How is ACD-related short telomere syndrome diagnosed?

Information about diagnosis is currently limited for this condition.

Are there treatments for ACD-related short telomere syndrome?

Information about treatment is currently limited for this condition.

What complications can arise from ACD-related short telomere syndrome?

ACD-related short telomere syndrome can lead to several serious health issues. These include conditions like dyskeratosis congenita, which affects the skin and nails, and pulmonary fibrosis, which impacts the lungs. Each person's experience may vary, and ongoing research is trying to understand these complications better.

How does ACD-related short telomere syndrome affect daily life?

Living with ACD-related short telomere syndrome can be challenging due to the potential for various health issues. People may need regular medical check-ups and monitoring for complications. It’s important to work closely with healthcare providers to manage symptoms and maintain a good quality of life.

What is the life expectancy for someone with ACD-related short telomere syndrome?

Information about life expectancy for ACD-related short telomere syndrome is currently limited. Since this condition can lead to serious health problems, the prognosis can vary widely among individuals. Ongoing research aims to provide more insights into the long-term outcomes for those affected.

Are there any specific specialists I should see for ACD-related short telomere syndrome?

It is important to consult with specialists who understand ACD-related short telomere syndrome and its associated conditions. Hematologists, pulmonologists, and geneticists may be particularly helpful in managing the various health issues linked to this syndrome. They can provide tailored care and support for affected individuals.

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ACD-related short telomere syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ACD-related short telomere syndrome

MONDO:0100569

Overview

A spectrum of conditions, including dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, hereditary aplastic anemia, and pulmonary fibrosis, typically characterized by shortened telomeres due to a pathogenic variant(s) in ACD that results in impaired telomere maintenance.

ResearchLimited published research (2 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.

GeneReviews

Clinical Guidance

The classic dyskeratosis congenita (DC) triad of abnormal fingernails and toenails, lacy, reticular pigmentation of the neck and upper chest, and oral leukoplakia is diagnostic; however, these features are not present in all individuals with DC and related telomere biology disorders (DC/TBD) and may or may not develop over time after the appearance of other complications listed here [, , , ]. The time of onset for these medical complications varies considerably among individuals even within the same family and thus the manifestations of DC/TBD do not progress in a predictable pattern.

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

Dyskeratosis congenita and related telomere biology disorders (DC/TBD) are caused by impaired telomere maintenance resulting in short or very short telomeres. The phenotypic spectrum of telomere biology disorders is broad and includes individuals with classic dyskeratosis congenita (DC) as well as those with very short telomeres and an isolated physical finding [, , , , , ]. The criteria for classic DC were described by ; see . Note, however, that individuals may develop features of a DC/TBD at variable rates and ages, which can make proper diagnosis challenging.

Suggestive Findings

A telomere biology disorder (TBD), including dyskeratosis congenita (DC), should be suspected in individuals with the following clinical findings. Physical characteristics. One of the following:

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 ACD-related short telomere syndrome. 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 dyskeratosis congenita (DC) or a related telomere biology disorder (TBD), it is important to note that the clinical spectrum of DC/TCB is broad and signs and symptoms develop at various ages and rates. 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 Dyskeratosis Congenita and Related Telomere Biology Disorders (DC/TBD)

Prognosis

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

GeneReviews

Surveillance Guidelines

The recommendations in this section were discussed at the first DC clinical research workshop in 2008 and updated in 2014 at a consensus conference that led to publication of the first edition of the Dyskeratosis Congenita and Telomere Biology Disorders: Diagnosis and Management Guidelines . Because of the rarity of DC/TBD, the recommendations are not based on large-scale clinical trials. Table 7. Recommended Surveillance for Individuals with Dyskeratosis Congenita and Related Telomere Biology Disorders (DC/TBD)

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 ACD-related short telomere syndrome.

2 publications have been identified in PubMed for ACD-related short telomere syndrome. Research spans Review / Meta-Analysis (100%).

Recent Publications

Savage SA (2025). [PMID: 39462986](https://pubmed.ncbi.nlm.nih.gov/39462986/). *British journal of haematology*. [Review / Meta-Analysis]
Rolles B (2024). [PMID: 39371255](https://pubmed.ncbi.nlm.nih.gov/39371255/). *Transfusion medicine and hemotherapy : offizielles Organ der Deutschen Gesellschaft fur Transfusionsmedizin und Immunhamatologie*. [Review / Meta-Analysis]

Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 6:52 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

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?

FAQ

Frequently Asked Questions

Common questions about ACD-related short telomere syndrome

ACD-related short telomere syndrome is a group of conditions that affect the protective ends of chromosomes called telomeres. In people with this condition, telomeres are shorter than normal. This can lead to issues with cell maintenance and overall health. Conditions such as dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, hereditary aplastic anemia, and pulmonary fibrosis are included in this spectrum. These conditions are linked to changes in the ACD gene. A pathogenic variant in this gene disrupts the normal maintenance of telomeres, which may lead to the various conditions described. Research is ongoing to better understand how these genetic changes affect health.

Information about symptoms is currently limited for this condition.

This condition is caused by a pathogenic variant in the ACD gene, which leads to impaired telomere maintenance. The shortened telomeres are linked to a range of associated conditions, although the exact mechanisms may vary between affected individuals. Associated genes include ACD.

