Radial longitudinal deficiency.

[holt-oram syndrome]

Radial longitudinal deficiency encompasses a spectrum of upper limb dysplasias and hypoplasias . The bony abnormalities of the thumb and radius are the most pronounced , but deficiencies of the accompanying muscles , nerves , vessels , and joints also greatly influence the ultimate upper extremity function . The striking clinical presentation of the involved upper limb is often more obvious than the potentially life-threatening associated systemic conditions . All children presenting with radial longitudinal deficiency , regardless of severity , require a renal ultrasound , echocardiogram , and complete blood count to evaluate the potential for associated systemic conditions ; these include Fanconi 's anemia , the Holt-Oram syndrome , and the VATER (vertebral anomalies , anal atresia , tracheoesophageal fistula , esophageal atresia , renal agenesis ) syndrome or VACTERL (vertebral anomalies , anal atresia , cardiac abnormalities , tracheoesophageal fistula , renal agenesis , and limb defects ) association . The overall health of the child , as well as the severity of the osseous and soft -tissue deformities of the affected limb , guides the long -term treatment plans .

Diseases
Validation

Diseases presenting "anemia" symptom

22q11.2 deletion syndrome

alpha-thalassemia

canavan disease

child syndrome

coats disease

congenital toxoplasmosis

cowden syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

dracunculiasis

erythropoietic protoporphyria

esophageal adenocarcinoma

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kallmann syndrome

kindler syndrome

lamellar ichthyosis

liposarcoma

omenn syndrome

scrub typhus

sneddon syndrome

typhoid

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

This symptom has already been validated