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atelosteogenesis type II (AO2) - Clinical Profile, Genes & Research | Kisho | Kisho

Features include always present findings: Hitchhiker thumb and Increased intervertebral space. 28 total HPO annotations.

Organ System	Phenotype Count	Example Features
Bones and joints	6	Excessive inward curve of the lower back (lumbar hyperlordosis), Dumbbell-shaped femur, Sideways curvature of the spine (scoliosis)
Lungs and breathing	2	Pulmonary hypoplasia, Difficulty breathing (respiratory insufficiency)
Head and neck	2	Cleft palate, Coronal cleft vertebrae
Arms and legs	2	Limb undergrowth, Short middle phalanx of finger
Brain and nerves	1	Depressed nasal bridge

Age of onset: at birth, newborn period.

GeneReviews

Clinical Guidance

To date, only a handful of individuals with SLC26A2-related atelosteogenesis have been reported . The following description of the phenotypic features associated with this condition is based on these reports. The diagnosis of SLC26A2-related atelosteogenesis should be made only if specific SLC26A2 pathogenic variants that are associated with SLC26A2-related atelosteogenesis have been identified, and/or the clinical and radiographic severity lies somewhere between SLC26A2-related achondrogenesis and SLC26A2-related diastrophic dysplasia (SLC26A2-DTD) . It follows, then, that the diagnosis of SLC26A2-related atelosteogenesis will only apply to a fetus/individual with severe prenatal-onset short stature.

Source: GeneReviews — "SLC26A2-Related Atelosteogenesis"

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

SLC26A2-related atelosteogenesis is usually lethal at birth or shortly thereafter because of pulmonary hypoplasia and tracheobronchomalacia. SLC26A2-related atelosteogenesis should be suspected when the following are present.

Clinical features

Rhizomelic limb shortening with normal-sized skull
Hitchhiker thumbs
Small chest
Protuberant abdomen
Cleft palate
Distinctive facial features (midface retrusion, depressed nasal bridge, epicanthus, micrognathia)

Other usual findings are ulnar deviation of the fingers, gap between the first and second toes, and clubfoot.

Radiographic findings

Source: GeneReviews — "SLC26A2-Related Atelosteogenesis"

GeneReviews

Differential Diagnosis

SLC26A2-related achondrogenesis and SLC26A2-related diastrophic dysplasia have phenotypic overlap with SLC26A2-related atelosteogenesis (and should be considered in the differential diagnosis . The differentiation of SLC26A2-related atelosteogenesis from other subtypes of atelosteogenesis ("incomplete bone formation"), and even from other lethal skeletal dysplasias, should be based on clinical examination as well as radiographic imaging. Table 3. Genes of Interest in the Differential Diagnosis of SLC26A2-Related Atelosteogenesis

Gene(s)	Differential Disorder	MOI	Differentiating Clinical Radiographic Features
FLNB	FLNB-related AO1 (FLNB-AOI) (See FLNB Disorders.)	AD	Hitchhiker thumb gap between toes are not present in FLNB-AO1 cleft palate is rare.; FLNB-AO1 shows better development of long bones better ossification of spine pelvis.; Absence of fibula may suggest FLNB-AO1; dysplasia of fibula is more typical of SLC26A2-related atelosteogenesis.

Genetic testing for SLC26A2 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for atelosteogenesis type II has been reported in the published literature.

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 II. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

There is no specific treatment available. Decisions regarding supportive therapy versus palliative treatment depend on the degree of respiratory compromise at birth. Evaluations Following Initial Diagnosis To establish the extent of disease in an individual diagnosed with SLC26A2-related atelosteogenesis, 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 SLC26A2-Related Atelosteogenesis

System/Concern	Evaluation	Comment
Musculoskeletal	Complete skeletal survey in viable newborn	—
Pulmonary	Eval of respiratory status in viable newborn	Genetic
counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of SLC26A2-related atelosteogenesis to facilitate medical personal decision making MOI = mode of inheritance 1.

Source: GeneReviews — "SLC26A2-Related Atelosteogenesis"

GeneReviews

Therapies Under Investigation

Search ClinicalTrials.gov in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Source: GeneReviews — "SLC26A2-Related Atelosteogenesis"

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atelosteogenesis type II

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atelosteogenesis type II

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team