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Sakati Syndrome
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).
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).
Simpson Dysmorphia
cardiac malformations, mild to moderate mental retardation, cleft palate, and polydactyly. NORD Database
Synonyms of Simpson Dysmorphia Syndrome
* Bulldog Syndrome
* DGSX Golabi-Rosen Syndrome, Included
* Dysplasia Gigantism Syndrome, X-Linked
* SDYS
* SGB Syndrome
* Simpson-Golabi-Behmel Syndrome
Simpson dysmorphia syndrome types 1 and 2 are two forms of a rare, X-linked recessive, inherited disorder characterized by unusually large fetuses (prenatal overgrowth) and unusually large babies (postnatal overgrowth). In addition, affected individuals have characteristic facial features, more than two nipples (super-numerary nipples), and multisystemic malformations that may vary from child to child. Chief among these are cardiac malformations, mild to moderate mental retardation, cleft palate, and more than the five fingers and/or toes (polydactyly).
Synonyms of Simpson Dysmorphia Syndrome
* Bulldog Syndrome
* DGSX Golabi-Rosen Syndrome, Included
* Dysplasia Gigantism Syndrome, X-Linked
* SDYS
* SGB Syndrome
* Simpson-Golabi-Behmel Syndrome
Simpson dysmorphia syndrome types 1 and 2 are two forms of a rare, X-linked recessive, inherited disorder characterized by unusually large fetuses (prenatal overgrowth) and unusually large babies (postnatal overgrowth). In addition, affected individuals have characteristic facial features, more than two nipples (super-numerary nipples), and multisystemic malformations that may vary from child to child. Chief among these are cardiac malformations, mild to moderate mental retardation, cleft palate, and more than the five fingers and/or toes (polydactyly).
Summitt Syndrome
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).
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).
Trisomy 13 Syndrome
Multiple congenital defects including polydactyly. NORD Database
Synonyms of Trisomy 13 Syndrome
* Chromosome 13, Trisomy 13 Complete
* Complete Trisomy 13 Syndrome
* D Trisomy Syndrome
* Patau Syndrome
Synonyms of Trisomy 13 Syndrome
* Chromosome 13, Trisomy 13 Complete
* Complete Trisomy 13 Syndrome
* D Trisomy Syndrome
* Patau Syndrome
