ORPHA:1519
SPECC1L-related hypertelorism syndrome
Also known as: Brachycephalofrontonasal dysplasia · Teebi hypertelorism syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
A rare syndrome characterized by hypertelorism, omphalocoele, cleft lip, ear pits, uterine (bicornuate uterus), and more variably by diaphragmatic hernia and heart defects.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
87
87 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=183) is 38.
87 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
58 in the last 10 years · high confidence · 58.7th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (SPECC1L).
GenCC classification: Strong.
Who's working on it?
681
Distinct author names in 87 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.
- 01Saadi I5 papers · 2026
Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS, USA.
Papers in Europe PMC - 02Bhoj EJ4 papers · 2021
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 03Hakonarson H4 papers · 2023
The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 04Li D4 papers · 2023
The Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 05Zackai EH4 papers · 2021
Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 06Goering JP3 papers · 2026
Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS 66160, USA.
Papers in Europe PMC - 07Liao EC3 papers · 2020
Center for Regenerative Medicine, Department of Surgery, Massachusetts General Hospital, Boston, MA, USA.
Papers in Europe PMC - 08Acevedo DS2 papers · 2020
Department of Anatomy and Cell Biology, University of Kansas Medical Center, Kansas City, KS, USA.
Papers in Europe PMC - 09Bjork BC2 papers · 2020
Department of Biochemistry, Midwestern University, Downers Grove, IL, USA.
Papers in Europe PMC - 10Boddaert N2 papers · 2024
INSERM UMR-1163 Institut Imagine, Hôpital Universitaire Necker-Enfants Malades, Paris, France.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"SPECC1L-related hypertelorism syndrome" OR "Brachycephalofrontonasal dysplasia" OR "Teebi hypertelorism syndrome" OR "craniofrontonasal dysplasia, Teebi type"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"SPECC1L-related hypertelorism syndrome" OR "Brachycephalofrontonasal dysplasia" OR "Teebi hypertelorism syndrome" OR "craniofrontonasal dysplasia, Teebi type" OR "SPECC1L"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:145420
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