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Heart defects-limb shortening syndrome

MedGen UID:
349142
•Concept ID:
C1859327
•
Disease or Syndrome
Synonyms: Cardioskeletal syndrome Kuwaiti type; Heart defects and limb shortening
SNOMED CT: Heart defect and limb shortening syndrome (721009008); Cardioskeletal syndrome Kuwaiti type (721009008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0008917
OMIM®: 212135
Orphanet: ORPHA1354

Definition

Heart defects limb shortening is an association disorder combining congenital heart malformation and skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs). It has been described only once in the literature, in two male siblings from Kuwaiti first cousins. The clinical and radiological features of these patients were reported as a distinct cardio-skeletal syndrome. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHeart defects-limb shortening syndrome
Follow this link to review classifications for Heart defects-limb shortening syndrome in Orphanet.

Recent clinical studies

Etiology

Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.
Dotta L, Notarangelo LD, Moratto D, Kumar R, Porta F, Soresina A, Lougaris V, Plebani A, Smith CIE, Norlin AC, Gòmez Raccio AC, Bubanska E, Bertolini P, Amendola G, Visentini M, Fiorilli M, Venuti A, Badolato R
J Allergy Clin Immunol Pract 2019 May-Jun;7(5):1568-1577. Epub 2019 Feb 2 doi: 10.1016/j.jaip.2019.01.045. PMID: 30716504

Diagnosis

Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.
Dotta L, Notarangelo LD, Moratto D, Kumar R, Porta F, Soresina A, Lougaris V, Plebani A, Smith CIE, Norlin AC, Gòmez Raccio AC, Bubanska E, Bertolini P, Amendola G, Visentini M, Fiorilli M, Venuti A, Badolato R
J Allergy Clin Immunol Pract 2019 May-Jun;7(5):1568-1577. Epub 2019 Feb 2 doi: 10.1016/j.jaip.2019.01.045. PMID: 30716504

Therapy

Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.
Dotta L, Notarangelo LD, Moratto D, Kumar R, Porta F, Soresina A, Lougaris V, Plebani A, Smith CIE, Norlin AC, Gòmez Raccio AC, Bubanska E, Bertolini P, Amendola G, Visentini M, Fiorilli M, Venuti A, Badolato R
J Allergy Clin Immunol Pract 2019 May-Jun;7(5):1568-1577. Epub 2019 Feb 2 doi: 10.1016/j.jaip.2019.01.045. PMID: 30716504

Clinical prediction guides

Long-Term Outcome of WHIM Syndrome in 18 Patients: High Risk of Lung Disease and HPV-Related Malignancies.
Dotta L, Notarangelo LD, Moratto D, Kumar R, Porta F, Soresina A, Lougaris V, Plebani A, Smith CIE, Norlin AC, Gòmez Raccio AC, Bubanska E, Bertolini P, Amendola G, Visentini M, Fiorilli M, Venuti A, Badolato R
J Allergy Clin Immunol Pract 2019 May-Jun;7(5):1568-1577. Epub 2019 Feb 2 doi: 10.1016/j.jaip.2019.01.045. PMID: 30716504

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