- An inherited disorder causing abnormalities of the skull and face and the hands and feet. In acrocephalosyndactyly there is closure too-early of some of the sutures of the skull (craniosynostosis). This results in an abnormally shaped head, which is unusually tall and peaked, and an abnormally shaped face with shallow eye sockets and underdevelopment of the midface. There is fusion of fingers and toes (syndactyly) and broad ends of the thumbs and big toes. Surgery is often useful to correct the abnormalities of the skull, face, hands and feet. Acrocephalosyndactyly is an autosomal dominant trait with boys and girls affected equally. A affected parent can have transmit the gene for the disorder or both parents can be normal with the disorder appearing in the child due to a new mutation. The best-known type of acrocephalosyndactyly is Apert syndrome which is due to a mutation in the fibroblast growth factor receptor 2 (FGFR2) gene on chromosome 10. Different mutations in FGFR2 are responsible for two other genetic diseases, namely, Pfeiffer syndrome (another type of acrocephalosyndactyly) and Crouzon syndrome (purely a craniofacial disorder with no hand or foot problems). All are dominant traits.
* * *A group of congenital syndromes characterized by craniosynostosis with abnormal head shape and cutaneous and/or bony syndactyly. There are several types with most types inherited as autosomal dominant. The phenotypes of types II and IV are not well defined. [acrocephaly + G. syn, together, + daktylos, finger]
* * *ac·ro·ceph·a·lo·syn·dac·ty·ly -.sef-ə-(.)lō-sin-'dak-tə-lē n, pl -lies a congenital syndrome characterized by a peaked head and webbed or fused fingers and toes
* * *ac·ro·ceph·a·lo·syn·dac·ty·ly (ak″ro-sef″ə-lo-sin-dakґtə-le) [acrocephaly + syndactyly] any of a group of autosomal dominant disorders in which craniostenosis is associated with acrocephaly and syndactyly, sometimes with additional anomalies. The term is occasionally used to denote Apert syndrome (acrocephalosyndactyly, type I).
Medical dictionary. 2011.
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acrocephalosyndactyly — ▪ congenital disorder also called Apert syndrome congenital malformation of the skeleton affecting the skull and limbs. The disorder most often is hereditary, but it may appear spontaneously. The head appears pointed (acrocephaly) because … Universalium
acrocephalosyndactyly — n. any one of a group of related inherited disorders, including Apert syndrome, resulting in abnormalities of the skull (craniosynostosis), face, and hands and feet (syndactyly) … The new mediacal dictionary
acrocephalosyndactyly type I — Apert syndrome … Medical dictionary
acrocephalosyndactyly type III — Chotzen syndrome … Medical dictionary
acrocephalosyndactyly type V — Pfeiffer syndrome … Medical dictionary
Apert syndrome acrocephalosyndactyly — An inherited disorder causing abnormalities of the skull, face and hands and feet. There is premature closure of some of the sutures of the skull (craniosynostosis) resulting in an abnormally shaped head (which is unusually tall but short from… … Medical dictionary
Syndrome, Apert (acrocephalosyndactyly) — An inherited disorder with abnormalities of the skull and face and the hands and feet. There is premature closure of the sutures of the skull (craniosynostosis). This results in an abnormal head shape, which is unusually tall but short from front … Medical dictionary
Apert syndrome — Infobox Disease Name = Apert syndrome Caption = DiseasesDB = 33968 ICD10 = ICD10|Q|87|0|q|80 ICD9 = ICD9|755.55 ICDO = OMIM = 101200 MedlinePlus = 001581 eMedicineSubj = ped eMedicineTopic = 122 MeshID = D000168 Apert syndrome, virtually… … Wikipedia
Список наследственных заболеваний — Список генетических заболеваний Основные статьи: наследственные заболевания, Наследственные болезни обмена веществ, Ферментопатия. В большинстве случаев приведен также код, указывающий на тип мутации и связанные с ней хромосомы. См. также система … Википедия
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary