Macrocephaly-short stature-paraplegia syndrome

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Alternate names

Volcke Soekarman syndrome; Volcke-Soekarman syndrome

Definition

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.

NIH genetic and rare disease info

Macrocephaly-short stature-paraplegia syndrome is a rare disease.

Rare and genetic diseases

Rare diseases - Macrocephaly-short stature-paraplegia syndrome

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Macrocephaly-short stature-paraplegia syndrome

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