ORPHA:2316
Johnson neuroectodermal syndrome
Also known as: Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome · Alopecia-anosmia-deafness-hypogonadism syndrome · Johnson-McMillin syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
A rare neuroectodermal syndrome characterized by hypotrichosis/alopecia, hyposmia/anosmia, conductive deafness associated with protruding ears, microtia, and/or atresia of the external auditory canal, hypogonadotropic hypogonadism, and a greater than normal tendency to dental caries. Some patients may also present with mild facial asymmetry, cleft palate, facial nerve palsy, heart defect, multiple truncal café-au-lait spots, and /intellectual deficiency.
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.
Is anyone studying this?
18
18 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=183) is 38.
18 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
5 in the last 10 years · high confidence · 22.4th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
high confidence · 29.6th percentile (trials denominator)
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.
Who's working on it?
123
Distinct author names in 18 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.
- 01Guion-Almeida ML2 papers · 2015
Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru 17012-900, Brazil.
Papers in Europe PMC - 02Weaver DD2 papers · 2015
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Papers in Europe PMC - 03Zechi-Ceide RM2 papers · 2015
Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies, University of São Paulo, Bauru 17012-900, Brazil.
Papers in Europe PMC - 04Abdel-Meguid N1 paper · 2014
Department of Children with Special Needs, Medical Division, National Research Centre, Cairo, Egypt.
Papers in Europe PMC - 05Abdelraouf ER1 paper · 2014
Department of Children with Special Needs, Medical Division, National Research Centre, Cairo, Egypt.
Papers in Europe PMC - 06Adameyko I1 paper · 2015
Unit of Molecular Neurobiology, Department of Medical Biochemistry and Biophysics, Karolinska Institute, Stockholm 17177, Sweden.
Papers in Europe PMC - 07Adir N1 paper · 2008Papers in Europe PMC
- 08Amiel J1 paper · 2015
INSERM UMR 1163, Institut Imagine, Paris 75015, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris 75015, France; Service de Génétique, Hôpital Necker-Enfants Malades, AP-HP, Paris 75015, France. Electronic address: jeanne.amiel@inserm.fr.
Papers in Europe PMC - 09Bahgat M1 paper · 2014
Department of Ear Nose and Throat, Faculty of Medicine, Cairo University, Cairo, Egypt.
Papers in Europe PMC - 10Bankier A1 paper · 1994Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"Johnson neuroectodermal syndrome" OR "Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome" OR "Alopecia-anosmia-deafness-hypogonadism syndrome" OR "Johnson-McMillin syndrome"
MeSH descriptor terms unioned into the query: Johnson neuroectodermal syndrome
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Johnson neuroectodermal syndrome" OR "Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome" OR "Alopecia-anosmia-deafness-hypogonadism syndrome" OR "Johnson-McMillin syndrome"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C535882 OMIM:147770 UMLS:C0796002
Query health: suspect — strategies attempted: phrase, mesh; 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