Details of Disease | DrugMAP

General Information of Disease (ID: DIST7VJV)

Disease Name	Seizures-scoliosis-macrocephaly syndrome
Synonyms	SSMS; SSM syndrome; seizures, scoliosis, and macrocephaly syndrome
Definition	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.
Disease Hierarchy	DIS400QP: Congenital disorder of glycosylation DIST7VJV: Seizures-scoliosis-macrocephaly syndrome
Disease Identifiers	MONDO ID MONDO_0014731 UMLS CUI C4225248 OMIM ID 616682 MedGen ID 909039 Orphanet ID 466926 SNOMED CT ID 1187250005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EXT2	OT8IR5QN	Strong	Autosomal recessive	[1]
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References

1	Old gene, new phenotype: mutations in heparan sulfate synthesis enzyme, EXT2 leads to seizure and developmental disorder, no exostoses. J Med Genet. 2015 Oct;52(10):666-75. doi: 10.1136/jmedgenet-2015-103279. Epub 2015 Aug 5.