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hereditary otorhinolaryngologic disease - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary otorhinolaryngologic disease

MONDO:0018751

Also known as:genetic otorhinolaryngologic disease

Overview

An instance of otorhinolaryngologic disease that is caused by a modification of the individual's genome.

OnsetCONGENITAL

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.

Age of onset: at birth.

GeneReviews

Clinical Guidance

Manitoba Oculotrichoanal (MOTA) Syndrome

Ocular abnormalities include ipsilateral colobomas of the upper eyelid (sometimes referred to as a Tessier number 10 cleft), corneopalpebral synechiae (i.e., adhesions between the eyelids and the cornea, also known as abortive cryptophthalmos), and microphthalmia/anophthalmia and/or cryptophthalmos. Anomalies may be unilateral or bilateral; the severity may differ between the two eyes. Visual impairment may result directly from the ocular malformations or indirectly from exposure keratopathy. The long-term visual outcome depends on the severity of the ocular malformations and is poor for individuals with bilateral complete cryptophthalmos. In those with milder ocular malformations, such as upper eyelid colobomas, vision is typically intact.

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

No consensus clinical diagnostic criteria for FREM1 autosomal recessive disorders have been published.

Suggestive Findings

A FREM1 autosomal recessive disorder should be suspected in an individual with clinical findings and/or family history of Manitoba oculotrichoanal (MOTA) syndrome, bifid nose with or without anorectal and renal anomalies (BNAR) syndrome, or congenital anomalies of kidney and urinary tract (CAKUT).

MOTA syndrome

Source: GeneReviews — "FREM1 Autosomal Recessive Disorders"

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 hereditary otorhinolaryngologic disease. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for FREM1 autosomal recessive 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 a FREM1 autosomal recessive disorder, the evaluations summarized in , , or (depending on the phenotype), 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 7.

FREM1 Autosomal Recessive Disorders: Recommended Surveillance

System/Concern | Evaluation | Frequency

Kidney malformations

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 hereditary otorhinolaryngologic disease.

289 publications have been identified in PubMed for hereditary otorhinolaryngologic disease. Research spans Review / Meta-Analysis (21%), Basic Science / Preclinical (20%), and Epidemiology / Natural History (18%).

Research Type	Count	% of Total
Research summaries	53	21%

Data assembled from 4 of 12 sources · Last updated Sep 20, 2026, 2:14 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:466084

GARD

Genetic and Rare Diseases Info Center

GARD:21935

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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GeneReviews

Differential Diagnosis

Disorders of known genetic cause in the differential diagnosis of Manitoba oculotrichoanal (MOTA) syndrome and bifid nose with or without anorectal and renal anomalies (BNAR) syndrome are listed in . Table 2. Genes of Interest in the Differential Diagnosis of MOTA Syndrome and BNAR Syndrome

Gene(s)	Disorder	MOI	Features of Disorder
ALX4	Frontonasal dysplasia (OMIM PS136760)	AR	Widely spaced eyes; Broad forehead; Widow's peak; Broad nasal root; absence of nasal tip formation; unilateral/bilateral cleft ala nasi1
EFNB1	Craniofrontonasal dysplasia (OMIM 304110)	XL	In females:3; Widely spaced eyes; Broad nasal bridge, bifid nasal tip
GRIP1	Fraser syndrome (OMIM PS219000)	AR	Anophthalmia/microphthalmia, cryptophthalmos, eyelid colobomas, widely spaced eyes; Wedge-shaped lateral anterior hairline; Bifid nasal tip/ notched ala nasi; Anal stenosis or imperforate anus4
Donnai-Barrow syndrome	AR	Widely spaced eyes; Omphalocele	Agenesis of corpus callosum; Sensorineural hearing loss; Diaphragmatic hernia
MED12	FG syndrome type 1 (See MED12-Related Disorders.)	XL	In male infants:; Widely spaced eyes; Anteriorly placed anus, anal stenosis
SALL1-related Townes-Brocks syndrome	AD	Anteriorly placed anus, imperforate anus, anal stenosis AD = autosomal dominant; AR = autosomal recessive; BNAR = bifid nose with or without anorectal and renal anomalies; MOI = mode of inheritance; MOTA = Manitoba oculotrichoanal; XL = X-linked 1. 2.	—

Source: GeneReviews — "FREM1 Autosomal Recessive Disorders"

Kisho

hereditary otorhinolaryngologic disease

Overview

Clinical Presentation

Clinical Guidance

Manitoba Oculotrichoanal (MOTA) Syndrome

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Kidney malformations

Research Landscape

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Ocular

Gastrointestinal

Kidneys

Genetic counseling

Therapies Under Investigation

Clinical Trials

Family/Community

Recent Publications

hereditary otorhinolaryngologic disease

Overview

Clinical Presentation

Clinical Guidance

Manitoba Oculotrichoanal (MOTA) Syndrome

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Kidney malformations

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Ocular

Gastrointestinal

Kidneys

Genetic counseling

Therapies Under Investigation

Clinical Trials

Family/Community

Recent Publications