Presentation
Respiratoric
- Respiratory Insufficiency
A rare keratodermal syndrome where nail dystrophies are associated with axonal neuropathy and sometimes respiratory insufficiency. [accessanesthesiology.mhmedical.com]
Skin
- Hyperkeratosis
ORPHA:2201 Synonym(s): Palmoplantar hyperkeratosis-spastic paralysis syndrome Powell-Venencie-Gordon syndrome Prevalence: Inheritance: Autosomal dominant Age of onset: All ages ICD-10: - OMIM: 148360 UMLS: C1835671 C2931828 MeSH: C536153 GARD: 3095 MedDRA [orpha.net]
Fitzsimmons Syndrome: Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis. The spasticity affects all four limbs (spastic paraplegia), pes cavus deformity with abnormal gait, and skin changes. [accessanesthesiology.mhmedical.com]
Musculoskeletal
- Brachydactyly
Venencie Powell Winkelmann Syndrome: In this syndrome multiple orthopedic malformations are associated including scoliosis and brachydactyly. A particular face is observed (narrow nose, prematurely aged face). [accessanesthesiology.mhmedical.com]
Face, Head & Neck
- Narrow Nose
A particular face is observed (narrow nose, prematurely aged face). Fitzsimmons Syndrome: Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis. [accessanesthesiology.mhmedical.com]
- Aged Face
A particular face is observed (narrow nose, prematurely aged face). Fitzsimmons Syndrome: Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis. [accessanesthesiology.mhmedical.com]
Neurologic
- Spastic Paralysis
[…] and soles and/or slowly progressive spastic paralysis, predominantly affecting the lower limbs. [orpha.net]
Powell FC, Venencie PY, Gordon H, et al: Keratoderma and spastic paralysis. Br J Dermatol 109:589, 1983. [PubMed: 6227331] [accessanesthesiology.mhmedical.com]
- Abnormal Gait
The spasticity affects all four limbs (spastic paraplegia), pes cavus deformity with abnormal gait, and skin changes. It was described in four brothers in 1983 by J.B. Fitzsimmons, a British physician. [accessanesthesiology.mhmedical.com]
- Spastic Paraplegia
Fitzsimmons Syndrome: Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis. The spasticity affects all four limbs (spastic paraplegia), pes cavus deformity with abnormal gait, and skin changes. [accessanesthesiology.mhmedical.com]