Definition

Absence or hypoplasia of toes. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVAplasia/Hypoplasia of toe

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
        Aplasia/Hypoplasia of toe
        Absent toe
        Adactyly
        Aplasia/Hypoplasia of the 2nd toe
        Aplasia/Hypoplasia of the 3rd toe
        Aplasia/Hypoplasia of the 4th toe
        Aplasia/Hypoplasia of the 5th toe
        Aplasia/Hypoplasia of the distal phalanges of the toes
        Aplasia/Hypoplasia of the distal phalanx of the hallux
        Short distal phalanx of toe
        Aplasia/Hypoplasia of the hallux
        Absent hallux
        Short hallux
        Partial absence of toe
        Small toe

Conditions with this feature

Aphalangy-syndactyly-microcephaly syndrome

MedGen UID:: 324958
•Concept ID:: C1838161
•: Disease or Syndrome

An extremely rare malformation syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild intellectual disability.

See: Condition Record

Aphalangy-syndactyly-microcephaly syndrome

Recent clinical studies

Diagnosis

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

Shafeghati Y, Kahrizi K, Najmabadi H, Kuss AW, Ropers HH, Tzschach A
Eur J Pediatr 2010 Dec;169(12):1535-9. Epub 2010 Jul 27 doi: 10.1007/s00431-010-1267-7. PMID: 20661588

Survival of homozygous alpha-thalassemia with aplasia/hypoplasia of phalanges and jejunal atresia.

Lee SY, Li CK, Ling SC, Shiu YK
J Matern Fetal Neonatal Med 2009 Aug;22(8):711-3. doi: 10.1080/14767050902994556. PMID: 19521930

See all (2)

Therapy

Survival of homozygous alpha-thalassemia with aplasia/hypoplasia of phalanges and jejunal atresia.

Lee SY, Li CK, Ling SC, Shiu YK
J Matern Fetal Neonatal Med 2009 Aug;22(8):711-3. doi: 10.1080/14767050902994556. PMID: 19521930

See all (1)

Clinical prediction guides

Brachyphalangy, polydactyly and tibial aplasia/hypoplasia syndrome (OMIM 609945): case report and review of the literature.

Shafeghati Y, Kahrizi K, Najmabadi H, Kuss AW, Ropers HH, Tzschach A
Eur J Pediatr 2010 Dec;169(12):1535-9. Epub 2010 Jul 27 doi: 10.1007/s00431-010-1267-7. PMID: 20661588

Ectrodactyly and absence (hypoplasia) of the tibia: are there dominant and recessive types?

Majewski E, Goecke T, Meinecke P
Am J Med Genet 1996 May 3;63(1):185-9. doi: 10.1002/(SICI)1096-8628(19960503)63:1<185::AID-AJMG32>3.0.CO;2-I. PMID: 8723107

See all (2)

Synonym:	Absent/hypoplastic toes

HPO:	HP:0001991

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Aplasia/Hypoplasia of toe

Definition

Term Hierarchy

Conditions with this feature

Recent clinical studies

Diagnosis

Therapy

Clinical prediction guides

Supplemental Content

Table of contents

Clinical resources

Consumer resources

Reviews

Related information

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