ORPHA:488627
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
7
23.5th percentile
Trials
0
Interventional, condition-specific
Researchers
49
Distinct authors in sample
Gene link
PUS3
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare multiple anomalies/ syndrome with characterized by onset of global , severe , growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with . Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.
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:0014886
- OMIM:617051
- UMLS:C4310745
Additional Mondo synonyms (7)
MRT55 · intellectual disability, autosomal recessive 55 · intellectual disability, autosomal recessive type 55 · mental retardation, autosomal recessive 55 · mental retardation, autosomal recessive type 55 · neurodevelopmental disorder with microcephaly and gray sclerae · neurodevelopmental disorder with microcephaly and grey sclerae
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
Definitive — PUS3
- LiteraturePresent
7 matched papers (7 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 (PUS3).
GenCC classification: Definitive.
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?
7
7 papers have ever been indexed 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.
7 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).
7 in the last 10 years · high confidence · 23.5th percentile (publications denominator)
Phrase hits: 7 · MeSH hits: 0
Who's working on it?
49
Distinct author names in 7 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.
- 01Reis A2 papers · 2018
Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.
Papers in Europe PMC - 02Riazuddin S2 papers · 2018
National Centre of Excellence in Molecular Biology, University of The Punjab, Lahore 53700, Pakistan; Center for Genetic Diseases, Shaheed Zulfiqar Ali Bhutto Medical University, Pakistan Institute of Medical Sciences, Islamabad 44000, Pakistan; Allama Iqbal Medical College, University of Health Sciences, Lahore 54600, Pakistan.
Papers in Europe PMC - 03Abou Jamra R1 paper · 2018
Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany; Institute of Human Genetics, University Medical Center Leipzig, 04109 Leipzig, Germany.
Papers in Europe PMC - 04Ahmed ZM1 paper · 2018
Department of Otorhinolaryngology-Head and Neck Surgery, University of Maryland, School of Medicine, Baltimore, MD 21201-1734, USA.
Papers in Europe PMC - 05Borrell A1 paper · 2021
BCNatal, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Catalonia, Spain.
Papers in Europe PMC - 06Bove J1 paper · 2025
Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, USA.
Papers in Europe PMC - 07Coller JM1 paper · 2019
Department of Genetics and Genome Sciences and Center for RNA Science and Therapeutics, Case Western Reserve University, Cleveland, Ohio 44106, USA; email: ashleigh.schaffer@case.edu.
Papers in Europe PMC - 08de Boer L1 paper · 2018
Department of Paediatrics, Radboud Center for Mitochondrial Medicine, Radboud University Medical Center, 6525 GA Nijmegen, the Netherlands.
Papers in Europe PMC - 09de Brouwer APM1 paper · 2018
Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands. Electronic address: arjan.debrouwer@radboudumc.nl.
Papers in Europe PMC - 10Dinges N1 paper · 2018
Laboratory of RNA Epigenetics, Institute of Molecular Biology (IMB), 55128 Mainz, Germany.
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.
"Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome" OR "MRT55" OR "intellectual disability, autosomal recessive 55" OR "intellectual disability, autosomal recessive type 55" OR "mental retardation, autosomal recessive 55" OR "mental retardation, autosomal recessive type 55" OR "neurodevelopmental disorder with microcephaly and gray sclerae" OR "neurodevelopmental disorder with microcephaly and grey sclerae"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome" OR "MRT55" OR "intellectual disability, autosomal recessive 55" OR "intellectual disability, autosomal recessive type 55" OR "mental retardation, autosomal recessive 55" OR "mental retardation, autosomal recessive type 55" OR "neurodevelopmental disorder with microcephaly and gray sclerae" OR "neurodevelopmental disorder with microcephaly and grey sclerae" OR "PUS3"
Recall-expansion terms: PUS3
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 2026-07-27T17:26:32.339Z