Abnormality of the phalanges of the 5th toe

MedGen UID:: 869465
•Concept ID:: C4023892
•: Anatomical Abnormality

Synonyms:	Abnormality of the little toe bones; Abnormality of the pinkie toe bones; Abnormality of the pinky toe bones

HPO:	HP:0010342

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAbnormality of the phalanges of the 5th toe

Abnormality of limbs
- Abnormality of limb bone
  - Abnormal limb bone morphology
    - Abnormal digit morphology
      - Abnormal toe morphology
        Abnormal fifth toe morphology
        Abnormality of the phalanges of the 5th toe
        Abnormal morphology of the proximal phalanx of the 5th toe
        Aplasia/hypoplasia of the proximal phalanx of the 5th toe
        Short proximal phalanx of the 5th toe
        Broad proximal phalanx of the 5th toe
        Curved proximal phalanx of the 5th toe
        Duplication of the proximal phalanx of the 5th toe
        Complete duplication of the proximal phalanx of the 5th toe
        Partial duplication of the proximal phalanx of the 5th toe
        Abnormality of the middle phalanx of the 5th toe
        Aplasia/Hypoplasia of the middle phalanx of the 5th toe
        Short middle phalanx of the 5th toe
        Broad middle phalanx of the 5th toe
        Curved middle phalanx of the 5th toe
        Duplication of the middle phalanx of the 5th toe
        Complete duplication of the middle phalanx of the 5th toe
        Partial duplication of the middle phalanx of the 5th toe
        Aplasia/Hypoplasia of the phalanges of the 5th toe
        Broad phalanges of the 5th toe
        Bullet-shaped 5th toe phalanx
        Bullet-shaped distal phalanx of the 5th toe
        Bullet-shaped middle phalanx of the 5th toe
        Bullet-shaped proximal phalanx of the 5th toe
        Curved 5th toe phalanx
        Duplication of the phalanges of the 5th toe
        Osteolytic defects of the phalanges of the 5th toe
        Osteolytic defects of the distal phalanx of the 5th toe
        Osteolytic defects of the middle phalanx of the 5th toe
        Osteolytic defects of the proximal phalanx of the 5th toe
        Triangular shaped phalanges of the 5th toe
        Triangular shaped distal phalanx of the 5th toe

Recent clinical studies

Diagnosis

How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?

Ravel A, Chouery E, Stora S, Jalkh N, Villard L, Temtamy S, Mégarbané A
Am J Med Genet A 2011 Apr;155A(4):880-4. Epub 2011 Mar 17 doi: 10.1002/ajmg.a.33879. PMID: 21416592

Albright's hereditary osteodystrophy (pseudohypoparathyroidism type Ia): clinical case with a novel mutation of GNAS1.

Garavelli L, Pedori S, Zanacca C, Caselli G, Loiodice A, Mantovani G, Ammenti A, Virdis R, Banchini G
Acta Biomed 2005 Apr;76(1):45-8. PMID: 16116826

A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities.

Mégarbané A, Rassi S, Chouery E, Delague V, Perez de Nanclares Leal G, Tabet M, Castaño L, Loiselet J
Am J Med Genet A 2003 Jul 15;120A(2):276-82. doi: 10.1002/ajmg.a.20077. PMID: 12833414

Two sisters with growth failure, microcephaly, peculiar facies and apical dystrophy: the presentation of brachymorphism-onychodysplasia-dysphalangism syndrome?

Ounap K, Justus I, Lipping-Sitska M
Clin Dysmorphol 1998 Jan;7(1):45-50. PMID: 9546830

Infantile convulsions: transient infantile hypocalcemia associated with skeletal deformities.

van der Horst JL, Hölscher JF
Acta Paediatr Scand 1977 May;66(3):389-92. doi: 10.1111/j.1651-2227.1977.tb07913.x. PMID: 194459

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