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]

• Respiratory Insufficiency

  A rare keratodermal syndrome where nail dystrophies are associated with axonal neuropathy and sometimes respiratory insufficiency. [accessanesthesiology.mhmedical.com]

• 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]

• 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]

• 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]

• 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]

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]