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Postaxial oligodactyly

MedGen UID:
401339
•Concept ID:
C1867927
•
Finding
HPO: HP:0006210

Conditions with this feature

Tukel syndrome
MedGen UID:
332153
•Concept ID:
C1836217
•
Disease or Syndrome
See: Condition Record
Postaxial tetramelic oligodactyly
MedGen UID:
357380
•Concept ID:
C1867924
•
Congenital Abnormality
A rare genetic congenital limb malformation disorder with characteristics of isolated, postaxial oligodactyly in all four extremities. Patients present a consistent pattern of malformation ranging from complete absence of the 5th metacarpals, metatarsals and phalanges to complete absence of the 5th metacarpals and metatarsals, with some residual distal 5th phalanges. There have been no further descriptions in the literature since 1993.
See: Condition Record
Postaxial tetramelic oligodactyly
Tukel syndrome

Recent clinical studies

Etiology

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.
Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin SH, Hennies HC, Nurnberg P, Desnick RJ, Wollnik B
J Med Genet 2005 May;42(5):408-15. doi: 10.1136/jmg.2004.026138. PMID: 15863670Free PMC Article

Diagnosis

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.
Hettiaracchchi D, Bonnard C, Jayawardana SMA, Ng AYJ, Tohari S, Venkatesh B, Reversade B, Singaraja R, Dissanayake VHW
BMC Med Genet 2018 Jul 24;19(1):125. doi: 10.1186/s12881-018-0646-1. PMID: 30041615Free PMC Article
Unusual combination of limb malformations in the same patient: brachydactyly with syndactyly and postaxial polydactyly of the hands and postaxial oligodactyly of the feet.
Ferda Percin E, Yilmaz S
Clin Dysmorphol 2003 Oct;12(4):283-4. doi: 10.1097/00019605-200310000-00016. PMID: 14564221
Variability in the phenotypic expression of fryns syndrome: A report of two sibships.
Ramsing M, Gillessen-Kaesbach G, Holzgreve W, Fritz B, Rehder H
Am J Med Genet 2000 Dec 18;95(5):415-24. doi: 10.1002/1096-8628(20001218)95:5<415::aid-ajmg2>3.0.co;2-j. PMID: 11146459

Therapy

Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.
Gurrieri F, Cammarata M, Avarello RM, Genuardi M, Pomponi MG, Neri G, Giuffrè L
Am J Med Genet 1995 Jan 30;55(3):315-8. doi: 10.1002/ajmg.1320550314. PMID: 7726229

Clinical prediction guides

A new syndrome, congenital extraocular muscle fibrosis with ulnar hand anomalies, maps to chromosome 21qter.
Tukel T, Uzumcu A, Gezer A, Kayserili H, Yuksel-Apak M, Uyguner O, Gultekin SH, Hennies HC, Nurnberg P, Desnick RJ, Wollnik B
J Med Genet 2005 May;42(5):408-15. doi: 10.1136/jmg.2004.026138. PMID: 15863670Free PMC Article
Ulnar ray defect in an infant with a 6q21;7q31.2 translocation: further evidence for the existence of a limb defect gene in 6q21.
Gurrieri F, Cammarata M, Avarello RM, Genuardi M, Pomponi MG, Neri G, Giuffrè L
Am J Med Genet 1995 Jan 30;55(3):315-8. doi: 10.1002/ajmg.1320550314. PMID: 7726229
Robin sequence and oligodactyly in mother and son.
Robinow M, Johnson GF, Apesos J
Am J Med Genet 1986 Oct;25(2):293-7. doi: 10.1002/ajmg.1320250214. PMID: 3777025

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