= BROAD THUMB SYNDROME

= rare sporadic syndrome without known chromosomal / biochemical markers; M÷F = 1÷1

• small stature; mental, motor, language retardation
• Characteristic facies
  • beaked / straight nose ± low nasal septum
  • antimongoloid slant of palpebral fissures
  • epicanthic folds; broad fleshy nasal bridge
  • high-arched palate; dental abnormalities
• Ophthalmologic findings
  • strabismus, ptosis, refractive errors
• Cutaneous findings
  • keloids, hirsutism, simian crease
  • flat capillary hemangioma on forehead / neck
• Musculoskeletal findings
  • short broad “spatulate” terminal phalanges of thumb and great toe ± angulation deformity (MOST CONSISTENT + CHARACTERISTIC FINDING)
  • radial angulation of distal phalanx (50%) caused by trapezoid / delta shape of proximal phalanx
  • tufted “mushroom-shaped” fingers + webbing
  • thin tubular bones of hand + feet
  • club feet
  • retarded skeletal maturation
  • dysplastic ribs
  • spina bifida occulta
  • scoliosis
  • flat acetabular angle + flaring of ilia
• Genitourinary tract anomalies
  • bilateral renal duplication
  • renal agenesis
  • bifid ureter
  • incomplete / delayed descent of testes
• Cardiovascular abnormalities
  • atrial septal defect
  • patent ductus arteriosus
  • coarctation of aorta
  • valvular aortic stenosis
  • pulmonic stenosis

OB-US:

• decreased head circumference
• small for gestational age

Cx in infancy: obstipation, feeding problems, recurrent upper respiratory infection