The following Conditions are related to Craniofacial malformations

Select a specific condition below to view its details.

  • Antley bixler syndrome

    Antley-Bixler syndrome is typically characterized by structural changes of the skull, bones of the face and other skeletal abnormalities. In most affected infants, there is premature closure of the joints (sutures) between different portions of the skull (craniosynostosis) Additional craniofacial abnormalities may include a large, prominent forehead (frontal bossing), underdeveloped middle regions of the face (midfacial hypoplasia); a large no  Read More

  • Bowen hutterite syndrome

    Bowen Hutterite syndrome is primarily characterized by distinctive malformations of the head and facial (craniofacial) area as well as additional skeletal, genital, kidney (renal), and/or brain abnormalities. In most instances, there are abnormal growth delays before birth (intrauterine growth retardation), resulting in a low birth weight. In addition, in some cases, the fetus may be in a breech presentation, meaning that the buttocks  Read More

  • Cleidocranial dysostosis

    The most prominent feature of cleidocranial dysplasia is a premature closure of the two soft spots on the head (fontanels) and the fibrous joints where bones of the skull meet (sutures) causing abnormal development of the skull. Facial features typically include a prominent forehead, unusually wide face, prominent chin, small upper jaw (maxillary hypoplasia) and bulging of the skull cap. Narrow drooping shoulders caused by complete or partial  Read More

  • Three m syndrome

    Three M syndrome is an extremely rare inherited disorder characterized by low birth weight, delayed bone age, and short stature; characteristic malformations of the head and facial (craniofacial) area; and/or finger (digital) and/or skeletal malformations. In most cases, infants with Three M syndrome are unusually small and have a low birth weight despite being carried to term. This is due to growth delays during fetal development (int  Read More