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retinal ciliopathy - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

retinal ciliopathy

MONDO:0022410

Overview

OnsetCONGENITAL, CHILDHOOD, JUVENILE

ResearchLimited published research (7 articles)

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, childhood, adolescence.

GeneReviews

Clinical Guidance

The diagnosis of oral-facial-digital syndrome type I (OFD1) is suspected at birth in some infants on the basis of characteristic oral, facial, and digital anomalies; in other instances, the diagnosis is suspected only after polycystic kidney disease is identified in later childhood or adulthood. Almost all affected individuals with OFD1 are female; however, a few affected males have been reported. Most affected males are described as malformed fetuses delivered by a female with OFD1. To date, 234 individuals have been identified with a pathogenic variant in OFD1 . The following description of the phenotypic features associated with this condition is based on these reports. Table 2. Oral-Facial-Digital Syndrome Type I: 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

No consensus clinical diagnostic criteria for oral-facial-digital syndrome type I (OFD1) have been published.

Suggestive Findings

OFD1 should be suspected in females with typical oral, facial, and digital findings, polycystic kidney disease, and/or milia. The oral, facial, and digital findings are also found in other oral-facial-digital syndromes. OFD1 is characterized by renal cystic disease in approximately 50% of individuals and by the X-linked inheritance pattern in families with more than one affected individual. Almost all individuals with OFD1 are female; however, a few affected males have been reported. Most affected males are described as malformed fetuses delivered by an affected female.

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 retinal ciliopathy. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for oral-facial-digital syndrome type I (OFD1) have been published. Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with OFD1, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Oral-Facial-Digital Syndrome Type I: Recommended Evaluations

Prognosis

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

GeneReviews

Surveillance Guidelines

Table 7. Oral-Facial-Digital Syndrome Type I: Recommended Surveillance

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.

No clinical trials have been registered for retinal ciliopathy.

7 publications have been identified in PubMed for retinal ciliopathy. Research spans Basic Science / Preclinical (57%), Clinical Trial Publication (29%), and Case Report / Case Series (14%).

Recent Publications

Fatima S (2026). [PMID: 41686921](https://pubmed.ncbi.nlm.nih.gov/41686921/). *Genetics and molecular biology*. [Basic Science / Preclinical]
Aleman TS (2025). [PMID: 40598770](https://pubmed.ncbi.nlm.nih.gov/40598770/). *Molecular therapy : the journal of the American Society of Gene Therapy*. [Clinical Trial Publication]
Yin J (2025). [PMID: 40270641](https://pubmed.ncbi.nlm.nih.gov/40270641/). *Journal of cell communication and signaling*. [Clinical Trial Publication]
Liu S (2025). [PMID: 40663603](https://pubmed.ncbi.nlm.nih.gov/40663603/). *Proceedings of the National Academy of Sciences of the United States of America*. [Basic Science / Preclinical]
Liu X (2024). [PMID: 39060957](https://pubmed.ncbi.nlm.nih.gov/39060957/). *Molecular medicine (Cambridge, Mass.)*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 18, 2026, 3:21 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:156165

GARD

Genetic and Rare Diseases Info Center

GARD:19987

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?

← Back to All Diseases

Feature	% of Persons w/Feature	Comment
Oral manifestations	97%-100%	Dental tongue abnormalities, aberrant oral frenulae, bifid uvula
Facial features	60%-80%	Dysmorphisms, frontal bossing, cleft lip/ pseudocleft of upper lip
Digit anomalies	50%-60%	Syndactyly, clinodactyly, polydactyly, brachydactyly
Brain malformations	65%	Hydrocephalus, porencephaly, corpus callosum abnormalities, cortical dysgenesis
Polycystic kidney disease	50%	—
Intellectual disability	~50%	Mild to severe
Milia	10%	Oral manifestations. The tongue is lobulated. Tongue nodules, which are usually hamartomas or lipomas, also occur in at least one third of individuals with OFD1. Ankyloglossia attributable to a short lingual frenulum is common.

GeneReviews

Differential Diagnosis

The differential diagnosis of oral-facial-digital syndrome type I (OFD1) includes other oral-facial-digital syndromes and cystic renal diseases. Table 4. Genes of Interest in the Differential Diagnosis of Oral-Facial-Digital Syndrome Type I

