Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder. It is characterised by craniofacial malformations, obesity, syndactyly, meaning fused digits, and polydactyly, meaning extra digits. Acrocephalopolysyndactyly is a variation of acrocephalosyndactyly in which polydactyly is present. The condition was first characterised in 1909 and takes its name from George Alfred Carpenter, who described it.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Causative Agent
Causative Agent (category) First Described Sources
1. MedlinePlus Genetics, National Library of Medicine: Carpenter syndrome
MedlinePlus Genetics, National Library of MedicineDescription: skull bonesQuote, Description: skull bones
Carpenter syndrome is a condition characterized by the premature fusion of certain skull bones (craniosynostosis), abnormalities of the fingers and toes, and other developmental problems.
2. World Health Organization ICD-10: ICD-10 Version:2019 - Q80-Q89
World Health Organization ICD-10Category Q87.0Quote, Category Q87.0
Q87.0 Congenital malformation syndromes predominantly
3. Carpenter syndrome (Wikipedia)
Lead
an extremely rare autosomal recessive congenital disorder
Lead [first-described-year]
It was first characterized in 1909, and is named for George Alfred Carpenter.
Lead: disease category
Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosomal recessive congenital disorder characterized by craniofacial malformations, obesity, syndactyly, and polydactyly.
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