Aplasia/Hypoplasia of the capital femoral epiphysis

MedGen UID:: 870804
•Concept ID:: C4025261
•: Anatomical Abnormality

Synonyms:	Absent/small end part of innermost thighbone; Absent/underdeveloped end part of innermost thighbone

HPO:	HP:0005003

Definition

Absence or underdevelopment of the proximal epiphysis of the femur. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/Hypoplasia of the capital femoral epiphysis

Abnormality of the skeletal system
- Abnormal skeletal morphology
  - Abnormal appendicular skeleton morphology
    - Abnormal long bone morphology
      - Abnormal epiphysis morphology
        Absent epiphyses
        Aplasia/Hypoplasia of the capital femoral epiphysis
        Hypoplasia of the capital femoral epiphysis

Conditions with this feature

Otospondylomegaepiphyseal dysplasia, autosomal recessive

MedGen UID:: 1790497
•Concept ID:: C5551484
•: Disease or Syndrome

Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural hearing loss, enlarged epiphyses, disproportionate shortness of the limbs, abnormalities in vertebral bodies, and typical facial features (summary by Harel et al., 2005).

See: Condition Record

Otospondylomegaepiphyseal dysplasia, autosomal recessive

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Aplasia/Hypoplasia of the capital femoral epiphysis

Definition

Term Hierarchy

Conditions with this feature

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