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Items: 3

1.

Heart-hand syndrome, Slovenian type

A rare autosomal dominant form of heart-hand syndrome, first described in members of a Slovenian family. The syndrome has characteristics of adult onset, progressive cardiac conduction disease, tachyarrhythmias that can lead to sudden death, dilated cardiomyopathy and brachydactyly, with the hands less severely affected than the feet. Muscle weakness and/or myopathic electromyographic findings have been observed in some cases. [from SNOMEDCT_US]

MedGen UID:
341859
Concept ID:
C1857829
Disease or Syndrome
2.

MEGF8-related Carpenter syndrome

Carpenter syndrome-2 (CRPT2) is an autosomal recessive multiple congenital malformation disorder characterized by multisuture craniosynostosis and polysyndactyly of the hands and feet, in association with abnormal left-right patterning and other features, most commonly obesity, umbilical hernia, cryptorchidism, and congenital heart disease (summary by Twigg et al., 2012). For a discussion of genetic heterogeneity of Carpenter syndrome, see 201000. [from OMIM]

MedGen UID:
767161
Concept ID:
C3554247
Disease or Syndrome
3.

Aplasia of the middle phalanx of the hand

Absence of one or more middle phalanx of a finger. [from HPO]

MedGen UID:
349429
Concept ID:
C1862096
Finding

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