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Acrocraniofacial dysostosis

MedGen UID:
Concept ID:
Disease or Syndrome
Synonym: Kaplan Plauchu Fitch syndrome
SNOMED CT: Acrocraniofacial dysostosis (720418008); Kaplan Plauchu Fitch syndrome (720418008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Monarch Initiative: MONDO:0008712
OMIM®: 201050
Orphanet: ORPHA949


A very rare form of acrofacial dysostosis, reported in two sisters to date, with characteristics of short stature, acrocephaly, ocular hypertelorism, ptosis of eyelids, ocular proptosis, downslanting palpebral fissures, high nasal bridge, anteverted nostrils, short philtrum, cleft palate, micrognathia, abnormal external ears, preauricular pits, mixed hearing loss, bulbous digits, metatarsus varus, pectus excavatum and various radiological abnormalities. Features of this syndrome were reported to overlap with otopalatodigital syndrome types 1 and 2. There have been no further descriptions in the literature since 1988. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAcrocraniofacial dysostosis
Follow this link to review classifications for Acrocraniofacial dysostosis in Orphanet.

Recent clinical studies


Huang HW, Lin H, Chang SY, Hsu YH, Hsu TY
Chang Gung Med J 2001 Dec;24(12):816-9. PMID: 11858399
Cohen MM Jr
Am J Med Genet Suppl 1988;4:99-148. doi: 10.1002/ajmg.1320310514. PMID: 3144990


Azimi C, Kennedy SJ, Chitayat D, Chakraborty P, Clarke JT, Forrest C, Teebi AS
Am J Med Genet A 2003 Mar 1;117A(2):127-35. doi: 10.1002/ajmg.a.10021. PMID: 12567409

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