tract are noted.

The condition is inherited in an autosomal recessive pattern, meaning that a child must receive a copy of the altered gene from each parent. No specific gene has been identified. This genetic pattern is common in several rare malformative conditions, making it important for families with a history of such conditions to understand the risks.

Information about treatment is currently limited for this condition.

The prognosis for acrofacial dysostosis Rodriguez type is poor. The severe facial and limb abnormalities, along with other organ malformations, generally lead to death in utero or shortly after birth.

Information about current research on acrofacial dysostosis Rodriguez type is currently limited for this condition.