OWL: OCOSH Classification/Bone Diseases/Bone Developmental Diseases/Dysostoses/Syndactyly/Acrocephalosyndactylia

Goodman Syndrome

Not Available — 2005-07-16 22:43:24 GMT

Goodman Syndrome (Acrocephalopolysyndactyly Type IV) is an extremely rare genetic disorder characterized by marked malformations of the head and face, abnormalities of the hands and feet, and congenital heart disease. ACPS type IV. Nord Database

Pfeiffer Syndrome

Not Available — 2005-07-16 22:43:24 GMT

Acrocephalosyndactyly (ACS) disorder type V. acrocephaly, and webbing or fusion of certain fingers and/or toes (syndactyly). NORD Database
Synonyms of Pfeiffer Syndrome Type I * Acrocephalosyndactyly Type I, Subtype I * Acrocephalosyndactyly V (ACS5 or ACS V), Subtype I * Classic Type Pfeiffer Syndrome * Noack Syndrome, Type I

Saethre Chotzen Syndrome

Not Available — 2005-07-16 22:43:24 GMT

craniosynostosis, causing the top of the head to appear pointed (acrocephaly), and/or webbing or fusion (syndactyly) of certain fingers or toes (digits). aka acrocephalosyndactyly type III. partial fusion of soft tissues (cutaneous syndactyly) of certain fingers and toes (digits); unusually short digits (brachydactyly); and broad great toes. NORD Database
Synonyms of Saethre Chotzen Syndrome * ACS Type III * ACS3 * Acrocephalosyndactyly Type III * Acrocephaly, Skull Asymmetry, and Mild Syndactyly * Chotzen Syndrome * SCS

Sakati Syndrome

Not Available — 2005-07-16 22:43:24 GMT

aka ACPS III Craniosynostosis and polysyndactyly. NORD Database
Synonyms of Sakati Syndrome
* ACPS III
* ACPS with Leg Hypoplasia
* Acrocephalopolysyndactyly Type III
* Sakati-Nyhan Syndrome
Sakati Syndrome belongs to a group of rare genetic disorders known as "Acrocephalopolysyndactyly" (ACPS). All forms of ACPS are characterized by premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis), causing the top of the head to appear pointed (acrocephaly); webbing or fusion (syndactyly) of certain fingers or toes (digits); and/or more than the normal number of digits (polydactyly). In addition, Sakati Syndrome, which is also known as ACPS type III, is associated with abnormalities of bones of the legs, structural heart malformations that are present at birth (congenital heart defects), and/or other findings. Sakati Syndrome is thought to be caused by a new genetic change (mutation) that occurs randomly for unknown reasons (sporadically).

Summitt Syndrome

Not Available — 2005-07-16 22:43:24 GMT

Craniosynostosis and polysundactyly. May be one of the ACPS group of syndromes. NORD database.
Synonyms of Summitt Syndrome
* Summitt's Acrocephalosyndactyly
Summitt syndrome is an extremely rare genetic disorder characterized by malformations of the head, abnormalities of the hands and/or feet, and obesity. The syndrome is inherited as an autosomal recessive genetic trait. Some researchers believe that Summitt syndrome is one of seven closely related forms of a disorder characterized by characteristic malformations of the head and webbing between several toes and/or fingers (acrocephalopolysyndactyly). The malformations of the head are the result of the premature closings of the seams (cranial sutures) between the bony plates that make up the skull. Of the various forms of this disorder, many geneticists believe that Summitt syndrome is closely related to Carpenter syndrome (acrocephalopolysyndactyly type II).