How is Robinow-Sorauf syndrome inherited?

Robinow-Sorauf syndrome follows an autosomal dominant inheritance pattern. This means inheriting just one copy of the altered gene from either parent can cause the condition.

How is Robinow-Sorauf syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for Robinow-Sorauf syndrome?

Information about treatment is currently limited for this condition.

What complications might arise from Robinow-Sorauf syndrome?

Complications related to Robinow-Sorauf syndrome can vary, but they may include issues with cranial and skeletal development due to the involvement of the TWIST1 gene. Since detailed information about specific complications is limited, it's important for families to work closely with healthcare providers to monitor any potential health concerns as the child grows.

How does Robinow-Sorauf syndrome affect daily life for patients?

Daily life for individuals with Robinow-Sorauf syndrome can be influenced by their physical traits and any associated complications. While specific impacts are not well-documented, families may need to adapt activities and provide support based on the individual's unique needs and abilities.

What is the life expectancy for someone with Robinow-Sorauf syndrome?

Information about life expectancy for individuals with Robinow-Sorauf syndrome is currently limited. Because this syndrome is rare and not well understood, it is essential for families to discuss prognosis and any health concerns with their healthcare team for personalized guidance.

Are there specialists that families should consult for Robinow-Sorauf syndrome?

Families dealing with Robinow-Sorauf syndrome may benefit from consulting specialists such as geneticists, orthopedic surgeons, and pediatricians. These professionals can help manage the various aspects of the syndrome and provide tailored care based on the individual's needs.

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Robinow-Sorauf syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

Robinow-Sorauf syndrome

MONDO:0008391

Also known as:acrocephalosyndactyly, Robinow-Sorauf typecraniosynostosis-bifid hallux syndrome

Overview

GeneticsAutosomal dominant · TWIST1 (chr 7)

ResearchLimited published research (2 articles)

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.

Features include always present findings: Craniosynostosis, Downslanted palpebral fissures, Duplication of the distal phalanx of the hallux, and Broad hallux and others; and common findings: Pansynostosis, Broad thumb, and Plagiocephaly. 16 total HPO annotations.

Organ System	Phenotype Count	Example Features
Head and neck	2	Craniosynostosis, Flat face

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

TWIST1 function has not been fully characterized.

Robinow-Sorauf syndrome is associated with mutations in the TWIST1 gene on chromosome 7.

GeneReviews

Clinical Guidance

Most pathogenic variants causing SCS are intragenic and cause haploinsufficiency of the protein product, Twist-related protein 1. No specific genotype-phenotype correlations have been identified except for the following. The vast majority of individuals with single-nucleotide variants have normal intelligence. The risk for developmental delay in individuals with deletions involving TWIST1 is approximately 90%, or eightfold greater than in individuals with intragenic pathogenic variants ; individuals with a TWIST1 deletion and normal development have been reported .

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 Robinow-Sorauf syndrome. 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 Robinow-Sorauf syndrome.

2 publications have been identified in PubMed for Robinow-Sorauf syndrome. Research spans Case Report / Case Series (50%) and Basic Science / Preclinical (50%).

Recent Publications

Silvey S (2025). [PMID: 41010008](https://pubmed.ncbi.nlm.nih.gov/41010008/). *Genes (Basel)*. [Case Report / Case Series]
Dhiman S (2024). [PMID: 39502847](https://pubmed.ncbi.nlm.nih.gov/39502847/). *J Pediatr Genet*. [Basic Science / Preclinical]

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 2:56 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:180750

Orphanet

European rare disease database

Orphanet:3106

GARD

Genetic and Rare Diseases Info Center

GARD:4730

Questions for Your Care Team

→Should I pursue genetic testing for TWIST1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

FAQ

Frequently Asked Questions

Common questions about Robinow-Sorauf syndrome

Robinow-Sorauf syndrome is a rare condition that is recognized by its association with the TWIST1 gene. It is also known by other names including acrocephalosyndactyly, Robinow-Sorauf type, and craniosynostosis-bifid hallux syndrome. Detailed general information about the features of this syndrome is limited, but the involvement of TWIST1 and its connection to other cranial and skeletal features is noted in medical databases such as OMIM, Orphanet, and GARD. People with this condition may be identified in clinical settings based on a collection of physical traits, although a comprehensive definition and description of the disorder are not yet widely available. Information provided by trusted sources, including the OMIM entry (OMIM:180750), Orphanet (Orphanet:3106), and GARD (GARD:4730), has been used to compile this summary.

Information about symptoms is currently limited for this condition.

Research indicates that variants in the TWIST1 gene are associated with Robinow-Sorauf syndrome. This genetic involvement suggests that the condition may be caused by mutations or alterations in this gene. However, detailed information about the exact genetic mechanism or other potential contributing factors is limited. Associated genes include TWIST1.

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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

Robinow-Sorauf syndrome

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Robinow-Sorauf syndrome

Overview

Clinical Presentation

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is Robinow-Sorauf syndrome?

What are the symptoms of Robinow-Sorauf syndrome?

What causes Robinow-Sorauf syndrome?

How is Robinow-Sorauf syndrome inherited?

How is Robinow-Sorauf syndrome diagnosed?

Are there treatments for Robinow-Sorauf syndrome?

What complications might arise from Robinow-Sorauf syndrome?

How does Robinow-Sorauf syndrome affect daily life for patients?

What is the life expectancy for someone with Robinow-Sorauf syndrome?

Are there specialists that families should consult for Robinow-Sorauf syndrome?

Clinical Guidance

Explore clinical features

Penetrance

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials