A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has_material_basis_in mutation to the SF3B4 gene. (DO)
acrofrontofacionasal dysostosis
Agenesis of Cervical Vertebrae
brachydactyly +
Camptodactyly Joint Contractures and Facial Skeletal Dysplasia
Cenani-Lenz syndactyly syndrome
contractures, pterygia, and spondylocarpotarsal fusion syndrome +
Cousin Syndrome
Diaphanospondylodysostosis
DYSOSTOSIS MULTIPLEX, AIN-NAZ TYPE
focal dermal hypoplasia
Fronto-Facio-Nasal Dysplasia
frontonasal dysplasia 1
Humerofemoral Hypoplasia with Radiotibial Ray Deficiency
Isolated Thoracic Dysostosis
Klippel-Feil syndrome +
Laurin-Sandrow syndrome
Mandibulofacial Dysostosis Syndrome, Bauru Type
Mandibulofacial Dysostosis with Macroblepharon and Macrostomia
Metaphyseal Dysostosis, Mental Retardation, and Conductive Deafness