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
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
59
42.4th percentile
Trials
0
Interventional, condition-specific
Researchers
424
Distinct authors in sample
Gene link
BHLHA9
Strong
Readiness
2/6
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.”
2/6 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
59 matched papers (28 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
59
59 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=5449) is 41.
59 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
28 in the last 10 years · high confidence · 42.4th 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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
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"
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" OR "BHLHA9"
Recall-expansion terms: BHLHA9
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; 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