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cataract 21 multiple types - Clinical Profile, Genes & Research | Kisho | Kisho

Features include common findings: Cortical pulverulent cataract; and sometimes findings: Cloudy or opaque cornea (corneal opacity), Retinal detachment, Microcornea, and Iris coloboma and others. 9 total HPO annotations.

Organ System	Phenotype Count	Example Features
Eyes	5	Cloudy or opaque cornea (corneal opacity), Retinal detachment, Cortical pulverulent cataract

Age of onset: adolescence.

GeneReviews

Clinical Guidance

Individuals with Aym-Gripp syndrome frequently have the triad of bilateral early cataracts, sensorineural hearing loss, and dysmorphic features that are often described as "Down syndrome-like" facies [, , , ]. To date, 21 affected individuals from 19 families have been reported . Clinical features in these individuals are summarized in . Table 2. Features of Aym-Gripp Syndrome

Feature	# of Personsw/Feature	Comment
Cataract	21/21	Often congenital but may be noted as late as young adulthood
Characteristic facial features	20/21	—
Sensorineural hearing loss	20/21	Typically congenital
DD / Cognitive impairment	20/21	Degree of cognitive impairment is highly variable.
Skeletal defects	20/21	Variably affecting skull, hip, limbs
Postnatal short stature

Source: GeneReviews — "Aym-Gripp Syndrome"

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

Aym-Gripp syndrome is classically defined as the triad of cataract, sensorineural hearing loss, and characteristic facial features in combination with neurodevelopmental abnormalities . Formal clinical diagnostic criteria for Aym-Gripp syndrome have not been established.

Suggestive Findings

Aym-Gripp syndrome should be suspected in individuals with the following major and minor clinical features and imaging findings.

Major clinical features

Source: GeneReviews — "Aym-Gripp Syndrome"

GeneReviews

Differential Diagnosis

Table 4. Disorders to Consider in the Differential Diagnosis of Aym-Gripp Syndrome

DiffDx Disorder	Gene(s)	MOI	Key Clinical Features of Differential Diagnosis Disorder
COL11A2	ADAR1	Cataract; Midface hypoplasia; Short stature; SNHL	Absence of congenital radio ulnar synostosis, pericardial effusion, ID/DD; Distinct facial features (incl malar hypoplasia, broad or flat nasal bridge, micro/retrognathia) Myhre syndrome
SMAD4	AD

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

Biomarker and diagnostic research for cataract 21 multiple types 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 cataract 21 multiple types. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis To establish the extent of disease and needs in an individual diagnosed with Aym-Gripp syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended. Table 5. Recommended Evaluations Following Initial Diagnosis in Individuals with Aym-Gripp Syndrome

System/Concern	Evaluation	Comment
Ears	Audiologic exam	To evaluate for hearing loss
Eyes	Ophthalmologic exam	To evaluate for cataracts vision
Development	Developmental assessment	To incl motor, adaptive, cognitive, speech/language eval; Eval for early intervention / special education
Psychiatric	Neuropsychiatric eval	In persons age 12 mos: screen for traits suggestive of ASD.
Neurologic	Neurologic eval	To incl EEG consideration of brain MRI if seizures are suspected
Skeletal	Consider radiographs of forearm, hand/foot, elbow, chest, spine, pelvis.	To assess for radioulnar synostosis, carpal/tarsal bone defects, radial/femoral head dislocation, pathologic fractures, scoliosis
Cardiac	Echocardiogram	To assess for pericardial effusion congenital heart defects
Dental	Dental eval	To assess for oligodontia other dental anomalies
Endocrine	Thyroid function tests1	To assess for hypothyroidism, particularly in those w/poor growth velocity Miscellaneous/
Other	Consultation w/clinical geneticist /or genetic counselor	To incl genetic counseling Family supports/resources
Treatment of Manifestations in Individuals with Aym-Gripp Syndrome Manifestation/Concern	Treatment	Considerations/Other
Sensorineural hearing loss	Hearing aids may be helpful as per otolaryngologist.1	Community hearing services through early intervention or school district
Cataracts / Refractive error	Surgical intervention eye glasses as per ophthalmologist	Consideration of early intervention to help stimulate visual development
DD/ID	See .	—
Seizures	Standardized treatment w/ASM by experienced neurologist.	Many different ASMs may be effective; none has been demonstrated effective specifically for this disorder.; Education of parents/caregivers2
Joint limitations	PT in children adults w/milder joint limitations involving knees, fingers, hips	Consider chondrolysis need for hip replacement in young adults.
Scoliosis	Standard treatment as per orthopedist	—
Congenital heart defects / Pericardial effusion	Standard treatment as per cardiologist	—
Oligodontia	Standard treatment as per orthodontist	—
Hypothyroidism	Standard treatment as per endocrinologist	ASM = anti-seizure medication; DD = developmental delay; ID = intellectual disability; PT = physical therapy 1. Cochlear implant has been used to treat severe hearing loss on occasion. Education of parents/caregivers regarding common seizure presentations is appropriate.

