OWL: OCOSH Classification/Foot Deformities/Congenital Foot Deformities

Acheiropodia OrphaNet

Not Available — 2007-07-07 09:30:56 GMT

Acheiropody is a very rare condition characterized by bilateral congenital amputations of the hands and feet

Acrocallosal Syndrome

Not Available — 2005-07-16 09:30:56 GMT

Mental and growth retardation, polysyndactyly. Nord Database

Brachymetatarsia a case presentation

Not Available — 2008-04-04 09:30:56 GMT

Podiatry Blog website with discussion of a case by podiatrists and comments by patients. Wide range of results from surgical intervention

Carpenter Syndrome

Not Available — 2005-07-16 09:30:56 GMT

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

Case 10. Skewfoot

Scott Norris, D.O. — 2002-02-04 09:30:56 GMT

SKEWFOOT IN CHILD WITH UNDIAGNOSED SKELETAL DYSPLASIA
This is a 6 year old white male, with an undiagnosed skeletal dysplasia, who has been followed for 5.5 yrs. Previous surgery includes bilateral femoral and tibial osteotomies for bilateral valgus deformities with good results. His foot deformity has never been treated with with casts or splints, but has worn AFO braces for persistent valgus hind foot deformities. Present exam reveals the following bilateral foot deformities.
1. hindfoot valgus of approx. 20-30 degrees
2. metatarsus adductus
3. prominence of the talar head in the medial arch with thickened callus over the bony prominence

Craniofrontonasal dysplasia

Not Available — 2005-07-16 09:30:56 GMT

malformations of the fingers and toes, and/or underdevelopment of portions of the face (midface hypoplasia); ocular hypertelorism

Dominant preaxial brachydactyly with hallux varus and thumb abduction

Christian et al — 2007-10-25 09:30:56 GMT

Am J Hum Genet. 1972 November; 24(6 Pt 1): 694�701. Joe C. Christian, Kyu S. Cho, Edmund A. Franken, and Barry H. Thompson

Ellis Van Creveld Syndrome

Not Available — 2005-07-16 09:30:56 GMT

short limb dwarfism, additional fingers and/or toes (polydactyly), abnormal development of fingernails and, in over half of the cases, congenital heart defects. NORD Database

Jackson Weiss Syndrome

Not Available — 2005-07-16 09:30:56 GMT

Craniofacial abnormalities. Broad great toes. Jackson-Weiss Syndrome (JWS) is a rare genetic disorder characterized by distinctive malformations of the head and facial (craniofacial) area and abnormalities of the feet. The range and severity of symptoms and findings may be extremely variable, including among affected members of the same family (kindred). However, primary findings may include premature closure of the fibrous joints (cranial sutures) between certain bones of the skull (craniosynostosis); unusually flat, underdeveloped midfacial regions (midfacial hypoplasia); abnormally broad great toes; and/or malformation or fusion of certain bones within the feet. In some cases, Jackson-Weiss Syndrome may result from new genetic changes (mutations) that appear to occur randomly for unknown reasons (sporadically). In other affected individuals, the disorder may be inherited as an autosomal dominant trait.

Jackson-Weiss Syndrome OMIM

McKusick — 2007-11-12 09:30:56 GMT

Jackson et al. (1976) reported a syndrome of craniosynostosis, midfacial hypoplasia, and foot anomalies in an Amish kindred. Enlarged great toes and craniofacial abnormalities suggested Pfeiffer syndrome (101600); however, thumb abnormalities were not present.

Meckel's Syndrome

Not Available — 2005-07-16 09:30:56 GMT

Polydactyly, encephalocoele and polcystic kidneys. NORD database
Meckel syndrome is a rare inherited disorder characterized by abnormalities affecting several organ systems of the body (multisystem). Three classic symptoms are normally associated with Meckel syndrome: protrusion of a portion of the brain and its surrounding membranes (meninges) through a defect in the back or front of the skull (occipital encephalocele), multiple cysts on the kidneys (polycystic kidneys), and extra fingers and/or toes (polydactyly). Affected children may also have abnormalities affecting the head and face (craniofacial area), liver, lungs, and genitourinary tract. Meckel syndrome is inherited as an autosomal recessive trait.

Metatarsal lengthening by callus distraction for brachymetatarsia

Rose — 2008-04-04 09:30:56 GMT

Rec Rose: Metatarsal Lengthening By Callus Distraction For Brachymetatarsia : Case Report and Review of the Literature. The Internet Journal of Third World Medicine. 2004. Volume 1 Number 2.
Congenital metatarsal shortening (brachymetatarsia) causes minor disability in daily life. However, patients are likely to seek medical care complaining mainly of cosmetic problems when they reach adolescence or adult life. Callus distraction is a unique method for enlongating a long bone. As with any lengthening procedure by callotasis there are complications and these can be avoided or minimized by careful monitoring of progress throughout distraction and consolidation. This is the first reported case of callus distraction for brachymetatarsia from the English speaking Caribbean. The technique and complications are discussed.

Orocraniodigital Syndrome

Not Available — 2005-07-16 09:30:56 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 09:30:56 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).

Pediatric Foot Disorders Congenital Abnormalities SOA Textbook

R. Jay Cummings — 2007-07-01 09:30:56 GMT

The congenital abnormalities covered in this chapter are: metatarsus adductus, skew foot, congenital clubfoot, calcaneovalgus foot, vertical talus, and tarsal coalition. Author - R. Jay Cummings, M.D. Nemours Children's Clinic Jacksonville, FL 32207