Thursday, December 24, 2020

Blog Post on Congenital Scoliosis                                           12-24-2020


Scoliosis can be broadly broken down into one of 4 types:

Idiopathic: meaning there is no known etiology

Syndromic: connective tissue disorders (Marfan’s, Ehlers-Danlos), trisomy 21, Prader-Willi, Retts syndrome, Beale’s syndrome, muscular dystrophies (e.g. Duchenne’s), osteochondrodystrophy (dwarfism), neurofibromatosis, Noonan syndrome, VATER/VACTERL, Angelman, Osteogenesis Imperfecta,

Neuromuscular: such as cerebral palsy, spina bifida, muscular dystrophies (e.g. Duchenne’s), paralytic conditions (e.g. polio, spinal cord injury), spinal muscle atrophy, Friedreich’s ataxia,


Of these, the idiopathic category is the diagnosis of exclusion, meaning patients can be given this diagnosis if there is no known cause of the scoliosis, there are no known significant medical comorbidities (see syndromic and neuromuscular categories, above) or atypical bony maldevelopment of the vertebra (congenital).

The categories of syndromic and neuromuscular (#2 and #3, above) are rather nebulous and there is some disagreement where to place certain diagnoses, such as muscular dystrophies.

The last category, congenital, is the one which is solely based on abnormal vertebral development.  So it is possible to have a patients which has congenital scoliosis, but also has a syndromic (e.g. VATER/VACTERL) or a neuromuscular diagnosis (e.g. spina bifida or myelomeningocoele) at the same time.


Within the diagnostic category of congenital scoliosis there are three main sub-categories:

Failure of formation (meaning there are parts of the vertebra which never formed)

Failure of segmentation (meaning the parts of the vertebra did not separate as they were intended). 

Mixed type, which is a combination of the two above categories (failure of formation and failure of segmentation).


This is a classic figure from the work of Dr. McMaster which nicely demonstrates Defects of Segmentation and Defects of Formation.

More about congenital scoliosis next week……

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