Nail dystrophy affects both toes and fingers; it can be present at birth or developed during early childhood. Palmoplantar keratoderma becomes apparent in later childhood.[accessanesthesiology.mhmedical.com]
[…] 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: - The documents contained in this web site are presented[orpha.net]
Fitzsimmons, a British physician. Powell FC, Venencie PY, Gordon H, et al: Keratoderma and spastic paralysis. Br J Dermatol 109:589, 1983. [PubMed: 6227331][accessanesthesiology.mhmedical.com]
A rare keratodermal syndrome where nail dystrophies are associated with axonal neuropathy and sometimes respiratoryinsufficiency.[accessanesthesiology.mhmedical.com]
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]
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]
A particular face is observed (narrownose, prematurely aged face). Fitzsimmons Syndrome: Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis.[accessanesthesiology.mhmedical.com]
A particular face is observed (narrow nose, prematurely agedface). Fitzsimmons Syndrome: Mental retardation with spastic paraplegia and palmoplantar hyperkeratosis.[accessanesthesiology.mhmedical.com]
The spasticity affects all four limbs (spastic paraplegia), pes cavus deformity with abnormalgait, and skin changes. It was described in four brothers in 1983 by J.B. Fitzsimmons, a British physician.[accessanesthesiology.mhmedical.com]
Fitzsimmons Syndrome: Mental retardation with spasticparaplegia and palmoplantar hyperkeratosis. The spasticity affects all four limbs (spasticparaplegia), pes cavus deformity with abnormal gait, and skin changes.[accessanesthesiology.mhmedical.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]