Disease Information for Hand-foot-uterus syndrome (7p15-p14.2)

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Clinical Manifestations
Signs & Symptoms
Palmar Edema
Palmar Pain
Palmar Swelling
Associated Diseases & Rule outs
Associated Disease & Complications
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Fetal/conceptual products (category)
Pathophysiology
Pathophysiology/Gene locus 7p15-p14.2
Pathophysiology/Gene locus Chromosome 7
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Process
PROCESS/Hereditary Multiple anomalies syndrome [EX]
PROCESS/INCIDENCE/Esoteric disease (example)
PROCESS/Vegetative-Autonomic/Endocrine (category)
Definition

Hereditary Anomalous autosomal dominant syndrome: HAND-FOOT-UTERUS SYNDROME; HFU SYNDROME;HAND-FOOT-GENITAL SYNDROME;HFG SYNDROME; Gene map locus 7p15-p14.2; some evidence that the syndrome is the result of mutation in the HOXA13 gene; The clinical features include small feet with unusually short great toes and abnormal thumbs; Females with the disorder have duplication of the genital tract, including longitudinal vaginal septum; There is a typical metacarpophalangeal profile pattern; The changes included short first metacarpal and metatarsal, short fifth fingers with clinodactyly, trapezium-scaphoid fusion in the wrist, and cuneiform-navicular fusion in the foot; The pattern of radiologic changes in the hands and feet were sufficiently characteristic to suggest the diagnosis; One proband was a 17-year-old girl with strabismus, hypoplastic thenar eminences, malformed thumbs, bilateral fifth finger clinodactyly, short halluces, uterus bicornis bicollis, longitudinal vaginal septum and bilateral ureterovesical reflux; Affected males had penile hypospadias with chordee; vesicoureteral reflux at young age common; Clinical Synopsis; GU;Genital tract duplication;Bicornuate uterus;longitudinal vaginal septum;Urinary incontinence;Recurrent urinary tract infection; Ureterovesical reflux; Penile hypospadias with chordee; Limbs : Small feet; Short thumbs; Short great toes; Clinodactyly; Hypoplastic thenar eminences; Eyes :Strabismus; Radiology :Short first metacarpal and metatarsal; Short fifth fingers with clinodactyly; Trapezium-scaphoid fusion in wrist; Cuneiform-navicular fusion in foot; Inheritance :Autosomal dominant--------[OMIM November 2004]---------

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External Links Related to Hand-foot-uterus syndrome (7p15-p14.2)
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NEJM (The New England Journal of Medicine)
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