Arnold-Chiari sindrome di
Microcefalia isolata o sindromica
Agenesia cerebellare
Joubert sindrome di
Lissencefalia isolata o sindromica
Oloprosencefalia isolata o sindromica
Agenesia/disgenesia del corpo calloso in forma isolata o sindromica
Andermann sindrome di
Dandy-Walker sindrome di
Aase-Smith sindrome di
Neuroacantocitosi
Sindrome acrocallosa
Walker-Warburg sindrome di
Altre sindromi malformative congenite gravi ed invalidanti con prevalente alterazione del sistema nervoso
Ben Ari-Shuper-Mimouni sindrome di
Bonnemann-Meinecke sindrome di
Displasia cerebro-facio-toracica
Sindrome idroletale
TorielloC arey sindrome di
Gerstmann sindrome di
Lenz sindrome di
Sindrome anoftalmia plus
Foix-Chavany-Marie sindrome di
Axenfeld-Rieger anomalia di
Axenfeld-Rieger sindrome di
Peters anomalia di
Aniridia
Coloboma congenito oculare isolato o sindromico
Coloboma congenito corioretinico
Coloboma congenito dell’iride
Coloboma congenito del disco ottico
Morning glory anomalia di
Persistenza della membrana pupillare
Norrie malattia di
Vogt-Koyanagi-Harada sindrome di
Displasia setto-ottica
Fraser sindrome di
Weill-Marchesani sindrome di
Altre sindromi malformative congenite gravi ed invalidanti con prevalente interessamento
dell’apparato visivo
Aicardi sindrome di
Baraitser-Winter sindrome di
Nance-Horan sindrome di
Sindrome cerebrooculo-nasale
Sindrome CODAS
Sindromi con craniosinostosi
Acrocefalosindattilia
Apert sindrome di
C sindrome
Goodman sindrome di
Hallerman-Streiff sindrome di
Pierre-Robin sindrome di
Treacher-Collins sindrome di
Antley-Bixler sindrome di
Baller-Gerold sindrome di
Carpenter sindrome di
Pfeiffer sindrome di
Summitt sindrome di
Jackson-Weiss sindrome di
Nager sindrome di
Cranio-fronto-nasale sindrome
Craniosinostosi primaria
Crouzon malattia di
Disostosi cleidocranica
Disostosi mandibolofacciale
Disostosi maxillofacciale
Displasia frontofacionasale
Displasia mandibolo-acrale
Displasia maxillonasale
Palatoschisi isolata o sindromica
Mohr malattia di
Moebius sindrome di
Oculofaciocardiodentale sindrome
Oro-facio-digitale sindrome di tipo 1
Schinzel-Giedion sindrome di
Goldenhar sindrome di
Sindrome cefalopolisindattilia di Greig
Sindrome oto-palato-digitale
Focomelia
Deformità di Sprengel
Camptodattilia familiare
Poland sindrome di
Sindrome femoro-facciale
Sindromi con artrogriposi multiple congenite
Roberts sindrome di
Sindrome trisma pseudocamptodattilia
Freeman-Sheldon sindrome di
Sequenza da ipocinesia fetale
Sindrome da pterigi multipli
principale
Sindrome RAPADILINO
Sequenza sirenomelica
Adams-Oliver sindrome di
Sindrome trombocitopenica con aplasia del radio
Cuore criss-cross
Ebstein anomalia di
Sindrome del cuore sinistro ipoplasico
Blue rubber bleb nevus
Ivemark sindrome di
Klippel-Trenaunay sindrome di
Aneurisma della vena di Galeno
Malformazione arterovenosa cerebrale
Malformazione cavernosa cerebrale ereditaria
Malformazione cranica del seno durale
Sindrome CLOVE
Sindrome con malformazione dei capillari e malformazione arterovenosa (CMAVM)
Sindrome metamerica arterovenosa cerebrofacciale
Klippel-Feil sindrome di
