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Acrofacial dysostosis, Palagonia type

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: AFD- Palagonia type; Palagonia form of AFD; Palagonia type of acrofacial dysostosis
SNOMED CT: Acrofacial dysostosis Palagonia type (720429007)
Modes of inheritance:
Unknown inheritance
MedGen UID:
Concept ID:
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
Monarch Initiative: MONDO:0011154
OMIM®: 601829
Orphanet: ORPHA1787


A very rare form of acrofacial dysostosis, reported in four members of a family from the Sicilian village of Palagonia. The syndrome has characteristics of normal intelligence, shortness of stature, and mild acrofacial dysostosis (malar hypoplasia, micrognathia and webbing of digits with shortening of the fourth metacarpals) associated with oligodontia, normal or high arched palate, aplasia cutis verticis with pili torti, mild cutaneous syndactyly of digits 2-5, webbing of digits and shortening of the fourth metacarpals and unilateral cleft lip. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcrofacial dysostosis, Palagonia type
Follow this link to review classifications for Acrofacial dysostosis, Palagonia type in Orphanet.

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