Ulerythema Ophryogenesis |
|
Facial erythema, Hyperkeratotic papule, Miscarriage, Contact dermatitis, Follicular hyperkeratosi... |
ORPHA:3406 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis, Pruritus, Generalized abnormal... |
ORPHA:737 |
Acquired Ichthyosis |
|
Ichthyosis, Pruritus, Palmoplantar keratoderma, Erythema, Recurrent skin infections, Hyperkeratos... |
ORPHA:454 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperkeratosis, Scalin... |
OMIM:617571 |
Keratosis, Focal Palmoplantar And Gingival |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
OMIM:148730 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of the dentition |
OMIM:617756 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Congenital bullous ichthyosiform erythroderma, Ichthyosis, Palmoplantar hyperkeratosis, Erythema |
OMIM:607602 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Erythema, Congenital nonbullous ichthyosiform erythr... |
OMIM:617526 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis, Erythema |
OMIM:617525 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:617574 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Palmoplantar keratoderma, Hyperkeratosis, Recurrent cutaneous fungal infections |
OMIM:244850 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Hyperkeratosis, Pruritus, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar keratoderma, Follicular hyperkeratosi... |
OMIM:613000 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Orthokeratotic hyperkeratosis, Edema, Pa... |
ORPHA:498359 |
Lamellar Ichthyosis |
|
Lack of skin elasticity, Ichthyosis, Erythroderma, Everted lower lip vermilion, Hyperkeratosis, D... |
ORPHA:313 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Facial erythema, Sclerodactyly, Palmoplantar hyperkeratosis, Hyperkeratosis, Dry skin |
OMIM:212360 |
Congenital Panfollicular Nevus |
|
Hyperkeratosis, Pruritus |
ORPHA:139414 |
Porokeratosis Of Mibelli |
|
Porokeratosis, Hyperkeratosis, Pruritus |
ORPHA:735 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Skin ulcer, Pruritus, Erythema |
ORPHA:2337 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Mal De Meleda |
|
Ichthyosis, Inflammatory abnormality of the skin, Nonepidermolytic palmoplantar hyperkeratosis, S... |
ORPHA:87503 |
Huriez Syndrome |
|
Sclerodactyly, Palmoplantar keratoderma, Dry skin, Lack of skin elasticity |
ORPHA:384 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Atopic dermatitis, Palmoplantar scaling skin, Scaling skin, Nonepidermolytic palmoplantar hyperke... |
ORPHA:530838 |
Progressive Symmetric Erythrokeratodermia |
|
Palmoplantar keratoderma, Erythema |
ORPHA:316 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
Atrophoderma Vermiculata |
|
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis, Erythema |
ORPHA:79100 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Classic Mycosis Fungoides |
|
Pruritus, Skin rash, Skin ulcer, Eczema, Edema, Erythema, Hyperkeratosis, Dry skin |
ORPHA:2584 |
Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Palmoplantar keratoderma, Erythema |
OMIM:617524 |
Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Ichthyosis, Dry skin |
OMIM:146700 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis, Dry skin |
ORPHA:461 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Facial erythema, Pruritis on hand, Palmoplantar erythema, Striae distensae, Skin vesicle, Pruritu... |
ORPHA:64745 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Anonychia With Flexural Pigmentation |
|
Carious teeth, Hyperkeratosis, Follicular hyperkeratosis |
ORPHA:69125 |
Dermatitis, Atopic |
|
Facial erythema, Ichthyosis, Eczema, Pallor, Dry skin, Recurrent skin infections, Pruritus, Atopi... |
OMIM:603165 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Erythrokeratodermia Variabilis |
|
Cutaneous photosensitivity, Skin rash, Erythema, Hyperkeratosis, Patchy palmoplantar hyperkeratos... |
ORPHA:317 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Ichthyosis, Dry skin |
ORPHA:2271 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Recurrent skin infections |
ORPHA:79503 |
Bathing Suit Ichthyosis |
|
Thickened skin, Ichthyosis, Eclabion, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyos... |
ORPHA:100976 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Cutaneous photosensitivity, Gait disturbance, Ataxia, Dry skin, Urticaria |
ORPHA:1184 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Ichthyosis, Perioral erythema |
OMIM:248300 |
Sjögren-Larsson Syndrome |
|
Ichthyosis, Erythema, Hyperkeratosis, Dry skin, Urticaria |
ORPHA:816 |
Dermatoleukodystrophy |
|
Thickened skin, Progeroid facial appearance, Premature skin wrinkling |
OMIM:221790 |
Acral Self-Healing Collodion Baby |
|
Lack of skin elasticity, Edema of the dorsum of hands, Edema of the dorsum of feet, Palmoplantar ... |
ORPHA:281127 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:2812 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Lack of skin elasticity, Palmoplantar keratoderma |
