Multiple malformation syndrome with facial-limb defects as major feature

Code	`23359005`
Semantic tag	disorder
Module	international
Definition	primitive
Effective time	20020131

125145000616p12.1p12.3 triplication syndrome disorder

122989100420q11.2 microdeletion syndrome disorder

12514520034q25 proximal deletion syndrome disorder

718576001Aase Smith type 1 syndrome disorder

720410001Acro-oto-ocular syndrome disorder

715951007Acrocallosal syndrome disorder

720417003Acrocephalopolydactyly disorder

720418008Acrocraniofacial dysostosis disorder

720419000Acrofacial dysostosis Catania type disorder

720427009Acrofacial dysostosis Kennedy Teebi type disorder

720429007Acrofacial dysostosis Palagonia type disorder

720430002Acrofacial dysostosis Rodriguez type disorder

720408003Acrofrontofacionasal dysostosis disorder

721835008Acrofrontofacionasal dysostosis type 2 disorder

720456009Acromegaloid facial appearance syndrome disorder

720414005Acrorenal mandibular syndrome disorder

720463009Adducted thumbs and arthrogryposis syndrome Christian type disorder

1351836007Alkuraya Kucinskas syndrome disorder

720979002Alopecia, contracture, dwarfism, intellectual disability syndrome disorder

720502000Arachnodactyly and intellectual disability with facial dysmorphism syndrome disorder

720501007Arachnodactyly with abnormal ossification and intellectual disability syndrome disorder

786039009Arthrogryposis and ectodermal dysplasia syndrome disorder

1229999001Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome disorder

715487005Autosomal recessive distal osteolysis syndrome disorder

725434009Autosomal recessive facio-digito-genital syndrome disorder

1230295000B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome disorder

717914000Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome disorder

720565000Bohring Opitz syndrome disorder

765761009Brachydactyly, mesomelia, intellectual disability, heart defect syndrome disorder

720573009Brachymorphism with onychodysplasia and dysphalangism syndrome disorder

720574003Brachytelephalangy, facial dysmorphism, Kallmann syndrome disorder

717943008Brain malformation, congenital heart disease, postaxial polydactyly syndrome disorder

717765001CLAPO syndrome disorder

720602007Camptodactyly syndrome Guadalajara type 1 disorder

1172633003Camptodactyly syndrome Guadalajara type 3 disorder

720600004Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome disorder

716238003Chitty Hall Baraitser syndrome disorder

232373003Choanal atresia with radial ray hypoplasia disorder

717771007Cloverleaf skull with multiple congenital anomalies syndrome disorder

15182000Coffin-Lowry syndrome disorder

1255322002Congenital contracture of limbs and face, hypotonia, developmental delay syndrome disorder

1172589000Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome disorder

732251003Cortical blindness, intellectual disability, polydactyly syndrome disorder

763665007Craniodigital syndrome and intellectual disability syndrome disorder

720754008Craniofacial conodysplasia syndrome disorder

702362004Craniofacial deafness hand syndrome disorder

725098001Craniomicromelic syndrome disorder

720817008Craniosynostosis Boston type disorder

725097006Crisponi syndrome disorder

721086004Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome disorder

763755009Dislocation of hip and facial dysmorphism syndrome disorder

722429003Distal limb deficiency with micrognathia syndrome disorder

733070005Duplication of eyebrow and syndactyly syndrome disorder

765204000Dyssegmental dysplasia Silverman Handmaker type disorder

39788007Ectrodactyly-ectodermal dysplasia-clefting syndrome disorder

773768000Emery Nelson syndrome disorder

723309006Endocrine-cerebro-osteodysplasia syndrome disorder

733032006Epilepsy telangiectasia syndrome disorder

766870005Epiphyseal dysplasia, hearing loss, dysmorphism syndrome disorder

1208342001Eye defects, arachnodactyly, cardiopathy syndrome disorder

49984004FG syndrome disorder

13280000Femoral hypoplasia - unusual facies syndrome disorder

720954000Filippi syndrome disorder

702432006Fryns syndrome disorder

719395001Hadziselimovic syndrome disorder

55821006Hay-Wells syndrome of ectodermal dysplasia disorder

726722009Hemifacial microsomia with radial defect syndrome disorder

732950006Ichthyosis, oral and digital anomalies syndrome disorder

770438007Infantile spasm and broad thumb syndrome disorder

763744009Intellectual disability, brachydactyly, Pierre Robin syndrome disorder

773416006Intellectual disability, facial dysmorphism, hand anomalies syndrome disorder

