Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Brachydactyly type A1

Brachydactyly type A1 (BDA1) is a congenital malformation characterized by apparent shortness (or absence) of the middle phalanges of all digits, and occasional fusion with the terminal phalanges.

Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here.

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PMID (PMCID)
30574312	OTHER
	Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1.
	Ho R, McIntyre AD, Kennedy BA, Hegele RA. SAGE Open Med Case Rep. 2018;6:2050313X18818711.
	We describe an Ontario family with mild brachydactyly in which whole-exome sequencing identified a novel variant for brachydactyly type A1 (exon 1, c.285_287dupGAA, p.Glu95_Asn96insLys) in the Indian hedgehog (IHH) gene.