Gene(s)	Disorder	MOI	Distinctive Features/ Comment
C2CD3	C2CD3-related OFD(OMIM 615948)/JS-OFD	AR	Severe microcephaly ID. Brain MRI shows vermis hypoplasia MTS.
CEP164	CEP164-related OFD1	AR	Postaxial polydactyly, hypotonia, cerebral malformations, hydronephrosis, urogenital abnormalities. (CEP164 is also assoc w/nephronophthisis.)
CLUAP1	CLUAP1-relatedJS-OFD2	AR	Epiglottis cleft, short limbs, ID. Brain MRI shows MTS. One individual reported to date.
CPLANE1(C5orf42)	CPLANE1-related OFD (OMIM 277170)/ JS-OFD	AR	Polydactyly (particularly central) cerebellar malformations. Renal agenesis dysplasia have been described. Brain MRI may show MTS.3
DDX59	DDX59-related OFD (OMIM 174300)	AR	Polydactyly median cleft lip only. Hyperplastic frenula reported in 1 person.
FAM149B1	FAM149B1-related JS (OMIM 618763)	AR	Macrocephaly. Brain MRI shows MTS. Reported in 1 family to date.
IFT57	IFT57-related OFD (OMIM 617927)	AR	Short stature, skeletal dysplasia, brachymesophalangia
INTU	INTU-related OFD (OMIM 617926)	AR	Cardiac defects, deafness, polydactyly. (Also assoc w/INTU-related SRPS [OMIM 617925].)
KIAA0753(OFIP)	KIAA0753-related OFD (OMIM 617127)	AR	Polydactyly (particularly postaxial). Brain MRI shows vermis hypoplasia MTS. (Also assoc w/KIAA0753-related short-rib thoracic dysplasia [OMIM 619479] JS [OMIM 619476].)
NEK1	NEK1-related OFD2 (Mohr syndrome)4	AR	Dental agenesis, maxillary hypoplasia, conductive hearing loss, bilateral tortuosity of retinal veins. (Also assoc w/NEK1-related SRPS [OMIM 263520].)
SCLT1	SCLT1-related OFD4	AR	Microcephaly, coloboma, choanal atresia, congenital heart disease, agenesis of corpus callosum
SCNM1	SCNM1-related OFD (OMIM 620107)	AR	Postaxial polydactyly, tongue nodules, abnormalities of incisors, cleft palate, retrognathia
TBC1D32	TBC1D32-related OFD4	AR	Microcephaly, coloboma, choanal atresia, agenesis of corpus callosum, congenital heart disease, seizures. 1 person described to date.
TCTN1	TCTN1-related JS	AR	Polydactyly cerebellar malformations
TCTN3	TCTN3-related OFD4(Mohr-Majewski)(OMIM 258860)/JS-OFD	AR	Tibial involvement polydactyly are primary manifestations. Micrognathia. Other findings incl pectus excavatum short stature.
TMEM107	TMEM107-related OFD (OMIM 617563)/ JS-OFD	AR	Postaxial polydactyly. ID. Brain MRI shows vermis hypoplasia MTS.
TMEM138	TMEM138-related OFD4	AR	Brain MRI shows vermis hypoplasia MTS.

Source: GeneReviews — "Oral-Facial-Digital Syndrome Type I"

System/Concern	Evaluation	Comment
ENT	Exam for oral manifestations that may affect feeding speech	—
Dental	Dental eval	—
Digit anomalies	Assess for digit anomalies.	Neurologic
Behavior	Formal, age-appropriate assessment of development behavior	—
Hearing	Audiology eval if cleft palate is present	—
Genetic counseling	By genetics professionals1	To inform affected persons their families re nature, MOI, implications of OFD1 to facilitate medical personal decision making Family support resources
Oral-Facial-Digital Syndrome Type I: Treatment of Manifestations Manifestation/Concern	Treatment	Considerations/Other Oral manifestations
Polydactyly	Surgical repair as recommended by orthopedist	—
Seizures	Standardized treatment w/ASM by experienced neurologist	Many ASMs may be effective; none has been demonstrated effective specifically for this disorder.; Education of parents/caregivers1
Renal disease	Routine mgmt of renal disease, which may require hemodialysis or peritoneal dialysis renal transplantation	Development/ Behavioral manifestations
Hearing impairment	Hearing aids may be helpful per otolaryngologist.	Community hearing services through early intervention or school district ADHD = attention-deficit/hyperactivity disorder; ASM = anti-seizure medication; IEP = individualized education plan Education of parents/caregivers regarding common seizure presentations is appropriate.
Oral-Facial-Digital Syndrome Type I: Recommended Surveillance System/Concern	Evaluation	Frequency
ENT	Assessment of speech development frequency of ear infections	Annually in children if cleft lip /or cleft palate is present
Dental	Dental eval	Annually or as recommended by dentist in presence of dental abnormalities
Neurologic	Assess for new seizures or changes in seizures.	As recommended by neurologist in those w/brain involvement Renal

Kisho

retinal ciliopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials

retinal ciliopathy

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Therapies Under Investigation

Clinical Trials