Luscan Lumish syndrome features include:
• Developmental delays/ intellectual disability (mild to severe)
• Behavioural abnormalities, such as autism spectrum disorder
• Overgrowth/ macrocephaly
• Brain abnormalities, commonly Chiari 1 malformation
• Seizures
• Hypotonia
• Endocrine abnormalities, including precocious puberty, polycystic ovarian syndrome, growth hormone deficiency, hypothyroidism
• Congenital heart defects
• Joint hypermobility
RAPAS features include:
• Profound intellectual disability
• Microcephaly
• Failure to thrive
• Feeding and respiratory difficulties, often requiring tube feeds and/or tracheostomy
• Cleft palate with Pierre Robin sequence
• Epilepsy, with onset in infancy
• Brain malformations, including hypoplasia of the corpus callosum, pons, and cerebellum, shallow sulci, ventriculomegaly, and mega cisterna magna
• Hearing loss, conductive and/or sensorineural
• Ophthalmic abnormalities, including Coats disease of the retina, optic nerve hypoplasia, glaucoma, cataracts
• Congenital heart defects
• Urogenital anomalies, including cryptorchidism, micropenis, shawl scrotum, anteriorly placed anus, short vagina, absent cervix, absent midline mullerian structures, and multicystic dysplastic kidneys
• Hyponatremia in infancy
• Skeletal abnormalities, including hip dysplasia, contractures, thoracic dysplasia, craniosynostosis, neuromuscular scoliosis, and abnormalities or the hands and feet (brachydactyly, syndactyly, camptodactyly, proximally implanted triphalangeal thumbs, broad proximally implanted hallcues, hypoplastic distal phalanges and nails, rocker bottom feet, small hands and feet, persistent fetal fingertip pads)
SETD2