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Condition

Craniosynostosis-fibular aplasia syndrome

Congenital Malformations and Chromosomal Abnormalities

Craniosynostosis-fibular aplasia syndrome, also called Lowry syndrome, is an extremely rare condition marked by premature fusion of the coronal skull sutures, absence of the fibula bone, undescended testicles, and distinctive palmar creases. It is known only from two brothers first reported in 1972, one of whom was followed up in 1993 with normal cognitive development.

Facts
Classification
ICD-10 Chapter
XVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1
Communicable or Non-communicable
Non-Communicable 2
Transmission Route
Non-Transmissible 2
Causative Agent
Causative Agent (category)
Genetic / Hereditary 3
First Described
1972 4
Sources
1. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVII
Quote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
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2. Wikipedia: Non-communicable disease
Wikipedia
  • Lead section, transmission-route statement (inferred from disease-category)
    Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
  • Inherited/genetic diseases section
    Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
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3. Monarch Disease Ontology (MONDO) via EMBL-EBI Ontology Lookup Service: craniosynostosis-fibular aplasia syndrome
Monarch Disease Ontology (MONDO) via EMBL-EBI Ontology Lookup ServiceMONDO MONDO:0009038 definition: causative agent
Quote, MONDO MONDO:0009038 definition: causative agent
Craniosynostosis-fibular aplasia is an extremely rare genetic disease, reported in only 2 brothers to date, characterized by the combination of craniosynostosis (involving both coronal sutures), congenital absence of the fibula, cryptorchidism, and bilateral simian creases.
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4. Craniosynostosis-fibular aplasia syndrome (Wikipedia)
Lead section
Quote, Lead section
Craniosynostosis-fibular aplasia syndrome (also known as craniosynostosis with fibular aplasia or Lowry syndrome) is a rare syndrome characterized by bicoronal craniosynostosis, absent fibula, cryptorchidism, and bilateral simian creases.
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Wikidata: Craniosynostosis-fibular aplasia syndrome
Wikidata Q123699832, class allow-list match (w-wdresolver-0926)View the Source
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