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Mental and growth retardation, polysyndactyly. Nord Database

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

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

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

Dwarfism, Madelung Deformity. NORD Database
Dyschondrosteosis is a very rare inherited disorder characterized by unusually shortened, bowed bones in the forearms (radius and ulna), abnormal deviation of the wrist toward the thumb side of the hand due to shortening of the radius and dislocation of the end portion of the ulna (Madelung deformity), unusually short lower legs, and associated short stature (mesomelic dwarfism). Affected individuals may also exhibit abnormalities of the large bone of the upper arm (humerus); abnormal bony growths projecting outward from the surface of the shin bones (exostoses of the tibia); unusually short, broad bones in the fingers and toes; and/or abnormalities of the hipbone (i.e., coxa valga). Dyschondrosteosis appears to affect females more severely than males. The disorder is inherited as an autosomal dominant or "pseudoautosomal" trait.

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

Madelung deformity (MD) of the wrist is characterized by a growth disturbance in the volar-ulnar distal radial physis that results in a volar and ulnar tilted distal radial articular surface, volar translation of the hand and wrist, and a dorsally prominent distal ulna. It occurs predominantly in adolescent females who present with pain, decreased range of motion, and deformity. It often has a genetic etiology and is associated with mesomelic dwarfism and a mutation on the X chromosome. The deformity can be treated surgically by addressing the deforming bony and ligamentous lesions, correcting the abnormal position of the radial articular surface, and equalizing the longitudinal levels of the distal radius and ulna.
Synonyms and related keywords: progressive subluxation of the wrist, idiopathic curvature of the radius, MD, wrist pain, wrist deformity, spontaneous forward subluxation of the hand, Leri-Weill dyschondrosteosis, multiple hereditary osteochondromatosis, Ollier disease, achondroplasia, multiple epiphysial dysplasia, mucopolysaccharidoses, mucopolysaccharidosis, Hurler syndrome, Morquio syndrome
Lamberti & Light 2008

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).

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

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