763742008Intellectual disability, polydactyly, uncombable hair syndrome disorder

771470001Jawad syndrome disorder

721874001Juberg Hayward syndrome disorder

1300133004KLHL7-related Bohring Opitz-like syndrome disorder

763774001Keipert syndrome disorder

724208006Keutel syndrome disorder

63387002Larsen syndrome disorder

719400000Lethal faciocardiomelic dysplasia disorder

60192008Lethal multiple pterygium syndrome disorder

1208985003Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies disorder

1251451005MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome disorder

1172685001Macrothrombocytopenia, lymphoedema, developmental delay, facial dysmorphism, camptodactyly syndrome disorder

1373746006Mandibuloacral dysplasia associated to MTX2 disorder

719377004Microcephalus with albinism and digital anomaly syndrome disorder

719378009Microcephalus with brachydactyly and kyphoscoliosis syndrome disorder

764732004Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome disorder

1187114007Micrognathia, recurrent infections, behavioural abnormalities, mild intellectual disability syndrome disorder

723405001Microlissencephaly micromelia syndrome disorder

40291001Mietens syndrome disorder

66038001Miller syndrome disorder

719843001Morava Mehes syndrome disorder

716868003Multicentric osteolysis nodulosis arthropathy spectrum disorder

768935003Multiple epiphyseal dysplasia Lowry type disorder

35520007Nager syndrome disorder

725908007Neurofaciodigitorenal syndrome disorder

723442008Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome disorder

38215007Oculodentodigital syndrome disorder

715484003Ophthalmomandibulomelic dysplasia disorder

52868006Oral-facial-digital syndrome disorder

89444000Oromandibular-limb hypogenesis spectrum disorder

1236843008PDE4D haploinsufficiency syndrome disorder

724069009Patterson Stevenson Fontaine syndrome disorder

719299009Pelviscapular dysplasia disorder

719140001Prieto Badia Mulas syndrome disorder

1187303004Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome disorder

715867000Pseudoaminopterin syndrome disorder

719256004Pterygium colli with intellectual disability and digital anomaly syndrome disorder

719258003Pyknoachondrogenesis disorder

721883006Radioulnar synostosis with developmental delay and hypotonia syndrome disorder

1172605003Retinitis pigmentosa, hearing loss, premature ageing, short stature, facial dysmorphism syndrome disorder

48718006Roberts-SC phocomelia syndrome disorder

770681000Robin sequence and oligodactyly syndrome disorder

76520005Robinow syndrome disorder

3073006Ruvalcaba syndrome disorder

723581006STAR syndrome disorder

721902002Schilbach Rott syndrome disorder

722002002Scholte syndrome disorder

716337006Seaver Cassidy syndrome disorder

1197591008Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome disorder

723998001Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome disorder

1237618009Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome disorder

773556006Short ulna, dysmorphism, hypotonia, intellectual disability syndrome disorder

733033001Spinocerebellar ataxia dysmorphism syndrome disorder

726724005Splenogonadal fusion, limb defect, micrognathia syndrome disorder

766821006Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome disorder

718765003Spondyloepiphyseal dysplasia Cantu type disorder

1269226006Spondylometaphyseal dysplasia, corneal dystrophy syndrome disorder

716233007Steinfeld syndrome disorder

1208998007TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome disorder

719946008Tel Hashomer camptodactyly syndrome disorder

733067006Telecanthus, hypertelorism, strabismus, pes cavus syndrome disorder

24750000Townes syndrome disorder

18077009Trichorhinophalangeal syndrome disorder

719948009Trigonocephaly with bifid nose and acral anomaly syndrome disorder

719949001Trigonocephaly with broad thumb syndrome disorder

717157006Trisomy 10p disorder

719840003Ulbright Hodes syndrome disorder

719823007Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome disorder

764697003Verloove Vanhorick Brubakk syndrome disorder

718909001X-linked intellectual disability Stevenson type disorder

719138006X-linked intellectual disability with cubitus valgus and dysmorphism syndrome disorder

719813003X-linked mandibulofacial dysostosis disorder

773307006Zechi Ceide syndrome disorder

Multiple malformation syndrome with facial-limb defects as major feature

Parents (3)

Children (144)