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progeroid syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

progeroid syndrome

MONDO:0015333

Also known as:progeriaprogeria or progeroid syndrome

Overview

A group of rare genetic disorders which mimic physiological aging, making affected individuals appear to be older than they are.

OnsetANTENATAL, CONGENITAL, ADULT

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: before birth, at birth, adulthood.

GeneReviews

Clinical Guidance

Classic and nonclassic genotype Hutchinson-Gilford progeria syndrome (HGPS) are characterized by growth deficiency, characteristic facial features, dental anomalies, sclerodermatous skin findings, alopecia, lipodystrophy, dystrophic nails, musculoskeletal manifestations, infertility, severe early-onset atherosclerosis, hearing loss, and nocturnal lagophthalmos. Children with progeria usually appear normal at birth and in early infancy. Growth deficiency. Most infants display normal weight at birth. Profoundly poor weight gain and growth deficiency usually occurs during the first year. Poor weight gain and loss of subcutaneous fat results in weight less than the 3rd centile for age, and weight that is distinctly low for height. Stature also decreases to below the 3rd centile for age.

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 clinical diagnosis of Hutchinson-Gilford progeria syndrome (HGPS) can be established in a proband when characteristic pathognomonic features emerge. Molecular testing should accompany a clinical diagnosis .

Suggestive Findings

HGPS should be suspected in probands with the following clinical and radiographic findings in the setting of normal intellectual development (see and ).

Growth deficiency

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 progeroid syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Comprehensive clinical practice guidelines for Hutchinson-Gilford progeria syndrome (HGPS) have been published (see Progeria Research Foundation.)

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with HGPS, the evaluations summarized (if not performed as part of the evaluation that led to 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. Hutchinson-Gilford Progeria Syndrome: 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 progeroid syndrome.

154 publications have been identified in PubMed for progeroid syndrome. Research spans Basic Science / Preclinical (48%), Review / Meta-Analysis (23%), and Case Report / Case Series (13%).

Research Type	Count	% of Total
Laboratory research	64	48%

Data assembled from 4 of 12 sources · Last updated Sep 17, 2026, 10:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:139033

GARD

Genetic and Rare Diseases Info Center

GARD:19906

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

Progeroid syndromes. Other syndromes of known genetic cause that include some features of premature aging are listed in . Table 4. Progeroid Syndromes in the Differential Diagnosis of Hutchinson-Gilford Progeria Syndrome

Category	Gene(s)	Disorder	MOI
LMNA	Mandibuloacral dysplasia, LMNA-related (OMIM 248370)	AR	—
ZMPSTE24	Mandibuloacral dysplasia, ZMPSTE24-related (OMIM 608612)	AR Non-laminopathy progeroid syndromes	AGPAT2
BSCL2	Berardinelli-Seip congenital lipodystrophy (congenital generalized lipodystrophy)	AR	—
B3GALT6	Spondylodysplastic Ehlers-Danlos syndrome (spEDS-B3GALT6) (OMIM 615349)	AR	—
B4GALT7	Spondylodysplastic Ehlers-Danlos syndrome (spEDS-B4GALT7) (OMIM 130070)	AR	—
BANF1	Nestor-Guillermo syndrome (OMIM 614008)	AR ERCC6 ERCC8	Cockayne syndrome
GORAB	Gerodermia osteodysplastica (OMIM 231070)	AR	—
PDGFRB	Penttinen syndrome (OMIM 601812)	AD	—
POLR3A	POLR3A-related Wiedemann-Rautenstrauch syndrome2 (See POLR3-Related Leukodystrophy.)	AR	—
PYCR1	PYCR1-related Wiedemann-Rautenstrauch-like syndrome3 (See Neurocutaneous Disorders due to Mitochondrial Proline Synthesis Defects.)	AR SLC25A24	SLC25A24 Fontaine progeroid syndrome

Source: GeneReviews — "Hutchinson-Gilford Progeria Syndrome"

Kisho

progeroid syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

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

Differential Diagnosis

Growth/Feeding/Nutrition

Dental

Skin/Hair

Musculoskeletal

Cardiovascular

Hearing

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

progeroid syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

GARD

Subtypes

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Growth/Feeding/Nutrition

Dental

Skin/Hair

Musculoskeletal

Cardiovascular

Hearing

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications