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References OMIM Gene GeneReviews HGMD HGNC
last update : 21-08-2015
Symbol SOPH
Location 2p24.3
Name short stature, optic nerve atrophy, and Pelger-Huet anomaly
Corresponding gene NBAS
Main clinical features
  • short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly, and normal intelligence
  • postnatal growth failure, loose and senile skin with depressed turgor of tissue, micromelia, brachydactyly, and bilateral optic nerve atrophy with nonprogressive loss of visual acuity, associated with complete or incomplete achromatopsia (color blindness), slender bones, epiphyseal dysplasia with multiple phalangeal pseudo-epiphyses, and small C1-C2 vertebrae causing cervical instability and myelopathy
  • Genetic determination autosomal recessive
    Function/system disorder osteo-articular
    Type disease