Médica y Molecular Instituto de Genética Univ Attre afe a...
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Reunión de afectados y familias con Atresia de Esófago 16 de Diciembre de 2017 Instituto de Genética Médica y Molecular Hospital Universitario La Paz – Madrid - Spain H o s p i t a l U n i v e r s i t ar i o L a P a z M a d r i d Instituto de Genética Médica y Molecular Jornadas At I Atresia afe tre de a E r Hospital de D o de G Univ Universitario ado a de La L a
Transcript of Médica y Molecular Instituto de Genética Univ Attre afe a...
Reunión de afectados y familias con Atresia de Esófago
16 de Diciembre de 2017Instituto de Genética Médica y Molecular
Hospital Universitario La Paz – Madrid - Spain
H o s p i t a l U n i v e r s i t a r i o L a P a z M a d r i d
Instituto de Genética Médica y Molecular
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Clasificación/tipos de AE
ATde
Causas Genéticas1- AE aisladas (como malformación
congénita única)
2- AE asociada a otras malformaciones/sindrómica
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AE aisladas (como malformacióncongénita única)única
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Causas Genéticas#206900 MICROPHTHALMIA, SYNDROMIC 3; MCOPS3
#164280 FEINGOLD SYNDROME 1; FGLDS1
%601346 MARTINEZ FRIAS SYNDROME
#226730 EPIDERMOLYSIS BULLOSA JUNCTIONALIS WITH PYLORIC ATRESIA
#214800 CHARGE SYNDROME
#300000 OPITZ GBBB SYNDROME, TYPE I; GBBB1
#615710 MITCHELL RILEY SYNDROME; MTCHRS
#145410 OPITZ GBBB SYNDROME, TYPE II; GBBB2
#610536 MANDIBULOFACIAL DYSOSTOSIS, GUION ALMEIDA TYPE; MFDGA
%192350 VATER/VACTERL ASSOCIATION
#615272 FANCONI ANEMIA, COMPLEMENTATION GROUP Q; FANCQ
#614083 FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL
#614526 CHROMOSOME 17q12 DUPLICATION SYNDROME
#250250 CARTILAGE HAIR HYPOPLASIA; CHH
#101200 APERT SYNDROME
%229850 FRYNS SYNDROME; FRNS
#207410 ANTLEY BIXLER SYNDROMEWITHOUT GENITAL ANOMALIES OR DISORDERED STEROIDOGENESIS; ABS2
#314390 VACTERL ASSOCIATION, X LINKED, WITH OR WITHOUT HYDROCEPHALUS; VACTERLX
#236700 MCKUSICK KAUFMAN SYNDROME; MKKS
#155310 VISCERAL MYOPATHY; VSCM
#305450 OPITZ KAVEGGIA SYNDROME; OKS
#305600 FOCAL DERMAL HYPOPLASIA; FDH
#305000 DYSKERATOSIS CONGENITA, X LINKED; DKCX
#610199 DIABETES MELLITUS, NEONATAL, WITH CONGENITAL HYPOTHYROIDISM; NDH
%164210 HEMIFACIAL MICROSOMIA; HFM
#601186 MICROPHTHALMIA, SYNDROMIC 9; MCOPS9
#224230 DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1
#300166 MICROPHTHALMIA, SYNDROMIC 2; MCOPS2
#610093 MICROPHTHALMIA, ISOLATED 2; MCOP2
608406 VATER LIKE DEFECTS WITH PULMONARY HYPERTENSION, LARYNGEAL WEBS, AND GROWTH DEFICIENCY
%221300 DEAFNESS, CONDUCTIVE, WITH MALFORMED EXTERNAL EAR
#154500 TREACHER COLLINS SYNDROME 1; TCS1
#305620 FRONTOMETAPHYSEAL DYSPLASIA 1; FMD1
611886 MESOMELIC DYSPLASIA, CAMERA TYPE
#300514 FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB
#614326 FEINGOLD SYNDROME 2; FGLDS2
#121050 ARTHROGRYPOSIS, DISTAL, TYPE 9; DA9
#612158 CARDIOMYOPATHY, DILATED, 1AA, WITH ORWITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA
#602849 MUENKE SYNDROME; MNKES
#269920 INFANTILE SIALIC ACID STORAGE DISEASE; ISSD
#123450 CRI DU CHAT SYNDROME
#130050 EHLERS DANLOS SYNDROME, TYPE IV, AUTOSOMAL DOMINANT
#227650 FANCONI ANEMIA, COMPLEMENTATION GROUP A; FANCA
#274000 THROMBOCYTOPENIA ABSENT RADIUS SYNDROME; TAR
%301590 MICROPHTHALMIA, SYNDROMIC 4; MCOPS4
#611038 MICROPHTHALMIA, ISOLATED 3; MCOP3
%251600 MICROPHTHALMIA, ISOLATED 1; MCOP1
#309800 MICROPHTHALMIA, SYNDROMIC 1; MCOPS1
#607932 MICROPHTHALMIA, SYNDROMIC 6; MCOPS6
#610125 MICROPHTHALMIA, SYNDROMIC 5; MCOPS5
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La
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