Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Synonyms: SOPH syndrome
A rare genetic developmental defect during embryogenesis malformation syndrome characterized by severe postnatal growth retardation craniofacial dysmorphism which includes a progeroid facial appearance brachycephaly with hypoplasia of the frontal and parietal tubers and a flat occipital area narrow forehead prominent glabella small orbit slight bilateral exophthalmos straight nose hypoplastic cheekbones long philtrum and thin lips skeletal abnormalities (i.e. micromelia brachydactyly and severe short stature with short limbs) normal intelligence Pelger-Huët anomaly of leukocytes loose skin with decreased tissue turgor and bilateral optic atrophy with loss of color vision and visual acuity. Recurrent liver failure triggered by fever has been occasionally reported. Radiographs may evidence delayed bone age late ossification and/or osteoporosis.
Data from Orphanetare used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version May 2023.
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Short stature-optic atrophy-Pelger-Huët anomaly syndrome?
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Patient Advocate Foundation
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For a list of clinical trials in this disease area, please click here.