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isolated oxycephaly - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

isolated oxycephaly

MONDO:0018971

Also known as:acrocephalyhypsicephalyhypsocephaly

Overview

Isolated oxycephaly is a late-appearing form of nonsyndromic craniosynostosis characterized by premature fusion of both the coronal and sagittal sutures, and, in some cases, of the lambdoid sutures. Compensatory growth in the region of the anterior fontanel results in a pointed or cone-shaped skull.

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

GeneReviews

Clinical Guidance

With the ability to detect pathogenic variants in TWIST1, the phenotypic spectrum of Saethre-Chotzen syndrome (SCS) is increasingly broad. Both milder and more severe phenotypes are recognized. Classic Saethre-Chotzen syndrome is characterized by coronal synostosis (unilateral or bilateral), facial asymmetry (particularly in individuals with unicoronal synostosis), strabismus, ptosis, and characteristic appearance of the ear (small pinna with a prominent superior and/or inferior crus). Partial cutaneous syndactyly of digits two and three of the hand is common and may be subtle.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Suggestive Findings

Saethre-Chotzen syndrome (SCS) should be suspected in individuals with a combination of the following features:

Craniosynostosis (premature fusion of one or more sutures of the calvarium)
The coronal suture is the most commonly affected, although any or all sutures can be affected.
Craniosynostosis often presents with an abnormal skull shape (e.g., brachycephaly [short, broad skull], acrocephaly [tall skull], anterior plagiocephaly [flat skull]).

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for isolated oxycephaly. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Saethre-Chotzen syndrome (SCS), the evaluations summarized (if not performed as part of the evaluation that led to diagnosis) are recommended. Table 3. Recommended Evaluations Following Initial Diagnosis in Individuals with SCS

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

Table 5. Recommended Surveillance for Individuals with SCS

Medical Concern

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for isolated oxycephaly.

50 publications have been identified in PubMed for isolated oxycephaly. Research spans Clinical Trial Publication (24%), Review / Meta-Analysis (20%), and Basic Science / Preclinical (20%).

Research Type	Count	% of Total
Clinical study results	12	24%

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 1:50 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:63440

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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GeneReviews

Differential Diagnosis

Table 2. Disorders to Consider in the Differential Diagnosis of Saethre-Chotzen Syndrome (SCS)

Disorder	Gene(s)	MOI	Clinical Features	Comment
Muenke syndrome	FGFR31	AD	Unilateral/bilateral coronal synostosis	In SCS:2; Low-set frontal hairline; Downward-sloping palpebral fissures; Ptosis; Ear abnormalities; Interdigital webbing In Muenke syndrome:; Higher prevalence of DD (35%, vs 5% in SCS)
ZIC1	AD	If left untreated or incompletely treated, IUCS can facial asymmetry resembling SCS.	By definition, IUCS is not assoc w/other clinical findings of SCS.	Coronal synostosis is 2nd most common form of single-suture fusion (after sagittal synostosis).; Isolated coronal fusion is ~10x more common than SCS. Baller-Gerold syndrome (BGS)
RECQL4	AR	Bilateral coronal craniosynostosis brachycephaly w/ocular proptosis flat forehead	In BGS:; Radial ray defect, usually w/oligodactyly ( # of digits), aplasia or hypoplasia of the thumb, /or aplasia or hypoplasia of the radius; Growth restriction	Rothmund-Thomson syndrome RAPADILINO syndrome (OMIM 266280), also caused by RECQL4 pathogenic variants, have overlapping clinical features w/BGS.

Source: GeneReviews — "Saethre-Chotzen Syndrome"

Kisho

isolated oxycephaly

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

isolated oxycephaly

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications