Mandibular aplasia

MedGen UID:: 672709
•Concept ID:: C0685776
•: Congenital Abnormality

Synonyms:	Absence of lower jaw; Absence of lower jaw bone; Absence of lower jaw bones; Absence of mandible; Absent mandible; Agenesis of mandible; Agenesis of the mandible; Agnathia; Aplasia of the lower jaw bone; Congenital absence of mandible; Failure of development of lower jaw; Failure of development of mandible; Missing lower jaw
SNOMED CT:	Congenital absence of mandible (91896009); Agenesis of mandible (1003566009)

HPO:	HP:0009939

Definition

Absence of the mandible. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVMandibular aplasia

Abnormality of the skeletal system
- Abnormal skeletal morphology
  - Abnormal axial skeleton morphology
    - Aplasia/hypoplasia affecting bones of the axial skeleton
      - Aplasia/Hypoplasia involving bones of the skull
        Aplasia/Hypoplasia of the mandible
        Mandibular aplasia

Conditions with this feature

Agnathia-otocephaly complex

MedGen UID:: 78541
•Concept ID:: C0265242
•: Congenital Abnormality

Agnathia-otocephaly (AGOTC) is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006).

See: Condition Record

Agnathia-otocephaly complex