Gastroschisi
Sindrome Prune Belly
Onfalocele
Pentalogia di Cantrell
Malformazione ano-rettale in forma isolata o sindromica
Hirschsprung malattia di
Goldberg-Shprintzen sindrome di
Atresia biliare
Caroli malattia di
Malattia del fegato policistico
Atresia ileale
Atresia colica
Atresia intestinale multipla
Cloaca persistente
Duplicazioni del tubo digerente
Complesso OEIS
Atresia esofagea e/o fistola – tracheoesofagea
Atresia del digiuno
Atresia o stenosi duodenale
Ipoplasia/Aplasia della muscolatura della parete gastrica
Microgastria
Sindrome dell’intestino corto congenito
Rene con midollare a spugna
Malattia renale cistica genetica
Senior-Loken sindrome di
Rene policistico autosomico recessivo
Meckel sindrome di
Estrofia vescicale
Gonadico e/o fenotipo
Disgenesia gonadica
Perrault sindrome di
Sindrome da insensibilità completa agli androgeni
Sindrome da insensibilità parziale agli androgeni
Pseudoermafroditismi
Denys Drash sindrome di
Ermafroditismo vero
cariotipo/sviluppo gonadico e/o fenotipo
Frasier sindrome di
Sindrome SERKAL
Afallia
Epispadia
Megalouretra
Mayer Rokitansky Kuster Hauser sindrome di
Acrodisostosi
Sindrome da regressione caudale
Acondrogenesi
Acondroplasia
Condrodisplasia letale
Condrodisplasia metafisaria
Condrodisplasia tipo Blomstrand
Condrodistrofia congenita non tipizzata
Desbuquois sindrome di
Displasia acromicrica
Displasia epifisaria emimelica
Displasia metatropica
Displasia otospondilomegaepifisaria
Displasia pseudoreumatoide progressiva
Distrofia toracica asfissiante
Encondromatosi multipla
Esostosi multipla
Ipocondroplasia
Keutel sindrome di
Kniest displasia
Larsen sindrome di
Schwartz-J ampel sindrome di
Sindrome camptomelica
Atelosteogenesi
Buschke-Ollendorff sindrome di
Conradi Hunermann Happle sindrome di
Discondrosteosi
Displasia craniometafisaria
Displasia diastrofica e pseudodiastrofica
Displasia fibrosa
Displasia gnatodiafisaria
Displasia spondiloepifisaria
Displasia spondilometafisaria
Ellis-van Creveld sindrome di
Engelmann malattia di
Fairbank malattia di
Frank-Ter Haar sindrome di
Hajdu Cheney sindrome di
Mc Cune Albright sindrome di
Osteodistrofia congenita non tipizzata
Osteogenesi imperfetta
Osteopetrosi
Picnodisostosi
Sindrome DOOR
Sindrome osteoporosi-pseudoganglioma
Maffucci sindrome di
Displasia spondiloepifisaria congenita
Dyggve Melchior Clausen (DMC ) sindrome di
Jarcho-Levin sindrome di
Sindromi da aneuploidia cromosomica
Turner sindrome di
Pallister-Killian sindrome di
Sindrome del Cri Du Chat
WAGR sindrome di
Williams sindrome di
Wolf-Hirschhorn sindrome di
Sindrome del cromosoma X fragile
Loeys-Dietz sindrome di
Shprintzen-Goldberg sindrome di
Marfan sindrome di
Ehlers Danlos sindrome di
Stickler sindrome di
Nanismo osteodisplastico microcefalico primitivo (MOPD)
Aarskog sindrome di
Dubowitz sindrome di
Robinow sindrome di
Russell Silver sindrome di
Seckel sindrome di
SHORT sindrome
Emiipertrofia congenita
Beckwith-Wiedemann sindrome di
Sotos sindrome di
Weaver sindrome di
Simpson-Golabi-Behmel sindrome di
Marshall-Smith sindrome di
sindromi note)
