Autosomal dominant prognathism

Orpha code: 2964OMIM code: 176700

Definicja

A rare, genetic, developmental defect during embryogenesis disorder characterized by abnormal forward projection of the mandible beyond the standard relation to the cranial base, with lower incisors often overlapping the upper incisors, that is inherited in an autosomal dominant manner. Association with mildly everted lower eyelids, flat malar area, thickened lower lip and craniosynostosis has been reported.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
2964
Kod OMIM
176700
Kod ICD10
K07.1
Kod ICD11
DA0E.1

No additional description.

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