SE-ATLAS

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