SE-ATLAS

15q overgrowth syndrome ADULT syndrome Absence of fingerprints-congenital milia syndrome Acrokeratoderma Acrokeratoelastoidosis of Costa Acrokeratosis verruciformis of Hopf Acrorenal syndrome Adams-Oliver syndrome Angioosteohypertrophic syndrome Aphalangy-syndactyly-microcephaly syndrome Autosomal dominant cutis laxa Autosomal dominant diffuse mutilating palmoplantar keratoderma Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering Autosomal dominant isolated diffuse palmoplantar keratoderma Autosomal dominant palmoplantar keratoderma and congenital alopecia Autosomal dominant popliteal pterygium syndrome Autosomal recessive cutis laxa type 1 Autosomal recessive cutis laxa type 2 Autosomal recessive cutis laxa type 2, classic type Autosomal recessive cutis laxa type 2A Autosomal recessive cutis laxa type 2B Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature Autosomal recessive disease with focal palmoplantar keratoderma as a major feature Autosomal recessive isolated diffuse palmoplantar keratoderma Autosomal recessive palmoplantar keratoderma and congenital alopecia Bartsocas-Papas syndrome Beckwith-Wiedemann syndrome Beckwith-Wiedemann syndrome due to 11p15 microdeletion Beckwith-Wiedemann syndrome due to 11p15 microduplication Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion Beckwith-Wiedemann syndrome due to CDKN1C mutation Beckwith-Wiedemann syndrome due to NSD1 mutation Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 Blue rubber bleb nevus Brachydactyly-long thumb syndrome CEDNIK syndrome CLAPO syndrome CLOVES syndrome Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome Camptodactyly-tall stature-scoliosis-hearing loss syndrome Capillary malformation-arteriovenous malformation Cenani-Lenz syndrome Cerebral arteriovenous malformation Cerebrofacial arteriovenous metameric syndrome Cerebrofacial arteriovenous metameric syndrome type 1 Cerebrofacial arteriovenous metameric syndrome type 3 Cholestasis-lymphedema syndrome Combined immunodeficiency-enteropathy spectrum Common cystic lymphatic malformation Congenital lethal erythroderma Congenital systemic arteriovenous fistula Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Cowden syndrome Craniosynostosis-fibular aplasia syndrome Curly hair-acral keratoderma-caries syndrome Cutis laxa Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies Cutis marmorata telangiectatica congenita Cystic hamartoma of lung and kidney Darier disease Diffuse neonatal hemangiomatosis Diffuse palmoplantar keratoderma Diffuse palmoplantar keratoderma with painful fissures Diffuse palmoplantar keratoderma-acrocyanosis syndrome Disease with diffuse palmoplantar keratoderma as a major feature Disease with focal palmoplantar keratoderma as a major feature Dislocation of the hip-dysmorphism syndrome Disseminated superficial actinic porokeratosis Dural sinus malformation Dyskeratosis congenita Dysspondyloenchondromatosis Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome Epidermal nevus syndrome Epidermolytic palmoplantar keratoderma Erythrokeratoderma ''en cocardes Erythrokeratoderma variabilis progressiva Erythrokeratodermia variabilis FATCO syndrome Facial arteriovenous malformation Familial benign chronic pemphigus Familial cerebral cavernous malformation Familial expansile osteolysis Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Focal acral hyperkeratosis Focal dermal hypoplasia Focal facial dermal dysplasia Focal facial dermal dysplasia type I Focal facial dermal dysplasia type II Focal facial dermal dysplasia type IV Focal palmoplantar and gingival keratoderma Focal palmoplantar keratoderma Focal palmoplantar keratoderma with joint keratoses Frontonasal arteriovenous malformation Genochondromatosis type 1 Geroderma osteodysplastica Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome Glomuvenous malformation Gorham-Stout disease Guttmacher syndrome Haim-Munk syndrome Hajdu-Cheney syndrome Heart defects-limb shortening syndrome Heart-hand syndrome Heart-hand syndrome type 2 Heart-hand syndrome type 3 Heart-hand syndrome, Slovenian type Hemihyperplasia-multiple lipomatosis syndrome Hereditary benign intraepithelial dyskeratosis Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome Hereditary hemorrhagic telangiectasia Hereditary painful callosities Hereditary palmoplantar keratoderma Hereditary palmoplantar keratoderma, Gamborg-Nielsen type Hereditary sclerosing poikiloderma, Weary type Hidrotic ectodermal dysplasia Hidrotic ectodermal dysplasia, Christianson-Fourie type Hidrotic ectodermal dysplasia, Halal type Holt-Oram syndrome Huriez syndrome Hyperkeratosis-hyperpigmentation syndrome Hypoglossia-hypodactyly syndrome Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Hypopigmentation-punctate palmoplantar keratoderma syndrome Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome