Fanconi anemia complementation group S

A Fanconi anemia characterized by developmental delay apparent from infancy, short stature, microcephaly, and coarse dysmorphic features that has_material_basis_in compound heterozygous or homozygous mutation in the BRCA1 gene on chromosome 17q21.

Signs and symptoms

• Short stature
• Coarse facial features
• Ovarian carcinoma
• Microcephaly
• Underdeveloped nasal alae
• Global developmental delay
• Low anterior hairline
• Prominent nasal bridge
• Epicanthus
• Macrodontia