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Aplasia/Hypoplasia of the mandible

MedGen UID:: 870156
•Concept ID:: C4024589
•: Anatomical Abnormality; Finding

HPO:	HP:0009118

Definition

Absence or underdevelopment of the mandible. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/Hypoplasia of the mandible

Abnormality of the musculoskeletal system
- 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
        Micrognathia
        Hypoplasia of mandible relative to maxilla
        Microretrognathia

Recent clinical studies

Diagnosis

Hemifacial microsomia (oculo-auriculo-vertebral spectrum) in an individual from the Teramo Sant'Anna archaeological site (7th-12th centuries of the Common Era, Italy).

Viciano J, D'Anastasio R
Arch Oral Biol 2018 Jul;91:23-34. Epub 2018 Apr 6 doi: 10.1016/j.archoralbio.2018.04.004. PMID: 29653314

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Clinical resources

ClinicalTrials.gov

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Aplasia/Hypoplasia of the mandible
Aplasia/Hypoplasia of the mandible

MedGen
C4024589[conceptid] (1)
MedGen
Homologene neighbors for GEO Profiles (Select 117752478) (0)
GEO Profiles
Profile neighbors for GEO Profiles (Select 117744158) (199)
GEO Profiles
Gene Links for GEO Profiles (Select 122160617) (2)
Gene

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