Core Curriculum
Objectives
1. Describe common variants of polydactyly of the foot
2. Discuss management of polydactyly of the foot
Discussion point
1. Is polydactyly of the foot genetically related to polydactyly of the hand?

eMedicine Cara Novick 2005
Synonyms and related keywords: duplicate toe, extra toe, duplicate digit, extra digit, forefoot anomaly, syndactyly, Ellis-van Creveld syndrome, trisomy 13, tibial hemimelia, trisomy 21
Polydactyly most commonly refers to the presence of 6 toes on one foot, but more toes are possible. Polydactyly may be associated with syndactyly. It most frequently occurs as an isolated trait with autosomal dominant inheritance and variable penetrance. Other patterns of inheritance, sporadic occurrence, and association with syndromes are also possible.

Cerebellar malformation + Polydactyly. NORD Database
Synonyms of Joubert Syndrome * Cerebellar Vermis Agenesis, Hypernea, Episodic-Eye Moves-Ataxia-Retardation * Cerebellar Vermis Aplasia * Cerebellarparenchymal Disorder IV * Cerebelloparenchymal Disorder IV Familial * Chorireninal Coloboma-Joubert Syndrome * Hyperpnea, Episodic-Abnormal Eye Movement * Joubert-Bolthauser Syndrome * Kidneys, Cystic-Retinal Aplasia Joubert Syndrome * Polydactyly-Joubert Syndrome * Retinal Aplastic-Cystic Kidneys-Joubert Syndrome * Vermis Aplasia * Vermis Cerebellar Agenesis

growth retardation and delayed bone age; mental retardation; distinctive abnormalities of the head and face (craniofacial dysmorphism), including widely spaced eyes (hypertelorism), a broad nasal bridge, and an abnormally large or "beak-shaped" nose; abnormally broad thumbs and great toes (halluces); and/or breathing and swallowing difficulties. NORD Database
Synonyms of Rubinstein Taybi Syndrome * Broad Thumbs and Great Toes, Characteristic Facies, and Mental Retardation * Michail-Matsoukas-Theodorou-Rubinstein-Taybi Syndrome * RSTS * Rubinstein Taybi (RTS) Broad Thumb-Hallux syndrome * Rubinstein syndrome

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

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).

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).

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).

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