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

Mental and growth retardation, polysyndactyly. Nord Database

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

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

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

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

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

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 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.

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.

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

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).

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

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

Wheeless' Textbook of Orthopaedics
polydactyly in the foot usually involes a single duplication (hexadactyly)
- associated anomalies:
- duplications occur bilaterally in about 40-50% of patients, but often the duplications are not symmetric;
- polydactyly of hand occurs in about 1/3 of patients;
- syndactyly of the toes occurs in about 1/5 patients;
- Down's syndrome will be present in a minority of cases;