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

From: Congenital Cataracts – Facial Dysmorphism – Neuropathy

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)
  1. * Manifestations whose frequency and nature require further characterisation.