Aplasia/hypoplasia involving bones of the lower limbs

MedGen UID:: 870588
•Concept ID:: C4025037
•: Finding

Synonyms:	Absent/small lower limb bones; Absent/underdeveloped lower limb bones

HPO:	HP:0006493

Definition

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

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Aplasia/hypoplasia involving bones of the lower limbs

Phenotypic abnormality
- Abnormality of limbs
  - Aplasia/hypoplasia of the extremities
    - Aplasia/hypoplasia involving bones of the extremities
      - Aplasia/hypoplasia involving bones of the lower limbs
        Aplasia/Hypoplasia involving bones of the feet
        Absent foot
        Aplasia/Hypoplasia of metatarsal bones
        Absent metatarsal bone
        Aplasia/Hypoplasia of the tarsal bones
        Aplasia of the tarsal bones
        Aplasia/Hypoplasia of toe
        Absent toe
        Small toe
        Partial absence of foot
        Short foot
        Aplasia/hypoplasia of the femur
        Femoral aplasia
        Proximal femoral focal deficiency
        Short femur
        Aplasia/Hypoplasia of the fibula
        Fibular aplasia
        Fibular hypoplasia
        Hypoplasia of proximal fibula
        Rudimentary fibula
        Aplasia/Hypoplasia of the tibia
        Rudimentary to absent tibiae
        Short tibia
        Disproportionate shortening of the tibia
        Proximal tibial hypoplasia
        Patella aplasia/hypoplasia
        Patellar aplasia
        Patellar hypoplasia

Recent clinical studies

Etiology

An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation.

Patel RM, Liu D, Gonzaga-Jauregui C, Jhangiani S, Lu JT, Sutton VR, Fernbach SD, Azamian M, White L, Edmond JC, Paysse EA, Belmont JW, Muzny D, Lupski JR, Gibbs RA, Lewis RA, Lee BH, Lalani SR, Campeau PM
Cold Spring Harb Mol Case Stud 2017 Mar;3(2):a000984. doi: 10.1101/mcs.a000984. PMID: 28299356 Free PMC Article

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