Tibial aplasia-ectrodactyly syndrome(SHFLD)

MedGen UID:: 1639878
•Concept ID:: C4551989
•: Disease or Syndrome

Synonyms:	Aplasia of tibia with ectrodactyly; Cleft hand absent tibia; Cleft Hand And Absent Tibia; Ectrodactyly with aplasia of long bones; Split-hand-foot malformation with long bone deficiency; Tibial aplasia with split-hand-split-foot deformity
SNOMED CT:	Tibial aplasia and ectrodactyly syndrome (715531000); Aplasia of tibia with split hand split foot deformity (715531000); Tibial hemimelia ectrodactyly syndrome (715531000); Split hand foot malformation with long bone deficiency (715531000)
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0018050
OMIM®:	119100
Orphanet:	ORPHA3329

Definition

A rare condition with features of congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. The expression of the phenotype is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears. The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance. [from SNOMEDCT_US]