Condition Guide

Craniofacial Australia logo with a gold circle and text.

Saethre-Chotzen Syndrome

Changing Faces, Changing Lives Contents Otherwise known as? Saethre-Chotzen syndrome is also known by the following names: Craniofacial Dysostosis – This term refers to the condition’s primary feature, which involves differences in skull and facial bone development. Craniosynostosis Syndrome, Type 3 – A term highlighting the fusion of cranial sutures (craniosynostosis) seen in the condition.

Saethre-Chotzen Syndrome Read More »

Close-up of a child's face with craniofacial abnormalities related to Goldenhar Syndrome.

Nager Syndrome

Changing Faces, Changing Lives Contents Otherwise known as? Nager syndrome, also known as Nager acrofacial dysostosis, has a few alternative names, including: Nager Acrofacial Dysostosis (NAFD) – The most common alternative name, emphasizing its classification as an acrofacial dysostosis syndrome (a condition affecting the face and limbs). Acrofacial Dysostosis, Nager Type – Highlights that it

Nager Syndrome Read More »

Craniofacial Australia logo with a gold circle and text.

Muenke Syndrome

Changing Faces, Changing Lives Contents Otherwise known as? Muenke syndrome is sometimes also referred to as FGFR3-related craniosynostosis, reflecting the specific change in the FGFR3 gene and the craniosynostosis commonly associated with the condition. However, Muenke syndrome is the preferred and most widely used name because craniosynostosis is only one of the possible features of

Muenke Syndrome Read More »

Craniofacial Australia logo with a teal circle background.

Hemifacial Microsomia

Changing Faces, Changing Lives Contents Otherwise known as? Hemifacial microsomia is part of a broader spectrum of conditions known as craniofacial microsomia, which includes Goldenhar syndrome when additional eye and spinal anomalies are present. Signs & Symptoms Hemifacial microsomia (HFM) is a congenital condition where one side of the face is underdeveloped or smaller than

Hemifacial Microsomia Read More »

Craniofacial Australia logo with blue circle and white text.

Lambdoid Synostosis

Changing Faces, Changing Lives Contents Otherwise known as? Lambdoid synostosis is a type of craniosynostosis where the lambdoid suture (located at the back of the skull) fuses prematurely. It is also known by the following names: Lambdoid craniosynostosis Posterior craniosynostosis (because the lambdoid suture is at the back of the skull) Lambdoid suture synostosis The

Lambdoid Synostosis Read More »

Close-up of a child's face with craniofacial abnormalities related to Goldenhar Syndrome.

Treacher Collins Syndrome

Changing Faces, Changing Lives Contents Otherwise known as? Treacher Collins syndrome is known by a few other names: Treacher Collins-Franceschetti Syndrome – Sometimes used to acknowledge the contributions of Dr. Franceschetti, who helped describe the syndrome alongside Dr. Treacher Collins. Mandibulofacial Dysostosis – This term refers to the characteristic facial differences seen in the syndrome,

Treacher Collins Syndrome Read More »

Craniofacial Australia logo with a teal circle background.

Goldenhar Syndrome

Changing Faces, Changing Lives Contents Otherwise known as? Oculoauriculovertebral spectrum or OAVS Signs & Symptoms Goldenhar syndrome is a rare congenital condition that affects the development of the eyes, ears, and spine. It is considered a craniofacial syndrome, as it often involves differences in the facial structure, particularly on one side of the face. The

Goldenhar Syndrome Read More »

Craniofacial Australia logo with blue circle and white text.

Coronal Synostosis

Changing Faces, Changing Lives Contents Otherwise known as? Coronal synostosis is a type of craniosynostosis in which the coronal suture (the fibrous joint that runs from ear to ear across the top of the skull) fuses prematurely, leading to a different skull and facial shape. While “coronal synostosis” is the most common and widely used

Coronal Synostosis Read More »

Craniofacial Australia logo with a gold circle and text.

Apert Syndrome

Changing Faces, Changing Lives Contents Otherwise known as? Apert syndrome is also known by several other names, although “Apert syndrome” is the most widely recognized. Some alternative terms or descriptions include: Craniofacial dysostosis – This refers to differences in growth of the skull bones, which is a key feature of Apert syndrome. Apert’s syndrome –

Apert Syndrome Read More »

Scroll to Top