Mandibulofacial Dysostosis with Alopecia

Background and History: 

This is a genetically determined malformation syndrome.  It is quite rare.

Clinical Correlations: 

Malformation of the face is the result of incomplete development of bones around the face, jaw, and eyes.  Secondary changes in the skin occur as well.  The external ears are large, low-set, and ‘crumpled’ and the opening of the ear canal is often malformed.  Hearing loss is common.  There may be dimples or tags in from of the ear opening.  The face appears flattened as the sinus of the cheek bone is often not formed.  The lower jaw is small and the result of these bony malformations can lead to crowded teeth.   The primary teeth are slow to erupt while the permanent teeth may be missing.  A cleft palate is common.  Facial asymmetry can occur as the result of the variable involvement of bones on the two sides of the face.

There is a generalized decrease in body hair (alopecia) which includes the eyebrows and eyelashes.  The lower eyelids may not form completely and contain a cleft known as a coloboma.


A single mutation in a pair seems to be responsible for this condition.  However there have not been any families reported in which the mutation has been transmitted.  Therefore, it is reasonable to assume that the responsible mutation occurs de novo in each individual.  An individual who carries the mutation would be expected to pass it to each child with a 50% probability.

Diagnosis and Prognosis: 

This condition should be identifiable at birth based on the combination of malformations.  Since no single anomaly is diagnostic, the correct diagnosis is most likely made collaboratively by pediatricians and geneticists.

No treatment is available for the general disorder but individual malformation such as the lid cleft, the cleft palate, and the dental deformities could be surgically repaired.  Rarely a tracheostomy is required in newborns to relieve airway obstruction.

Additional Information
Autosomal dominant