ORPHA:464288
Short stature-brachydactyly-obesity-global developmental delay syndrome
Also known as: SBIDDS
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
30
43.8th percentile
Trials
0
Interventional, condition-specific
Researchers
351
Distinct authors in sample
Gene link
PRMT7
Strong
Readiness
2/6
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.”
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 — PRMT7
- LiteraturePresent
30 matched papers (30 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 (PRMT7).
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?
30
30 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.
30 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).
30 in the last 10 years · high confidence · 43.8th percentile (publications denominator)
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 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.
"Short stature-brachydactyly-obesity-global developmental delay syndrome" OR "SBIDDS" OR "short stature, brachydactyly, intellectual developmental disability, and seizures"
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" OR "PRMT7"
Recall-expansion terms: PRMT7
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 2026-07-27T16:54:13.321Z