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otopalatodigital syndrome spectrum disorder - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

otopalatodigital syndrome spectrum disorder

MONDO:0018233

Also known as:OPD spectrum disorderOPSD

Overview

Otopalatodigital syndrome spectrum disorder is a primary bone dysplasia and encompasses a group of congenital anomalies that are characterized by skeletal dysplasia of varying clinical severity and an X linked dominant pattern of inheritance. This group include otopalatodigital syndrome type 1 and 2 (OPD1, OPD2) which are characterized in affected males by cleft palate, conductive hearing loss, craniofacial abnormalities and skeletal dysplasia; Melnick-Needles syndrome (MNS) which displays skeletal deformities in females and embryonic or perinatal lethality in most males; frontometaphyseal dysplasia (FMD); and terminal osseous dysplasia - pigmentary defects.

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

The FLNA-related otopalatodigital (FLNA-OPD) spectrum disorders, characterized primarily by skeletal dysplasia, include the following allelic conditions: otopalatodigital syndrome type 1 (FLNA-OPD1), otopalatodigital syndrome type 2 (FLNA-OPD2), frontometaphyseal dysplasia type 1 (FLNA-FMD), Melnick-Needles syndrome (FLNA-MNS), and terminal osseous dysplasia (FLNA-TOD). To date, more than 500 individuals with an FLNA-OPD spectrum disorder have been identified [, , , , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 4. FLNA-Related Otopalatodigital Spectrum Disorders: 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

The FLNA-related otopalatodigital (FLNA-OPD) spectrum disorders, a heterogeneous group of disorders characterized primarily by a skeletal dysplasia of variable severity, include the following:

Otopalatodigital syndrome type 1 (FLNA-OPD1)
Otopalatodigital syndrome type 2 (FLNA-OPD2)
Frontometaphyseal dysplasia type 1 (FLNA-FMD)

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 otopalatodigital syndrome spectrum disorder. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for FLNA-related otopalatodigital (FLNA-OPD) spectrum 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 FLNA-OPD spectrum 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 8. FLNA-Related Otopalatodigital Spectrum 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 otopalatodigital syndrome spectrum disorder.

19 publications have been identified in PubMed for otopalatodigital syndrome spectrum disorder. Research spans Epidemiology / Natural History (39%), Case Report / Case Series (22%), and Review / Meta-Analysis (17%).

Research Type	Count	% of Total
Disease patterns and progression	7	39%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 8:42 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:364541

GARD

Genetic and Rare Diseases Info Center

GARD:21570

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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Disorder	Feature	% of Persons w/Feature
(in males)	Digital anomalies	100% Deafness
(in males)	Thoracic hypoplasia	100% Cleft palate
(in males)	Supraorbital hyperostosis	100% Urinary tract obstruction
(in females)	Micrognathia	100% Limb bowing
(in females)	Digital fibromata	100% Erosive changes on radiographs

GeneReviews

Differential Diagnosis

Skeletal dysplasias of interest in the differential diagnosis of FLNA-related otopalatodigital (FLNA-OPD) spectrum disorders are listed in . Table 5. Genes of Interest in the Differential Diagnosis of FLNA-Related Otopalatodigital Spectrum Disorders

Gene	Disorder	MOI	Features of Disorder
Osteopathia striata w/cranial sclerosis	XL	In males: similar skeletal dysplasia to that in FLNA-OPD2; Occasionally, extraskeletal anomalies similar to those in FLNA-OPD2	In females: striations of long bones, macrocephaly, deafness
FLNB	Larsen syndrome (LS) atelosteogenesis type III (AOIII) (See FLNB Disorders.)	AD	Similar facial features to those in FLNA-OPD1 FLNA-FMD; Cleft palate, hearing loss, spatulate fingers toes
MAP3K7	MAP3K7-FMD (OMIM 617137)	AD	Very similar to FLNA-FMD
NOTCH2	Serpentine fibula-polycystic kidney disease (Hajdu-Cheney syndrome) (OMIM 102500)	AD	Bowing of long bones, esp fibula
SH3PXD2B	Frank-ter Haar syndrome (OMIM 249420)	AR	Skeletal dysplasia similar to but considerably milder than FLNA-MNS
SKI	Shprintzen-Goldberg syndrome (SGS)	AD	Skeletal dysplasia similar to FLNA-MNS FLNA-FMD (e.g., tall, square-shaped vertebrae; bowed tibiae; occasionally, fusion of upper cervical vertebrae)
TAB2	-FMD1	AD	Very similar to FLNA-FMD

Source: GeneReviews — "FLNA-Related Otopalatodigital Spectrum Disorders"

Kisho

otopalatodigital syndrome spectrum disorder

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

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

Suggestive Findings

Differential Diagnosis

Musculoskeletal

Craniofacial

Respiratory

Cardiac

Dental

Genitourinary

Therapies Under Investigation

Clinical Trials

Recent Publications

otopalatodigital syndrome spectrum disorder

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

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

Suggestive Findings

Differential Diagnosis

Musculoskeletal

Craniofacial

Respiratory

Cardiac

Dental

Genitourinary

Therapies Under Investigation

Clinical Trials

Recent Publications