Macrocephaly-short stature-paraplegia syndrome

MONDO:0016571

Macrocephaly-short stature-paraplegia syndrome is characterized by macrocephaly and midface hypoplasia, intellectual deficit, short stature, spastic paraplegia and severe central nervous system anomalies (hydrocephalus and Dandy-Walker malformation). It has been described in two unrelated adults.

Also known as: Volcke Soekarman syndrome, Volcke-Soekarman syndrome, macrocephaly, intellectual disability, short stature, spastic paraplegia and cns malformations

1 clinical trial for this condition and its sub-types, 0 tagged with Macrocephaly-short stature-paraplegia syndrome itself.

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↑ Syndromic disease (7158) ↑ Congenital nervous system disorder (287) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Central nervous system malformation (51)

Including sub-types (1) Tagged with Macrocephaly-short stature-paraplegia syndrome (0)

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