Acrocephalosyndactyly

disorder

SNOMED 268262006CUI C1510455

Overview

Acrocephalosyndactyly is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Research Evidence

Peer-reviewed studies linked via MeSH term "Acrocephalosyndactylias" from the MEDLINE/PubMed database.

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Prevalence and Patterns of Permanent Tooth Agenesis in Patients With Crouzon or Apert Syndrome: A Systematic Review and Meta-Analysis.

[object Object], [object Object], [object Object] et al. · Orthod Craniofac Res · 2026

PMID: 41085212Meta-AnalysisFull text (PMC)

Craniofacial morphology in Apert syndrome: a systematic review and meta-analysis.

[object Object], [object Object], [object Object] et al. · Sci Rep · 2022

PMID: 35383244Meta-AnalysisFull text (PMC)

Insights and future directions of potential genetic therapy for Apert syndrome: A systematic review.

[object Object], [object Object], [object Object] et al. · Gene Ther · 2021

PMID: 33619359Meta-Analysis

Nervous system involvement in Pfeiffer syndrome.

[object Object], [object Object] · Childs Nerv Syst · 2021

PMID: 33083874Meta-Analysis

Dental approach for Apert syndrome in children: a systematic review.

[object Object], [object Object], [object Object] et al. · Med Oral Patol Oral Cir Bucal · 2017

PMID: 29053644Meta-AnalysisFull text (PMC)

Apert syndrome and obstructive sleep apnea: Timing for midface surgery.

[object Object], [object Object] · Cranio · 2025

PMID: 39267323Review

Postnatal Progressive Craniosynostosis in Syndromic Conditions: Two Patients With Saethre-Chotzen Due toGene Deletions and Review of the Literature.

[object Object], [object Object], [object Object] et al. · Cleft Palate Craniofac J · 2023

PMID: 35354337Review

Apert Syndrome: Selection Rationale for Midface Advancement Technique.

[object Object], [object Object], [object Object] · Adv Tech Stand Neurosurg · 2023

PMID: 37318579Review

Visual outcomes in children with syndromic craniosynostosis: a review of 165 cases.

[object Object], [object Object], [object Object] et al. · Eye (Lond) · 2022

PMID: 33972704ReviewFull text (PMC)

Optic Nerve Atrophy in Syndromic Craniosynostosis.

[object Object], [object Object], [object Object] et al. · Plast Reconstr Surg · 2022

PMID: 35671456Review

Search all PubMed articles for Acrocephalosyndactyly

Research data from MEDLINE/PubMed

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Broad big toe

Always present (100%)HP:0010055

High arched palate

Always present (100%)HP:0000218

Protruding forehead

Always present (100%)HP:0011220

Webbed fingers

Always present (100%)HP:0010554

Webbed skin of toes

Always present (100%)HP:0010621

Acrobrachycephaly

Very frequent (80-99%)HP:0004487

Brachyturricephaly

Very frequent (80-99%)HP:0000244

Craniosynostosis of coronal suture

Very frequent (80-99%)HP:0004440

Craniosyostosis

Very frequent (80-99%)HP:0001363

Deficiency of upper jaw bones

Very frequent (80-99%)HP:0000327

Flat nasal bridge

Very frequent (80-99%)HP:0005280

Frontal protuberance

Very frequent (80-99%)HP:0002007

Hearing loss, conductive

Very frequent (80-99%)HP:0000405

Increased width of the forehead

Very frequent (80-99%)HP:0000337

Partial syndactyly

Very frequent (80-99%)HP:0006101

Protruding eyes

Very frequent (80-99%)HP:0000520

Syndactyly of feet

Very frequent (80-99%)HP:0001770

Abnormal semicircular canal morphology

Frequent (30-79%)HP:0011380

Abnormal spinal segmentation

Frequent (30-79%)HP:0003422

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Absence of the septum pellucidum

Frequent (30-79%)HP:0001331

Angle class 2 malocclusion

Frequent (30-79%)HP:0000689

Aplastic/hypoplastic thumbs

Frequent (30-79%)HP:0009601

Broad thumbs

Frequent (30-79%)HP:0011304

Cervical C5/C6 vertebrae fusion

Frequent (30-79%)HP:0004635

Chronic ear infection

Frequent (30-79%)HP:0000389

Coanal stenosis

Frequent (30-79%)HP:0000452

Cryptorchidism

Frequent (30-79%)HP:0000028

Cutaneous syndactyly of digits

Frequent (30-79%)HP:0012725

Deafness

Frequent (30-79%)HP:0000365

Related Conditions

Acrocephalosyndactyly (Apert)(child)

Acrocephalopolysyndactyly(child)

Pfeiffer syndrome(child)

Saethre-Chotzen syndrome(child)

Jackson-Weiss syndrome(child)

Craniosynostosis syndrome(parent)

Syndactyly(parent)

Genetic disease(parent)

Multiple malformation syndrome with limb defect as major feature(parent)

Quick Facts

SNOMED CT: 268262006
UMLS CUI: C1510455
Fully Specified Name: Acrocephalosyndactyly (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 30

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.