Source: GeneReviews — "Aym-Gripp Syndrome"

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 — "Aym-Gripp Syndrome"

Clinical Trials

View trials for cataract 21 multiple types

Explore Trials

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. Recommended Surveillance for Individuals with Aym-Gripp Syndrome

System/Concern	Evaluation	Frequency
Ears	Routine audiologic evals monitoring of hearing aid function	At least annually; more frequently as clinically indicated Eyes
Development	Monitor developmental progress educational needs.	At each visit Neurologic
Dental	Dental eval	Every 6 mos
Endocrine	Monitoring of thyroid function	As clinically indicated

Source: GeneReviews — "Aym-Gripp Syndrome"

Phenotype severity distribution: 1 common feature.

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 cataract 21 multiple types.

45 publications have been identified in PubMed for cataract 21 multiple types. Research spans Case Report / Case Series (42%), Review / Meta-Analysis (16%), and Clinical Trial Publication (16%).

Research Type	Count	% of Total
Patient case studies	19	42%
Research summaries	7	16%
Clinical study results	7	16%
Disease patterns and progression	6	13%
Laboratory research	3	7%
Other research	1	2%
Testing and diagnosis research	1	2%
New treatment approaches	1	2%

Recent Publications

Oshika T (2026). [PMID: 42091627](https://pubmed.ncbi.nlm.nih.gov/42091627/). *Sci Rep*. [Clinical Trial Publication]
Firn K (2026). [PMID: 40465813](https://pubmed.ncbi.nlm.nih.gov/40465813/). *Unknown Journal*. [Other]
Huang T (2026). [PMID: 41822754](https://pubmed.ncbi.nlm.nih.gov/41822754/). *Frontiers in genetics*. [Basic Science / Preclinical]
Viet J (2026). [PMID: 41542625](https://pubmed.ncbi.nlm.nih.gov/41542625/). *bioRxiv : the preprint server for biology*. [Basic Science / Preclinical]
Tsivitanidou E (2026). [PMID: 41870534](https://pubmed.ncbi.nlm.nih.gov/41870534/). *European journal of ophthalmology*. [Review / Meta-Analysis]
Maitra P (2026). [PMID: 40736062](https://pubmed.ncbi.nlm.nih.gov/40736062/). *Journal of pediatric ophthalmology and strabismus*. [Diagnostic / Biomarker]
Gorgi HA (2026). [PMID: 41885317](https://pubmed.ncbi.nlm.nih.gov/41885317/). *European journal of ophthalmology*. [Clinical Trial Publication]
Paredes-Hernández M (2026). [PMID: 41720340](https://pubmed.ncbi.nlm.nih.gov/41720340/). *Archivos de la Sociedad Espanola de Oftalmologia*. [Case Report / Case Series]
Kang S (2026). [PMID: 41236190](https://pubmed.ncbi.nlm.nih.gov/41236190/). *Ophthalmic genetics*. [Case Report / Case Series]
August AH (2025). [PMID: 39902400](https://pubmed.ncbi.nlm.nih.gov/39902400/). *American journal of ophthalmology case reports*. [Case Report / Case Series]

Kisho

cataract 21 multiple types

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Questions for Your Care Team

Questions for Your Care Team

cataract 21 multiple types

Overview

Clinical Presentation

Clinical Guidance

Explore clinical features

Genetic Landscape

Penetrance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Differential Diagnosis

Treatment

Management Guidelines

Therapies Under Investigation

Clinical Trials

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Related Diseases

Questions for Your Care Team

Questions for Your Care Team