Heart defects-limb shortening syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs) and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.



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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 14

HPO ID Term Frequency
HP:0000774 Narrow chest Very frequent (99-80%)
HP:0000944 Abnormality of the metaphysis Very frequent (99-80%)
HP:0001629 Ventricular septal defect Very frequent (99-80%)
HP:0001631 Atrial septal defect Very frequent (99-80%)
HP:0003312 Abnormal form of the vertebral bodies Very frequent (99-80%)
HP:0003498 Disproportionate short stature Very frequent (99-80%)
HP:0005026 Mesomelic/rhizomelic limb shortening Very frequent (99-80%)
HP:0005616 Accelerated skeletal maturation Very frequent (99-80%)
HP:0000772 Abnormality of the ribs Frequent (79-30%)
HP:0001522 Death in infancy Frequent (79-30%)
HP:0001633 Abnormal mitral valve morphology Frequent (79-30%)
HP:0001702 Abnormal tricuspid valve morphology Frequent (79-30%)
HP:0002808 Kyphosis Frequent (79-30%)
HP:0004414 Abnormality of the pulmonary artery Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID