acrocephalosyndactyly

(redirected from acroncephalosyndatylism)

acrocephalosyndactyly

 [ak″ro-sef″ah-lo″sin-dak´tĭ-le]
any of a group of autosomal dominant disorders in which craniostenosis is associated with acrocephaly (conical deformity of the head) and syndactyly (webbed fingers and toes), sometimes occurring with additional anomalies. Type I is Apert's syndrome; type III is Chotzen's syndrome; and type V is Pfeiffer's syndrome.

ac·ro·ceph·a·lo·syn·dac·ty·ly (ACPS),

(ak'rō-sef'ă-lō-sin-dak'ti-lē),
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]

acrocephalosyndactyly

/ac·ro·ceph·a·lo·syn·dac·ty·ly/ (-sef″ah-lo-sin-dak´tĭ-le) any of a group of autosomal dominant syndromes in which craniostenosis is associated with acrocephaly and syndactyly. Type I is Apert's syndrome, type III is Chotzen's syndrome, and type V is Pfeiffer's syndrome.

acrocephalosyndactyly

[ak′rō·sef′ə·lō·sin·dak′ti·lē]
Etymology: acrocephaly + syndactyly
any of a group of autosomal dominant disorders in which premature fusion of the cranium results in a conical deformity of the skull. Webbed fingers or toes are also present. The term is often used alone to denote Apert's syndrome.

acrocephalosyndactyly

A family of autosomal dominant conditions caused by premature closure of cranial sutures resulting in a peaked head and facial dysmorphia.
 
Management
Surgery to correct skull and facial abnormalities.

Acrocephalosyndactyly
Type 1: Apert syndrome.
Type 2: Apert-Crouzon syndrome; both are regarded as part of the same condition MIM 101200.
Type 3: Chotzen or Saethre-Chotzen syndrome MIM 101400.
Type 5: Pfeiffer syndrome MIM 101600.

acrocephalosyndactyly

Pediatrics A family of AD conditions due to premature closure of cranial sutures resulting in a peaked head and facial dysmorphia Imaging Skull film Management Surgery to correct skull and facial abnormalities. See Bird face.

ac·ro·ceph·a·lo·syn·dac·tyly

(ak'rō-sef'ă-lō-sin-dak'ti-lē)
A group of congenital syndromes characterized by peaking of the cranium and fusion or webbing of fingers or digits.
[acrocephaly + G. syn, together, + daktylos, finger]

acrocephalosyndactyly

single-gene mutation causing craniosynostosis (premature fusion of skull bones), midface underdevelopment, variable degrees of learning difficulties and gross syndactyly or webbing of the fingers and toes (see syndrome, Apert's; syndrome, Apert-Crouzon)