| children | - 16p12.1p12.3 triplication syndrome 1251450006
- 20q11.2 microdeletion syndrome 1229891004
- 4q25 proximal deletion syndrome 1251452003
- Aase Smith type 1 syndrome 718576001
- Acro-oto-ocular syndrome 720410001
- Acrocallosal syndrome 715951007
- Acrocephalopolydactyly 720417003
- Acrocraniofacial dysostosis 720418008
- Acrofacial dysostosis Catania type 720419000
- Acrofacial dysostosis Kennedy Teebi type 720427009
- Acrofacial dysostosis Palagonia type 720429007
- Acrofacial dysostosis Rodriguez type 720430002
- Acrofrontofacionasal dysostosis 720408003
- Acrofrontofacionasal dysostosis type 2 721835008
- Acromegaloid facial appearance syndrome 720456009
- Acrorenal mandibular syndrome 720414005
- Adducted thumbs and arthrogryposis syndrome Christian type 720463009
- Alopecia, contracture, dwarfism, intellectual disability syndrome 720979002
- Arachnodactyly and intellectual disability with facial dysmorphism syndrome 720502000
- Arachnodactyly with abnormal ossification and intellectual disability syndrome 720501007
- Arthrogryposis and ectodermal dysplasia syndrome 786039009
- Autosomal dominant myopia, midfacial retrusion, sensorineural hearing loss, rhizomelic dysplasia syndrome 1229999001
- Autosomal recessive distal osteolysis syndrome 715487005
- Autosomal recessive facio-digito-genital syndrome 725434009
- B-cell immunodeficiency, limb anomaly, urogenital malformation syndrome 1230295000
- Blepharophimosis, ptosis, esotropia, syndactyly, short stature syndrome 717914000
- Bohring Opitz syndrome 720565000
- Brachydactyly, mesomelia, intellectual disability, heart defect syndrome 765761009
- Brachymorphism with onychodysplasia and dysphalangism syndrome 720573009
- Brachytelephalangy, facial dysmorphism, Kallmann syndrome 720574003
- Brain malformation, congenital heart disease, postaxial polydactyly syndrome 717943008
- Camptodactyly syndrome Guadalajara type 1 720602007
- Camptodactyly syndrome Guadalajara type 3 1172633003
- Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia syndrome 720600004
- Chitty Hall Baraitser syndrome 716238003
- Choanal atresia with radial ray hypoplasia 232373003
- CLAPO syndrome 717765001
- Cloverleaf skull with multiple congenital anomalies syndrome 717771007
- Coffin-Lowry syndrome 15182000
- Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002
- Congenital omphalocele, diaphragmatic hernia, cardiovascular anomalies, radial ray defect syndrome 1172589000
- Cortical blindness, intellectual disability, polydactyly syndrome 732251003
- Craniodigital syndrome and intellectual disability syndrome 763665007
- Craniofacial conodysplasia syndrome 720754008
- Craniofacial deafness hand syndrome 702362004
- Craniomicromelic syndrome 725098001
- Craniosynostosis Boston type 720817008
- Crisponi syndrome 725097006
- Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome 721086004
- Dislocation of hip and facial dysmorphism syndrome 763755009
- Distal limb deficiency with micrognathia syndrome 722429003
- Duplication of eyebrow and syndactyly syndrome 733070005
- Dyssegmental dysplasia Silverman Handmaker type 765204000
- Ectrodactyly-ectodermal dysplasia-clefting syndrome 39788007
- Emery Nelson syndrome 773768000
- Endocrine-cerebro-osteodysplasia syndrome 723309006
- Epilepsy telangiectasia syndrome 733032006
- Epiphyseal dysplasia, hearing loss, dysmorphism syndrome 766870005
- Eye defects, arachnodactyly, cardiopathy syndrome 1208342001
- Femoral hypoplasia - unusual facies syndrome 13280000
- FG syndrome 49984004
- Filippi syndrome 720954000
- Fryns syndrome 702432006
- Hadziselimovic syndrome 719395001
- Hay-Wells syndrome of ectodermal dysplasia 55821006
- Hemifacial microsomia with radial defect syndrome 726722009
- Ichthyosis, oral and digital anomalies syndrome 732950006
- Infantile spasm and broad thumb syndrome 770438007
- Intellectual disability, brachydactyly, Pierre Robin syndrome 763744009
