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Short distal phalanx of hallux

MedGen UID:
866978
Concept ID:
C4021335
Anatomical Abnormality
Synonym: Short distal phalanges of halluces
 
HPO: HP:0010103

Definition

Underdevelopment (hypoplasia) of the distal phalanx of big toe. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort distal phalanx of hallux

Conditions with this feature

Nephrosis-deafness-urinary tract-digital malformations syndrome
MedGen UID:
340568
Concept ID:
C1850552
Disease or Syndrome
A rare, genetic, multiple congenital anomalies syndrome characterized by urinary tract anomalies, nephrosis, conductive deafness, and digital malformations, including short and bifid distal phalanges of thumbs and big toes. There have been no further descriptions in the literature since 1962.

Recent clinical studies

Etiology

Ronconi P, Martinelli N, Cancilleri F, Marinozzi A, Marineo G, Denaro V
Foot Ankle Int 2011 Feb;32(2):148-52. doi: 10.3113/FAI.2011.0148. PMID: 21288413

Diagnosis

Harrison RJ, Pitcher JD, Mizel MS, Temple HT, Scully SP
Foot Ankle Int 2005 Nov;26(11):937-41. doi: 10.1177/107110070502601107. PMID: 16309607

Therapy

Ronconi P, Martinelli N, Cancilleri F, Marinozzi A, Marineo G, Denaro V
Foot Ankle Int 2011 Feb;32(2):148-52. doi: 10.3113/FAI.2011.0148. PMID: 21288413

Prognosis

Al-Yahyaee SA, Al-Kindi MN, Habbal O, Kumar DS
Am J Med Genet A 2003 Aug 15;121A(1):9-14. doi: 10.1002/ajmg.a.20256. PMID: 12900894

Clinical prediction guides

Ronconi P, Martinelli N, Cancilleri F, Marinozzi A, Marineo G, Denaro V
Foot Ankle Int 2011 Feb;32(2):148-52. doi: 10.3113/FAI.2011.0148. PMID: 21288413
Harrison RJ, Pitcher JD, Mizel MS, Temple HT, Scully SP
Foot Ankle Int 2005 Nov;26(11):937-41. doi: 10.1177/107110070502601107. PMID: 16309607
Al-Yahyaee SA, Al-Kindi MN, Habbal O, Kumar DS
Am J Med Genet A 2003 Aug 15;121A(1):9-14. doi: 10.1002/ajmg.a.20256. PMID: 12900894

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