ORPHA:2272
Ichthyosis-oral and digital anomalies syndrome
Also known as: Clayton Smith-Donnai syndrome
Publications
1
7th percentile
Trials
0
Interventional, condition-specific
Researchers
13
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic multiple anomalies/ syndrome characterized by ichthyosis, skeletal and digital anomalies (including flexion deformities of the large joints, proximal interphalangeal joints, absent distal flexion crease of fingers, tapering fingers, hypoplastic toes and nails, dislocatable ankles) and facial dysmorphism (including short forehead, epicanthic folds, small mouth with thin upper lip, midline lower lip groove, and fullness of the lateral eyelids, cleft palate can also be present). Additional clinical features may include , generalized , feeding difficulties, recurrent chest and gastrointestinal infections. There have been no further descriptions in the literature since 1989.
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:0009792
- MeSH:C536272
- OMIM:258840
- UMLS:C1850268
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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
1 matched papers (1 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 trialPartial
None under the specific name; 29 for broader category ichthyosis
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
1
1 paper 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.
1 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).
1 in the last 10 years · high confidence · 7th percentile (publications denominator)
Phrase hits: 1 · MeSH hits: 0
Who's working on it?
13
Distinct author names in 1 sampled paper — 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.
- 01Afolabi OO1 paper · 2022
Department of Physiology and Biophysics, Pharmacology, Institute of Biological Sciences, Federal University of Minas Gerais, Belo Horizonte 31270-901, Brazil.
Papers in Europe PMC - 02Aljabali AAA1 paper · 2022
Department of Pharmaceutics and Pharmaceutical Technology, Faculty of Pharmacy, Yarmouk University, P.O. Box 566, Irbid 21163, Jordan.
Papers in Europe PMC - 03Barh D1 paper · 2022
Institute of Integrative Omics and Applied Biotechnology (IIOAB), Nonakuri, Purba Medinipur 721172, India.
Papers in Europe PMC - 04Gabriel Rodrigues Gomes L1 paper · 2022
Department of Genetics, Ecology and Evolution, Institute of Biological Sciences, Federal University of Minas Gerais, Belo Horizonte 31270-901, Brazil.
Papers in Europe PMC - 05Hromić-Jahjefendić A1 paper · 2022
Department of Genetics and Bioengineering, Faculty of Engineering and Natural Sciences, International University of Sarajevo, Hrasnicka Cesta 15, 71000 Sarajevo, Bosnia and Herzegovina.
Papers in Europe PMC - 06Lundstrom K1 paper · 2022
PanTherapeutics, Route de Lavaux 49, CH1095 Lutry, Switzerland.
Papers in Europe PMC - 07Picanço Machado JL1 paper · 2022
Department of Bioinformatics, Institute of Biological Sciences, Federal University of Minas Gerais, Belo Horizonte 31270-901, Brazil.
Papers in Europe PMC - 08Ramalho Pinto CH1 paper · 2022
Department of Biochemistry and Immunology, Institute of Biological Sciences, Federal University of Minas Gerais, Belo Horizonte 31270-901, Brazil.
Papers in Europe PMC - 09Redwan EM1 paper · 2022
Department of Biological Science, Faculty of Science, King Abdulaziz University, Jeddah 21589, Saudi Arabia.
Papers in Europe PMC - 10Serrano-Aroca Á1 paper · 2022
Biomaterials and Bioengineering Laboratory, Centro de Investigación Traslacional San Alberto Magno, Universidad Católica de Valencia San Vicente Mártir, c/Guillem de Castro 94, 46001 Valencia, Spain.
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 29 trials are registered for ichthyosis, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
29 interventional trials matched ichthyosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: ichthyosis
29
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07689435·NOT YET RECRUITING·Cholesterol Cream vs Urea Cream for Skin Barrier and Quality of Life in Ichthyosis
Conditions: Autosomal Recessive Congenital Ichthyosis · Skin Barrier Dysfunction · Ichthyosis Inherited·Matched via name phrase
- NCT06545695·NOT YET RECRUITING·Epidermal Growth Factor Receptor Inhibition for Keratinopathies
Conditions: Epidermolytic Ichthyosis · Palmoplantar Keratoderma · Pachyonychia Congenita·Matched via name phrase
- NCT06362447·NOT YET RECRUITING·Efficacy of Injectable Gentamicin in Hereditary Ichthyosis
Conditions: Ichthyosis·Matched via name phrase
- NCT06136403·RECRUITING·A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses
Conditions: Epidermolysis Bullosa Simplex · Ichthyosis · Genodermatosis · Inflammatory Congenital Ichthyoses·Matched via name phrase
- NCT05979506·RECRUITING·Evaluate the Evolution of Body and Scalp Skin Discomfort in Patients With Hereditary Ichthyosis After Wraps (EnvelopIchtyose)
Conditions: Ichthyosis Inherited·Matched via name phrase
- NCT07050810·ENROLLING BY INVITATION·Thera-Clean® Microbubbles System in Patients With Skin Diseases
Conditions: Epidermolysis Bullosa · Ichthyosis · Atopic Dermatitis · Psoriasis·Matched via name phrase
Observational and natural-history studies
1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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.
"Ichthyosis-oral and digital anomalies syndrome" OR "Clayton Smith-Donnai syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Ichthyosis-oral and digital anomalies syndrome" OR "Clayton Smith-Donnai syndrome" OR "inherited ichthyosis"
Recall-expansion terms: inherited ichthyosis
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"ichthyosis"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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 2026-07-26T19:38:36.572Z