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

Apert Syndrome

Not Available — 2005-07-16 23:22:36 GMT

distinctive malformations of the head and facial (craniofacial) region and defects of the hands and feet. In some instances, mental retardation. unusually broad thumbs and great toes, short fingers, and/or partial to complete fusion (syndactyly) of certain fingers and toes (digits). Most commonly, there is complete fusion of bones within the second to the fourth fingers and the presence of a single common nail ("mitten-like" syndactyly). NORD Database

Carpenter Syndrome

Not Available — 2005-07-16 23:22:36 GMT

Also known as Acrocephalopolysyndactyly Type II. Craniosynostosis and polysyndactyly. NORD Database

Greig Cephalopolysyndactyly Syndrome

Not Available — 2005-07-16 23:22:36 GMT

Craniofacial malformations, polysyndactyly. NORD Database.
Greig cephalopolysyndactyly syndrome (GCPS) is a rare genetic disorder characterized by physical abnormalities affecting the fingers and toes (digits) and the head and facial (craniofacial) area. Characteristic digital features may include extra (supernumerary) fingers and/or toes (polydactyly), webbing and/or fusion of the fingers and/or toes (syndactyly), and/or additional abnormalities. Craniofacial malformations associated with this disorder may include a large and/or unusually shaped skull; a high, prominent forehead (frontal bossing); an abnormally broad nasal bridge; widely spaced eyes (ocular hypertelorism); and/or other physical abnormalities. The range and severity of symptoms may vary greatly from case to case. In most cases, GCPS is inherited as an autosomal dominant trait.
Synonyms of Greig Cephalopolysyndactyly Syndrome * Frontodigital Syndrome (obsolete) * GCPS * Hootnick-Holmes Syndrome (obsolete) * Polysyndactyly with Peculiar Skull Shape * Polysyndactyly-Dysmorphic Craniofacies, Greig Type

Orocraniodigital Syndrome

Not Available — 2005-07-16 23:22:36 GMT

Cleft lip and palate, hypoplasia and/or syndactyly. Mental retardation. Orocraniodigital syndrome is an extremely rare inherited disorder characterized by multiple malformations of the head and face (craniofacial area) and the fingers and toes (digits). Major characteristics may include a vertical groove in the upper lip (cleft lip) and/or the inside, upper portion of the mouth (cleft palate), an abnormally small head (microcephaly), widely spaced eyes (ocular hypertelorism), improper development (hypoplasia) of the thumbs and/or toes, and/or webbing (syndactyly) of the toes. In some cases, malformations of certain skeletal bones may also be present. Mental retardation has occurred in the majority of cases. Orocraniodigital syndrome may be inherited as an autosomal recessive genetic trait. NORD Database

Pallister-Hall Syndrome

Not Available — 2005-07-16 23:22:36 GMT

Polysyndactyly, facial and brain abnormalities and imperforate anus. NORD Database
Pallister-Hall syndrome (PHS) is an extremely rare genetic disorder that may be apparent at birth (congenital). The symptoms and findings associated with the disorder may vary greatly in range and severity from case to case. However, in many individuals with Pallister-Hall syndrome, associated abnormalities may include a malformation of the hypothalamus (hypothalamic hamartomablastoma), a portion of the brain that coordinates the function of the pituitary gland and has several other functions; decreased pituitary function (hypopituitarism); the presence of extra (supernumerary) fingers and/or toes (central or postaxial polydactyly); an abnormal division of the epiglottis (bifid epiglottis); and/or a condition in which a thin covering blocks the anal opening or the passage that normally connects the anus and the lowest part of the large intestine (rectum) fails to develop (imperforate anus). Additional symptoms and findings may include characteristic malformations of the head and facial (craniofacial) area and/or other abnormalities. Pallister-Hall syndrome has autosomal dominant inheritance. Cases in which a positive family history has not been found are thought to represent new genetic changes (mutations) that occur randomly, with no apparent cause (sporadic).

Syndactyly eMedicine Orthopedics

E Gene Deune, MD — 2008-04-03 23:22:36 GMT

Syndactyly is the most common congenital malformation of the limbs, with an incidence of 1 in 2000-3000 live births. Syndactyly can be classified as simple when it involves soft tissues only and classified as complex when it involves the bone or nail of adjacent fingers. It is a shared feature of more than 28 syndromes, including Poland, Apert, and Holt-Oram syndromes. Syndactyly is a failure of differentiation in which the fingers fail to separate into individual appendages. This separation usually occurs during the sixth and eighth weeks of embryologic development. The root words of the term syndactyly are derived from the Greek words syn, meaning together, and dactyly, meaning fingers or digits.
Synonyms and related keywords: simple syndactyly, incomplete simple syndactyly, complete simple syndactyly, complex syndactyly, complicated syndactyly, type I acrocephalosyndactyly, acrocephalosyndactyly, Apert syndrome, type I Apert syndrome, type II Apert syndrome, type III Apert syndrome, Apert's syndrome, Apert syndactyly, Poland syndrome, constriction band syndrome, polydactyly, cleft hands, ring constrictions, brachysyndactyly, symbrachyphalangisms, spade hands, mitten hands, spoon hands, rosebud hands, hoof hands
Author: E Gene Deune, MD 2007

Birth- Syndactyly

2002-01-31 23:22:36 GMT

Birth- Syndactyly and delta phalanx

2002-01-31 23:22:36 GMT