ORPHA:1366 |
Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin, Sclerode... |
ORPHA:90158 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Cutaneous photosensitivity, Pruritus, Erythema |
ORPHA:33314 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Plantar hyperkeratosis, Palmar hyperkeratosis, Oral mucosal blisters, Hyperkeratosis, A... |
ORPHA:79399 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Ichthyosis, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema,... |
OMIM:606545 |
Vibratory Urticaria |
|
Facial erythema, Urticaria, Flushing |
OMIM:125630 |
Hypotrichosis 6 |
|
Pruritus, Follicular hyperkeratosis, Erythema |
OMIM:607903 |
Peeling Skin Syndrome 6 |
|
Orthokeratosis, Parakeratosis, Scaling skin, Dry skin, Pruritus, Atopic dermatitis |
OMIM:618084 |
Elastoderma |
|
Premature skin wrinkling, Eczema, Cutis laxa, Erysipelas |
ORPHA:228240 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Lack of skin elasticity, Abnormal circulating lipid concentration, Thickened skin, Hyperlipoprote... |
ORPHA:1979 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Pruritus, Dry skin |
OMIM:617920 |
Costello Syndrome |
|
Lack of skin elasticity, Polyhydramnios, Narrow palate, Thick lower lip vermilion, Macroglossia, ... |
ORPHA:3071 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Ichthyosis, Orthokeratosis, Erythema, Hyperkeratosis, Hypergranulosis |
OMIM:613943 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Scaling skin, Erythema, Hyperkerato... |
OMIM:614457 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Generalized ichthyosis, Cutis laxa, Eclabion, Scaling skin, Generalized hyperkeratosis, Dry skin |
ORPHA:2269 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Generalized ichthyosis, Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Paraker... |
OMIM:612281 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hyperkeratosis, Pruritus, Palmoplantar hyperkeratosis, Oral mucosal blisters |
ORPHA:89838 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Early cutaneous photosensitivity, Erythema, Death in infancy |
OMIM:219095 |
Mastocytosis, Cutaneous |
|
Telangiectasia macularis eruptiva perstans, Edema, Erythema, Urticaria |
OMIM:154800 |
Congenital Lethal Erythroderma |
|
Ichthyosis, Death in infancy, Dry skin, Congenital exfoliative erythroderma, Urticaria |
ORPHA:1954 |
Verrucous Hemangioma |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin |
ORPHA:464318 |
Acral Peeling Skin Syndrome |
|
Ichthyosis, Eczema, Scaling skin, Excessive wrinkling of palmar skin, Erythema |
ORPHA:263534 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Generalized ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Orthokeratotic hyperker... |
OMIM:615024 |
Superficial Epidermolytic Ichthyosis |
|
Ichthyosis, Edema, Erythema, Acantholysis, Palmoplantar keratoderma |
ORPHA:455 |
Cutaneous Mastocytoma |
|
Telangiectasia macularis eruptiva perstans, Darier's sign, Thickened skin, Pruritus, Peau d'orang... |
ORPHA:79455 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Hyperkeratosis, Pruritus |
OMIM:131850 |
Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythemat... |
ORPHA:79147 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, Hyperke... |
OMIM:615023 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis, Dry skin |
OMIM:617066 |
Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Pruritus, Erythema |
ORPHA:83453 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Erythema, Inflammatory abnormality of the skin |
ORPHA:90160 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Abnormality of dental morphology, Everted ... |
ORPHA:1028 |
Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Petechiae, Skin rash, Bruising susceptibility, Erythema, Vas... |
ORPHA:280779 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Erythema |
ORPHA:222 |
Quinquaud Folliculitis Decalvans |
|
Pustule, Erythema, Recurrent skin infections |
ORPHA:346 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Ichthyosis, Pruritus, Parakeratosis, Hyperkeratosis, Erythema, Palmoplantar keratoderma |
OMIM:615821 |
Dermatofibrosarcoma Protuberans |
|
Thickened skin, Skin ulcer, Erythema |
ORPHA:31112 |
Chilblain Lupus |
|
Pruritis on hand, Malar rash, Inflammatory abnormality of the skin, Discoid lupus rash, Skin rash... |
ORPHA:90280 |
Cutaneous Small Vessel Vasculitis |
|
Skin rash, Purpura, Cutis marmorata, Erythema, Recurrent skin infections, Urticaria |
ORPHA:889 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Skin vesicle, Erythema migrans, Palmoplantar hyperkeratosis, Parakeratosis, Skin fragility with n... |
ORPHA:158681 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Vasculitis in the skin, Erythema, Inflammatory abnormality o... |
ORPHA:90159 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Cutaneous photosensitivity, Ichthyosis, Congenital bullous ichthyosiform erythroderma, Skin ulcer... |
ORPHA:312 |
Erythema Nodosum, Familial |
