Aplasia/hypoplasia affecting bones of the axial skeleton

MedGen UID:: 870153
•Concept ID:: C4024585
•: Finding

HPO:	HP:0009122

Definition

Absence (due to failure to form) or underdevelopment of bones of the axial skeleton. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/hypoplasia affecting bones of the axial skeleton

Phenotypic abnormality
- 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 involving the sinuses
        Absent/hypoplastic paranasal sinuses
        Aplasia/Hypoplasia of the frontal sinuses
        Aplasia/Hypoplasia of the calvaria
        Aplasia/Hypoplasia of the mandible
        Mandibular aplasia
        Micrognathia
        Aplasia/Hypoplasia of the maxilla
        Aplasia/Hypoplasia involving bones of the thorax
        Aplasia/Hypoplasia of the clavicles
        Aplastic clavicle
        Congenital pseudoarthrosis of clavicle
        Midclavicular aplasia
        Short clavicles
        Aplasia/Hypoplasia of the ribs
        Missing ribs
        Short ribs
        Aplasia/Hypoplasia of the scapulae
        Hypoplastic scapulae
        Scapular aplasia
        Aplasia/Hypoplasia of the sternum
        Asternia
        Premature sternal synostosis
        Short sternum
        Aplasia/Hypoplasia involving the vertebral column
        Aplasia/Hypoplasia of the sacrum
        Absence of the sacrum
        Absent/hypoplastic coccyx
        Hypoplastic sacrum
        Aplasia/Hypoplasia of the vertebrae
        Absent vertebra
        Vertebral hypoplasia
        Hypoplastic spinal processes
        Odontoid hypoplasia
        Relatively short spine

Recent clinical studies

Diagnosis

A novel form of ischio-vertebral syndrome.

Kaissi AA, Chehida FB, Latos-Bielenska A, Gharbi H, Ghachem MB, Hendaoui L, Kozlowski K
Skeletal Radiol 2007 Jan;36(1):77-81. Epub 2006 Mar 18 doi: 10.1007/s00256-005-0073-1. PMID: 16547749

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Aplasia/hypoplasia affecting bones of the axial skeleton

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Recent activity