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         Faciocutaneoskeletal Syndrome:     more detail

61. Acronym Finder Search: What Does FCS Stand For?
FCS, Faceted Classification Schema, FCS, Facility Checking Squadron, FCS,faciocutaneoskeletal syndrome (aka Costello Syndrome), FCS, Factory Communication
http://it.acronymfinder.com/af-query.asp?string=exact&acronym=FCS

62. Birth Disorder Information Directory - F
See Goldenhar (Gorlin) syndrome. faciocutaneoskeletal (FCS) syndrome. See Costellosyndrome. Faciogenital Dysplasia. See Aarskog (Scott) syndrome
http://www.bdid.com/defectf.htm

HOME
F
F Syndrome F Form of Acropectorovertebral Dysplasia Fabry Disease Facial Asymmetry/Hemihypertrophy Facial Palsy

63. Birth Disorder Information Directory - CO-CZ
Costello syndrome (faciocutaneoskeletal FCS syndrome, Mental Retardation NasalPapillomata). Costello syndrome International Costello syndrome Support
http://www.bdid.com/defectco.htm

HOME
Co-Cy
COACH Syndrome Coarctation of (the) Aorta (CoA) Coats' Disease (Congenital Retinal Telangiectasia, Exudative Retinitis, Leber Miliary Aneurysm) Cobb Syndrome Cocaine Antenatal Infection Cochin Jewish Disorder (Haim Munk Syndrome, Keratosis Palmoplantaris Periodontopathia) Cockayne Syndrome COD-MD Syndrome CODAS Syndrome (Cerebrooculodentoauriculoskeletal Syndrome) Coffin Syndrome (Arthritis Short Stature Deafness) Coffin-Lowry Syndrome Coffin Siris Syndrome (Fifth Digit Syndrome) COFS Syndrome Cohen Hayden Syndrome (Proteus-Like Syndrome with Mental Retardation and Eye Defects) Cohen Lockood Wyborney Syndrome (Blepharophimosis Ptosis Syndactyly Mental Retardation) Cohen Syndrome Colavita Kozlowski Syndrome (Short Limb Dwarf, Lethal Colavita Kozlowski Type)

64. Costello Syndrome
syndrome, Costello syndrome. Synonym, faciocutaneoskeletal (FCS) syndrome. Summary,Retarded growth and mental development, coarse facies, nasal papillomata
http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome249.html
Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes
View the Full Record
Syndrome Costello syndrome Synonym faciocutaneoskeletal (FCS) syndrome Summary Retarded growth and mental development, coarse facies, nasal papillomata, cutis laxa of the hands and feet, and other abnormalities. Major Features Head and neck: Macrocephaly, coarse facies, large fontanels or delayed closure and wide and long forehead. Papillomata around the mouth and nares. Ears: Low-set ears with thick lobes. Eyes: Downslanting palpebral fissures and strabismus. Nose: Depressed nasal bridge and epicanthal folds. Mouth and oral structures: Wide and large mouth with thick lips, macroglossia, highly arched palate, and tooth enamel dysplasia. Neck: Short neck. Thorax: Barrel chest. Abdomen: Hernia. Hand and foot: Hyperkeratosis palmaris et plantaris, palmar nevi, short and flat hyperextensible fingers, ulnar deviation of hands, and positional defects of the feet. Dermatoglyphic findings consist of deep plantar and palmar creases. Extremities: Tight Achilles tendon and defective elbow extension.

65. Syndrome DB - Table Of Contents
faciocardiorenal syndrome faciocutaneoskeletal (FCS) syndrome Fadhil syndrome Fairbank disease FairbankKeats syndrome
http://www.nlm.nih.gov/mesh/jablonski/syndrome_toc/toc_f.html
Multiple Congenital Anomaly/Mental Retardation Syndromes
Table of Contents
Return to Entry Page
A
B C ... Z
F
facial clefting syndrome, Gypsy type
facial dysmorphia-hyperextensibility of joints-clinodactyly-growth retardation-mental retardation syndrome

facial ectodermal dysplasia

facial-digital-genital syndrome
...
U.S. National Library of Medicine
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National Institutes of Health

