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Aplasia of the phalanges of the 2nd toe

MedGen UID:
869402
•Concept ID:
C4023829
•
Finding
Synonym: Absent 2nd toe bones
 
HPO: HP:0010430

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAplasia of the phalanges of the 2nd toe

Recent clinical studies

Diagnosis

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
Anonychia of all toes with absence of phalangeal bones.
Hatzis J, Soulacos PN
Australas J Dermatol 1994;35(2):83-6. doi: 10.1111/j.1440-0960.1994.tb00903.x. PMID: 7702494

Prognosis

Symphalangism (two phalanges) in the digits of the Japanese foot.
Nakashima T, Hojo T, Suzuki K, Ijichi M
Ann Anat 1995 May;177(3):275-8. doi: 10.1016/S0940-9602(11)80199-8. PMID: 7598223

Clinical prediction guides

A case of symbrachydactyly with oligodactyly.
Seven M, Yuksel A, Ozkilic A
Genet Couns 2001;12(1):77-83. PMID: 11332981
Symphalangism (two phalanges) in the digits of the Japanese foot.
Nakashima T, Hojo T, Suzuki K, Ijichi M
Ann Anat 1995 May;177(3):275-8. doi: 10.1016/S0940-9602(11)80199-8. PMID: 7598223

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