Table 2.

Mandibulofacial Dysostosis with Microcephaly: Frequency of Select Features

Feature% of Persons
w/Feature		Comment
Facial
structural
differences 		Malar hypoplasia92%
Micrognathia / Mandibular
hypoplasia		93%
Cleft palate43%
Choanal atresia30%
Facial asymmetry58%
Microcephaly 87%Occipitofrontal circumference ≥2 SD below mean
Developmental delay / Intellectual disability 97%Severity varies (may be mild, moderate, or severe; critical sequelae (e.g. neonatal airway compromise, cardiac anomalies) may affect developmental outcome.
Ear
malformations
& hearing loss 		Microtia / Dysplastic pinna(e)97%
Auditory canal atresia or stenosis68%
Preauricular tag50%
Hearing loss83%
Other findings Cardiac anomalies35%Typically atrial &/or ventricular septal defect
Thumb anomalies34%Typically proximally placed; uncommonly, preaxial polydactyly or hypoplasia
Esophageal atresia /
Tracheoesophageal fistula		33%
Short stature30%
Spine anomalies28%Incl scoliosis, kyphosis, hemivertebrae, & cervical segmentation anomalies
Epilepsy26%

From: Mandibulofacial Dysostosis with Microcephaly

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