ORPHA:1113
Aphalangy-syndactyly-microcephaly syndrome
Publications
0
Trials
0
Interventional, condition-specific
Researchers
0
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
An extremely rare syndrome characterized by the association of partial distal aphalangia with syndactyly, duplication of metatarsal IV, microcephaly, and mild .
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:0010882
- MeSH:C563942
- OMIM:600384
- UMLS:C1838161
Additional Mondo synonyms (1)
Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4
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.”
1/6 stages with a signal
Search queries returned nothing — this usually means a naming mismatch, not proof that nothing exists.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteratureNot checked
Query returned nothing — not evidence of absence Source
- Phenotype characterisedPresent
23 HPO annotations (e.g. Intellectual disability; Split foot; Abnormal metacarpal morphology) 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 trialNot checked
Broken query — trial zero not trusted
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
23
Associated phenotypes · MONDO:0010882
- Intellectual disability
- Split foot
- Abnormal metacarpal morphology
- Finger symphalangism
- Camptodactyly of finger
Showing 5 of 23 — 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?
0
We found no papers under this exact name — work may still exist under another label.
0 in the last 10 years · low confidence
Phrase hits: 0 · MeSH hits: 0
Who's working on it?
0
Distinct author names in 0 sampled papers.
Who's working on it?
No author names could be extracted from the sampled publications. Try the Europe PMC query in “How we counted this,” or contact an umbrella rare-disease organisation for researcher referrals.
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 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
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.
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 60 · after dedupe 60 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 60 · 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).
Uncertain / not reviewed (60)
- ctis·2026-526821-16-00·Authorised·Melanoma-TBK1-inhibitor enhanced Immuno Therapy with Checkpoint Inhibitors: a Phase IB/II Trial in Unresectable Stage III or Stage IV Cutaneous Melanoma
skipped — LLM skipped (--skip-llm)
- ctis·2025-523960-19-00·Authorised·An Open-Label, Randomized, Multicenter Phase 3 Study Investigating the Efficacy and Safety of BGB-43395 Plus Letrozole versus CDK4/6 Inhibitors (Abemaciclib, Palbociclib, Ribociclib) Plus Letrozole in Patients with Advanced or Metastatic HR+/HER2- Breast Cancer Who Have Not Received Prior Systemic Anticancer Treatment for Advanced or Metastatic Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-524125-40-01·Authorised·Immune dynamics and biomarkers of anti-tumor response in BMS-986340 (anti-CCR8) and nivolumab (anti-PD-1) co-treatment of metastatic tumors
skipped — LLM skipped (--skip-llm)
- ctis·2025-524918-28-00·Authorised·A Randomized, Double-Blind, Placebo-Controlled Study to Investigate the Efficacy and Safety of SIR9900 in Patients with VEXAS Syndrome (SIVEX)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525620-23-00·Authorised·Local and systemic immune modulation by Rilvegostomig (AZD2936) in the treatment of advanced gastric cancer (RILVE Project)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525736-42-00·Authorised·A PHASE II, SINGLE ARM, OPEN LABEL, MULTICENTER STUDY EVALUATING THE EFFICACY AND SAFETY OF CEVOSTAMAB IN COMBINATION WITH POMALIDOMIDE AND DEXAMETHASONE IN PATIENTS WITH MULTIPLE MYELOMA WHO HAVE RECEIVED A PRIOR BCMA TARGETING CAR T-CELL THERAPY
skipped — LLM skipped (--skip-llm)
- ctis·2025-525020-99-00·Authorised·PROPHY-SEIN - Evaluation of the effect of antibiotic prophylaxis during lumpectomy for breast cancer: prospective randomised double-blind noninferiority study of placebo vs cefazolin
skipped — LLM skipped (--skip-llm)
- ctis·2025-524403-80-00·Authorised·A Phase 3, Randomized, Open-Label, Multicenter Study Evaluating the Efficacy of KITE-753 Versus Axicabtagene Ciloleucel in Participants with Relapsed or Refractory Large B-Cell Lymphoma After First-Line Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-519985-35-00·Authorised·Obinutuzumab for systemic lupus erythematosus pure membranous nephropathy: a phase II trial
(OBLUMEN)
skipped — LLM skipped (--skip-llm)
- ctis·2026-525876-24-00·Authorised·Phase I/II clinical trial on the use of central nervous system administrations of CART-NKG2D or NKIL15 cells in children, adolescent and young adults with recurrent/refractory high grade Central Nervous System tumours (CINK-CAR)
skipped — LLM skipped (--skip-llm)
- ctis·2025-525088-34-00·Authorised·RASolute 303: A Phase 3 Global, Multicenter, Open-label, Randomized, 3-Arm Study of Daraxonrasib Monotherapy or Daraxonrasib Plus Gemcitabine and Nab-paclitaxel versus Gemcitabine and Nab-paclitaxel as a First-Line Treatment for Patients with Metastatic Pancreatic Adenocarcinoma
skipped — LLM skipped (--skip-llm)
- ctis·2025-524139-38-00·Authorised·A Phase 2, Open-label Study to Evaluate the Safety, Tolerability, Pharmacokinetics, and Efficacy of Surovatamig in Adults with Antibody-mediated Kidney Disease