- Intellectual disability, facial dysmorphism, hand anomalies syndrome 773416006
- Intellectual disability, polydactyly, uncombable hair syndrome 763742008
- Jawad syndrome 771470001
- Juberg Hayward syndrome 721874001
- Keipert syndrome 763774001
- Keutel syndrome 724208006
- Larsen syndrome 63387002
- Lethal faciocardiomelic dysplasia 719400000
- Lethal multiple pterygium syndrome 60192008
- Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies 1208985003
- Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome 1172685001
- Microcephalus with albinism and digital anomaly syndrome 719377004
- Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009
- Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004
- Micrognathia, recurrent infections, behavioral abnormalities, mild intellectual disability syndrome 1187114007
- Microlissencephaly micromelia syndrome 723405001
- Mietens syndrome 40291001
- Miller syndrome 66038001
- Morava Mehes syndrome 719843001
- Multicentric osteolysis nodulosis arthropathy spectrum 716868003
- Multiple epiphyseal dysplasia Lowry type 768935003
- MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 1251451005
- Nager syndrome 35520007
- Neurofaciodigitorenal syndrome 725908007
- Non-eruption of teeth, maxillary hypoplasia, genu valgum syndrome 723442008
- Oculodentodigital syndrome 38215007
- Ophthalmomandibulomelic dysplasia 715484003
- Oral-facial-digital syndrome 52868006
- Oromandibular-limb hypogenesis spectrum 89444000
- Patterson Stevenson Fontaine syndrome 724069009
- PDE4D haploinsufficiency syndrome 1236843008
- Pelviscapular dysplasia 719299009
- Prieto Badia Mulas syndrome 719140001
- Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome 1187303004
- Pseudoaminopterin syndrome 715867000
- Pterygium colli with intellectual disability and digital anomaly syndrome 719256004
- Pyknoachondrogenesis 719258003
- Radioulnar synostosis with developmental delay and hypotonia syndrome 721883006
- Retinitis pigmentosa, hearing loss, premature aging, short stature, facial dysmorphism syndrome 1172605003
- Roberts-SC phocomelia syndrome 48718006
- Robin sequence and oligodactyly syndrome 770681000
- Robinow syndrome 76520005
- Ruvalcaba syndrome 3073006
- Schilbach Rott syndrome 721902002
- Scholte syndrome 722002002
- Seaver Cassidy syndrome 716337006
- Severe intellectual disability, hypotonia, strabismus, coarse face, planovalgus syndrome 1197591008
- Short stature, optic nerve atrophy, Pelger-Huët anomaly syndrome 1237618009
- Short stature, Pierre Robin sequence, cleft mandible, hand anomalies, clubfoot syndrome 723998001
- Short ulna, dysmorphism, hypotonia, intellectual disability syndrome 773556006
- Spinocerebellar ataxia dysmorphism syndrome 733033001
- Splenogonadal fusion, limb defect, micrognathia syndrome 726724005
- Spondyloepimetaphyseal dysplasia, short limb, abnormal calcification syndrome 766821006
- Spondyloepiphyseal dysplasia Cantu type 718765003
- Spondylometaphyseal dysplasia, corneal dystrophy syndrome 1269226006
- STAR syndrome 723581006
- Steinfeld syndrome 716233007
- Tel Hashomer camptodactyly syndrome 719946008
- Telecanthus, hypertelorism, strabismus, pes cavus syndrome 733067006
- Townes syndrome 24750000
- TRAF7-associated heart defect, digital anomalies, facial dysmorphism, motor and speech delay syndrome 1208998007
- Trichorhinophalangeal syndrome 18077009
- Trigonocephaly with bifid nose and acral anomaly syndrome 719948009
- Trigonocephaly with broad thumb syndrome 719949001
- Trisomy 10p 717157006
- Ulbright Hodes syndrome 719840003
- Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome 719823007
- Verloove Vanhorick Brubakk syndrome 764697003
- X-linked intellectual disability Stevenson type 718909001
- X-linked intellectual disability with cubitus valgus and dysmorphism syndrome 719138006
- X-linked mandibulofacial dysostosis 719813003
- Zechi Ceide syndrome 773307006
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