Luscan Lumish syndrome features include:
• Developmental delays/ intellectual disability (mild to severe)
• Behavioral abnormalities, such as autism spectrum disorder
• Larger than expected height and weight (overgrowth) and/or larger than expected head circumference (macrocephaly)
• Brain abnormalities, commonly Chiari 1 malformation
• Seizures
• Low muscle tone (hypotonia)
• Abnormalities affecting the hormones, including early onset puberty (precocious puberty), polycystic ovarian syndrome, growth hormone deficiency, underactive thyroid (hypothyroidism)
• Heart defects from birth
• Laxity of the joints
RAPAS features include:
• Profound intellectual disability
• Smaller than expected head circumference (microcephaly)
• Smaller than expected height and weight (failure to thrive)
• Difficulties with feeding and breathing, often requiring tubes feeds and support for breathing by tracheostomy
• Cleft palate with underdeveloped jaw
• 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
• Abnormalities of the eyes, including Coats disease of the retina, optic nerve hypoplasia, glaucoma, cataracts
• Heart defects from birth
• Abnormalities of the kidneys and genitals, including cryptorchidism, micropenis, shawl scrotum, anteriorly placed anus, short vagina, absent cervix, absent midline mullerian structures, and multicystic dysplastic kidneys
• Low sodium levels in the blood (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