Acrocephalosyndactyly

Summary

Acrocephalosyndactyly (MONDO:0019796) is a disease and 20 clinical trials. A subtype of syndromic craniosynostosis — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Clinical trials: 20

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	acrocephalosyndactyly
Mondo ID	MONDO:0019796
Orphanet	946
DOID	DOID:12960
NCIT	C34348
SNOMED CT	268262006
UMLS	C1510455
MedGen	267602
GARD	0025147
MedDRA	10000590
Is cancer (heuristic)	no

Also known as: acrocephalosyndactylia · acrocephalosyndactyly · ACS

Disease family

This is a subtype of syndromic craniosynostosis. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › syndromic disease › syndromic craniosynostosis › acrocephalosyndactyly

Related subtypes (39): Crouzon syndrome, Beare-Stevenson cutis gyrata syndrome, Shprintzen-Goldberg syndrome, acrocephalopolydactyly, Antley-Bixler syndrome, C syndrome, cranioectodermal dysplasia, cardiocranial syndrome, Pfeiffer type, craniosynostosis-fibular aplasia syndrome, Baller-Gerold syndrome, craniotelencephalic dysplasia, Summitt syndrome, X-linked intellectual disability-plagiocephaly syndrome, Lowry-MacLean syndrome, pseudoaminopterin syndrome, craniosynostosis 4, holoprosencephaly-craniosynostosis syndrome, Hunter-McAlpine craniosynostosis, Curry-Jones syndrome, craniomicromelic syndrome, Muenke syndrome, craniosynostosis-anal anomalies-porokeratosis syndrome, craniosynostosis 2, cloverleaf skull-multiple congenital anomalies syndrome, craniosynostosis-intracranial calcifications syndrome, Crouzon syndrome-acanthosis nigricans syndrome, craniosynostosis and dental anomalies, lethal occipital encephalocele-skeletal dysplasia syndrome, TCF12-related craniosynostosis, autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome, cloverleaf skull-asphyxiating thoracic dysplasia syndrome, craniosynostosis, Philadelphia type, craniosynostosis-cataract syndrome, familial scaphocephaly syndrome, craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome, osteosclerosis-developmental delay-craniosynostosis syndrome, craniosynostosis, Herrmann-Opitz type, trigonocephaly-broad thumbs syndrome, Weiss-Kruszka syndrome

Subtypes (4): acrocephalopolysyndactyly, Apert syndrome, Saethre-Chotzen syndrome, Jackson-Weiss syndrome

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 20.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	18
PHASE4	2

Top trials by phase / activity

NCT	Phase	Status	Title
NCT06759272	PHASE4	NOT_YET_RECRUITING	Impact of CYP2C19 Genotype-guided Approach in Antiplatelet Therapy on Platelet Reactivity Index Among Coronary Artery Disease (CAD) Patients
NCT07351643	PHASE4	NOT_YET_RECRUITING	CCTA Evaluation of SGLT2i-related Pericoronary Fat Changes in Non-diabetic ACS Patients Without HF
NCT06757777	Not specified	NOT_YET_RECRUITING	Evaluation of Remnant Cholesterol Levels and Monocyte-to-HDL-cholesterol Ratio as Predictors of Coronary Artery Disease Severity in Patients With Acute Coronary Syndrome
NCT06899776	Not specified	ACTIVE_NOT_RECRUITING	Assessing Chest Pain Using Point-of-Care High-Sensitivity Troponin I in the Emergency Department
NCT07026708	Not specified	RECRUITING	TIRANA-ACS: A Prospective Registry Study for the Targeted Investigation of Residual Inflammation After Non-ST/ ST Elevation Acute Coronary Syndrome
NCT07096973	Not specified	RECRUITING	Cardiac REhabilitation COhort at the Medicine Campus DaVos to invEstigate Recovery
NCT07128667	Not specified	NOT_YET_RECRUITING	Clinical Features and Long-Term Prognosis in Young Patients With Acute Myocardial Infarction
NCT07190274	Not specified	NOT_YET_RECRUITING	Prospective Observational Cohort Study on Impact of Frailty on Risk Prediction, Treatment Strategies, and Short-Term Outcomes in Patients With Acute Coronary Syndrome
NCT07231835	Not specified	RECRUITING	Registry of Coronary Disease Outcomes Revascularizing With Drug-Coated Balloons
NCT07264881	Not specified	NOT_YET_RECRUITING	For Patients With Myocardial Infarction and Multiple Vessel: Testing if Ultrasound (UFR) Can Guide All Needed Treatment in One Procedure, Avoiding a Return Hospital Visit for a Second Operation.
NCT07422688	Not specified	ENROLLING_BY_INVITATION	Optical Coherence Tomography in Acute Vessel Evaluation
NCT07486791	Not specified	RECRUITING	A Clinical Study on the Effect of Cardiopulmonary Function and Quality of Life in Patients With Acute Coronary Syndrome Complicated by Heart Failure by Lying-Sitting-Standing Sequential Baduanjin
NCT01171404	Not specified	COMPLETED	Study Evaluating How Patients With Acute Coronary Syndrome Are Managed During 2 Years After Discharge
NCT03444012	Not specified	COMPLETED	ADHERE-S (NIS Brilique)
NCT04580706	Not specified	UNKNOWN	The Effect of Frailty and Other Geriatric Syndromes on the Prognosis of Elderly Patients With Acute Coronary Syndrome
NCT04937803	Not specified	COMPLETED	Safety and Efficacy of Drug-Coated Balloon for De-novo Lesions in Patients With Acute Coronary Syndromes (DCB-ACS)
NCT04987268	Not specified	COMPLETED	CHIP and Residual Cardiovascular Event Tendency After Smoking Cessation
NCT05243485	Not specified	COMPLETED	Prehospital Triage of Patients With Suspected Non-ST-segment Elevation Acute Coronary Syndrome: the TRIAGE-ACS Study
NCT05857735	Not specified	COMPLETED	Kuwait Heart Foundation Registry of Acute Coronary Events
NCT07474441	Not specified	COMPLETED	Early Coronary Angiography in Advanced Chronic Kidney Disease With Acute Coronary Syndrome

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
CHEMBL4281478	0	1