Tag: congenital disorders

  • Syndactylic Oxycephaly

    Syndactylic Oxycephaly: Definition and Description of Syndactylic Oxycephaly: Syndactylic Oxycephaly is a rare congenital condition characterized by the fusion of the fingers and/or toes (syndactyly) alongside craniosynostosis, which is the premature fusion of skull bones. This condition can result in distinctive facial features and abnormalities in head shape due to altered cranial and facial growth.…

  • Familial Alobar Holoprosencephaly

    Familial Alobar Holoprosencephaly Definition and Description of Familial Alobar Holoprosencephaly Familial Alobar Holoprosencephaly is a severe form of holoprosencephaly—a brain malformation that occurs when the forebrain does not properly separate into the two hemispheres. This condition is characterized by significant developmental issues which stem from improper formation of the brain and facial features. Individuals suffering…

  • Classic Type Pfeiffer Syndrome

    Classic Type Pfeiffer Syndrome Definition and Description of Classic Type Pfeiffer Syndrome Classic Type Pfeiffer Syndrome is a congenital disorder characterized by the premature fusion of certain cranial sutures, leading to an abnormal head shape and facial features. This condition falls under the category of syndromic craniosynostosis and primarily affects the skull, resulting in a…

  • ACC — Aplasia Cutis Congenita

    ACC — Aplasia Cutis Congenita Definition and Description of ACC — Aplasia Cutis Congenita Aplasia Cutis Congenita (ACC) is a rare congenital skin condition characterized by the absence of skin in localized or generalized areas of the body. This condition can manifest at birth and varies significantly in severity. The missing skin can occur on…