Alves Castelo dos Santos syndrome

Overview

A rare syndrome characterized by hair, eye, skin and spinal abnormalities.

Symptoms

  • Short stature
  • Sparse scalp hair
  • Absent scalp hair
  • Decreased sweating
  • Dry skin
  • Dysplastic toenails
  • Thick toenails
  • Grooved toenails
  • Genu valgum
  • Hyperkeratosis
  • Absent eyebrows
  • Sparse eyebrows
  • Cataract
  • Decreased body hair
  • Increased body hair
  • Increased carrying angle of the elbows
  • Scoliosis
  • Short nose
  • Small nose
  • Spina bifida occulta
  • Webbed fingers
  • Telecanthus
  • Small jaw
  • Narrow nasal bridge
  • Joint anomaly
  • Protruding lips
  • Proximally set thumb
  • Thin fingernails
  • Hyperconvex fingernails
  • Abnormal tooth shape
  • Small head
  • Missing teeth
  • Tooth enamel anomalies
  • Muscle wasting
  • Diabetes mellitus
  • Cleft lip
  • Cleft palate
  • Narrow eye slits
  • Kyphoscoliosis
  • Abnormal nails
  • Easy bruising after minor skin trauma
  • Easy scarring after minor skin trauma
  • Abnormal dermatoglyphics
  • Ectodermal dysplasia
  • Eye anomalies