Macrocephaly-spastic paraplegia-dysmorphism syndrome
MONDO:0010858Macrocephaly-spastic paraplegia-dysmorphism syndrome is a rare syndrome of multiple congenital anomalies characterized by macrocephaly (of post-natal onset) with large anterior fontanelle, progressive complex spastic paraplegia, dysmorphic facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and prominent incisors), seizures, and intellectual deficit of varying severity. Inheritance appears to be autosomal recessive.
Also known as: Fryns macrocephaly, macrocephaly with spastic paraplegia and distinctive craniofacial appearance
2 clinical trials for this condition and its sub-types, 0 tagged with Macrocephaly-spastic paraplegia-dysmorphism syndrome itself.
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Can ultrasound make botox injections more precise for stiff muscles?
Disease control Recruiting nowThis trial tests whether using ultrasound to guide botulinum toxin injections into spastic leg muscles works better than the standard method of relying on touch and anatomical landmarks. Researchers will give 40 adults with spastic paraplegia two rounds of injections, one with ea…
Phase 4 • Sponsor: Universidade Federal Fluminense • Aim: Disease control
Last updated Sep 05, 2026 00:00 UTC
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Can a massive natural history study unlock the secrets of rare movement disorders?
Knowledge-focused Recruiting nowThis study follows thousands of people with ataxia, hereditary spastic paraplegia, and spastic ataxia, rare conditions that cause progressive problems with walking, balance, and coordination. Researchers will track how symptoms evolve using clinical exams, patient reports, digita…
Sponsor: Heidelberg University • Aim: Knowledge-focused
Last updated Sep 03, 2026 00:00 UTC