ORPHA:85442
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Publications
1,028
Trials
0
Interventional, condition-specific
Researchers
0
Distinct authors in sample
Gene link
LHX4
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Short stature-pituitary and cerebellar defects-small sella turcica syndrome is characterised by short stature, anterior pituitary hormone deficiency, small sella turcica, and a hypoplastic anterior hypophysis associated with pointed cerebellar tonsils. It has been described in three generations of a large French kindred. Ectopia of the posterior hypophysis was observed in some patients. The syndrome is transmitted as a dominantly inherited trait and is caused by a germline mutation within the LIM-homeobox transcription factor LHX4 gene (1q25).
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0009880
- MeSH:C567492
- OMIM:262700
- UMLS:C2678408
Additional Mondo synonyms (1)
pituitary hormone deficiency, combined, type 4
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
Definitive — LHX4
- LiteraturePresent
1,028 matched papers (634 in last 10 years) Source
- Phenotype characterisedPresent
9 HPO annotations (e.g. Marked delay in bone age; Pituitary dwarfism; Hypothyroidism) 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 (LHX4).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
9
Associated phenotypes · MONDO:0009880
- Marked delay in bone age
- Pituitary dwarfism
- Hypothyroidism
- Hypoglycemia
- Severe postnatal growth retardation
Showing 5 of 9 — 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?
1,028
1,028 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,028 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).
634 in the last 10 years · low confidence
Phrase hits: 0 · MeSH hits: 0
Who's working on it?
0
Distinct author names in 0 sampled papers.
Who's working on it?
No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.
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.
low 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 61 · after dedupe 59 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 59 · dropped 0 · fetched 2026-07-30
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).
Uncertain / not reviewed (59)
- isrctn·ISRCTN88499808·Recruiting·Inhaled steroid as emergency treatment for patients with steroid dependency
skipped — LLM skipped (--skip-llm)
- ctis·2025-524003-68-00·Authorised·OBINUSS - Safety and efficacy of obinutuzumab in systemic sclerosis: a phase II, randomized, double-blinded versus placebo-controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2026-526804-59-00·Authorised·Real-World Effectiveness of the Adjuvanted RSVPreF3 Vaccine in Adults ≥60 Years: A Pragmatic Randomized Trial (BronquiVal)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523617-29-01·Authorised·Tolerability and efficacy of treating locally advanced Resectable Oral Cancer with neoadjuvant INtratumoral anti-CTLA4 ImmunoTherapy combined with systemic anti-PD-1 (ROCinIT).
skipped — LLM skipped (--skip-llm)
- ctis·2025-525020-99-00·Authorised·PROPHY-SEIN - Evaluation of the effect of antibiotic prophylaxis during lumpectomy for breast cancer: prospective randomised double-blind noninferiority study of placebo vs cefazolin
skipped — LLM skipped (--skip-llm)
- ctis·2025-524442-10-00·Authorised·Achieving viral CLEARance in immunocompromised participants with long-term persistence of SARS-CoV-2 - an open-label randomized trial (CLEAR)
skipped — LLM skipped (--skip-llm)
- ctis·2025-522190-11-01·Authorised·AIEOP-BFM ALL 2025 - International collaborative treatment protocol for children and adolescents with acute lymphoblastic leukemia
skipped — LLM skipped (--skip-llm)
- ctis·2026-526105-15-00·Authorised·A multicenter, Randomized, Double-blind, Placebo-controlled Clinical Trial to Evaluate the Efficacy and Safety of Subcutaneous Immunotherapy (Beltavac®) with Polymerized Allergenic Extract of a Mixture of Dermatophagoides and Blomia tropicalis in Patients with Allergic Rhinitis/rhinoconjunctivitis.
skipped — LLM skipped (--skip-llm)
- ctis·2023-505575-69-01·Authorised·Fight Osteosarcoma Through European Research evolving study platform from diagnosis to relapse (FOSTER evolving study platform)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525790-39-00·Authorised·A study to investigate the repeat-dose pharmacokinetics of a combined oral contraceptive when given alone and in combination with ganfeborole in female participants of non-childbearing potential.
skipped — LLM skipped (--skip-llm)
- ctis·2026-525566-21-00·Authorised, ongoing·A phase IIa, single-arm, single-center, open label, proof-of-concept trial evaluating increased frequency dosing of VCN-01 (zabilugene almadenorepvec) in combination with nab-Paclitaxel/Gemcitabine (GnP) in Patients with Newly-Diagnosed Metastatic Pancreatic Cancer (VIRAGE2)
skipped — LLM skipped (--skip-llm)
- ctis·2026-526113-28-00·Authorised·Prospective, multicenter, randomized study on combined LT4 + LT3 therapy versus LT4 in the control of TSH in patients with advanced thyroid cancer treated with tyrosine kinase inhibitors.
