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ORPHA:2228

Hypodontia-dysplasia of nails syndrome

low confidenceDisorder

Also known as: Hypodontia-nail dysgenesis syndrome · Tooth and nail syndrome · Witkop syndrome

Publications

6,039

Trials

0

Interventional, condition-specific

Researchers

557

Distinct authors in sample

Gene link

MSX1

Limited

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Hypodontia-nail syndrome is a form of ectodermal .

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (7)

HND · hypodontia and nail dysplasia · hypodontia with nail dysplasia · hypodontia-nail dysgenesis syndrome · hypodontia-nail dysplasia · hypoplastic enamel-onycholysis-hypohidrosis syndrome · tooth and nail syndrome

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.

  1. Gene identifiedPresent

    Limited — MSX1

  2. LiteraturePresent

    6,039 matched papers (3,139 in last 10 years) Source

  3. Phenotype characterisedPresent

    26 HPO annotations (e.g. Sparse hair; Agenesis of permanent teeth; Abnormal sweat gland morphology) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. 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?

Possibly — only limited evidence so far for MSX1.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

26

Associated phenotypes · MONDO:0008582

  • Sparse hair
  • Agenesis of permanent teeth
  • Abnormal sweat gland morphology
  • Concave nail
  • Microdontia of primary teeth

Showing 5 of 26 — 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?

6,039

6,039 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

6,039 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).

3,139 in the last 10 years · low confidence

Phrase hits: 103 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

557

Distinct author names in 103 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.

  1. 01
    Baig SM3 papers · 2013

    Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad 38000, Pakistan.

    Papers in Europe PMC
  2. 02
    Dahl N3 papers · 2013

    Department of Immunology, Genetics and Pathology, The Rudbeck Laboratory and Science for Life Laboratory, Uppsala University, 751 85 Uppsala, Sweden. Electronic address: niklas.dahl@igp.uu.se.

    Papers in Europe PMC
  3. 03
    Klar J3 papers · 2013

    Department of Immunology, Genetics and Pathology, The Rudbeck Laboratory and Science for Life Laboratory, Uppsala University, 751 85 Uppsala, Sweden.

    Papers in Europe PMC
  4. 04
    Wu Y3 papers · 2024

    Department of Second Dental Center, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine; College of Stomatology, Shanghai Jiao Tong University; National Center for Stomatology; National Clinical Research Center for Oral Diseases; Shanghai Key Laboratory of Stomatology, Shanghai, China. yiqunwu@hotmail.com.

    Papers in Europe PMC
  5. 05
    Adusumilli G2 papers · 2013

    Department of Orthodontics, Academy of Medical Education's Dental College and Hospital, Raichur, Karnataka, India.

    Papers in Europe PMC
  6. 06
    Bian Z2 papers · 2016

    The State Key Laboratory Breeding Base of Basic Science of Stomatology (Hubei- MOST) and Key Laboratory of Oral Biomedicine Ministry of Education, School and Hospital of Stomatology, Wuhan University, Wuhan, P.R. China.

    Papers in Europe PMC
  7. 07
    Brook AH2 papers · 2009

    International Collaborating Centre in Oro-facial Genetics and Development, University of Liverpool, School of Dental Sciences, Edwards Building, Daulby Street, Pembroke Place, Liverpool, L69 3GN, UK. a.h.brook@liverpool.ac.uk

    Papers in Europe PMC
  8. 08
    Cai T2 papers · 2021

    National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD, USA.

    Papers in Europe PMC
  9. 09
    Carels CE2 papers · 2016

    1] Department of Orthodontics and Craniofacial Biology, Radboud University Medical Center, Nijmegen, The Netherlands [2] Radboud Center for Cleft Palate and Craniofacial Anomalies, Radboud University Medical Center, Nijmegen, The Netherlands [3] Department of Oral Health Sciences, KU Leuven, Leuven, Belgium.

    Papers in Europe PMC
  10. 10
    Devanna R2 papers · 2013

    Department of Orthodontics, Academy of Medical Education's Dental College and Hospital, Raichur, Karnataka, India.

    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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-29

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).

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 Hypodontia-dysplasia of nails syndrome — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This 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.

("Hypodontia-dysplasia of nails syndrome" OR "Hypodontia-dysplasia of the nails syndrome" OR "Hypodontia-nail dysgenesis syndrome" OR "Tooth and nail syndrome" OR "Witkop syndrome" OR "hypodontia and nail dysplasia" OR "hypodontia with nail dysplasia" OR "hypodontia-nail dysplasia" OR "hypoplastic enamel-onycholysis-hypohidrosis syndrome") OR ("MSX1" OR "MSX1 syndrome" OR "MSX1-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Hypodontia-dysplasia of nails syndrome" OR "Hypodontia-dysplasia of the nails syndrome" OR "Hypodontia-nail dysgenesis syndrome" OR "Tooth and nail syndrome" OR "Witkop syndrome" OR "hypodontia and nail dysplasia" OR "hypodontia with nail dysplasia" OR "hypodontia-nail dysplasia" OR "hypoplastic enamel-onycholysis-hypohidrosis syndrome"

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

Synonyms dropped by stoplist: HND

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (6039) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T19:31:02.229Z