Diagnosis is based on physical examination including radiographs of the<unk> s and feet and imaging studies of the kidneys, bladder, and female reproductive tract. HOXA13 is the only gene known to be associated with HFGS. Approximately 60% of mutations are polyalanine expansions. Molecular genetic testing is clinically available. Additional findings Additional findings that may be present in HFGS according to the latest research are: * Limited metacarpophalangeal flexion of the thumb or limited ability to oppose the thumb and fifth finger * Hypoplastic thenar eminences * Medial deviation of the great toe (hallux varus), a useful diagnostic sign when present * Small great toenail * Fifth-finger clinodactyly, secondary to a shortened middle phalanx * Short feet * Altered dermatoglyphics of the<unk> s; when present, primarily involving distal placement of the axial triradius, lack of thenar or hypothenar patterning, low arches on the thumbs, thin ulnar loops (deficiency of radial loops and whorls), and a greatly reduced ridge count on the fingers Radiographic findings * Hypoplasia of the distal phalanx and first metacarpal of the thumbs and great toes * Pointed distal phalanges of the thumb * Lack of normal tufting of the distal phalanges of the great toes * Fusions of the cuneiform bones to other tarsal bones or trapezium-scaphoid fusion of the carpals * Short calcaneus * Occasional bony fusions of the middle and distal phalanges of the second, third, fourth, or fifth toes * Delayed carpal or tarsal maturation * Metacarpophalangeal profile reflecting shortening of the first metacarpal, the first and second phalanges, and the second phalanx of the second and fifth digits Urogenital Defects Females may have the following: * Vesicoureteral reflux secondary to ureteric incompetence * Ectopic ureteral orifices * Trigonal hypoplasia * Hypospadiac urethra * Subsymphyseal epispadias * Patulous urethra * Urinary incontinence (related to structural anomalies and weakness of the bladder sphincter muscle) * Small hymenal opening * Various degrees of incomplete Müllerian fusion with or without two cervices or a longitudinal vaginal septum Males may have the following: * Retrograde ejaculation (related to structural anomalies and weakness of the bladder sphincter muscle)
Hand-foot-genital syndrome
Hunan hand syndrome
Two feet-one hand syndrome
Handigodu syndrome
Alien hand syndrome
Oto-palato-digital syndrome
Elejalde syndrome
Scimitar syndrome