Craniofrontonasal dysplasia-Poland anomaly syndrome

MedGen UID:: 929528
•Concept ID:: C4303859
•: Disease or Syndrome

Synonyms:	Craniofrontonasal dysplasia with Poland anomaly syndrome; craniofrontonasal dysplasia-Poland anomaly syndrome; Webster Deming syndrome; Webster-Deming syndrome
SNOMED CT:	Craniofrontonasal dysplasia with Poland anomaly syndrome (720757001); Webster Deming syndrome (720757001)
Modes of inheritance:	Unknown inheritance MedGen UID: 989040 •Concept ID: CN307042 • Finding Source: Orphanet Hereditary clinical entity whose mode of inheritance is unknown. See: This record Unknown inheritance (Orphanet)

Monarch Initiative:	MONDO:0015464
Orphanet:	ORPHA1521

Definition

A poly-malformation syndrome with characteristics of craniosynostosis, Poland anomaly, cranio-fronto-nasal dysplasia and genital and breast anomalies. Less than ten cases have been described so far. [from SNOMEDCT_US]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVCraniofrontonasal dysplasia-Poland anomaly syndrome

Pathological process
- Disease
  - Non-Neoplastic Disorder
    - Non-Neoplastic Disorder by Special Category
      - Rare Non-Neoplastic Disorder
        Frontonasal dysplasia
        Craniofrontonasal dysplasia-Poland anomaly syndrome

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Craniofrontonasal dysplasia-Poland anomaly syndrome

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