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Start free with EleplanTibial aplasia-ectrodactyly syndrome
ORPHA:3329Malformation syndrome
Also called 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
What it is
A rare syndrome with limb reduction defects characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Clinical presentation 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.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Antenatal, Infancy, Neonatal
- Inheritance
- Autosomal dominant
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Sometimes5–29%
14- Abnormal fibula morphology
- Abnormality of femur morphology
- Aplasia/Hypoplasia of the ulna
- Brachydactyly
- Femoral bowing
- Fibular hypoplasia
- Finger syndactyly
- Omphalocele
and 6 more in this range
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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