Table 1 Clinical criteria in differential diagnosis of Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) and Marinesco-Sjögren syndrome (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)