Syndromes with Craniofacial Abnormalities
32 entries in the Syndromes with Craniofacial Abnormalities compendium.
2q37 deletion syndromeA chromosomal deletion disorder with craniofacial and developmental features.3-M syndromeA rare genetic disorder with severe growth retardation and craniofacial abnormalities.3q29 microdeletion syndromeA rare genetic disorder with variable intellectual and physical features.22q13 deletion syndromeGenetic disorder from 22q13 deletions, featuring developmental delay and speech abnormalities.Acrocallosal syndromeRare autosomal recessive disorder with corpus callosum agenesis and polydactyly.ATR-X syndromeX-linked syndrome with intellectual disability, facial changes, and alpha-thalassemia.Cardiofaciocutaneous syndromeA rare RASopathy with distinctive facial, skin, and heart features.Carpenter syndromeRare autosomal recessive disorder with craniofacial and limb anomalies.Coffin–Lowry syndromeX-linked dominant disorder with intellectual disability and distinct facial features.Cohen syndromeA rare genetic disorder with obesity, intellectual disability, and craniofacial features.Costello syndromeA rare genetic RASopathy with distinctive facial features and tumor risk.Donnai–Barrow syndromeA genetic disorder with craniofacial, hearing, vision, and brain abnormalities.Donohue syndromeSevere genetic disorder with insulin resistance and distinctive facial features.Dubowitz syndromeA rare genetic disorder with microcephaly and stunted growth.Facial infiltrating lipomatosisUltra-rare congenital hemifacial overgrowth from PIK3CA mutation.Fetal hydantoin syndromeDefects from fetal exposure to the epilepsy drug phenytoin.Fetal warfarin syndromeEmbryopathy from maternal warfarin use during pregnancy.Fragile X syndromeGenetic disorder causing intellectual disability and characteristic facial features.Frank–Ter Haar syndromeRare syndrome with bone, heart, and eye abnormalities.Freeman–Sheldon syndromeA severe distal arthrogryposis with craniofacial and limb contractures.Goldenhar syndromeA rare congenital defect of first and second branchial arch development.Hurler syndromeA severe lysosomal storage disorder causing progressive multi-organ damage.Jackson–Weiss syndromeA genetic disorder with craniosynostosis and foot abnormalities.Jacobsen syndromeA rare chromosomal disorder with intellectual disability and distinctive facial features.Joubert syndromeA rare genetic disorder affecting the cerebellum and multiple organ systems.Kabuki syndromeA rare genetic disorder with distinctive facial features.Keutel syndromeRare autosomal recessive disorder with cartilage calcification and midface hypoplasia.Kleefstra syndromeA rare genetic disorder with intellectual disability and distinctive facial features.Lateral meningocele syndromeA rare skeletal disorder with facial anomalies and lateral meningoceles.Leontiasis osseaRare craniofacial bone overgrowth, a symptom of other diseases.Long face syndromeA disputed dentofacial condition with excessive vertical facial growth.Malpuech facial clefting syndromeRare congenital syndrome with facial clefts, caudal appendage, and developmental delays.
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