Acrocallosal syndrome

disorder

SNOMED 715951007CUI C0796147

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Research Evidence

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

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Intracranial cystic lesions and polydactyly associated with acrocallosal syndrome: Sonographic findings in two cases.

[object Object], [object Object], [object Object] et al. · J Clin Ultrasound · 2019

PMID: 31318057Case Report

Olfactory bulb and olfactory tract abnormalities in acrocallosal syndrome and Greig cephalopolysyndactyly syndrome.

[object Object], [object Object], [object Object] et al. · Pediatr Radiol · 2019

PMID: 31399769Case ReportFull text (PMC)

Diffusion MRI abnormalities in pediatric neurological disorders.

[object Object] · Brain Dev · 2011

PMID: 20880644Review

[Agenesis of corpus callosum - a review].

[object Object] · Akush Ginekol (Sofiia) · 2010

PMID: 20734653Review

Corpus callosum agenesis and rehabilitative treatment.

[object Object], [object Object] · Ital J Pediatr · 2010

PMID: 20849621ReviewFull text (PMC)

The ATP-binding cassette transporter ABCA4: structural and functional properties and role in retinal disease.

[object Object], [object Object], [object Object] · Adv Exp Med Biol · 2010

PMID: 20711710ReviewFull text (PMC)

Disorders of prosencephalic development.

[object Object], [object Object], [object Object] et al. · Prenat Diagn · 2009

PMID: 19184971Review

Post-natal investigations: management and prognosis for fetuses with CNS anomalies identified in utero excluding neurosurgical problems.

[object Object], [object Object], [object Object] · Prenat Diagn · 2009

PMID: 19333959Review

Understanding the mechanisms of callosal development through the use of transgenic mouse models.

[object Object], [object Object] · Semin Pediatr Neurol · 2009

PMID: 19778710Review

Altered GLI3 and FGF8 signaling underlies acrocallosal syndrome phenotypes in Kif7 depleted mice.

[object Object], [object Object], [object Object] et al. · Hum Mol Genet · 2019

PMID: 30445565Preclinical

Search all PubMed articles for Acrocallosal syndrome

Research data from MEDLINE/PubMed

Signs & Symptoms

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

Big calvaria

Very frequent (80-99%)HP:0000256

Duplication of phalanx of thumb

Very frequent (80-99%)HP:0009942

Dysplastic ears

Very frequent (80-99%)HP:0000377

Fibular polydactyly

Very frequent (80-99%)HP:0001830

Frontal protuberance

Very frequent (80-99%)HP:0002007

Generalised decreased muscle tone

Very frequent (80-99%)HP:0001290

Hypoplastic or absent corpus callosum

Very frequent (80-99%)HP:0007370

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Low intelligence

Very frequent (80-99%)HP:0001249

Partial/complete duplication of the phalanges of the hallux

Very frequent (80-99%)HP:0010066

Polydactyly affecting the hallux

Very frequent (80-99%)HP:0001841

Postaxial hand polydactyly

Very frequent (80-99%)HP:0001162

Preaxial hand polydactyly

Very frequent (80-99%)HP:0001177

Cerebral cystic malformation

Frequent (30-79%)HP:0010576

Dandy-Walker cyst

Frequent (30-79%)HP:0001305

Decreased height of philtrum

Frequent (30-79%)HP:0000322

Down-slanting palpebral fissure

Frequent (30-79%)HP:0000494

Epilepsy

Frequent (30-79%)HP:0001250

Growth failure

Frequent (30-79%)HP:0001510

High arched palate

Frequent (30-79%)HP:0000218

Increased width of the forehead

Frequent (30-79%)HP:0000337

Muscular hypotonia

Frequent (30-79%)HP:0001252

Palpebronasal fold

Frequent (30-79%)HP:0000286

Partial syndactyly

Frequent (30-79%)HP:0006101

Preauricular skin tags

Frequent (30-79%)HP:0000384

Sloping forehead

Frequent (30-79%)HP:0000340

Small nose

Frequent (30-79%)HP:0003196

Syndactyly of feet

Frequent (30-79%)HP:0001770

Triphalangy of thumb

Frequent (30-79%)HP:0001199

Related Conditions

Agenesis of corpus callosum(parent)

Multiple malformation syndrome with facial-limb defects as major feature(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of nervous system(parent)

Developmental hereditary disorder(parent)

Quick Facts

SNOMED CT: 715951007
UMLS CUI: C0796147
Fully Specified Name: Acrocallosal syndrome (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.