Developmental defect during embryogenesis

Part of

Sub-types of Developmental defect during embryogenesis

• Developmental anomaly of metabolic origin 0 trials · 384 incl. sub-types
  57 sub-types

  • Inborn mitochondrial metabolism disorder 59 trials · 127 incl. sub-types Sub-types →
  • Fabry disease 64 trials
  • Mucopolysaccharidosis 14 trials · 62 incl. sub-types Sub-types →
  • Sterol biosynthesis disorder 0 trials · 45 incl. sub-types Sub-types →
  • Fanconi anemia 29 trials · 42 incl. sub-types Sub-types →
  • Hypophosphatasia 13 trials Sub-types →
  • Oligosaccharidosis 0 trials · 11 incl. sub-types Sub-types →
  • Pseudohypoparathyroidism 8 trials · 9 incl. sub-types Sub-types →
  • Zellweger spectrum disorders 6 trials · 7 incl. sub-types Sub-types →
  • Cockayne syndrome 6 trials Sub-types →
  • Creatine transporter deficiency 6 trials
  • Mucolipidosis 4 trials · 5 incl. sub-types Sub-types →
  • Classic homocystinuria 4 trials
  • Mucosulfatidosis 4 trials
  • 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency 2 trials
  • AICA-ribosiduria 1 trial
  • Nijmegen breakage syndrome 1 trial
  • SLC35A2-congenital disorder of glycosylation 1 trial
  • Arthrogryposis-renal dysfunction-cholestasis syndrome 1 trial Sub-types →
  • Encephalopathy due to sulfite oxidase deficiency 0 trials · 1 incl. sub-types Sub-types →
  • Occipital horn syndrome 1 trial
  • ALDH18A1-related de Barsy syndrome 0 trials
  • Al-Gazali syndrome 0 trials
  • B4GALT1-congenital disorder of glycosylation 0 trials
  • CADDS 0 trials
  • CHIME syndrome 0 trials
  • COG1-congenital disorder of glycosylation 0 trials
  • COG7-congenital disorder of glycosylation 0 trials
  • Ehlers-Danlos syndrome, musculocontractural type 0 trials Sub-types →
  • Ehlers-Danlos syndrome, spondylodysplastic type 0 trials Sub-types →
  • Larsen-like syndrome, B3GAT3 type 0 trials
  • MGAT2-congenital disorder of glycosylation 0 trials
  • Neu-Laxova syndrome 0 trials Sub-types →
  • Nijmegen breakage syndrome-like disorder 0 trials
  • Peters plus syndrome 0 trials
  • RFT1-congenital disorder of glycosylation 0 trials
  • SHORT syndrome 0 trials
  • SLC39A8-CDG 0 trials
  • SSR4-congenital disorder of glycosylation 0 trials
  • Wiedemann-Rautenstrauch syndrome 0 trials
  • XYLT1-congenital disorder of glycosylation 0 trials
  • Autism spectrum disorder - epilepsy - arthrogryposis syndrome 0 trials
  • Autosomal recessive cutis laxa type 2 0 trials Sub-types →
  • Cutis laxa, autosomal dominant 3 0 trials
  • Developmental and epileptic encephalopathy, 77 0 trials
  • Glycosylphosphatidylinositol biosynthesis defect 15 0 trials
  • Hyperphosphatasia-intellectual disability syndrome 0 trials Sub-types →
  • Mandibuloacral dysplasia 0 trials Sub-types →
  • Mucopolysaccharidosis-plus syndrome 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 1 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 2 0 trials
  • Multiple congenital anomalies-hypotonia-seizures syndrome 3 0 trials
  • Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 0 trials
  • Pontocerebellar hypoplasia type 1 0 trials Sub-types →
  • Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN 0 trials
  • Temtamy preaxial brachydactyly syndrome 0 trials
  • Transketolase deficiency 0 trials
• Multiple congenital anomalies/dysmorphic syndrome 1 trial · 289 incl. sub-types
  5 sub-types

