Heart-hand syndrome type 2

Heart-hand syndrome type 2 is an extremely rare heart-hand syndrome (see this term) described in two families to date, that is characterized by upper limb malformations (brachytelephalangy type D, hypoplastic deltoids, mild shortening of the fourth and fifth metacarpals in some individuals, skeletal anomalies in the humerus, radius, ulnae, and thenar bones) and cardiac arrhythmias (junctional rhythms and atrial fibrillation).

Short distal phalanx of the thumb

Hypoplastic (short) distal phalanx of the thumb.

Total: 1

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PMID (PMCID)
21812358	MALE	Child
	[The "heart-hand" syndrome in a 8-year-old-boy with short stature].
	Petriczko E, Horodnicka-Jozwa A, Prowans P, Biczysko-Mokosa A, Szmit-Domagalska J, Dawid G, Walczak M, Zajaczek S. Wiad Lek. 2011;64(1):15-21.
	"Heart-hand" syndrome type I--HOS is characterised by atrial septal defect and thumb anomaly, type II (Tabatznik syndrome) by short distal phalanx of the thumb, upper limb abnormalities and cardiac arrhythmias, type III by cardiac conduction diseases and shortening of the middle phalanges.