How is acrofacial dysostosis diagnosed?

Information about how acrofacial dysostosis is diagnosed is currently limited for this condition.

Are there treatments for acrofacial dysostosis?

Information about treatment options and management is currently limited for this condition.

What complications might arise from acrofacial dysostosis?

Information about complications from acrofacial dysostosis is currently limited. However, some individuals with this condition may face challenges related to facial and limb development. These challenges can affect daily activities and may require additional support or care.

How does acrofacial dysostosis affect daily life?

Daily life for someone with acrofacial dysostosis can vary greatly depending on the severity of their symptoms. Some individuals may need assistance with certain tasks, while others may adapt well. It's important for families to work together to find strategies that help manage daily activities.

What is the life expectancy for someone with acrofacial dysostosis?

Currently, there is limited information about the life expectancy for individuals with acrofacial dysostosis. The outlook can depend on the specific symptoms and complications a person may experience. Regular medical care and support can help improve quality of life.

Are there any specialists I should consult for acrofacial dysostosis?

While specific recommendations for specialists are not detailed, individuals with acrofacial dysostosis may benefit from consulting healthcare providers who specialize in genetic disorders or craniofacial conditions. These specialists can help manage symptoms and provide support tailored to the individual's needs.

Kisho

Kisho is an information platform, not a medical provider. Nothing on this site constitutes medical advice, diagnosis, or treatment recommendations. All content is aggregated from publicly available sources (including ClinicalTrials.gov, PubMed, FDA.gov, and Orphanet) and is provided for informational purposes only. Clinical trial eligibility, treatment decisions, and any health-related actions should always be discussed with a qualified healthcare professional. Kisho does not endorse any specific therapy, organization, or clinical trial. Terms of use · Privacy policy

acrofacial dysostosis - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

acrofacial dysostosis

MONDO:0018237

Find Clinical TrialsTrials

Overview

Clinical Trials1 registered · 1 recruiting

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

Mandibulofacial dysostosis with microcephaly (MFDM) is a multiple malformation syndrome comprising craniofacial skeletal anomalies, microcephaly, developmental delay / intellectual disability, abnormalities of the ears and hearing, and, in some instances, extracranial malformations (esophageal atresia, congenital heart defects, thumb anomalies), and/or short stature. To date, 126 individuals have been identified with a pathogenic variant in EFTUD2 [, , , , , , , , , , , , , , , , , , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Mandibulofacial Dysostosis with Microcephaly: Frequency of Select Features

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

Mandibulofacial dysostosis with microcephaly (MFDM) should be suspected in individuals with mandibulofacial dysostosis (a developmental disorder of the first and second branchial arches characterized by malar and maxillary hypoplasia) in the context of one or more additional features, including:

Source: GeneReviews — "Mandibulofacial Dysostosis with Microcephaly"

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 acrofacial dysostosis. 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 mandibulofacial dysostosis with microcephaly (MFDM), the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Table 4.

Recommended Evaluations Following Initial Diagnosis in Individuals with Mandibulofacial Dysostosis with Microcephaly

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 6. Recommended Surveillance for Individuals with MFDM

System/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.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

18 publications have been identified in PubMed for acrofacial dysostosis. Research spans Basic Science / Preclinical (56%), Review / Meta-Analysis (22%), and Case Report / Case Series (11%).

Research Type	Count	% of Total
Laboratory research	10	56%

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 12:09 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:364574

GARD

Genetic and Rare Diseases Info Center

GARD:21574

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→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 acrofacial dysostosis

Information about acrofacial dysostosis is currently limited for this condition. At this time, details about the overall presentation and background of acrofacial dysostosis are not extensively documented in the provided sources.

Information about symptoms is currently limited for this condition.

Information about causes, genetics, and risk factors is currently limited for this condition. Associated genes include EFTUD2, ZSWIM6, DHODH, EVC, EVC2.

← Back to All Diseases

Feature	% of Personsw/Feature	Comment
differences	Malar hypoplasia	92%
Micrognathia / Mandibularhypoplasia	93%	—
Cleft palate	43%	—
Choanal atresia	30%	—
Facial asymmetry	58%	—
Microcephaly	87%	Occipitofrontal circumference ≥2 SD below mean
Developmental delay / Intellectual disability	97%	Severity varies (may be mild, moderate, or severe; critical sequelae (e.g. neonatal airway compromise, cardiac anomalies) may affect developmental outcome. Ear malformations
hearing loss	Microtia / Dysplastic pinna(e)	97%
Auditory canal atresia or stenosis	68%	—
Preauricular tag	50%	—
Hearing loss	83%	—
Other findings	Cardiac anomalies	35%
Thumb anomalies	34%	Typically proximally placed; uncommonly, preaxial polydactyly or hypoplasia
Esophageal atresia /Tracheoesophageal fistula	33%	—
Short stature	30%	—
Spine anomalies	28%	Incl scoliosis, kyphosis, hemivertebrae, cervical segmentation anomalies
Epilepsy	26%	Mandibulofacial dysostosis is characterized by malar and maxillary hypoplasia. Cleft palate in MFDM occurs as a Pierre Robin sequence, characterized by a midline bony defect without accompanying cleft lip. Submucous cleft has also been described.

Kisho

acrofacial dysostosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Differential Diagnosis

DHODH

TCOF1

DD/ID

Hearing loss

EA/TEF

Cardiac anomaly

Renal anomaly

Short stature

Therapies Under Investigation

Clinical Trials

Recent Publications

acrofacial dysostosis

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is acrofacial dysostosis?

What are the symptoms of acrofacial dysostosis?

What causes acrofacial dysostosis?

How is acrofacial dysostosis diagnosed?

Are there treatments for acrofacial dysostosis?

What complications might arise from acrofacial dysostosis?

How does acrofacial dysostosis affect daily life?

What is the life expectancy for someone with acrofacial dysostosis?

Are there any specialists I should consult for acrofacial dysostosis?

Differential Diagnosis

DHODH

TCOF1

DD/ID

Hearing loss

EA/TEF

Cardiac anomaly

Renal anomaly

Short stature

Therapies Under Investigation

Clinical Trials

Recent Publications