U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

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).
 
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]

Clinical features

From HPO
Abnormality of cardiovascular system morphology
MedGen UID:
892473
Concept ID:
C4049796
Congenital Abnormality
Any structural anomaly of the heart and great vessels.
Abnormal heart morphology
MedGen UID:
1002634
Concept ID:
CN323669
Finding
Any structural anomaly of the heart.
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
Skeletal dysplasia
MedGen UID:
98053
Concept ID:
C0410528
Disease or Syndrome
A general term describing features characterized by abnormal development of bones and connective tissues.

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

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

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

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

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

Supplemental Content

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...