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Related Concept Videos

Sutures of the Skull01:22

Sutures of the Skull

The human skull is composed of several bones that come together to protect the brain and support the structures of the face. The junctions where these bones meet are called sutures.
Sutures are immobile joints between adjacent bones of the skull. The narrow gap between the bones is filled with dense, fibrous connective tissue that unites the bones. The long sutures located between the skull bones are not straight but instead follow irregular, tightly twisting paths. These twisting lines tightly...
Structural Joints: Fibrous Joints01:03

Structural Joints: Fibrous Joints

Fibrous joints are a type of joint where the bones are connected by fibrous connective tissue. These joints provide stability and minimal to no movement between the articulating bones. There are three types of fibrous joints.
Suture
All the bones of the skull, except for the mandible, are joined to each other by a fibrous joint called a suture. The fibrous connective tissue found at a suture strongly unites the adjacent skull bones and thus helps to protect the brain and form the face. In...
The Hyoid Bone01:12

The Hyoid Bone

The hyoid bone is a small U-shaped bone located in the upper neck at the level of the inferior mandible, with its tips pointing posteriorly. It does not directly articulate with any other bone in the body. The hyoid acts as the attachment site for the tongue, the larynx, and the pharynx. It is held in position by a series of small muscles attached from above or below. These muscles help to move the hyoid up/down or forward/back in coordination with movements of the tongue, larynx, and pharynx...
Bone Formation by Intramembranous Ossification01:29

Bone Formation by Intramembranous Ossification

Intramembranous ossification is one of the two processes involved in the development of bones within an embryo. The flat bones of the face, most of the cranial bones, and the clavicles are formed via this process. During intramembranous ossification, the bones develop directly from sheets of undifferentiated mesenchymal connective tissue.
The process begins when mesenchymal cells in the embryonic skeleton gather together and differentiate into osteogenic cells, which then develop into...
Muscles for Facial Expressions01:14

Muscles for Facial Expressions

The craniofacial muscles are a collection of approximately 20 thin skeletal muscles situated beneath the skin of the face and scalp. These muscles, primarily responsible for the vast array of human facial expressions, originate from the bones or fibrous structures of the skull and extend outwards to connect with the skin. While most skeletal muscles in the body are enveloped in thick fascia, facial muscles generally have a more delicate fascial covering, with the buccinator muscle being a...
Overview of the Skull01:08

Overview of the Skull

The cranium (skull) is the skeletal structure of the head that supports the face and protects the brain. It is subdivided into the facial bones and the brain case, or cranial vault. The facial bones underlie the facial structures, form the nasal cavity, enclose the eyeballs, and support the teeth of the upper and lower jaws.
The cranial vault surrounds and protects the brain and houses the middle and inner ear structures. This cavity is bounded superiorly by the rounded top of the skull, which...

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Related Experiment Video

Updated: May 12, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
08:03

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Published on: November 4, 2025

Human facial dysostoses.

D Wieczorek1

  • 1Institut für Humangenetik, Universitätsklinikum Essen, Universität Duisburg-Essen, Essen, Germany. dagmar.wieczorek@uni-due.de

Clinical Genetics
|April 10, 2013
PubMed
Summary
This summary is machine-generated.

Mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs) are related to neural crest cell migration issues. This review covers their shared and distinct craniofacial and limb anomalies.

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Area of Science:

  • Genetics
  • Developmental Biology
  • Craniofacial Anomalies

Background:

  • Human facial dysostoses are classified into mandibulofacial dysostoses (MFDs) and acrofacial dysostoses (AFDs).
  • Both conditions share craniofacial phenotypes, suggesting a common origin in abnormal neural crest cell migration.
  • Shared anomalies include palpebral fissure slant, eyelid coloboma, zygomatic hypoplasia, micrognathia, and microtia.

Purpose of the Study:

  • To review and categorize mandibulofacial dysostoses and acrofacial dysostoses.
  • To highlight the shared and distinct clinical features of MFDs and AFDs.
  • To provide an overview of known and described AFD subtypes.

Main Methods:

  • Literature review of published cases of MFDs and AFDs.
  • Comparative analysis of craniofacial and limb anomalies.
  • Classification of limb anomalies in AFDs.

Main Results:

  • MFDs and AFDs exhibit similar craniofacial features but differ in associated limb anomalies (AFDs) and additional clinical features (MFDs).
  • AFDs can present with pre-axial, post-axial, or other limb malformations, with Nager and Miller syndromes as key examples.
  • MFDs may present with intellectual disability, microcephaly, chest deformities, and other features.

Conclusions:

  • Understanding the spectrum of MFDs and AFDs is crucial for diagnosis and management.
  • Further research is needed to elucidate the molecular genetic bases of various AFDs.
  • This review consolidates current knowledge on these complex developmental disorders.