  • Multiple congenital anomalies/dysmorphic syndrome without intellectual disability 0 trials · 163 incl. sub-types Sub-types →
  • Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome 0 trials · 91 incl. sub-types Sub-types →
  • Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 1 trial · 59 incl. sub-types Sub-types →
  • Multiple congenital anomalies due to 14q32.2 imprinting defect 0 trials · 2 incl. sub-types Sub-types →
  • NR2F2 related multiple congenital anomalies/dysmorphic syndrome 0 trials
• Neurofibromatosis type 1 73 trials
  3 sub-types

  • Chromosome 17q11.2 deletion syndrome, 1.4Mb 0 trials
  • Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion 0 trials
  • Neurofibromatosis, familial spinal 0 trials
• Congenital limb malformation 3 trials · 61 incl. sub-types
  107 sub-types

  • Familial clubfoot with or without associated lower limb anomalies 0 trials · 18 incl. sub-types Sub-types →
  • Acrocephalosyndactyly 0 trials · 13 incl. sub-types Sub-types →
  • Arthrogryposis syndrome 0 trials · 8 incl. sub-types Sub-types →
  • Cornelia de Lange syndrome 4 trials · 5 incl. sub-types Sub-types →
  • Rubinstein-Taybi syndrome 3 trials Sub-types →
  • Poland syndrome 2 trials
  • Extensor tendons of finger anomalies 2 trials
  • 2q37 microdeletion syndrome 1 trial
  • Duane-radial ray syndrome 1 trial Sub-types →
  • EEC syndrome 1 trial Sub-types →
  • Acrofacial dysostosis 0 trials · 1 incl. sub-types Sub-types →
  • Femur-fibula-ulna complex 1 trial
  • Laurin-Sandrow syndrome 1 trial
  • Proximal symphalangism 1 trial Sub-types →
  • Thalidomide embryopathy 1 trial
  • Thrombocytopenia-absent radius syndrome 1 trial
  • ADULT syndrome 0 trials
  • Adams-Oliver syndrome 0 trials Sub-types →
  • Al-Gazali syndrome 0 trials
  • Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome 0 trials
  • Brachymorphism-onychodysplasia-dysphalangism syndrome 0 trials
  • Cenani-Lenz syndactyly syndrome 0 trials
  • Cooks syndrome 0 trials
  • EEM syndrome 0 trials
  • Emery-Nelson syndrome 0 trials
  • Fuhrmann syndrome 0 trials
  • Gollop-Wolfgang complex 0 trials
  • Hypoglossia-hypodactyly syndrome 0 trials
  • IVIC syndrome 0 trials
  • Karsch-Neugebauer syndrome 0 trials
  • Keutel syndrome 0 trials
  • Leri pleonosteosis 0 trials
  • Mononen-Karnes-Senac syndrome 0 trials
  • OSLAM syndrome 0 trials
  • Say-field-Coldwell syndrome 0 trials
  • Sugarman brachydactyly 0 trials
  • TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
  • Townes-Brocks syndrome 0 trials Sub-types →
  • Absence deformity of leg-cataract syndrome 0 trials
  • Absent radius-anogenital anomalies syndrome 0 trials
  • Absent tibia-polydactyly-arachnoid cyst syndrome 0 trials
  • Acromesomelic dysplasia 2B 0 trials
  • Acropectoral syndrome 0 trials
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 0 trials Sub-types →
  • Aphalangy-syndactyly-microcephaly syndrome 0 trials
  • Autosomal recessive amelia 0 trials
  • Brachydactyly-arterial hypertension syndrome 0 trials
  • Brachydactyly-preaxial hallux varus syndrome 0 trials
  • Brachytelephalangy-dysmorphism-Kallmann syndrome 0 trials
  • Camptodactyly syndrome, Guadalajara type 2 0 trials
  • Camptodactyly-taurinuria syndrome 0 trials
  • Caudal regression-sirenomelia spectrum 0 trials Sub-types →
  • Cocoon syndrome 0 trials
  • Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 0 trials
  • Crossed polysyndactyly 0 trials
  • Ectrodactyly-polydactyly syndrome 0 trials
  • Familial digital arthropathy-brachydactyly 0 trials
