Table 1.

Clinical criteria in differential diagnosis of Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) and Marinesco-Sjögren syndrome (MSS)

SYMPTOMS	CCFDN	MSS
Microcornea, microphthalmos, micropupils	Yes	No
Developmental delay	Yes	Yes
Small stature	Yes	Yes
Facial dysmorphism	Yes, mild, late childhood	No
Peripheral neuropathy	Yes, hypomyelinating	Rare, variable type
Ataxia	Rare, mild*	Severe cerebellar
Brain MRI	Cerebral atrophy*	Cerebellar atrophy
Myopathy	Acute para-infectious rhabdomyolysis*	Chronic
Cognitive deficit	Mild*	Variable degree
Hypogonadism	Mild*	Variable in degree and origin (hypo/hypergonadotrophic)

* Manifestations whose frequency and nature require further characterisation.