Limb transversal defect-cardiac anomaly syndrome

MedGen UID:: 419705
•Concept ID:: C2931047
•: Disease or Syndrome

Synonyms:	Hecht Scott syndrome; Limb deficiency-heart malformation syndrome; Terminal transverse defects of the limbs associated with congenital heart malformations
SNOMED CT:	Hecht Scott syndrome (783156008)

Monarch Initiative:	MONDO:0016641
Orphanet:	ORPHA2492

Definition

A rare, genetic, congenital limb malformation syndrome characterized by unilateral or bilateral fibular aplasia/hypoplasia, tibial campomelia, and lower limb oligosyndactyly involving the lateral rays. Upper limb oligosyndactyly and cleft lip/palate may also be associated. [from ORDO]

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Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLimb transversal defect-cardiac anomaly syndrome

Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
- Limb transversal defect-cardiac anomaly syndrome

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Limb transversal defect-cardiac anomaly syndrome

Definition

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