Presentation
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]
Entire Body System
-
Physician
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]
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]
Treatment
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]