GTR Home > Conditions/Phenotypes > Freeman-Sheldon syndrome


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009). [from OMIM]

Associated genes

  • Also known as: HEMHC, MYHC-EMB, MYHSE1, SMHCE, MYH3
    Summary: myosin, heavy chain 3, skeletal muscle, embryonic

Clinical features

  • Fever
  • Small for gestational age
  • Strabismus
  • Muscle weakness
  • Mask-like facies
  • Short neck
  • Abnormal auditory evoked potentials
  • Epicanthus
  • Flexion contracture of toe
  • Adducted thumb
  • Breech presentation
  • Prominent forehead
  • Talipes equinovarus
  • Intellectual disability
  • Rocker bottom foot
  • Microcephaly
  • Hypoplasia of the brainstem
  • Whistling appearance
  • Flat face
  • Telecanthus
  • Malar flattening
  • Chin with H-shaped crease
  • Postnatal growth retardation
  • Long philtrum
  • Seizure
  • Failure to thrive
  • Inguinal hernia
  • Cryptorchidism
  • Narrow mouth
  • High palate
  • Mandibular prognathia
  • Underdeveloped nasal alae
  • Wide nasal bridge
  • Deeply set eye
  • Ptosis
  • Blepharophimosis
  • Abnormality of the skin
  • Ulnar deviation of the hand or of fingers of the hand
  • Cerebellar atrophy
  • Nasal speech
  • Malignant hyperthermia
  • Kyphoscoliosis
  • Hip dislocation
  • Shoulder flexion contracture
  • Short nose
  • Hip contracture
  • Spina bifida occulta
  • Knee flexion contracture
  • Joint contracture of the hand
  • Chin dimple
  • Camptodactyly
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