Fanconi syndrome physical examination

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vahid Eidkhani, M.D.

Physical examination of patients suffering from Fanconi syndrome, most likely relate to the underlying etiology of the syndrome as the clinical presentation of the disease mainly shows up with the symptoms patients are concerned about.

Nevertheless the most common physical examination findings in most cases of the disease include Growth retardation, short stature, weight loss and bony malformations^[1][2].

• Physical examination of patients with Fanconi syndrome is usually remarkable for: Growth retardation,short stature, weight loss and bony malformations.

• Patients with Fanconi syndrome usually appear weak with walking difficulty in adulthood and with growth failure and short stature in childhood.

• Vital signs of Fanconi syndrome patients are within normal limits except for probable mild “Tachycarida” in dehydrated patients.

• Skin examination of patients with Fanconi syndrome is essentially normal.
• Jaundice might be seen in the context of Galactosemia, Hereditary fructose intolerance, Wilson disease and Tyrosinemia.
• Skin cysts might be presented in cases with LOWE syndrome.

• HEENT examination of patients with Fanconi syndrome is usually normal except for associated conditions of underlying genetic diseases leading to Fanconi syndrome, some of which are listed below:
• Congenital cataracts in Galactosemia.

• Deep set eyes, congenital cataracts, infantile glaucoma, corneal keloids, lens opacities, frontal bossing and full cheeks are found in LOWE syndrome cases^[3].
• Corneal Kayser–Fleischer rings in Wilson disease.
• Corneal cystine crystals in Cystinosis.

• Neck examination of patients with Fanconi syndrome is usually normal.

• Pulmonary examination of patients with Fanconi syndrome is usually normal.

• Cardiovascular examination of patients with Fanconi syndrome is usually normal.

Abdominal examination of patients with Fanconi syndrome is usually normal except for:

• Hepatomegaly seen in Fanconi–Bickel syndrome, Tyrosinemia, Galactosemia and Hereditary fructose intolerance.
• Ascites seen in Tyrosinemia and Wilson disease.

• Point tenderness over vertebrae and/or costovertebral angle tenderness might exist because of spontaneous fractures.

• Genitourinary examination of patients with Fanconi syndrome is usually normal, except for:
• Hypogonadism in boys with Cystinosis.

• Neuromuscular examination of patients with Fanconi syndrome might include:

• Generalized muscular weakness
• bilateral lower extremity weakness presenting as walking difficulty^[4]
• Psychomotor and mental retardation in LOWE syndrome, Wilson disease and Galactosomia.

• Pitting edema in lower extremities might occur in severe Proteinuria/aminoaciduria.

• Muscle atrophy in severe forms of the disease.

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