Clinical Guidance
SLC25A24 Fontaine progeroid syndrome is a multisystem connective tissue disorder characterized by poor growth, abnormal skeletal features, and distinctive craniofacial features with sagging, thin skin and decreased subcutaneous fat suggesting an aged appearance that is most pronounced in infancy and improves with time. Characteristic radiographic features include turribrachycephaly with widely open anterior fontanelle, craniosynostosis, and anomalies of the terminal phalanges. Cardiovascular, genitourinary, ocular, and gastrointestinal abnormalities may also occur. Prior to identification of the molecular basis of this disorder, clinical findings were published by , , and . Subsequent published case reports noted significant clinical overlap particularly with "Petty syndrome" and "Fontaine-Farriaux syndrome" . To date, 13 individuals have been described with a molecularly confirmed diagnosis of SLC25A24 Fontaine progeroid syndrome [; ; ; ; ; Author, unpublished data]. The clinical findings discussed in this section are based on these reports . Note: (1) Of the four individuals with an SLC25A24 pathogenic variant included in the report by , three had previously been reported: Patient 2 in , Patient 3 in , and Patient 4 in . (2) Of the five females with an SLC25A24 pathogenic variant and clinical findings suggestive of Gorlin-Chaudhry-Moss syndrome included in the report by , one (Patient 4) had previously been reported by . Table 2. Select Features of SLC25A24 Fontaine Progeroid Syndrome
Feature | Proportionof Personsw/Feature1 | |
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