Orphanet: Tibial aplasia ectrodactyly syndrome

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Tibial aplasia-ectrodactyly syndrome

ORPHA:3329

Classification level: Disorder

Synonym(s):
- Aplasia of tibia with split-hand/split-foot deformity
- SHFLD syndrome
- SHFM associated with aplasia of long bones
- Split hand/foot malformation with long bone deficiency
- Split-hand/foot malformation associated with aplasia of long bones
- TH-SHFM
- Tibial hemimelia with split hand/foot malformation
- Tibial hemimelia-ectrodactyly syndrome
Prevalence: 1-9 / 1 000 000
Inheritance: Autosomal dominant
Age of onset: Infancy, Neonatal
ICD-10: Q73.8
OMIM: 119100 610685 612576
UMLS: C1861553
MeSH: -
GARD: 1369
MedDRA: -

Summary

Epidemiology

The incidence is estimated to be approximately 1 in 1,000,000 live births.

Clinical description

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.

Etiology

Two susceptibility loci at 1q42.2-q43 and 6q14.1 have been identified, leading to the hypothesis that this syndrome fits the model of digenic inheritance.

Differential diagnosis

Overlap with the Gollop-Wolfgang syndrome (see this term) has been described.

Genetic counseling

The syndrome is generally inherited in an autosomal dominant manner with reduced penetrance. Autosomal recessive inheritance has also been proposed in some families.

- Last update: May 2008

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