Alagille sindrome di
Alstrom sindrome di
Amartomatosi multiple
Bannayan-Zonana sindrome di
BirtHoggDubè sindrome di
Complesso di Von Meyenburg
Cowden malattia di
Sclerosi tuberosa
Peutz-J eghers sindrome di
Sturge-Weber sindrome di
Von Hippel-Lindau sindrome di
Sindrome proteus
Angelman sindrome di
Associazione VACTERL/VATER
Bardet-Biedl sindrome di
Bloom sindrome di
Borjeson-Forssman-Lehmann sindrome di
Char sindrome di
Coffin-Lowry sindrome di
Coffin-Siris sindrome di
Cohen sindrome di
Cornelia De Lange sindrome di
Costello sindrome di
Noonan sindrome di
Sindrome cardiofaciocutanea
Leopard sindrome
De Sanctis Cacchione malattia di
Displasia oculo-digito-dentale
Filippi sindrome di
Sindrome FG
Fine-Lubinsky sindrome di
Fryns sindrome di
Hermansky-Pudlak sindrome di
Holt-Oram sindrome di
LevyHollister sindrome di
Lowe sindrome di
Mainzer-Saldino sindrome di
Marshall sindrome di
Opitz sindrome di
Pallister-Hall sindrome di
Pallister-W sindrome di
Parry-Romberg sindrome di
Prader-Willi sindrome di
Rubinstein-Taybi sindrome di
Sindrome branchio-oculo-facciale
Sindrome branchio-oto-renale
Sindrome cardiofacciale di Cayler
Sindrome cerebrocostomandibolare
Sindrome cerebrooculo-facio-scheletrica
CHARGE associazione
Sindrome Kabuki
Sindrome megalocornea-ritardo mentale
Sindrome nail-patella
Sindrome oculo-cerebro-cutanea
Sindromi progeroidi
Hutchinson-Gilford sindrome di
Poichiloderma congenito
Wiedemann-Rautenstrauch sindrome di
Werner sindrome di
Cockayne sindrome di
Sindrome tricorino-falangea
Smith-Magenis sindrome di
Townes-Brocks sindrome di
Sindromi di Waardenburg
Waandenburg tipo 1 sindrome di
Waandenburg tipo 2 sindrome di
Waandenburg tipo 3 sindrome di
Wildervanck sindrome di
Winchester sindrome di
Wolfram sindrome di |
Arnold-Chiari syndrome
Isolated or syndromic microcephaly
Cerebellar agenesis
Joubert syndrome
Isolated or syndromic lissencephaly
Isolated or syndromic holoprosencephaly
Isolated or syndromic agenesis/dysgenesis of the corpus callosum
Andermann syndrome
Dandy-Walker syndrome
Aase-Smith syndrome
Neuroacanthocytosis
Acrocallosal syndrome
Walker-Warburg syndrome
Other severe and disabling congenital malformation syndromes with prevalent alteration of the nervous system
Ben Ari-Shuper-Mimouni syndrome
Bonnemann-Meinecke syndrome
Cerebrofaciothoracic dysplasia
Hydrolethal syndrome
TorielloC arey syndrome
Gerstmann syndrome
Lenz syndrome
Anophthalmia plus syndrome
Foix-Chavany-Marie syndrome
Axenfeld-Rieger anomaly of
Axenfeld-Rieger syndrome
Peters anomaly of
Aniridia
Isolated or syndromic congenital ocular coloboma
Congenital chorioretinal coloboma
Congenital coloboma of the iris
Congenital coloboma of the optic disc
Morning glory anomaly of
Persistence of the pupillary membrane
Norrie's disease
Vogt-Koyanagi-Harada syndrome
Septo-optic dysplasia
Fraser syndrome
Weill-Marchesani syndrome
Other severe and disabling congenital malformation syndromes with prevalent involvement
of the visual apparatus
Aicardi syndrome
Baraitser-Winter syndrome
Nance-Horan syndrome
Cerebrooculonasal syndrome
CODAS syndrome
