ORPHA:464288
Short stature-brachydactyly-obesity-global developmental delay syndrome
Also known as: SBIDDS
Publications
1,352
Trials
0
Interventional, condition-specific
Researchers
351
Distinct authors in sample
Gene link
PRMT7
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic, multiple anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, , and more variably , obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.
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:0014944
- OMIM:617157
- UMLS:C4310689
Additional Mondo synonyms (1)
short stature, brachydactyly, intellectual developmental disability, and seizures
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 — PRMT7
- LiteraturePresent
1,352 matched papers (1,025 in last 10 years) Source
- Phenotype characterisedPresent
108 HPO annotations (e.g. Thin vermilion border; Depressed nasal ridge; Eczematoid dermatitis) 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 (PRMT7).
GenCC classification: Strong.
Phenotypes (Monarch / HPO)
108
Associated phenotypes · MONDO:0014944
- Thin vermilion border
- Depressed nasal ridge
- Eczematoid dermatitis
- Microcephaly
- Retrognathia
Showing 5 of 108 — 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?
1,352
1,352 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.
1,352 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).
1,025 in the last 10 years · low confidence
Phrase hits: 30 · MeSH hits: 0
Who's working on it?
351
Distinct author names in 30 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.
- 01Girisha KM3 papers · 2023
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 02Barsyte-Lovejoy D2 papers · 2022
Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada.
Papers in Europe PMC - 03Chen T2 papers · 2025
Department of Epigenetics and Molecular Carcinogenesis, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.
Papers in Europe PMC - 04Digilio MC2 papers · 2023
Medical Genetics Department, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy; Genetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.
Papers in Europe PMC - 05Halabelian L2 papers · 2025
Structural Genomics Consortium, University of Toronto, Toronto, ON M5G 1L7, Canada; Department of Pharmacology and Toxicology, University of Toronto, Toronto, ON, Canada; Princess Margaret Cancer Centre, University Health Network, Toronto, ON, Canada.
Papers in Europe PMC - 06Iascone M2 papers · 2023
Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
Papers in Europe PMC - 07Kausthubham N2 papers · 2021
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.
Papers in Europe PMC - 08Li L2 papers · 2019
Center for Reproductive Medicine and Center for Prenatal Diagnosis, The First Hospital, Jilin University, Changchun, Jilin 130021, P.R. China.
Papers in Europe PMC - 09Platzer K2 papers · 2025
Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.
Papers in Europe PMC - 10Richard S2 papers · 2022
Segal Cancer Center, Lady Davis Institute for Medical Research, Montréal, QC H3T 1E2, Canada; Gerald Bronfman Department of Oncology, McGill University, Montréal, QC H3A 1G5, Canada; Department of Medicine, McGill University, Montréal, QC H3A 1A1, Canada; Department of Human Genetics, McGill University, Montréal, QC H3A 0C7, Canada; Department of Biochemistry, McGill University, Montréal, QC H3A 1A3, Canada. Electronic address: stephane.richard@mcgill.ca.
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.