  • Femoral-facial syndrome 0 trials
  • Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome 0 trials
  • Fibular aplasia-ectrodactyly syndrome 0 trials
  • Fibular dimelia-diplopodia syndrome 0 trials
  • Hallux varus-preaxial polysyndactyly syndrome 0 trials
  • Hand-foot-genital syndrome 0 trials
  • Heart-hand syndrome 0 trials Sub-types →
  • Hereditary thrombocytosis with transverse limb defect 0 trials
  • Humerus trochlea aplasia 0 trials
  • Hyperphosphatasia-intellectual disability syndrome 0 trials Sub-types →
  • Intellectual disability-brachydactyly-Pierre Robin syndrome 0 trials
  • Intellectual disability-spasticity-ectrodactyly syndrome 0 trials
  • Lethal faciocardiomelic dysplasia 0 trials
  • Limb transversal defect-cardiac anomaly syndrome 0 trials
  • Mammary-digital-nail syndrome 0 trials
  • Microcephaly-brachydactyly-kyphoscoliosis syndrome 0 trials
  • Multiple synostoses syndrome 0 trials Sub-types →
  • Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome 0 trials
  • Pelvis-shoulder dysplasia 0 trials
  • Pelviscapular dysplasia 0 trials
  • Phocomelia, Schinzel type 0 trials
  • Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome 0 trials
  • Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 0 trials
  • Postaxial tetramelic oligodactyly 0 trials
  • Radial deficiency-tibial hypoplasia syndrome 0 trials
  • Radio-renal syndrome 0 trials
  • Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 0 trials Sub-types →
  • Radioulnar synostosis-developmental delay-hypotonia syndrome 0 trials
  • Rapadilino syndrome 0 trials
  • Scalp defects-postaxial polydactyly syndrome 0 trials
  • Shoulder and thorax deformity-congenital heart disease syndrome 0 trials
  • Skeletal dysplasia-epilepsy-short stature syndrome 0 trials
  • Splenogonadal fusion-limb defects-micrognathia syndrome 0 trials
  • Split hand-foot malformation 1 with sensorineural hearing loss 0 trials
  • Split-foot malformation-mesoaxial polydactyly syndrome 0 trials
  • Symphalangism with multiple anomalies of hands and feet 0 trials
  • Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome 0 trials
  • Syndactyly-telecanthus-anogenital and renal malformations syndrome 0 trials
  • Tarsal-carpal coalition syndrome 0 trials
  • Temtamy preaxial brachydactyly syndrome 0 trials
  • Tetraamelia-multiple malformations syndrome 0 trials Sub-types →
  • Tetramelic monodactyly 0 trials
  • Thumb stiffness-brachydactyly-intellectual disability syndrome 0 trials
  • Tibia, hypoplasia or aplasia of, with polydactyly 0 trials
  • Tibial aplasia-ectrodactyly syndrome 0 trials Sub-types →
  • Triphalangeal thumb-polysyndactyly syndrome 0 trials
  • Triphalangeal thumbs-brachyectrodactyly syndrome 0 trials
  • Ulna hypoplasia-intellectual disability syndrome 0 trials
  • Ulnar hypoplasia-split foot syndrome 0 trials
  • Ulnar/fibula ray defect-brachydactyly syndrome 0 trials
• Disorder of sexual differentiation 9 trials · 55 incl. sub-types
  7 sub-types

  • Sex chromosome disorder of sex development 2 trials · 34 incl. sub-types Sub-types →
  • 46,XY disorder of sex development 3 trials · 10 incl. sub-types Sub-types →
  • Gynecomastia disorder 6 trials · 8 incl. sub-types Sub-types →
  • 46,XX ovotesticular disorder of sex development 1 trial
  • Indeterminate sex and/or pseudohermaphroditism 1 trial Sub-types →
  • 46,XX disorder of sex development 0 trials Sub-types →
  • True hermaphroditism 0 trials
• Central nervous system malformation 5 trials · 51 incl. sub-types
  54 sub-types