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66. Reference Page 2
a previously undefined multiple congenital anomalies/mental retardation (MCA/MR)syndrome which they designated the faciocutaneoskeletal (FCS) syndrome.
http://www.costellokids.co.uk/ref2.htm
Borochowitz et al. (1992) reported 5 unrelated patients, 1 male and 4 females, with a previously undefined multiple congenital anomalies/mental retardation (MCA/MR) syndrome which they designated the faciocutaneoskeletal (FCS) syndrome. The features included mental retardation with specific sociable, humorous behavior, characteristic facial appearance, generally excessive skin, postnatal growth failure, and skeletal abnormalities. Consanguinity was noted in 2 patients, suggesting autosomal recessive inheritance. Coarse facies, wide hirsute forehead, wide anteverted nostrils, and thick lips were pictured. Martin and Jones (1993), Der Kaloustian (1993), Teebi (1993), Philip and Mancini (1993), and Zampino et al. (1993) suggested that the FCS syndrome described by Borochowitz et al. (1992) is the same as the Costello syndrome. Borochowitz et al. (1993) concluded, on the other hand, that 'it is premature to reach a definite conclusion at this stage.' Patton and Baraitser (1993) reviewed 5 cases from their previous paper on cutis laxa (Patton et al., 1987) and concluded that the appropriate diagnosis was in fact Costello syndrome. Independently, Davies and Hughes (1994) reviewed case 7 from the same paper and, based on both history and clinical examination, made 'an unequivocal diagnosis of Costello syndrome.' In a longer report, Davies and Hughes (1994) described the development of one of the patients of Patton et al. (1987) for more than 10 years and again emphasized that Costello syndrome should be included in the differential diagnosis of cutis laxa in association with postnatal growth retardation and developmental delay. Fryns et al. (1994) described 2 unrelated patients with Costello syndrome, a 12-year-old girl and a 3.5-year-old boy. Severe postnatal growth retardation was the first clinical sign. Characteristic facial changes, loose and hyperelastic skin, and papillomata became progressively more evident with age. The patients presented a pleasant, happy nature and were mildly to moderately mentally retarded. Okamoto et al. (1994) reported the case of a Japanese patient. A fundoplication was performed at the age of 11 months to treat severe gastroesophageal reflux. The infant had congenital bilateral subluxation of the hips. At the age of 7 years, there was generalized pigmentation and acanthosis nigricans around the neck and axilla. Endocrinologic evaluation demonstrated partial deficiency of growth hormone. Stating that 16 cases had been reported, Torrelo et al. (1995) presented the case of a 15-year-old girl and emphasized the cutaneous manifestations of the disorder.

67. Health Topics
FacioFronto-Nasal Dysplasia, Facio-Scapulo-Humeral Dystrophy, Faciocutaneoskeletalsyndrome, Faciodigitogenital syndrome, Faciogenital Dysplasia,
http://www.peacehealth.org/kbase/list/ht/f.htm
Health Topics Click a letter to see a list of topics beginning with that letter. A B C D ... FU
FA Fabry Disease Face-lift (rhytidectomy) Facial Ectodermal Dysplasia Facial Injuries ... Familial Adenomatous Polyposis Top Familial Adenomatous Polyposis with Extraintestinal Manifestations Familial Alobar Holoprosencephaly Familial Alpha-Lipoprotein Deficiency Familial Atypical Mole-Malignant Melanoma Syndrome ... Familial Juvenile Hyperuricemic Nephropathy Top Familial Juvenile Hyperuricemic Nephropathy Familial Lichen Amyloidosis (Type IX) Familial Lipoprotein Lipase Deficiency Familial Multiple Polyposis ... Fanconi's Anemia, Type I (FA1) Top FAP FAPG Farber's Disease Farber's Lipogranulomatosis ... FAV
FC FCH FCMD FCS Syndrome
FD FD FDH
FE Fear (Anxiety) Febrile Mucocutaneous Syndrome Febrile Mucocutaneous Syndrome, Stevens Johnson Type Febrile Neutrophilic Dermatosis, Acute ... Feeding Your Child Top feeding, stop Feeling Depressed Feissinger-Leroy-Reiter Syndrome Felty Syndrome ... Fetal Hydantoin Syndrome Top Fetal Iritis Syndrome Fetal Retinoid Syndrome Fetal Transfusion Syndrome Fetal Valproate Syndrome ... Fever, Age 4 and Older
FF FFDD Type II
FG FG Syndrome FGDY FGN
FH FHS
FI Fiber Type Disproportion, Congenital

68. Developmental And Genetic Diseases
Facioauriculovertebral sequence ( Goldenhar syndrome 38 ) Faciocutaneoskeletalsyndrome ( Costello syndrome 8 ) Faciodigitogenital syndrome
http://www.gfmer.ch/genetic_diseases_v2/index.php?disinit=F