Syndromes with craniosynostosis
Acrocephalosyndactyly
Open syndrome
C syndrome
Goodman syndrome
Hallerman-Streiff syndrome
Pierre-Robin syndrome
Treacher-Collins syndrome
Antley-Bixler syndrome
Baller-Gerold syndrome
Carpenter syndrome
Pfeiffer syndrome
Summitt syndrome
Jackson-Weiss syndrome
Nager syndrome
Craniofrontonasal syndrome
Primary craniosynostosis
Crouzon's disease
Cleidocranial dysostosis
Mandibulofacial dysostosis
Maxillofacial dysostosis
Frontofaceonasal dysplasia
Mandibulacral dysplasia
Maxillonasal dysplasia
Isolated or syndromic cleft palate
Mohr's disease
Moebius syndrome
Oculofaciocardiodental syndrome
Oro-facio-digitalis syndrome type 1
Schinzel-Giedion syndrome
Goldenhar syndrome
Greig's cephalopolysyndactyly syndrome
Oto-palato-digital syndrome
Phocomelia
Sprengel deformity
Familial camptodactyly
Poland syndrome
Femoral facial syndrome
Syndromes with congenital arthrogryposis multiplex
Roberts syndrome
Trismus pseudocamptodactyly syndrome
Freeman-Sheldon syndrome
Sequence from fetal hypokinesia
Multiple pterygia syndrome
principal
RAPADILINO syndrome
Sirenomela sequence
Adams-Oliver syndrome
Thrombocytopenic syndrome with radial aplasia
Criss cross heart
Ebstein anomaly of
Hypoplastic left heart syndrome
Blue rubber bleb nevus
Ivemark syndrome
Klippel-Trenaunay syndrome
Aneurysm of the vein of Galen
Cerebral arteriovenous malformation
Hereditary cerebral cavernous malformation
Cranial malformation of the dural sinus
CLOVE syndrome
Capillary malformation arteriovenous malformation syndrome (MAVM)
Cerebrofacial arteriovenous metameric syndrome
Klippel-Feil syndrome
Gastroschisis
Prune Belly Syndrome
Omphalocele
Cantrell pentalogy
Anorectal malformation in isolated or syndromic form
Hirschsprung's disease
Goldberg-Shprintzen syndrome
Biliary atresia
Caroli's disease
Polycystic liver disease
Ileal atresia
Colic atresia
Multiple intestinal atresia
Persistent cloaca
Duplications of the digestive tract
OEIS complex
Esophageal atresia and/or tracheoesophageal fistula
Fasting atresia
Atresia or duodenal stenosis
Hypoplasia/Aplasia of the muscles of the gastric wall
Microgastria
Congenital short bowel syndrome
Kidney with medullary sponge
Genetic cystic kidney disease (excluded: autosomal dominant polycystic kidney)
Senior-Loken syndrome
Autosomal recessive polycystic kidney disease
Meckel syndrome
Bladder exstrophy
Gonadal and/or phenotype
gonadal dysgenesis
Perrault syndrome
Complete androgen insensitivity syndrome
Partial androgen insensitivity syndrome
Pseudohermaphroditism
Denys Drash Syndrome
True hermaphroditism
karyotype/gonadal development and/or phenotype
Frasier syndrome
SERKAL syndrome
Afallia
Epispadias
Megalourethra
Mayer Rokitansky Kuster Hauser syndrome
Acrodysostosis
Caudal regression syndrome
Achondrogenesis
Achondroplasia
Lethal chondrodysplasia
Metaphyseal chondrodysplasia
Chondrodysplasia Blomstrand type
Untyped congenital chondrodystrophy
Desbuquois syndrome
Achromic dysplasia
Hemimelic epiphyseal dysplasia
Metatropic dysplasia
Otospondylomegaepiphyseal dysplasia
Progressive pseudorheumatoid dysplasia
