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Facial dysmorphism-shawl scrotum-joint laxity syndrome

Disease definition

Facial dysmorphism-shawl scrotum-joint laxity syndrome is characterised by facial dysmorphism (hypertelorism, telecanthus, downslanting palpebral fissures, ptosis, malar hypoplasia, broad nasal bridge, thin upper lip, smooth philtrum, and low-set prominent ears) and associated with joint anomalies (genu valgum or cubitus valgus, hyper-extensible joints, etc.). It has been described in two patients (a mother and her son). The boy also had hypoplastic shawl scrotum and cryptorchidism, and the mother had mild intellectual deficit.

ORPHA:1778

  • Synonym(s):
    • Seaver-Cassidy syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: -
  • Age of onset: Neonatal
  • ICD-10: Q87.8
  • OMIM: -
  • UMLS: C2931522
  • MeSH: -
  • GARD: 4778
  • MedDRA: -

Additional information

Further information on this disease

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