ORPHA:2250
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Also known as: Bosma arhinia-microphthalmia syndrome · Bosma-Henkin-Christiansen syndrome
Publications
1,209
Trials
0
Interventional, condition-specific
Researchers
921
Distinct authors in sample
Gene link
SMCHD1
Definitive
Readiness
4/6
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.”
4/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — SMCHD1
- LiteraturePresent
1,209 matched papers (957 in last 10 years) Source
- Phenotype characterisedPresent
60 HPO annotations (e.g. Inguinal hernia; Hypoplastic labia majora; Synophrys) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
60
Associated phenotypes · MONDO:0016393
- Inguinal hernia
- Hypoplastic labia majora
- Synophrys
- Hypospadias
- Abnormal pinna morphology
Showing 5 of 60 — 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?
1,209
1,209 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
1,209 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).
957 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 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.
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
- NCT05896293·RECRUITING·Kisspeptin Administration Subcutaneously to Patients With IHH
Conditions: Hypogonadotropic Hypogonadism·Matched via name phrase
- 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
- NCT07224438·RECRUITING·Kisspeptin Administration Subcutaneously to Patients With Hypothalamic Amenorrhea
Conditions: Hypothalamic Amenorrhea · 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
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 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome — check Associations / patient organisations on that page.
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") OR ("SMCHD1" OR "SMCHD1 syndrome" OR "SMCHD1-related")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"
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: ok — strategies attempted: phrase; 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
- Publication count (1209) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T19:35:21.129Z