  • Neural tube defect 12 trials · 23 incl. sub-types Sub-types →
  • Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes 0 trials · 10 incl. sub-types Sub-types →
  • Hoyeraal-Hreidarsson syndrome 3 trials
  • Pontocerebellar hypoplasia 1 trial · 3 incl. sub-types Sub-types →
  • Lhermitte-Duclos disease 2 trials
  • PHACE syndrome 2 trials
  • Joubert syndrome with oculorenal defect 1 trial Sub-types →
  • Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 1 trial
  • Cystic malformation of the posterior fossa 0 trials · 1 incl. sub-types Sub-types →
  • Syndromic X-linked intellectual disability 5 1 trial
  • Aase-Smith syndrome 0 trials
  • B4GALT1-congenital disorder of glycosylation 0 trials
  • Dandy-Walker malformation-postaxial polydactyly syndrome 0 trials
  • Gomez-Lopez-Hernandez syndrome 0 trials
  • Joubert syndrome with ocular defect 0 trials Sub-types →
  • NPHP3-related Meckel-like syndrome 0 trials
  • Ritscher-Schinzel syndrome 0 trials Sub-types →
  • SLC39A8-CDG 0 trials
  • TELO2-related intellectual disability-neurodevelopmental disorder 0 trials
  • X-linked cerebral-cerebellar-coloboma syndrome syndrome 0 trials
  • X-linked intellectual disability-cerebellar hypoplasia syndrome 0 trials
  • X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 0 trials
  • Aprosencephaly cerebellar dysgenesis 0 trials
  • Arachnoid cyst 0 trials Sub-types →
  • Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome 0 trials
  • Autosomal recessive spinocerebellar ataxia 20 0 trials
  • Cerebellar-facial-dental syndrome 0 trials
  • Cerebral gigantism-jaw cysts syndrome 0 trials
  • Cervical hypertrichosis-peripheral neuropathy syndrome 0 trials
  • Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 0 trials
  • Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 0 trials
  • Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 0 trials
  • Glioependymal/ependymal cyst 0 trials
  • Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 0 trials
  • Hereditary cerebral malformation 0 trials
  • Holoprosencephaly-caudal dysgenesis syndrome 0 trials
  • Holoprosencephaly-hypokinesia-congenital contractures syndrome 0 trials
  • Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism 0 trials
  • Isolated arhinencephaly 0 trials
  • Isolated bilateral hemispheric cerebellar hypoplasia 0 trials
  • Isolated cerebellar vermis agenesis 0 trials Sub-types →
  • Isolated cerebellar vermis hypoplasia 0 trials
  • Isolated unilateral hemispheric cerebellar hypoplasia 0 trials
  • Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 0 trials
  • Macrocephaly-short stature-paraplegia syndrome 0 trials
  • Orofaciodigital syndrome type 6 0 trials
  • Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 0 trials
  • Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 0 trials
  • Pontine tegmental cap dysplasia 0 trials
  • Rhombencephalosynapsis 0 trials
  • Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 0 trials
  • Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome 0 trials
  • Syndromic X-linked intellectual disability Najm type 0 trials
  • Tubulinopathy-associated dysgyria 0 trials
• Ehlers-Danlos syndrome 20 trials · 46 incl. sub-types
  25 sub-types

