Progeria is caused by a sporadic mutation in the LMNA gene that codes for a protein (lamin A) that provides the molecular scaffolding of cell nuclei. The defective protein leads to nuclear instability from cell division and early death of every body cell.
Symptoms and signs of progeria develop within 2 years of birth and include
Growth failure (eg, short stature, delayed tooth eruption)
Craniofacial abnormalities (eg, craniofacial disproportion, micrognathia, beaked nose, macrocephaly, large fontanelle)
Physical changes of aging (eg, wrinkled skin, balding, decreased range of motion of joints, tough skin that resembles scleroderma)
Diagnosis of progeria is usually obvious by appearance but must be distinguished from segmental progerias (eg, acrogeria, metageria) and other causes of growth failure. Median age at death is 12 years of age; cause is coronary artery and cerebrovascular disease. Insulin resistance and atherosclerosis may develop. Of note is that other problems associated with normal aging (eg, increased cancer risk, degenerative arthritis) are not present.
There is no known progeria treatment. Support groups are available.
Other progeroid syndromes
Premature aging is a feature of other rare progeroid syndromes.
Werner syndrome is premature aging after puberty with hair thinning and development of conditions of old age (eg, cataracts, diabetes, osteoporosis, atherosclerosis). Rothmund-Thomson syndrome is premature aging with increased susceptibility to cancer. Both are caused by gene mutations leading to defective RecQ DNA helicases, which normally repair DNA.
Cockayne syndrome is an autosomal recessive disorder caused by mutation in the ERCC8 gene, which is important in DNA excision repair. Clinical features include severe growth failure, cachectic appearance, retinopathy, hypertension, renal failure, skin photosensitivity, and intellectual disability.
Neonatal progeroid syndrome (Wiedemann-Rautenstrauch syndrome) is a recessively inherited syndrome of aging causing death by age 2 years.
Other syndromes (eg, Down Down Syndrome (Trisomy 21) Down syndrome is an anomaly of chromosome 21 that can cause intellectual disability, microcephaly, short stature, and characteristic facies. Diagnosis is suggested by physical anomalies and... read more , Ehlers-Danlos Ehlers-Danlos Syndrome Ehlers-Danlos syndrome is a hereditary collagen disorder characterized by articular hypermobility, dermal hyperelasticity, and widespread tissue fragility. Diagnosis is clinical. Treatment is... read more ) occasionally have progeroid features.
The following are some English-language support resources that may be useful for parents or caregivers. Please note that THE MANUAL is not responsible for the content of these resources:
Progeria Research Foundation: A resource dedicated to finding a cure and effective treatments for progeria that offers information, resources, and support through its web site
Share and Care Cockayne Syndrome Network: A resource that provides support group to families and professionals with an interest in Cockayne syndrome
Rothmund-Thomson Syndrome Foundation: A resource that provides education about Rothmund-Thomson syndrome and related disorders and supports clinical research