This can be suspected when the usual facial and skeletal features are present. It is confirmed by sequencing the TONSL gene. Differential diagnosis Short limbed dwarfism syndrome in association with immunodeficiency.
Sponastrime dysplasia
Acromicric dysplasia
Thanatophoric dysplasia
Lethal midline granuloma
Boomerang dysplasia
Congenital lip pit
Diastrophic dysplasia
Skin tag