  • Ehlers-Danlos syndrome, hypermobility type 15 trials
  • Joint laxity, familial 14 trials
  • Ehlers-Danlos syndrome, vascular type 6 trials Sub-types →
  • Bethlem myopathy 2 0 trials
  • COL1A1-related Ehlers-Danlos syndrome 0 trials Sub-types →
  • COL1A2-related Ehlers-Danlos syndrome 0 trials Sub-types →
  • Ehlers-Danlos syndrome due to tenascin-X deficiency 0 trials
  • Ehlers-Danlos syndrome, Beasley-Cohen type 0 trials
  • Ehlers-Danlos syndrome, arthrochalasia type 0 trials Sub-types →
  • Ehlers-Danlos syndrome, autosomal dominant, type unspecified 0 trials
  • Ehlers-Danlos syndrome, classic type 0 trials Sub-types →
  • Ehlers-Danlos syndrome, classic-like, 2 0 trials
  • Ehlers-Danlos syndrome, classic-like, 3 0 trials
  • Ehlers-Danlos syndrome, dermatosparaxis type 0 trials
  • Ehlers-Danlos syndrome, fibronectinemic type 0 trials
  • Ehlers-Danlos syndrome, kyphoscoliotic type 1 0 trials
  • Ehlers-Danlos syndrome, kyphoscoliotic type, 2 0 trials
  • Ehlers-Danlos syndrome, musculocontractural type 0 trials Sub-types →
  • Ehlers-Danlos syndrome, periodontitis type 0 trials Sub-types →
  • Ehlers-Danlos syndrome, spondylodysplastic type 0 trials Sub-types →
  • Ehlers-Danlos syndrome, vascular-like type 0 trials
  • Ehlers-Danlos/osteogenesis imperfecta syndrome 0 trials Sub-types →
  • X-linked Ehlers-Danlos syndrome 0 trials
  • Brittle cornea syndrome 0 trials Sub-types →
  • Spondylodysplastic Ehlers-Danlos syndrome 0 trials
• Cutis laxa 37 trials · 39 incl. sub-types
  2 sub-types

  • Inherited cutis laxa 0 trials · 2 incl. sub-types Sub-types →
  • Acquired cutis laxa 0 trials
• Cleft palate 34 trials · 35 incl. sub-types
  9 sub-types

  • Isolated cleft palate 3 trials Sub-types →
  • Submucosal cleft palate 1 trial
  • Kuster syndrome 0 trials
  • Rapp-Hodgkin syndrome 0 trials
  • Bifid uvula 0 trials
  • Cleft hard palate 0 trials
  • Cleft palate with or without ankyloglossia, X-linked 0 trials
  • Cleft soft palate 0 trials
  • Soft and hard cleft palate 0 trials
• Hereditary hemorrhagic telangiectasia 34 trials
  5 sub-types

  • Telangiectasia, hereditary hemorrhagic, type 1 4 trials
  • Hereditary hemorrhagic telangiectasia type 3 0 trials
  • Hereditary hemorrhagic telangiectasia type 4 0 trials
  • Telangiectasia, hereditary hemorrhagic, type 2 0 trials
  • Telangiectasia, hereditary hemorrhagic, type 5 0 trials
• Infectious embryofetopathy 2 trials · 25 incl. sub-types
  10 sub-types

  • Congenital herpes virus infection 0 trials · 15 incl. sub-types Sub-types →
  • Congenital syphilis 7 trials Sub-types →
  • Congenital toxoplasmosis 2 trials
  • Congenital Epstein-Barr virus infection 0 trials
  • Congenital enterovirus infection 0 trials
  • Congenital rubella syndrome 0 trials
  • Congenital varicella syndrome 0 trials
  • Fetal enterovirus syndrome 0 trials
  • Fetal parainfluenza virus type 3 syndrome 0 trials
  • Fetal parvovirus syndrome 0 trials
• Toxic or drug-related embryofetopathy 2 trials · 21 incl. sub-types
  22 sub-types