Idiopathic phalangeal acro-osteolysis Intellectual disability-polydactyly-uncombable hair syndrome Intestinal lymphangiectasia Inverse Klippel-Trénaunay syndrome Isolated congenital adermatoglyphia Isolated diffuse palmoplantar keratoderma Isolated focal palmoplantar keratoderma Isolated hemihyperplasia Isolated punctate palmoplantar keratoderma Kaposiform lymphangiomatosis Karsch-Neugebauer syndrome Keratoderma hereditarium mutilans Keratoderma hereditarium mutilans with ichthyosis Keratosis follicularis spinulosa decalvans Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome Keratosis palmaris et plantaris-clinodactyly syndrome Klippel-Trénaunay syndrome Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome Laurin-Sandrow syndrome Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome Linear nevus sebaceus syndrome Lymphedema-distichiasis syndrome Lymphedema-posterior choanal atresia syndrome MOMO syndrome Macrocystic lymphatic malformation Maffucci syndrome Mal de Meleda Malan overgrowth syndrome Mammary-digital-nail syndrome Mandibular arteriovenous malformation Marginal papular palmoplantar keratoderma Marshall-Smith syndrome Maxillary arteriovenous malformation Megalencephaly-capillary malformation-polymicrogyria syndrome Meige disease Metachondromatosis Microcystic lymphatic malformation Microphthalmia with limb anomalies Milroy disease Mirror polydactyly-vertebral segmentation-limbs defects syndrome Mixed cystic lymphatic malformation Mucocutaneous venous malformations Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome Multiple benign circumferential skin creases on limbs Mutilating palmoplantar keratoderma with periorificial keratotic plaques Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome Nail-patella syndrome Oliver syndrome Ollier disease Overgrowth syndrome Overgrowth-macrocephaly-facial dysmorphism syndrome PIK3CA-related overgrowth syndrome Palmoplantar keratoderma, Nagashima type Palmoplantar keratoderma-deafness syndrome Palmoplantar porokeratosis of Mantoux Papillon-Lefèvre syndrome Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome Perlman syndrome Peutz-Jeghers syndrome Phakomatosis cesioflammea Phakomatosis cesiomarmorata Phakomatosis pigmentokeratotica Phakomatosis pigmentovascularis Phakomatosis spilorosea Phalangeal microgeodic syndrome Phocomelia, Schinzel type Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome Polydactyly-myopia syndrome Porokeratosis Porokeratosis of Mibelli Porokeratosis plantaris palmaris et disseminata Postaxial polydactyly-dental and vertebral anomalies syndrome Preaxial polydactyly-colobomata-intellectual disability syndrome Primary cutis verticis gyrata Primary essential cutis verticis gyrata Primary intestinal lymphangiectasia Primary laryngeal lymphangioma Primary lymphedema Primary non-essential cutis verticis gyrata Progressive symmetric erythrokeratodermia Proteus syndrome Proteus-like syndrome Pseudoaminopterin syndrome Pseudoxanthoma elasticum Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa Punctate palmoplantar keratoderma Punctate palmoplantar keratoderma type 1 Punctate palmoplantar keratoderma type 2 RIN2 syndrome Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome Rare arteriovenous malformation Rare lymphatic malformation Rare venous malformation Restrictive dermopathy Rothmund-Thomson syndrome Rothmund-Thomson syndrome type 1 Rothmund-Thomson syndrome type 2 Rubinstein-Taybi syndrome Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to EP300 haploinsufficiency SCARF syndrome Scalp defects-postaxial polydactyly syndrome Schöpf-Schulz-Passarge syndrome Secondary intestinal lymphangiectasia Severe dermatitis-multiple allergies-metabolic wasting syndrome Short tarsus-absence of lower eyelashes syndrome Simpson-Golabi-Behmel syndrome Sirenomelia Skin fragility-woolly hair-palmoplantar keratoderma syndrome Sotos syndrome Spinal arteriovenous metameric syndrome Split hand-split foot-deafness syndrome Striate palmoplantar keratoderma Sturge-Weber syndrome Summitt syndrome Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome Syndrome with limb malformations as a major feature Tatton-Brown-Rahman syndrome Temple-Baraitser syndrome Temtamy preaxial brachydactyly syndrome Terminal osseous dysplasia-pigmentary defects syndrome Thost-Unna palmoplantar keratoderma Thrombocythemia with distal limb defects Thrombocytopenia-absent radius syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome Transgrediens et progrediens palmoplantar keratoderma Ulna hypoplasia-intellectual disability syndrome VACTERL/VATER association Vein of Galen aneurysmal malformation Von Hippel-Lindau disease Weaver syndrome Woolly hair-palmoplantar keratoderma syndrome Wrinkly skin syndrome Wyburn-Mason syndrome X-linked ichthyosis syndrome