Aplasia of the phalanges of the 4th toe

MedGen UID:: 867735
•Concept ID:: C4022124
•: Anatomical Abnormality

Synonym:	Absent bones of the 4th toe

HPO:	HP:0100363

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia of the phalanges of the 4th toe

Abnormal limb bone morphology
- Abnormal digit morphology
  - Abnormal toe morphology
    - Abnormal toe phalanx morphology
      - Aplasia/Hypoplasia of the phalanges of the toes
        Aplasia of the phalanges of the toes
        Aplasia of the phalanges of the 4th toe

Recent clinical studies

Etiology

Extra phenotypic features in a girl with Miller syndrome.

Al Kaissi A, Roetzer KM, Ulz P, Heitzer E, Klaushofer K, Grill F
Clin Dysmorphol 2011 Apr;20(2):66-72. doi: 10.1097/MCD.0b013e3283416701. PMID: 21346561

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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

Extra phenotypic features in a girl with Miller syndrome.

Al Kaissi A, Roetzer KM, Ulz P, Heitzer E, Klaushofer K, Grill F
Clin Dysmorphol 2011 Apr;20(2):66-72. doi: 10.1097/MCD.0b013e3283416701. PMID: 21346561

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

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