Asphyxiating thoracic dystrophy
Multiple enchondromatosis
Multiple exostosis
Hypochondroplasia
Keutel syndrome
Kniest dysplasia
Larsen syndrome
Schwartz-J ampel syndrome
Camptomelic syndrome
Atelosteogenesis
Buschke-Ollendorff syndrome
Conradi Hunermann Happle syndrome
dyschondrosteosis
Craniometaphyseal dysplasia
Diastrophic and pseudodiastrophic dysplasia
Fibrous dysplasia
Gnathodiaphyseal dysplasia
Spondyloepiphyseal dysplasia
Spondylometaphyseal dysplasia
Ellis-van Creveld syndrome
Engelmann's disease
Fairbank's disease
Frank-Ter Haar Syndrome
Hajdu Cheney syndrome
McCune Albright Syndrome
Untyped congenital osteodystrophy
Osteogenesis imperfecta
Osteopetrosis
Pycnodysostosis
DOOR syndrome
Osteoporosis-pseudoganglioma syndrome
Maffucci syndrome
Congenital spondyloepiphyseal dysplasia
Dyggve Melchior Clausen (DMC ) syndrome
Jarcho-Levin syndrome
Chromosomal aneuploidy syndromes
Turner syndrome
Pallister-Killian syndrome
Cri Du Chat Syndrome
WAGR syndrome
Williams syndrome
Wolf-Hirschhorn syndrome
Fragile X chromosome syndrome
Loeys-Dietz syndrome
Shprintzen-Goldberg syndrome
Marfan syndrome
Ehlers Danlos Syndrome
Stickler syndrome
Primary microcephalic osteodysplastic dwarfism (MOPD)
Aarskog syndrome
Dubowitz syndrome
Robinow syndrome
Russell Silver Syndrome
Seckel syndrome
SHORT syndrome
Congenital hemihypertrophy
Beckwith-Wiedemann syndrome
Sotos syndrome
Weaver syndrome
Simpson-Golabi-Behmel syndrome
Marshall-Smith syndrome
known syndromes)
Alagille syndrome
Alstrom syndrome
Multiple hamartomatosis
Bannayan-Zonana syndrome
BirtHoggDub's syndrome
Von Meyenburg complex
Cowden's disease
Tuberous sclerosis
Peutz-J eghers syndrome
Sturge-Weber syndrome
Von Hippel-Lindau syndrome
Proteus syndrome
Angelman syndrome
VACTERL/VATER association
Bardet-Biedl syndrome
Bloom syndrome
Borjeson-Forssman-Lehmann syndrome
Char syndrome
Coffin-Lowry syndrome
Coffin-Siris syndrome
Cohen syndrome
Cornelia De Lange Syndrome
Costello syndrome
Noonan syndrome
Cardiofaciocutaneous syndrome
Leopard syndrome
De Sanctis Cacchione disease of
Oculo-digital-dental dysplasia
Philippi syndrome
FG syndrome
Fine-Lubinsky syndrome
Fryns syndrome
Hermansky-Pudlak syndrome
Holt-Oram syndrome
LevyHollister syndrome
Lowe syndrome
Mainzer-Saldino syndrome
Marshall syndrome
Opitz syndrome
Pallister-Hall syndrome
Pallister-W syndrome
Parry-Romberg syndrome
Prader-Willi syndrome
Rubinstein-Taybi syndrome
Branchio-oculo-facial syndrome
Branchio-oto-renal syndrome
Cayler's cardiofacial syndrome
Cerebrocostomandibular syndrome
Cerebrooculofacioskeletal syndrome
CHARGE association
Kabuki syndrome
Megalocornea-mental retardation syndrome
Nail-patella syndrome
Oculocerebrocutaneous syndrome
Progeroid syndromes
Hutchinson-Gilford syndrome
Congenital poikiloderma
Wiedemann-Rautenstrauch syndrome
Werner syndrome
Cockayne syndrome
Trichorinophalangeal syndrome
Smith-Magenis syndrome
Townes-Brocks syndrome
Waardenburg syndromes
Waandenburg type 1 syndrome
Waandenburg type 2 syndrome
Waandenburg type 3 syndrome
Wildervanck syndrome
Winchester syndrome
Wolfram syndrome |