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GeneReviews

Differential Diagnosis

Disorders with clinical features that overlap those of dyskeratosis congenita and related telomere biology disorders (DC/TBD) are described below. Disorders with Nail Dysplasia Table 3. Disorders with Nail Dysplasia in the Differential Diagnosis of Dyskeratosis Congenita and Related Telomere Biology Disorders (DC/TBD)

Gene	Disorder	MOI	Clinical Characteristics	Comment
FZD6	Twenty-nail dystrophy (OMIM 161050)	AR	Onychauxis, hyponychia, onycholysis	Nonsyndromic nail disorder LMX1B
Nail-patella syndrome	AD	Classic clinical tetrad of changes in nails, knees, elbows, presence of iliac horns	Nails may be absent, hypoplastic, or dystrophic; ridged longitudinally or horizontally; pitted; discolored; separated into 2 halves by longitudinal cleft or ridge of skin; thin or (less often) thickened. USB1	—
Poikiloderma with neutropenia	AR	Post-inflammatory poikiloderma chronic noncyclic neutropenia typically assoc w/recurrent sinopulmonary infections (often) bronchiectasis. risk for myelodysplastic syndrome. Other findings incl nail dystrophy palmar/plantar hyperkeratosis.	Thickened, hyperkeratotic toenails are common; dystrophic nails that can slough may also be seen.	—
Gene	Disorder	MOI	Clinical Characteristics	Comment BRCA1 BRCA2 BRIP1 ERCC4 FAAP100 FANCA FANCB FANCC FANCD2 FANCE FANCF FANCG FANCI FANCL FANCM PALB2 RAD51 RAD51C REV7 RFWD3 SLX4 UBE2T
XRCC2	Fanconi anemia (FA)	ARXLAD1	The primary clinical features of FA are physical abnormalities, progressive BMF manifesting as pancytopenia, cancer susceptibility; however, some persons w/FA have neither physical abnormalities nor BMF.	The 1st clinical manifestation of both FA DC/TBD may be BMF. DNAJC21 EFL1 SBDS
SRP54	Shwachman-Diamond syndrome (SDS)	ARAD2	Exocrine pancreatic dysfunction w/malabsorption, malnutrition, growth failure; hematologic abnormalities w/single- or multi-lineage cytopenias susceptibility to MDS AML; bone abnormalities. In almost all affected children, persistent or intermittent neutropenia is a common presenting finding.	—

Source: GeneReviews — "Dyskeratosis Congenita and Related Telomere Biology Disorders"

System/Concern	Evaluation	Comment
Dermatologic	Thorough skin nail exam	—
Dental	Baseline eval for oral hygiene, leukoplakia, oral squamous cell cancer	—
Otolaryngologic	Baseline eval for leukoplakia squamous cell head/neck cancer	Growth
development	Clinical assessment	—
Ophthalmic	Thorough exam for complications related to lacrimal duct stenosis, abnormal eyelash growth, retinal disorders incl exudative retinopathy	Gastrointestinal
hepatic	History of potential swallowing difficulties /or enteropathy; baseline liver function tests	—
Genitourinary	For males, assessment for urethral stenosis	—
Musculoskeletal	Consideration of baseline bone mineral density scan at age 14 yrs or at diagnosis; history of any joint problems	—
Neurologic	If early-onset neurologic findings (e.g., ataxia) or many complications are found in other initial evals, consider brain MRI to evaluate for cerebellar hypoplasia or intracranial calcifications.	—
Hematologic	Eval by hematologist incl CBC bone marrow aspiration biopsy to determine if signs of BMF are present	Consideration of HLA typing of affected person, unaffected sibs, parents in anticipation of possible need for HCT Pulmonary
Cardiologic	Baseline eval for cardiac malformations	Genetic
counseling	By genetics professionals1	To obtain a pedigree inform affected persons their families re nature, MOI, implications of DC/TBD to facilitate medical personal decision making Family support resources

System/Concern	Evaluation	Frequency
for BMF	CBC	Prior to start; Rpt every 4-6 wks; When counts are stable, rpt every 2-3 mos Liver function tests
Cancer	Self-exam for oral, head, neck cancers	Monthly; Cancer screening by otolaryngologist; Gynecologic exam; Skin cancer screening by dermatologist
Pulmonary fibrosis	PFTs	Annually starting at age 8 yrs (or at diagnosis) Pulmonary arteriovenous
malformations	Bubble echocardiogram	In case of pulmonary symptoms in absence of pulmonary fibrosis Oral dental issues
Immunologic issues	Follow up based on findings at initial eval	At immunologist's discretion Cutaneous
manifestations	Full-body skin exam by dermatologist	Annually
Developmental delay	Clinical eval referral to specialist if needed	At each visit in childhood Opht...

Kisho

ACD-related short telomere syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Latest News & Developments

Retinopathy in Dyskeratosis Congenita and Related Telomere Biology Disorders: Short Telomere Associated Retinopathy (STAR).

Gene therapy for children with sickle cell disease approved by FDA

ACD-related short telomere syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Prognosis

Surveillance Guidelines

Research Landscape

Recent Publications

Medical References

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

FAQ

Frequently Asked Questions

What is ACD-related short telomere syndrome?

What are the symptoms of ACD-related short telomere syndrome?

What causes ACD-related short telomere syndrome?

How is ACD-related short telomere syndrome diagnosed?

Are there treatments for ACD-related short telomere syndrome?

What complications can arise from ACD-related short telomere syndrome?

How does ACD-related short telomere syndrome affect daily life?

What is the life expectancy for someone with ACD-related short telomere syndrome?

Are there any specific specialists I should see for ACD-related short telomere syndrome?

Differential Diagnosis

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Latest News & Developments

Retinopathy in Dyskeratosis Congenita and Related Telomere Biology Disorders: Short Telomere Associated Retinopathy (STAR).

Gene therapy for children with sickle cell disease approved by FDA