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 15 · after dedupe 14 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 14 · 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 (14)
- ctis·2026-526581-24-01·Authorised·Oral versus Intravenous Tranexamic Acid for Blood Loss Prevention in Off-Pump Coronary Artery Bypass Surgery: A
Randomised Non-Inferiority Trial (TRANSCAB Study)
skipped — LLM skipped (--skip-llm)
- ctis·2025-523832-38-00·Authorised·Multicenter Interventional Study Somatrogon Impact on Outcomes in Naive Small for Gestational Age or Idiopathic Short Stature paediatric patients compared with daily growth hormone
skipped — LLM skipped (--skip-llm)
- ctis·2025-523509-13-00·Authorised, ongoing·Phase 2, Open-Label, Long-Term, Extension (OLE) Study of Infigratinib, an FGFR 1-3-Selective Tyrosine Kinase Inhibitor, in Children with Hypochondroplasia: ACCEL OLE
skipped — LLM skipped (--skip-llm)
- ctis·2025-523157-34-00·Authorised, recruiting·A Phase 3 randomized, double-blind, placebo-controlled, parallel group, multicenter study with open-label extension to evaluate the efficacy and safety of fenfluramine hydrochloride in study participants with Rett syndrome
skipped — LLM skipped (--skip-llm)
- ctis·2025-523079-44-00·Authorised, ongoing·HighLiGHts - A Pivotal, Parallel-Arm, Phase 3, Open-Label, Active-controlled, Global, Multicenter, Randomized Basket Trial Investigating the Efficacy and Safety of Once-weekly Lonapegsomatropin Compared to Daily Somatropin in Prepubertal Children and Adolescents with Growth Failure or Short Stature due to Growth Hormone Sufficient Disorders – Turner Syndrome, SHOX Deficiency, Small for Gestational Age, and Idiopathic Short Stature
skipped — LLM skipped (--skip-llm)
- ctis·2024-516822-67-00·Authorised, ongoing·A Phase 2/3, Multicenter, Open-Label Phase Followed by a Double-Blind, Randomized, Placebo-Controlled Study to Evaluate the Efficacy and Safety of Infigratinib in Children with Hypochondroplasia: ACCEL 2/3
skipped — LLM skipped (--skip-llm)
- ctis·2024-520137-74-00·Authorised, ongoing·A Phase 2, Randomized, Controlled, Multicenter Study of Vosoritide in Children With Idiopathic Short Stature
skipped — LLM skipped (--skip-llm)
- ctis·2024-515861-33-00·Authorised, recruiting·A Phase 2, Randomized, Multicenter, Study of Vosoritide in Children with Noonan Syndrome with Inadequate Growth During or After Human Growth Hormone Treatment
skipped — LLM skipped (--skip-llm)
- ctis·2023-506927-27-00·Expired·A study comparing the effect and safety of once weekly dosing of somapacitan with daily Norditropin® as well as evaluating long-term safety of somapacitan in a basket study design in children with short stature either born small for gestational age or with Turner syndrome, Noonan syndrome, or idiopathic short stature
skipped — LLM skipped (--skip-llm)
- ctis·2023-506830-66-00·Expired·A dose-finding trial evaluating the effect and safety of once-weekly treatment of somapacitan compared to daily Norditropin® in children with short stature born small for gestational age with no catch-up growth by 2 years of age or older
skipped — LLM skipped (--skip-llm)
- ctis·2023-508864-31-00·Expired·A Phase 3, Open-Label Long-Term Extension Study to Evaluate the Safety and Efficacy of BMN 111 in Children with Achondroplasia
skipped — LLM skipped (--skip-llm)
- ctis·2022-500306-17-00·Expired·A multi-center, randomized, active controlled clinical trial to evaluate the efficacy and safety of OTL-203 in subjects with mucopolysaccharidosis type I, Hurler syndrome (MPS-IH) compared to standard of care with allogeneic hematopoietic stem cell transplantation (allo-HSCT)
skipped — LLM skipped (--skip-llm)
- ctis·2022-502858-14-00·Cancelled·A Long-term Safety Extension Study of Mavacamten (MYK-461) in Adults with Hypertrophic Cardiomyopathy Who Have Completed the MAVERICKHCM (MYK-461-006) or EXPLORER-HCM (MYK-461-005) Trials (MAVA-LTE)
skipped — LLM skipped (--skip-llm)
- ctis·2022-501055-87-01·Expired·A study evaluating the safety and efficacy of once-weekly dosing of somapacitan in a basket study design in paediatric participants with short stature either born small of gestational age or with Turner syndrome, Noonan syndrome or idiopathic short stature
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-brachydactyly-obesity-global developmental delay 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-brachydactyly-obesity-global developmental delay syndrome" OR "SBIDDS" OR "short stature, brachydactyly, intellectual developmental disability, and seizures") OR ("PRMT7" OR "PRMT7 syndrome" OR "PRMT7-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Short stature-brachydactyly-obesity-global developmental delay syndrome" OR "SBIDDS" OR "short stature, brachydactyly, intellectual developmental disability, and seizures"
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
- Publication count (1352) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T16:54:13.321Z