Seizures-scoliosis-macrocephaly syndrome

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Seizures-scoliosis-macrocephaly syndrome

Synonyms: SSM 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: // Data version October 2023.

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Advocacy Organizations


Our mission is to promote greater awareness and understanding of CDG & NGLY1-Deficiency, to provide information and support to families affected by CDG & NGLY1, and to advocate for and fund scientific research to advance the diagnosis and treatment of CDG & NGLY1-Deficiency.

Mississippi Metabolics Foundation

Mississippi Metabolics Foundation (MMF) was founded to raise awareness, educate, and provide support to those living or caring for someone with genetic metabolic disorders/inborn errors of metabolism (IEM).

Clinical Trials

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