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Disease definition

An extremely rare lethal autosomal recessive disorder characterized by massive birth weight, swollen globular body, generalized edema, short limbs, postaxial polydactyly, thick skin, facial dysmorphism (slanted palpebral fissures, hypertelorism, epicanthic folds, dysplastic ears), excessive connective tissue, renal dysplasia, and in some patients, organomegaly, craniosynostosis with acrocephaly, omphalocele, cleft palate, and cryptorchidism. Fewer than 10 cases have been reported to date.


Classification level: Disorder
  • Synonym(s):
    • Acrocephalopolydactylous dysplasia
    • Elejalde acrocephalopolydactyly
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q87.0
  • ICD-11: LD2F.1Y
  • OMIM: 200995
  • UMLS: C3495588
  • MeSH: C573722
  • GARD: 2096
  • MedDRA: -
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