seizures-scoliosis-macrocephaly syndrome
Seizures-scoliosis-macrocephaly syndrome is a rare, genetic neurometabolic disorder characterized by seizures, macrocephaly, delayed motor milestones, moderate intellectual disability, scoliosis with no exostoses, muscular hypotonia present since birth, as well as renal dysfunction. Coarse facial features (including hypertelorism and long hypoplastic philtrum) and bilateral cryptorchidism (in males) are also commonly reported. Additional manifestations include abnormal gastrointestinal motility (resulting in constipation, diarrhea, gastroesophageal reflux and dysphagia), gait disturbances, strabismus and ventricular septal defects.
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015286
congenital disorder of glycosylation
is_a
SSM syndrome
exact
SSMS
exact
seizures, scoliosis, and macrocephaly syndrome
exact