Fontaine progeroid syndrome

A progeroid syndrome that is 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 w

A progeroid syndrome that is 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 and that has_material_basis_in heterozygous mutation in the SLC25A24 gene on chromosome 1p36.

Signs and symptoms

• Coronal craniosynostosis
• Short palpebral fissure
• Hypertrichosis
• Downslanted palpebral fissures
• Midface retrusion
• Underdeveloped supraorbital ridges
• Convex nasal ridge
• Prominent superficial veins
• Brachycephaly
• Triangular face

Also known as: Gorlin-Chaudhry-Moss syndrome; Progeroid Syndrome, Congenital, Petty Type