ORPHA:2879
Phocomelia, Schinzel type
Also known as: Al Awadi-Raas-Rothschild syndrome · Aplasia/hypoplasia of limbs and pelvis · Congenital absence of ulna and fibula · Severe limb deficit
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
32
30.9th percentile
Trials
0
Interventional, condition-specific
Researchers
165
Distinct authors in sample
Gene link
WNT7A
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic syndrome with limb reduction defects characterized by skeletal malformations comprising absent or hypoplastic pelvic bones (including sacral agenesis or hypoplasia), intercalary limb deficiencies (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele). Additional features may include thoracic , facial features (dysplastic and large ears, and a high and narrow palate), and genital malformations (Mullerian aplasia, agenesis of the uterus and vagina, micropenis with cryptorchidism). Growth and mental development are not affected.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010164
- MeSH:C535612
- OMIM:276820
- UMLS:C1848651
Additional Mondo synonyms (3)
aplasia/hypoplasia of limbs and pelvis · congenital absence of ulna and fibula · severe limb deficit
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.”
2/6 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.
- Gene identifiedPresent
Strong — WNT7A
- LiteraturePresent
32 matched papers (13 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 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?
Yes — we know a specific gene responsible (WNT7A).
GenCC classification: Strong.
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?
32
32 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.
32 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).
13 in the last 10 years · high confidence · 30.9th percentile (publications denominator)
Phrase hits: 32 · MeSH hits: 0
Who's working on it?
165
Distinct author names in 32 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.
- 01Kantaputra PN2 papers · 2017
Department of Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.
Papers in Europe PMC - 02Liu S2 papers · 2023
Department of Stomatology, Huashan Hospital, Fudan University , Shanghai , P. R. China.
Papers in Europe PMC - 03Reutter H2 papers · 2021
Department of Neonatology and Paediatric Intensive Care, University Hospital Erlangen, 91054 Erlangen, Germany.
Papers in Europe PMC - 04Abdalla EM1 paper · 2017
Department of Medical Genetics, King Abdulaziz University, Jeddah, Saudi Arabia.
Papers in Europe PMC - 05Al Balwi M1 paper · 2013Papers in Europe PMC
- 06Al-Gazali L1 paper · 2006Papers in Europe PMC
- 07Al-Qattan MM1 paper · 2013
Department of Surgery, King Saud University, Riyadh, Saudi Arabia.
Papers in Europe PMC - 08AlAbdulkareem I1 paper · 2013Papers in Europe PMC
- 09Alaez-Verson C1 paper · 2023
Laboratorio de Diagnóstico Genómico, Instituto Nacional de Medicina Genómica, Mexico City, Mexico.
Papers in Europe PMC - 10Alkuraya FS1 paper · 2013Papers 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 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.
high 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.
See who's working on it — 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 on the overview but are not added to the query string.
"Phocomelia, Schinzel type" OR "Al Awadi-Raas-Rothschild syndrome" OR "Aplasia/hypoplasia of limbs and pelvis" OR "Aplasia/hypoplasia of the limbs and pelvis" OR "Congenital absence of ulna and fibula" OR "Congenital absence of the ulna and fibula" OR "Severe limb deficit"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Phocomelia, Schinzel type" OR "Al Awadi-Raas-Rothschild syndrome" OR "Aplasia/hypoplasia of limbs and pelvis" OR "Aplasia/hypoplasia of the limbs and pelvis" OR "Congenital absence of ulna and fibula" OR "Congenital absence of the ulna and fibula" OR "Severe limb deficit" OR "WNT7A"
Recall-expansion terms: WNT7A
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
Ingested 2026-07-26T21:31:11.659Z