Heart-hand syndrome type 3

General Information (adopted from Orphanet):

Synonyms, Signs: Cardiomelic syndrome type 3
Heart-limb syndrome type 3
Heart-hand syndrome, Spanish type
Atriodigital dysplasia type 3
Number of Symptoms 18
OrphanetNr: 1342
OMIM Id: 140450
ICD-10: Q87.2
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
7450756 [IBIS]
Age of onset: Infancy
Childhood
7450756 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic cardiac rhythm disease
 -Rare cardiac disease
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Heart-hand syndrome
 -Rare bone disease
 -Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis

Comment:

Heart-hand syndrome type III is characterized by cardiac conduction problems and shortening of the middle phalanges (PMID:21812358).

Symptom Information: Sort by abundance 

1
 (HPO:0002817) Abnormality of the upper limb Very frequent [IBIS] 7867169 IBIS 25 / 7739
2
 (HPO:0009577) Short middle phalanx of the 2nd finger 7450756 IBIS 4 / 7739
3
 (HPO:0001156) Brachydactyly syndrome 7450756 IBIS 180 / 7739
4
 (HPO:0009464) Ulnar deviation of the 2nd finger 7450756 IBIS 6 / 7739
5
 (HPO:0004220) Short middle phalanx of the 5th finger 7450756 IBIS 17 / 7739
6
 (HPO:0001760) Abnormality of the foot Occasional [IBIS] 7450756 IBIS 96 / 7739
7
 (HPO:0001167) Abnormality of finger Frequent [IBIS] Very frequent [Orphanet] 7450756 IBIS 29 / 7739
8
 (HPO:0005819) Short middle phalanx of finger 21812358 IBIS 28 / 7739
9
 (HPO:0001626) Abnormality of the cardiovascular system 7450756 IBIS 73 / 7739
10
 (HPO:0011704) Sick sinus syndrome 7450756 IBIS 6 / 7739
11
 (HPO:0011675) Arrhythmia Very frequent [IBIS] 21812358 IBIS 226 / 7739
12
 (HPO:0011025) Abnormality of cardiovascular system physiology Very frequent [IBIS] Very frequent [Orphanet] 7450756 IBIS 41 / 7739
13
 (OMIM) Short middle phalanges, esp. index and fifth fingers 7450756 IBIS 1 / 7739
14
 (MedDRA:10000032) Cardiac conduction disorders 21812358 IBIS 5 / 7739
15
 (MedDRA:10012118) Defect conduction intraventricular 7450756 IBIS 1 / 7739
16
 (MedDRA:10072883) Brachydactyly 7450756 IBIS 153 / 7739
17
 (HPO:0006494) Aplasia/Hypoplasia involving bones of the feet Frequent [Orphanet] 7450756 IBIS 69 / 7739
18
 (HPO:0001163) Abnormality of the metacarpal bones Very frequent [Orphanet] 21812358 IBIS 149 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: