Noonan syndrome with multiple lentigines (NSML) is a rare autosomal dominant disorder, primarily caused by variants in the PTPN11 gene. Characterized by multiple lentigines, hypertelorism, short ...

Fibroblast growth factors (FGFs) signal through FGF receptor tyrosine kinases to regulate a wide range of biological processes during development and adulthood. FGF receptors (FGFRs) are involved ...

Hypospadias can be part of congenital syndromes such as Opitz syndrome (BBB syndrome), which can be recognized by midline abnormalities, including hypertelorism, cleft lip, heart defects ...

Department of Paediatric Immunology, Radboud University Nijmegen Medical Centre, The Netherlands ...

Cleft lip and cleft palate (CL/CP) are the most commonly occurring craniofacial birth defects. Although some CL/CPs are detected on prenatal ultrasound, the majority are immediately recognized in ...

Holoprosencephaly results when the prosencephalon fails to separate properly between days 18 and 28 of gestation, leading to brain abnormalities, facial deformities (such as cyclopia, median or ...

4 Department of Radiology, Addenbrooke’s NHS Trust, Cambridge, UK 5 Department of Audiology, Addenbrooke’s NHS Trust, Cambridge, UK Correspondence to: M P Snead Vitreoretinal Service, Box 41, ...