skipped — LLM skipped (--skip-llm)
- ctis·2025-525096-83-00·Authorised·Phase II, Multicenter, Randomized Study to Evaluate Safety and Efficacy of MRD-guided Therapy with Reduced versus Standard Dose of Belantamab Mafodotin in Combination with Pomalidomide and Dexamethasone in Patients with Relapsed/Refractory Multiple Myeloma (REBEL)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524285-18-00·Authorised·A Phase 2 Open-Label, Multi-Center Study of BMS-986504 as Monotherapy and in Combination with Other Agents in Participants with Advanced and/or Metastatic Solid Tumors with Homozygous MTAP Deletion
skipped — LLM skipped (--skip-llm)
- ctis·2025-524028-23-00·Authorised, recruiting·A Phase III, Randomized, Open-Label, Multicenter Study Evaluating the Efficacy and Safety of Cevostamab in Combination with Pomalidomide and Dexamethasone Versus Standard of Care in Patients with Multiple Myeloma who Have Received One to Three Prior Lines of Therapy
skipped — LLM skipped (--skip-llm)
- ctis·2024-517799-40-00·Authorised·A multicenter open-label phase II study of Cemiplimab plus chemotherapy, selected on the basis of baseline cytidine deaminase activity, in advanced squamous non-small cell lung cancer - CECYDE trial - GOIRC-04-2024
skipped — LLM skipped (--skip-llm)
- ctis·2026-525566-21-00·Authorised, ongoing·A phase IIa, single-arm, single-center, open label, proof-of-concept trial evaluating increased frequency dosing of VCN-01 (zabilugene almadenorepvec) in combination with nab-Paclitaxel/Gemcitabine (GnP) in Patients with Newly-Diagnosed Metastatic Pancreatic Cancer (VIRAGE2)
skipped — LLM skipped (--skip-llm)
- ctis·2024-519299-16-00·Authorised·A 2-Part, Phase 3, Multicenter, Randomized, Open-Label, Active-Controlled Study to Assess Efficacy and Safety of REGN7508, a Monoclonal Antibody Against Factor XI, for the Treatment and Secondary Prevention of Venous Thromboembolism in Participants with Solid and Hematologic Cancers (ROXI-CAT-II)
skipped — LLM skipped (--skip-llm)
- ctis·2025-525157-39-00·Authorised·A Prospective, Randomized, Controlled, Multinational, Phase 2/3, Open-Label Trial to Evaluate the Efficacy and Safety of SIL204-SL Administered as an Integrated Therapeutic Regimen in Combination with Chemotherapy vs. Chemotherapy Treatment Alone in Participants with Locally Advanced Pancreatic Cancer
skipped — LLM skipped (--skip-llm)
- ctis·2025-523479-49-00·Authorised, recruiting·A Phase 2a Randomized, Double-Blind, Placebo-Controlled Study to Evaluate the Efficacy and Safety of MK-8690 in Adult Participants with Moderately to Severely Active Ulcerative Colitis
skipped — LLM skipped (--skip-llm)
- ctis·2025-524048-36-00·Authorised·Paclitaxel plus ramucirumab and tislelizumab as switch maintenance versus continuation of chemotherapy and tislelizumab in patients with advanced HER2-negative and PD-L1 positive gastroesophageal adenocarcinoma: the ARMANI-2/ENGIC08 trial by GONO
skipped — LLM skipped (--skip-llm)
- ctis·2026-525643-32-00·Authorised·STOP - Safety and efficacy of a STOPping strategy versus classical maintenance dose of JAK inhibitors in deep remission patients with ulcerative colitis: a randomized controlled trial
skipped — LLM skipped (--skip-llm)
- ctis·2025-522267-15-00·Authorised, recruiting·A Phase 2/3, Randomized, Open-Label, Comparison Study of MK-1045 Versus Blinatumomab in Participants With Relapsed or Refractory CD19+ B-Cell Acute Lymphoblastic Leukemia (B-ALL)
skipped — LLM skipped (--skip-llm)
- ctis·2025-524095-27-00·Authorised·A Phase 2, Open-Label, Multicenter, Randomized Study to Evaluate Denikitug as Monotherapy or in Combination With Nivolumab or Chemotherapy in Participants With HER2-Negative, Unresectable, Recurrent, and/or Metastatic Gastric, Gastroesophageal Junction (GEJ), and Esophageal Adenocarcinomas
skipped — LLM skipped (--skip-llm)
- ctis·2025-524283-38-00·Authorised·HOVON 182 CLL: Prospective randomized phase 3 study of treatment with rituximab (6 cycles) in combination with 6 or 26 cycles of venetoclax in patients with relapsed or refractory chronic lymphocytic leukemia
RED RIVER CLL study: Reduced Duration Rituximab VEnetoclax in Relapsed/refractory CLL
skipped — LLM skipped (--skip-llm)
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 Aphalangy-syndactyly-microcephaly 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.
"Aphalangy-syndactyly-microcephaly syndrome" OR "Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4" OR "Aphalangia, partial, with syndactyly and Duplication of the metatarsal type 4"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Aphalangy-syndactyly-microcephaly syndrome" OR "Aphalangia, partial, with syndactyly and Duplication of metatarsal type 4" OR "Aphalangia, partial, with syndactyly and Duplication of the metatarsal type 4"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: broken — strategies attempted: phrase; with hits: none
Parent literature probe: dysostosis (MONDO:0018234) — 11133 hits
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
- Zero publications but parent term dysostosis has 11133 — literature likely indexed under a broader name
Ingested 2026-07-26T16:23:53.111Z · excluded from neglect metrics