skipped — LLM skipped (--skip-llm)
- ctis·2025-523305-15-00·Authorised·THERIPEX - A phase I/II open label non-randomized study, monocentric, single-arm, evaluating Safety and Efficacy of induced T-CD4 Treg by LV vector transduction expressing the FoxP3 cDNA in patients with IPEX syndrom
skipped — LLM skipped (--skip-llm)
- ctis·2025-522643-18-00·Authorised, recruiting·A Phase 3, Randomized, Placebo-Controlled Study of Adjuvant Intismeran Autogene Plus Subcutaneous Pembrolizumab and Berahyaluronidase Alfa (MK-3475A) or Intismeran Autogene Monotherapy Versus Placebo in Participants With Completely Resected High-Risk Stage I Non-Small Cell Lung Cancer (INTerpath-014)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523616-36-00·Authorised·Exploratory study evaluating the relevance of [68Ga]Ga-FAPI-46 for staging and identifying progressing patients with transthyretin cardiac amyloidosis
skipped — LLM skipped (--skip-llm)
- ctis·2025-522038-29-00·Authorised, recruiting·A Phase 3, Randomized, Double-blind, Placebo- and Active-Comparator-Controlled Study of MK-1084 Plus Durvalumab Versus Placebo Plus Durvalumab in Participants With Locally Advanced, Unresected KRAS G12C-Mutant Non-Small Cell Lung Cancer Without Disease Progression Following Definitive Platinum-Based Chemoradiotherapy (KANDLELIT-015)
skipped — LLM skipped (--skip-llm)
- ctis·2023-509795-42-00·Authorised·TicAgreLor versus placebo to prevent cerebral ISCHemia in anEuRysmal low grade SAH A double blinded randomised controlled study TALISCHER - SAH
skipped — LLM skipped (--skip-llm)
- ctis·2025-523653-34-00·Authorised·Sublingual Birch Immunotherapy for Pollen-associated Food Allergy
skipped — LLM skipped (--skip-llm)
- ctis·2026-525317-31-00·Authorised·Pilot study comparing the efficacy of intra-articular glenohumeral injection combined with suprascapular nerve block versus intra-articular glenohumeral corticosteroid injection in adhesive capsulitis.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524580-21-00·Expired·A prospective, randomized, double-blind, placebo-controlled, multicentre, dose-finding clinical trial with polymerised mannan-conjugated allergoid Dactylis glomerata/Phleum pratense administered subcutaneously to patients with grass pollen-induced allergic rhinitis or rhinoconjunctivitis.
skipped — LLM skipped (--skip-llm)
- ctis·2025-524378-40-00·Authorised·Phase II Clinical Trial of KORTUC (KRC-01) Combined with Radiotherapy for Locally Advanced Rectal Cancer: Towards a New Organ Preservation Approach (K-BOOST)
skipped — LLM skipped (--skip-llm)
- ctis·2025-521982-29-00·Authorised·UNLOCK - EPIBREAST, a phase II study of prifetrastat (PF-07248144), a KAT6 inhibitor, plus fulvestrant for advanced HR+/HER2- breast cancer with biomarkers analysis
skipped — LLM skipped (--skip-llm)
- ctis·2025-523672-23-00·Authorised·A phase 2 trial of BMS-986365 in mCSPC patients with suboptimal PSA-response after 7 months of Androgen Deprivation Therapy (ADT) plus Androgen Receptor Pathway Inhibition (ARPI).
skipped — LLM skipped (--skip-llm)
- ctis·2025-524620-22-00·Authorised, recruiting·A 2-part phase 1/2 open-label trial evaluating the safety, tolerability, pharmacokinetics, pharmacodynamics, and efficacy of ODM-212 in combination with anti-cancer therapy in participants with advanced solid tumours
skipped — LLM skipped (--skip-llm)
- ctis·2025-524140-35-00·Authorised, recruiting·A Phase II Study of Naxitamab Added to Induction Therapy for Subjects with Newly Diagnosed High-Risk Neuroblastoma
skipped — LLM skipped (--skip-llm)
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 Short stature-pituitary and cerebellar defects-small sella turcica 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.
("Short stature-pituitary and cerebellar defects-small sella turcica syndrome" OR "pituitary hormone deficiency, combined, type 4") OR (MESH:"Pituitary Hormone Deficiency, Combined, 4") OR ("LHX4" OR "LHX4 syndrome" OR "LHX4-related")MeSH descriptor terms unioned into the query: Pituitary Hormone Deficiency, Combined, 4
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Short stature-pituitary and cerebellar defects-small sella turcica syndrome" OR "pituitary hormone deficiency, combined, type 4" OR "Pituitary Hormone Deficiency, Combined, 4"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh; with hits: none
Parent literature probe: hypopituitarism (MONDO:0005152) — 21341 hits
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
- Publication count (1028) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T03:02:25.537Z