Postaxial polydactyly type B(PAPB)

MedGen UID:: 357425
•Concept ID:: C1868120
•: Congenital Abnormality

Synonym:	Postaxial Polydactyly, Type B
SNOMED CT:	Postaxial polydactyly type B (715707008)

Monarch Initiative:	MONDO:0019674
OMIM®:	165240; 174200
Orphanet:	ORPHA93335

Definition

In postaxial polydactyly type B the extra digit is rudimentary and poorly developed. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPostaxial polydactyly type B

Non-syndromic postaxial polydactyly
- Postaxial polydactyly type B

Professional guidelines

PubMed

Expanded mutational spectrum of the GLI3 gene substantiates genotype-phenotype correlations.

Jamsheer A, Sowińska A, Trzeciak T, Jamsheer-Bratkowska M, Geppert A, Latos-Bieleńska A
J Appl Genet 2012 Nov;53(4):415-22. Epub 2012 Aug 18 doi: 10.1007/s13353-012-0109-x. PMID: 22903559 Free PMC Article

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Recent clinical studies

Etiology

Local Anesthesia Alone for Postaxial Polydactyly Surgery in Infants.

Bjorklund KA, O'Brien M
Hand (N Y) 2022 Nov;17(6):1286-1291. Epub 2021 Feb 25 doi: 10.1177/1558944721994255. PMID: 33631987 Free PMC Article

Causes of Congenital Malformations.

Toufaily MH, Westgate MN, Lin AE, Holmes LB
Birth Defects Res 2018 Jan;110(2):87-91. doi: 10.1002/bdr2.1105. PMID: 29377643

Polydactyly, postaxial, type B.

Holmes LB, Nasri H, Hunt AT, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):134-141. doi: 10.1002/bdr2.1184. PMID: 29377639

Ulnar polydactyly: long-term outcomes and cost-effectiveness of surgical clip application in the newborn.

Mills JK, Ezaki M, Oishi SN
Clin Pediatr (Phila) 2014 May;53(5):470-3. Epub 2013 Dec 16 doi: 10.1177/0009922813514479. PMID: 24345998

Fetal polydactyly diagnosis during early pregnancy: clinical applications.

Zimmer EZ, Bronshtein M
Am J Obstet Gynecol 2000 Sep;183(3):755-8. doi: 10.1067/mob.2000.106974. PMID: 10992205

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Diagnosis

Causes of Congenital Malformations.

Toufaily MH, Westgate MN, Lin AE, Holmes LB
Birth Defects Res 2018 Jan;110(2):87-91. doi: 10.1002/bdr2.1105. PMID: 29377643

Fetal polydactyly diagnosis during early pregnancy: clinical applications.

Zimmer EZ, Bronshtein M
Am J Obstet Gynecol 2000 Sep;183(3):755-8. doi: 10.1067/mob.2000.106974. PMID: 10992205

Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly. A distinct MCA/MR syndrome?

Fryns JP, Lagae L, Rizzo WB
Clin Dysmorphol 1998 Oct;7(4):275-7. doi: 10.1097/00019605-199810000-00007. PMID: 9823494

Cortical blindness, growth and psychomotor retardation and postaxial polydactyly: a probably distinct autosomal recessive syndrome.

Hernández A, García-Esquivel L, Reynoso MC, Fragoso R, Enríquez-Guerra MA, Nazará Z, Anzar MB, Cantú JM
Clin Genet 1985 Sep;28(3):251-4. doi: 10.1111/j.1399-0004.1985.tb00395.x. PMID: 4064363

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