  • Fetal alcohol syndrome 17 trials
  • Fetal trimethadione syndrome 0 trials · 1 incl. sub-types Sub-types →
  • Thalidomide embryopathy 1 trial
  • Acitretin/etretinate embryopathy 0 trials
  • Aminopterin/methotrexate embryofetopathy 0 trials
  • Cocaine embryofetopathy 0 trials
  • Diethylstilbestrol syndrome 0 trials
  • Fetal carbamazepine syndrome 0 trials
  • Fetal hydantoin syndrome 0 trials
  • Fetal iodine syndrome 0 trials
  • Fetal methylmercury syndrome 0 trials
  • Fetal minoxidil syndrome 0 trials
  • Fetal phenothiazine syndrome 0 trials
  • Fetal valproate syndrome 0 trials
  • Indomethacin embryofetopathy 0 trials
  • Isotretinoin syndrome 0 trials
  • Methimazole embryofetopathy 0 trials
  • Mycophenolate mofetil embryopathy 0 trials
  • Phenobarbital embryopathy 0 trials
  • Propylthiouracil embryofetopathy 0 trials
  • Toluene embryopathy 0 trials
  • Vitamin K-antagonist embryofetopathy 0 trials
• Abdominal wall malformation 6 trials · 17 incl. sub-types
  4 sub-types

  • Gastroschisis 11 trials Sub-types →
  • Omphalocele 3 trials Sub-types →
  • Body-stalk anomaly 0 trials
  • Omphalomesenteric cyst 0 trials
• Congenital anomaly of kidney and urinary tract 7 trials · 14 incl. sub-types
  3 sub-types

  • Congenital anomalies of kidney and urinary tract 2 9 trials
  • Congenital anomalies of kidney and urinary tract 1 1 trial
  • Congenital anomalies of kidney and urinary tract 3 0 trials
• Progeroid syndrome 3 trials · 11 incl. sub-types
  16 sub-types

  • Cockayne syndrome 6 trials Sub-types →
  • Hutchinson-Gilford progeria syndrome 3 trials
  • Werner syndrome 2 trials
  • Fischer-Zirnsak progeroid syndrome 0 trials
  • Fontaine progeroid syndrome 0 trials
  • Garg-Mishra progeroid syndrome 0 trials
  • Marbach-Rustad progeroid syndrome 0 trials
  • Nestor-Guillermo progeria syndrome 0 trials
  • RECON progeroid syndrome 0 trials
  • Wiedemann-Rautenstrauch syndrome 0 trials
  • XFE progeroid syndrome 0 trials
  • Achalasia-progeroid syndrome 0 trials
  • Mandibular hypoplasia-deafness-progeroid syndrome 0 trials
  • Mandibuloacral dysplasia progeroid syndrome 0 trials
  • Progeroid and marfanoid aspect-lipodystrophy syndrome 0 trials
  • Progeroid facial appearance with hand anomalies 0 trials
• Microtia 8 trials
  1 sub-type

  • Ear without helix 0 trials
• PTEN hamartoma tumor syndrome 6 trials · 8 incl. sub-types
  4 sub-types

  • Proteus syndrome 2 trials
  • Bannayan-Riley-Ruvalcaba syndrome 1 trial
  • Proteus-like syndrome 0 trials
  • Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 0 trials
• Urogenital tract malformation 0 trials · 8 incl. sub-types
  3 sub-types

  • Fetal lower urinary tract obstruction 0 trials · 6 incl. sub-types Sub-types →
  • Exstrophy-epispadias complex 1 trial · 3 incl. sub-types Sub-types →
  • Isolated persistent urogenital sinus 0 trials
• Hydrops fetalis 3 trials · 7 incl. sub-types
  2 sub-types

  • Non-immune hydrops fetalis 3 trials · 6 incl. sub-types Sub-types →
  • Immune hydrops fetalis 0 trials
• Angioosteohypertrophic syndrome 6 trials
• Legius syndrome 5 trials
• Nevoid basal cell carcinoma syndrome 5 trials
  2 sub-types

  • Basal cell nevus syndrome 1 0 trials
  • Basal cell nevus syndrome 2 0 trials
• Schwannomatosis 3 trials
  4 sub-types

