ORPHA:228390
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Also known as: ALX4-related FNDAG · Craniofrontonasal dysplasia with alopecia and hypogonadism · Frontonasal dysplasia type 2 · Frontonasal dysplasia with alopecia and genital abnomality
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Clinical definition (Orphanet)
A rare, genetic, frontonasal characterized by coronal craniosynostosis, large skull defect with aplasia of ethmoid and nasal bones, hypertelorism, severely depressed nasal bridge and bifid nasal tip in association with total alopecia and hypogonadism. is mild to moderate.
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?
8
8 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.
8 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).
7 in the last 10 years · high confidence · 26.2th 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
0
no matched trials for frontonasal dysplasia, the broader category this belongs to either
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
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?
Yes — we know a specific gene responsible (ALX4).
GenCC classification: Definitive.
Who's working on it?
73
Distinct author names in 8 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.
- 01Abdel-Hamid MS1 paper · 2018
Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Papers in Europe PMC - 02Abdel-Salam GMH1 paper · 2018
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Papers in Europe PMC - 03Afifi HH1 paper · 2018
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Papers in Europe PMC - 04Aglan MS1 paper · 2018
Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt.
Papers in Europe PMC - 05Ahmad W1 paper · 2020
Department of Biochemistry, Quaid-i-Azam University, Islamabad, Pakistan.
Papers in Europe PMC - 06Akter S1 paper · 2024
Bangladesh Council of Scientific and Industrial Research, Dhaka, Bangladesh.
Papers in Europe PMC - 07
- 08Banu TA1 paper · 2024
Bangladesh Council of Scientific and Industrial Research, Dhaka, Bangladesh.
Papers in Europe PMC - 09Beuriat PA1 paper · 2023
Department of Pediatric Neurosurgery, French Referral Center for Craniosynostosis, Hôpital Femme Mère-Enfant Hospices Civils de Lyon, University of Lyon, INSERM 1033, Lyon, France.
Papers in Europe PMC - 10Bournat JC1 paper · 2020
Center for Reproductive Medicine, Baylor College of Medicine, Houston, TX, USA.
Papers 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.
Broader category frontonasal dysplasia also has no matched interventional trial. 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.
"Frontonasal dysplasia-alopecia-genital anomalies syndrome" OR "ALX4-related FNDAG" OR "Craniofrontonasal dysplasia with alopecia and hypogonadism" OR "Frontonasal dysplasia type 2" OR "Frontonasal dysplasia with alopecia and genital abnomality"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Frontonasal dysplasia-alopecia-genital anomalies syndrome" OR "ALX4-related FNDAG" OR "Craniofrontonasal dysplasia with alopecia and hypogonadism" OR "Frontonasal dysplasia type 2" OR "Frontonasal dysplasia with alopecia and genital abnomality" OR "ALX4"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): OMIM:613451 UMLS:C3150703
Query health: suspect — strategies attempted: phrase, recall-expansion; 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