Disease Information for Carpenter Syndrome

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Clinical Manifestations
Signs & Symptoms
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facial Asymmetry
Sunken Cheek Bones
Wide Nasal Bridge
Poor weight gain/child
High arched palate
Hypoplasia Narrow Maxilla
Receding chin deformity
Intelligence normal
Mental Deficiency Child
Acrocephaly
Asymmetric Limbs
Cranial asymmetry
Genu valgus/knockneed/sign
Short fingers/toes (Brachydactyly)
Turricephaly (Tower skull)
Lateral Asymmetry
Corneal clouding
Downward sloping eyes/Antimongoloid slant
Epicanthal folds
Low set ears/congenital
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Children/all
Associated Diseases & Rule outs
Associated Disease & Complications
Carpenter Syndrome
Cataract
Cloverleaf skull syndrome
Congenital heart disease
Congenital urinary tract malformations
Craniosynostosis
Cryptorchidism
Duplication vena cava anomaly
Ear deformities/congenital
Growth retardation/failure
Hypertelorism/Wide Spaced Eyes
Hypogonadism, male
Limb deformities/anomalies
Mental retardation
Microcornea
Micrognathia/congenital small chin
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Obesity
Obesity in Children
Patella, dislocating
Polydactyly/Supernumery digits
Pulmonic valve stenosis
Syndactyly/Webbing
Tetralogy of Fallot
Transposition great vessels
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Faces-cranio online database (ex)
Pathophysiology
Pathophysiology/Asymmetric deformities
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Dystostosis/craniofacial (ex)
Synonyms
Synonym
Carpenter Syndrome, Synonym/Acrocephalopolysyndactyly 2 (ACPS 2), Synonym/Goodman Syndrome, Synonym/Summitt Syndrome
Definition

Synontms: ACPS II; Acrocephalopolysyndactyly Type II;

Carpenter syndrome belongs to a group of rare genetic disorders known as "acrocephalopolysyndactyly" (ACPS) disorders. 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); Carpenter syndrome is also known as ACPS type II; Carpenter syndrome is typically evident at or shortly after birth. Due to craniosynostosis, the top of the head may appear unusually conical (acrocephaly) or the head may seem short and broad (brachycephaly); In addition, the cranial sutures often fuse unevenly, causing the head and face to appear dissimilar from one side to the other (craniofacial asymmetry). Additional malformations of the skull and facial (craniofacial) region may include downslanting eyelid folds (palpebral fissures); a flat nasal bridge; malformed (dysplastic), low-set ears; and a small, underdeveloped (hypoplastic) upper and/or lower jaw (maxilla and/or mandible);Individuals with Carpenter syndrome may also have unusually short fingers and toes (brachydactyly); partial fusion of the soft tissues (cutaneous syndactyly) between certain digits; and the presence of extra (supernumerary) toes or, less commonly, additional fingers (polydactyly); In some instances, additional physical abnormalities are present, such as short stature, structural heart malformations (congenital heart defects), mild to moderate obesity, weakening in the abdominal wall near the navel through which the intestine may protrude (umbilical hernia), or failure of the testes to descend into the scrotum (cryptorchidism) in affected males. In addition, many individuals with the disorder are affected by mild to moderate mental retardation; However, intelligence is normal in some instances; Carpenter syndrome is usually inherited as an autosomal recessive trait------------NORD 2007]----------

Apert-Crouzon syndrome; Crouzon’s syndrome; Dysostosis craniofacialis Crouzon; Virchow’s oxycephaly; Vogt’s cephalosyndactyly; Pseudo-Crouzon’s syndrome; (Franceschetti’s); Vogt "s syndrome; Crouzon-Apert disease

Acrocephalosyndactyly II (ACS II), dysostosis craniofacialis, dysostosis craniofacialis hereditaria, craniofacial dysostosis syndrome, morbus Crouzon;

A rare form of Carpenter"s syndrome; acrocephalopoysyndactyly), this congenital syndrome combines features of the Apert syndrome with those of the Crouzon syndrome; Condition characterized by cranial deformity (oxycephaly) craniosynostosis, cranial synostosis, premature closure of the cranial sutures, hypertelorism, proptosis, optical atrophy, exophthalmus, divergent strabismus, maxillary hypoplasia, prognathism, a beaked nose and hypoplasia of the maxilla, fusion of the fingers with single nails and short broad thumbs, thus giving the hands a mitten-like appearance, and short higher extremity; It is associated with facial characteristics of Crouzon’s facies; Mental retardation, cleft palate and increased intracranial pressure can occur; Most cases are sporadic, representing new mutations; Autosomal dominant and recessive cases reported; Old paternal age;

[whonamedit.com 2005]----------------------------------------------------------------

Carpenter"s syndrome; Carpenter"s syndrome is an autosomal recessive condition associated with multiple fusion of skull sutures - and hence craniosynostosis - mental retardation and syndactyly; The sutures most often involved in the craniosynostosis are the coronals; however the lambdoid and sagittal sutures may also fuse early;-------- [GP Notebook 2005]---------Acrocephalopolysyndactyly type 2 or Carpenter"s syndrome or Goodman syndrome or Summitt syndrome

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Acrocephalopolysyndactyly type 2:

"Craniosynostosis with craniofacial dysmorphism, finger and toe abnormalities, heart defects, growth retardation, and other disorders."

Source: Online Congenital Multiple Anomaly/Mental Retardation Syndromes, 1999 [Medical Encyclopedia 2005]

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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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