  • 22q-related schwannomatosis 0 trials
  • LZTR1-related schwannomatosis 0 trials
  • SMARCB1-related schwannomatosis 0 trials
  • Neurofibromatosis, type III, mixed central and peripheral 0 trials
• Cysts and fistulae of the face and oral cavity 0 trials · 3 incl. sub-types
  13 sub-types

  • Familial thyroglossal duct cyst 2 trials
  • First branchial cleft anomaly 1 trial
  • Second branchial cleft anomaly 1 trial
  • Cervical dermoid cyst 0 trials
  • Cervicofacial fibrochondroma 0 trials
  • Commissural lip fistula 0 trials
  • Digestive duplication cyst of the tongue 0 trials
  • Facial dermoid cyst 0 trials Sub-types →
  • Fourth branchial cleft anomaly 0 trials
  • Lower lip fistula 0 trials
  • Nasal dorsum fistula/cyst 0 trials
  • Pinnae fistula or cyst 0 trials
  • Third branchial cleft anomaly 0 trials
• Maffucci syndrome 2 trials
• Neurofibromatosis-Noonan syndrome 2 trials
  1 sub-type

  • Watson syndrome 0 trials
• Facial cleft 0 trials · 2 incl. sub-types
  9 sub-types

  • Bifid nose 0 trials · 1 incl. sub-types Sub-types →
  • Commissural facial cleft 1 trial
  • Tessier number 5 facial cleft 0 trials
  • Tessier number 6 facial cleft 0 trials
  • Coloboma of inferior eyelid 0 trials
  • Coloboma of superior eyelid 0 trials
  • Median cleft lip/mandibule 0 trials
  • Median cleft of the upper lip and maxilla 0 trials
  • Midline cervical cleft 0 trials
• Anotia 1 trial
• Diaphragmatic malformation 1 trial
• Focal dermal hypoplasia 1 trial
• Linear nevus sebaceous syndrome 1 trial
• Macroglossia 1 trial
  1 sub-type

  • Congenital macroglossia 0 trials
• Becker nevus syndrome 0 trials
  1 sub-type

  • Linear and whorled nevoid hypermelanosis 0 trials
• Desbuquois dysplasia 0 trials
  2 sub-types

  • Desbuquois dysplasia 1 0 trials
  • Desbuquois dysplasia 2 0 trials
• Larsen syndrome 0 trials
• TP63-related ectodermal dysplasia spectrum with limb and orofacial malformations 0 trials
  5 sub-types

  • ADULT syndrome 0 trials
  • Rapp-Hodgkin syndrome 0 trials
  • Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 0 trials Sub-types →
  • Ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 0 trials
  • Split hand-foot malformation 4 0 trials
• X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome 0 trials
• Ankyloblepharon filiforme-imperforate anus syndrome 0 trials
• Blindness - scoliosis - arachnodactyly syndrome 0 trials
• Bone fragility with contractures, arterial rupture, and deafness 0 trials
• Conjoined twins 0 trials
• Cutis laxa - Marfanoid syndrome 0 trials
• Hemihyperplasia-multiple lipomatosis syndrome 0 trials
• Hereditary neurocutaneous angioma 0 trials
• Joint laxity, short stature, and myopia 0 trials
• Lethal Larsen-like syndrome 0 trials
• Marfanoid habitus-inguinal hernia-advanced bone age syndrome 0 trials
• Middle ear anomaly 0 trials
  3 sub-types

  • Cochleovestibular dysplasia 0 trials
  • Isolated congenital auditory ossicle malformation 0 trials
  • Isolated congenital cholesteatoma of the middle ear 0 trials
• Phakomatosis pigmentokeratotica 0 trials
• Phakomatosis pigmentovascularis 0 trials
  3 sub-types

  • Phakomatosis cesioflammea 0 trials
  • Phakomatosis cesiomarmorata 0 trials
  • Phakomatosis spilorosea 0 trials
• Port-wine nevi-mega cisterna magna-hydrocephalus syndrome 0 trials
• Pseudodiastrophic dysplasia 0 trials