Disease Information for Cryptophthalmos (Fraser) syndrome

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Clinical Manifestations
Signs & Symptoms
Congenital low hairline
Particular physiognomy/Odd looking kids
Craniofacial Abnormalities/Congenital
Facies particular
Genital Hypoplasia/Male
Penis, small (Micropenis)
Uvula anomaly/deformity
Webbed fingers
Intelligence normal
Mental Deficiency Child
Clitoral enlargement
Clitoral enlargement/newborn
Congenital absent eyes/palpebral fissures
Narrow Palpebral Fissures
Anomalous ears/deformities
Clinical Presentation & Variations
Presentation/Multiple deformities newborn (odd look)
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Associated Diseases & Rule outs
Associated Disease & Complications
Anal Atresia
Blindness
Cleft Lip
Cleft lip/deformity
Cleft palate/deformity
Congenital anomalies
Congenital heart disease
Congenital urinary tract malformations
Cryptophthalmos syndrome
Cryptorchidism
Deafness
Facial dysplasia
Fetal anomaly
Hypospadius anomaly
Imperforate anus
Labial fusion/infant
Laryngostenosis
Limb deformities/anomalies
Meningoencephalocele
Meningomyelocele
Mental retardation
Microphallus deformity
Microphthalmos
Multiple Congenital Anomalies
Multiple congenital anomalies/Mental retardation
Renal anomaly/aplasia/hypoplasia
Syndactyly/Webbing
Uterus Didelphus/Bicornuate
Genital Hypoplasia
Hand anomalies
Disease Mechanism & Classification
Class
CLASS/Jablonski/NIH Archive Anomalies Database
CLASS/Pediatric disorders (ex)
CLASS/Eye involvement/disorder (ex)
CLASS/Globe (eye) disorder (ex)
Pathophysiology
Pathophysiology/Gene locus 4q21
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Gene locus/Chromosome 4
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Maternal Chromosome mutation
Pathophysiology/Palpebral absence/Eye/Globes present
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Congenital/developmental (category)
PROCESS/Eponymic (category)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
PROCESS/Multiple dysmorphic syndrome (ex)
PROCESS/Anomalies/Deformities/Malformations (EX)
PROCESS/Dystostosis/craniofacial (ex)
PROCESS/Congenital eye disorder (ex)
Synonyms
Synonym
Cryptophthalmos (Fraser) syndrome, Synonym/Cryptophthalmos-Syndactyly Syndrome, Synonym/Fraser-Francois Syndrome, Synonym/Fraser's syndrome
Treatment
Drug Therapy - Indication
SX/Eye Surgery
Definition

Fraser Syndrome; Cryptophthalmos-Syndactyly Syndrome

Fraser Syndrome is a rare genetic disorder characterized by partial webbing of the fingers and/or toes (partial syndactyly), kidney (renal) abnormalities, genital malformations, and/or, in some cases, complete fusion of the eyelids (cryptophthalmos) that may be associated with malformation of the eyes, causing blindness; In infants with Fraser Syndrome, renal malformations may include improper development (dysplasia), underdevelopment (hypoplasia), or absence of one or both kidneys (unilateral or bilateral renal agenesis); In affected males, one or both testes may fail to descend into the scrotum (cryptorchidism), the urinary opening (meatus) may be abnormally placed on the underside of the penis (hypospadias), and/or the penis may be abnormally small (micropenis); Affected females may have malformed fallopian tubes, an abnormally enlarged clitoris (clitoromegaly), and/or an abnormally shaped uterus (bicornate uterus); In addition, the folds of skin on either side of the vaginal opening (labia) may be abnormally fused; Infants and children with Fraser Syndrome may also have additional abnormalities including malformations of the middle and outer ear that may result in hearing impairment; Fraser Syndrome is inherited as an autosomal recessive genetic trait--------[NORD 2005]---------------------

An association of cryptophthalmos with a wide range of abnormalities, consisting mostly of orofacial defects, laryngeal stenosis, syndactyly, decreased number of digits, renal dysplasia, and hypogenitalism; A small number of cases consist of only acrofacial and urogenital malformations without cryptophthalmos; Synonym: Fraser-François syndrome. [Jablonski anomalies website 2005]

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External Links Related to Cryptophthalmos (Fraser) syndrome
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Wikipedia
Merck
Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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