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atelosteogenesis type I (AO1) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

atelosteogenesis type I

MONDO:0007167

Also known as:AO1AOIatelosteogenesis type 1

Overview

A perinatally lethal skeletal dysplasia characterized by severe short-limbed dwarfism, joint dislocations, club feet along with distinctive facies and radiographic findings.

GeneticsSporadic (not inherited), Autosomal dominant · FLNB (chr 3)

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: Thoracic hypoplasia, Short finger, Hypertelorism, and Vertebral hypoplasia and others. 49 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	6	Vertebral hypoplasia, Fused cervical vertebrae, Club-shaped proximal femur

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.

FLNB encodes filamin B (2,602 aa). Connects cell membrane constituents to the actin cytoskeleton. May promote orthogonal branching of actin filaments and links actin filaments to membrane glycoproteins. Highest expression in Nerve Tibial (192.4 TPM) and Uterus (108.4 TPM).

Atelosteogenesis type I is associated with mutations in the FLNB gene on chromosome 3.

FLNB is classified as a druggable target (Transporter category) with score 0.0.

GeneReviews

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

Formal diagnostic criteria for FLNB-related disorders have not been established. The FLNB-related disorders can be divided into two groups of conditions caused by loss of function or gain of function of filamin-B. Biallelic loss-of-function pathogenic variants in FLNB cause spondylocarpotarsal synostosis syndrome (FLNB-SCT). Monoallelic gain-of-function pathogenic variants in FLNB cause a spectrum of phenotypic severity ranging from apparently isolated clubfoot to Larsen syndrome (FLNB-LS), atelosteogenesis type 3 (FLNB-AO3), and atelosteogenesis type 1 (FLNB-AO1), which is perinatal lethal. For the purposes of this GeneReview, the previously described entities Piepkorn dysplasia and boomerang dysplasia are subsumed under the FLNB-AO1 spectrum.

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 atelosteogenesis type I. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for FLNB-related disorders have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with an FLNB-related disorder, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

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

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 6. FLNB-Related Disorders: Recommended Surveillance

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 atelosteogenesis type I.

102 publications have been identified in PubMed for atelosteogenesis type I. Kisho has analyzed 62 by research type. Research spans Review / Meta-Analysis (50%), Epidemiology / Natural History (23%), and Diagnostic / Biomarker (8%).

Research Type	Count	% of Total
Research summaries	31	50%

Data assembled from 7 of 12 sources · Last updated Sep 19, 2026, 12:58 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:108720

Orphanet

European rare disease database

Orphanet:1190

GARD

Genetic and Rare Diseases Info Center

GARD:9287

Questions for Your Care Team

→Should I pursue genetic testing for FLNB, 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?

← Back to All Diseases

GeneReviews

Differential Diagnosis

FLNB-related spondylocarpotarsal synostosis syndrome. See . Table 2. Genes of Interest in the Differential Diagnosis of FLNB-Related Spondylocarpotarsal Synostosis Syndrome

Gene(s)	Disorder	MOI	Features of Disorder
TBX6	Spondylocostal dysostosis (See Spondylocostal Dysostosis, Autosomal Recessive.)	AR(AD)1	Vertebral dysplasia
Rib anomalies FGF9GDF5GDF6NOG	Multiple synostoses syndrome (OMIM PS186500)	AD	Vertebral dysplasia
GDF6	GDF6-related Klippel-Feil syndrome (OMIM 118100)	AD	Vertebral, carpal, tarsal fusions
MYH3	MYH3-related SCT w/contractures pterygia (OMIM 178110 618469)	ADAR	Vertebral, carpal, tarsal fusions
RFLNA	RFLNA-related SCT2	AR	Vertebral, carpal, tarsal fusions
Genes of Interest in the Differential Diagnosis of FLNB-Related Larsen Syndrome Gene	Disorder	MOI	Features of Disorder Overlapping w/FLNB-LS
B3GAT3	B3GAT3-related multiple joint dislocations, short stature, craniofacial dysmorphisms, skeletal dysplasia, w/ or w/o heart defects (OMIM 245600)	AR	Joint dislocations
B4GALT7	B4GALT7-related Ehlers-Danlos syndrome, spondylodysplastic type 1 (OMIM 130070)	AR	Joint dislocations
BPNT2(IMPAD1)	BPNT2-related chondrodysplasia w/congenital joint dislocations (OMIM 614078)	AR	Joint dislocations
CANT1	CANT1-related Desbuquois dysplasia (w/accessory ossification center in digit 2) (OMIM 251450)	AR	Joint dislocations
CHST3	CHST3-related chondrodysplasia w/congenital joint dislocations1	AR	Joint dislocations

Source: GeneReviews — "FLNB-Related Disorders"

Kisho

atelosteogenesis type I

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Orthopedic

Pulmonology

Audiology

Ophthalmology

Dental

Genetic counseling

Therapies Under Investigation

Clinical Trials

Recent Publications

atelosteogenesis type I

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Clinical Guidance

Penetrance

Differential Diagnosis

Orthopedic

Pulmonology

Audiology

Ophthalmology

Dental

Genetic counseling

Therapies Under Investigation

Clinical Trials

Recent Publications