69. Index F: Contact A Family - For Families With Disabled Children: Information On
Facioauriculovertebral Spectrum see Goldenhar syndrome Faciocutaneoskeletalsyndrome see Costello syndrome Facioscapulohumeral Muscular Dystrophy
http://www.cafamily.org.uk/Idx/f.html
printer friendly home how we can help medical information ... how you can help Please use the index below to access the condition you require information on. It may take longer to find what you are looking for this way compared with our "search this site" facility in the navigator on the left but we try to point you in the most appropriate direction using this index and therefore the results should be better. For speed, this index has been split into separate alphabetical files: numbers 0-9 A B C ... Z Contact a Family also has information on many other specific conditions and rare disorders. If you cannot find the information you require in The Contact a Family Directory Online , you may wish to use our Contact a Family Helpline service. FAS see Fetal Alcohol Spectrum disorder
FCMD see Lissencephaly
FCS syndrome see Costello syndrome
FG syndrome

FJHN see
FOP see Fibrodysplasia Ossificans Progressiva
Fabry-Anderson disease see Fabry disease
Fabry disease

Facial Difference

Facial Disfigurement see Facial Difference
Facioauriculovertebral Spectrum see Goldenhar syndrome Faciocutaneoskeletal syndrome see Costello syndrome Facioscapulohumeral Muscular Dystrophy Facioscapuloperoneal Muscular Dystrophy see Facioscapulohumeral Muscular Dystrophy Factor V Leiden see Hereditary Thrombophilia Familial Combined Hyperlipidaemia see Familial Hyperlipidaemias Familial Dysautonomia Familial Haemorrhagic Telangiectasia see

70. %218040 COSTELLO SYNDROME
%218040 COSTELLO syndrome. Alternative Titles; symbols. FACIOCUTANEOSKELETALsyndrome FCS syndrome. Contents. TEXT. REFERENCES. CLINICAL SYNOPSIS
http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:218040] -e

71. Health/Conditions And Diseases/Genetic Disorders/Costello Syndrome -- The Doctor
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    75. All Topics
    FacioFronto-Nasal Dysplasia. Facio-Scapulo-Humeral Dystrophy. Faciocutaneoskeletalsyndrome. Faciodigitogenital syndrome. Faciogenital Dysplasia.
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    78. Costellon Oireyhtymä - Kehitysvammahuollon Tietopankki
    Borochowitz kumppaneineen (1992) kuvasi FCSoireyhtymän (faciocutaneoskeletalsyndrome). OMIM-tietokannan v. 2004 päivitetyn Costello-kirjoituksen mukaan
    http://www.saunalahti.fi/kup/syndroma/costello.htm
    Kehitysvammahuollon tietopankki
    Kehitysviive, karkeahkot kasvonpiirteet, nenän papillooma-kasvain, käsien ja jalkojen ihon velttous sekä lyhytkasvuisuus
    Costellon oireyhtymä
    CS
    Kasvo-, iho- ja luusto-oireiden yhtymä
    FCS-oireyhtymä
    Costellon oireyhtymää luonnehtii kasvu- ja psyykkisen kehityksen viivästyminen, karkeahkot kasvonpiirteet, nenän papillooma-kasvain, käsien ja jalkojen ihon velttous sekä muut epämuodostumat.
    Vammautuneen pää on isokokoinen ja fontanellit suuret tai viivästyneesti sulkeutuneet. Korvat ovat matalalle asettuneet ja korvalehdet ovat laajat. Silmien luomiraot ovat alaspäin vinot ja karsastus on tavanomaista, samoin silmäkulmien laskostuminen ja matalanenäisyys.
    Muita piirteitä voivat olla leveä suu, paksut huulet, suuri kieli, korkea suulaki, hammaskiilteen kehityshäiriö, lyhyt kaula, tynnyrimäinen rintakehä, vatsatyrä, kämmenien ja ja jalanpohjien sarveistuminen, kämmenen puoleiset luomet, lyhyet ja litteät sormet, kyynärluiden vinous, jalkojen virheasennot, syvät kämmenien ja jalanpohjien ihouurteet. Lisäksi Akilles-jänne saattaa olla tiukka, iho ylipigmentoitunut, taipeiden orvaskeden tummat paksuuntumat, käsissä ja jaloissa voi esiintyä ihopuutoksia, ohuet kynnet ovat syvälle asettuneet. Edelleen kasvojen yläosan karvaisuus sekä kiharainen, harva ja lyhyt tukka voivat kuulua oireistoon.
    Hermojärjestelmän ongelmia ovat aivojen surkastuminen ja hydrokefalia . Sydänlihassairaus, keuhkovaltimon ahtauma, sydänkammioiden väliseinämän aukko ja kohtauksittainen eteisvärinä kuuluvat niinikään oireisiin, samoin piilokivekset sekä lyhytkasvuisuus. Syntyessään lapset ovat yleensä normaalimittaisia.

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