familial scaphocephaly syndrome, McGillivray type
MONDO:0012307
Familial scaphocephaly syndrome, McGillivray type is a rare newly described craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, severe maxillary retrusion, and mild intellectual disability.
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McGillivray syndrome
McGillivray syndrome, also known as Familial scaphocephaly syndrome, is a rare syndrome characterized mainly by heart defects, skull and facial abnormalities and ambiguous genitalia. The symptoms of this syndrome are ventricular septal defect, patent ductus arteriosus, small jaw, undescended testes, and webbed fingers. Beside to these symptoms there are more symptoms which is related with bone structure and misshape. McGillivray syndrome is a birth defect in which one or more of the joints between the bones of the baby's skull close prematurely, before the baby's brain is fully formed. When the baby has craniosynostosis, the brain cannot grow in its natural shape and the head is misshapen. It can affect one or more of the joints in the baby's skull. In some cases, craniosynostosis is associated with an underlying brain abnormality that prevents the brain from growing properly. Treating McGillivray usually involves surgery to separate the fused bones. If there is no underlying brain abnormality, the surgery allows the baby's brain to grow and develop in adequate space.
Background only. Canonical identity remains MONDO; clinical-trial relationships come from ClinicalTrials.gov.Drugs being studied
Disease identity and terminology: MONDO. Trial relationships: ClinicalTrials.gov.