ORPHA:3329
Tibial aplasia-ectrodactyly syndrome
Also known as: 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
Publications
176
61th percentile
Trials
0
Interventional, condition-specific
Researchers
424
Distinct authors in sample
Gene link
BHLHA9
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndrome with limb reduction defects characterized by 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.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018050
- UMLS:C4551989
Additional Mondo synonyms (5)
aplasia of tibia with split-hand/split-foot deformity · split hand/foot malformation with long bone deficiency · split-hand/foot malformation associated with aplasia of long bones · tibial hemimelia with split hand/foot malformation · tibial hemimelia-ectrodactyly syndrome
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
3/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — BHLHA9
- LiteraturePresent
176 matched papers (130 in last 10 years) Source
- Phenotype characterisedPresent
45 HPO annotations (e.g. Absent forearm; Short hallux; Hand monodactyly) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (BHLHA9).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
45
Associated phenotypes · MONDO:0018050
- Absent forearm
- Short hallux
- Hand monodactyly
- Aplasia/Hypoplasia of the ulna
- Aplasia of the 3rd finger
Showing 5 of 45 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
176
176 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
176 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
130 in the last 10 years · high confidence · 61th percentile (publications denominator)
Phrase hits: 59 · MeSH hits: 0
Who's working on it?
424
Distinct author names in 59 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Escande F3 papers · 2019
Laboratoire de Biochimie et Oncologie Moléculaire, CHU Lille, F-59000, Lille, France.
Papers in Europe PMC - 02Jamsheer A3 papers · 2025
Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8, 60-806 Poznan, Poland.
Papers in Europe PMC - 03Petit F3 papers · 2019
Service de Génétique Clinique, Hôpital Jeanne de Flandre, CHRU, Lille, France. florence.petit@chru-lille.fr
Papers in Europe PMC - 04Sowińska-Seidler A3 papers · 2025
Department of Medical Genetics, Poznan University of Medical Sciences, 55 Grunwaldzka Street, Pav. 15, 60-352, Poznan, Poland, asowinskaseidler@gmail.com.
Papers in Europe PMC - 05Al-Ali MT2 papers · 2023
Centre for Arab Genomic Studies, Dubai, United Arab Emirates.
Papers in Europe PMC - 06Andrieux J2 papers · 2014Papers in Europe PMC
- 07
- 08Everman DB2 papers · 2011Papers in Europe PMC
- 09
- 10Kim MJ2 papers · 2023
Diagnomics, Inc., 5795 Kearny Villa Rd., San Diego, CA 92123, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Tibial aplasia-ectrodactyly syndrome — check Associations / patient organisations on that page.
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
("Tibial aplasia-ectrodactyly syndrome" OR "Aplasia of tibia with split-hand/split-foot deformity" OR "Aplasia of the tibia with split-hand/split-foot deformity" OR "SHFLD syndrome" OR "SHFM associated with aplasia of long bones" OR "SHFM associated with aplasia of the long bones" OR "Split hand/foot malformation with long bone deficiency" OR "Split-hand/foot malformation associated with aplasia of long bones" OR "Split-hand/foot malformation associated with aplasia of the long bones" OR "TH-SHFM" OR "Tibial hemimelia with split hand/foot malformation" OR "Tibial hemimelia-ectrodactyly syndrome") OR ("BHLHA9" OR "BHLHA9 syndrome" OR "BHLHA9-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Tibial aplasia-ectrodactyly syndrome" OR "Aplasia of tibia with split-hand/split-foot deformity" OR "Aplasia of the tibia with split-hand/split-foot deformity" OR "SHFLD syndrome" OR "SHFM associated with aplasia of long bones" OR "SHFM associated with aplasia of the long bones" OR "Split hand/foot malformation with long bone deficiency" OR "Split-hand/foot malformation associated with aplasia of long bones" OR "Split-hand/foot malformation associated with aplasia of the long bones" OR "TH-SHFM" OR "Tibial hemimelia with split hand/foot malformation" OR "Tibial hemimelia-ectrodactyly syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T22:54:06.377Z