ORPHA:2250
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Also known as: Bosma arhinia-microphthalmia syndrome · Bosma-Henkin-Christiansen syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
130
Trials
0
Interventional, condition-specific
Researchers
921
Distinct authors in sample
Gene link
SMCHD1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism.
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:0016393
- MONDO:0011323
- MeSH:C537429
- OMIM:603457
- UMLS:C1863878
Additional Mondo synonyms (12)
BAM syndrome · BAMS · Bosma Arhinia Microphthalmia Syndrome · Bosma Henkin Christiansen syndrome · Bosma arhinia microphthalmia syndrome · Bosma syndrome · Gifford-Bosma syndrome · Ruprecht Majewski syndrome · arhinia choanal atresia microphthalmia · arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism · arrhinia-choanal atresia-microphthalmia syndrome · hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism 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 specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — SMCHD1
- LiteraturePresent
130 matched papers (120 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; 49 for broader category hypogonadotropic hypogonadism
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 (SMCHD1).
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?
130
130 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.
130 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).
120 in the last 10 years · low confidence
Phrase hits: 130 · MeSH hits: 0
Who's working on it?
921
Distinct author names in 130 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.
- 01Blewitt ME14 papers · 2026
Walter and Eliza Hall Institute of Medical Research, Parkville, Australia.
Papers in Europe PMC - 02Magdinier F13 papers · 2026
Aix Marseille Univ, INSERM, MMG, U 1251, 13005 Marseille, France.
Papers in Europe PMC - 03Reversade B11 papers · 2026
Institute of Molecular and Cell Biology, A*STAR, Singapore, Singapore.
Papers in Europe PMC - 04Xue S11 papers · 2026
Department of Biological Sciences, National University of Singapore, Singapore, Singapore.
Papers in Europe PMC - 05Shaw ND10 papers · 2025
Department of Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114.
Papers in Europe PMC - 06Murphy JM9 papers · 2026
The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.
Papers in Europe PMC - 07Gurzau AD8 papers · 2026
The Walter and Eliza Hall Institute of Medical Research, Melbourne, VIC, Australia.
Papers in Europe PMC - 08van der Maarel SM8 papers · 2023
Department of Human Genetics, Leiden University Medical Center, Leiden, Netherlands.
Papers in Europe PMC - 09Laberthonnière C7 papers · 2025
Aix-Marseille Univ-INSERM, MMG, 13005 Marseille, France.
Papers in Europe PMC - 10
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). 49 trials are registered for hypogonadotropic hypogonadism, 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.
low 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.
49 interventional trials matched hypogonadotropic hypogonadism, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: hypogonadotropic hypogonadism
49
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
- NCT04252001·NOT YET RECRUITING·Growing up With the Young Endocrine Support System (YESS!)
Conditions: Congenital Adrenal Hyperplasia · Hypogonadotropic Hypogonadism · Growth Hormone Deficiency · Combined Pituitary Hormone Deficiency·Matched via name phrase
- NCT05569577·RECRUITING·An Open Labeled RCT on the Effect of Additional hCG Injection for LPS on Pregnancy Outcomes in IHH Patients
Conditions: Luteal Phase Deficiency · Luteal Phase Support · Idiopathic Hypogonadotropic Hypogonadism·Matched via name phrase
- NCT07224438·RECRUITING·Kisspeptin Administration Subcutaneously to Patients With Hypothalamic Amenorrhea
Conditions: Hypothalamic Amenorrhea · Hypogonadotropic Hypogonadism·Matched via name phrase
- NCT05896293·RECRUITING·Kisspeptin Administration Subcutaneously to Patients With IHH
Conditions: Hypogonadotropic Hypogonadism·Matched via name phrase
- NCT06561594·NOT YET RECRUITING·To Evaluate Recombinant Human Follicle Stimulating Hormone-CTP Fusion Protein Injection or Placebo Combined With Chorionic Gonadotropin for Injection
Conditions: Idiopathic Hypogonadotropic Hypogonadism·Matched via name phrase
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.
"Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome" OR "Bosma arhinia-microphthalmia syndrome" OR "Bosma-Henkin-Christiansen syndrome" OR "BAM syndrome" OR "Bosma Arhinia Microphthalmia Syndrome" OR "Bosma Henkin Christiansen syndrome" OR "Bosma syndrome" OR "Gifford-Bosma syndrome" OR "Ruprecht Majewski syndrome" OR "arhinia choanal atresia microphthalmia" OR "arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism" OR "arrhinia-choanal atresia-microphthalmia syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome" OR "Bosma arhinia-microphthalmia syndrome" OR "Bosma-Henkin-Christiansen syndrome" OR "BAM syndrome" OR "Bosma Arhinia Microphthalmia Syndrome" OR "Bosma Henkin Christiansen syndrome" OR "Bosma syndrome" OR "Gifford-Bosma syndrome" OR "Ruprecht Majewski syndrome" OR "arhinia choanal atresia microphthalmia" OR "arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism" OR "arrhinia-choanal atresia-microphthalmia syndrome" OR "SMCHD1"
Recall-expansion terms: SMCHD1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"hypogonadotropic hypogonadism"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: BAMS
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- "Bosma Arhinia Microphthalmia Syndrome" also appears on ORPHA:1135
- "arrhinia-choanal atresia-microphthalmia syndrome" also appears on ORPHA:1135
Ingested 2026-07-26T19:35:21.129Z