|
Erythema, Erythema nodosum |
OMIM:132990 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
Harlequin Ichthyosis |
|
Ichthyosis, Erythroderma, Eclabion, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythro... |
ORPHA:457 |
Angioma Serpiginosum |
|
Vascular skin abnormality, Erythema |
ORPHA:95429 |
Bazex Syndrome |
|
Pruritus, Parakeratosis, Edema, Scaling skin, Hyperkeratosis, Acanthosis nigricans, Lip hyperpigm... |
ORPHA:166113 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Pruritus, Fragile skin, Telangiectases of the cheeks, Scaling skin, Punctate palmoplantar hyperke... |
OMIM:616295 |
Uv-Sensitive Syndrome 3 |
|
Cutaneous photosensitivity, Telangiectasia, Dry skin |
OMIM:614640 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Fragile skin, Scaling skin, Hyperkeratotic papule, Palmoplantar keratoderma |
OMIM:146590 |
Maculopapular Cutaneous Mastocytosis |
|
Darier's sign, Dermatographic urticaria, Flushing, Erythema, Pruritus, Generalized abnormality of... |
ORPHA:79457 |
Spinocerebellar Ataxia Type 34 |
|
Dysdiadochokinesis, Gait disturbance, Progressive cerebellar ataxia, Dry skin, Urticaria |
ORPHA:1955 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Facial erythema, Bruising susceptibility |
OMIM:143850 |
Familial Benign Chronic Pemphigus |
|
Acantholysis, Skin vesicle, Hyperkeratosis, Erythema |
ORPHA:2841 |
Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Ichthyosis, Cutis laxa, Eczema, Dysphagia, Hyperkeratosis, Dry skin |
OMIM:612379 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Pruritus, Palpebral edema, Erythema, Pharyngeal edema, Laryngeal edema, Tongue edema, Angioedema,... |
ORPHA:100057 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin |
OMIM:308800 |
Peeling Skin Syndrome 5 |
|
Scaling skin, Hyperkeratosis |
OMIM:617115 |
Uv-Sensitive Syndrome 1 |
|
Cutaneous photosensitivity, Telangiectasia, Dry skin |
OMIM:600630 |
Phenylketonuria |
|
Hyperactivity, Eczema, Scleroderma, Attention deficit hyperactivity disorder, Dry skin |
OMIM:261600 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Ichthyosis, Palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Parake... |
OMIM:242300 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Generalized ichthyosis, Orthokeratosis, Palmoplantar hyperkeratosis, Honeycomb palmoplantar hyper... |
ORPHA:79395 |
Lipoid Proteinosis |
|
Thickened skin, High palate, Tongue nodules, Thick lower lip vermilion, Pustule, Abnormal oral mu... |
ORPHA:530 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Ataxia, Scaling skin, Erythroderma, Hyperkeratosis, Dry skin |
OMIM:609180 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Facial erythema, Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Thic... |
ORPHA:495 |
Epidermolytic Palmoplantar Keratoderma |
|
Palmoplantar hyperkeratosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palma... |
ORPHA:2199 |
Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ichthyosis, Ataxia, Parakeratosis, Dysmetria, Xerostomia, Acanthosis nigricans, Hyperkeratosis, D... |
OMIM:618527 |
Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Cutaneous photosensitivity, Telangiectasia, Crusting erythematous dermatitis, Palmoplantar hyperk... |
ORPHA:158673 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Cutis laxa, Crusting erythematous dermatitis |
ORPHA:79148 |
Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Transaldolase Deficiency |
|
Edema, Telangiectasia, Hydrops fetalis, Premature skin wrinkling |
ORPHA:101028 |
Erythema Of Acral Regions |
|
Erythema |
OMIM:227000 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer |
ORPHA:409 |
Pemphigus Foliaceus |
|
Skin vesicle, Pruritus, Crusting erythematous dermatitis, Scaling skin, Pustule, Erythema, Erythr... |
ORPHA:79481 |
Keratolytic Winter Erythema |
|
Erythema |
OMIM:148370 |
Lichen Planus Pemphigoides |
|
Abnormal oral mucosa morphology, Hyperkeratosis, Pruritus, Skin vesicle |
ORPHA:254478 |
Focal Palmoplantar And Gingival Keratoderma |
|
Gingival hyperkeratosis, Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperke... |
ORPHA:2200 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar keratoderma, Palmoplantar erythema, Epidermal hyperkeratosis, Plantar hyperkeratosis |
OMIM:104100 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Perifolliculitis, Chronic furunculosis, Acne inversa, Recurrent cutaneous abscess formation, Foll... |
OMIM:613736 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Everted lower lip vermilion, Palmoplantar keratoderma, Abnormality of dental morphology |
ORPHA:2251 |
Sydenham Chorea |
|
Unsteady gait, Erythema |
ORPHA:306731 |
Pili Torti-Onychodysplasia Syndrome |
|
Ectodermal dysplasia, Generalized keratosis follicularis, Eczema, Palmoplantar keratoderma, Dry skin |
ORPHA:2890 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Erythema |
ORPHA:36237 |
Dermoodontodysplasia |
|
Ectodermal dysplasia, Dry skin |
OMIM:125640 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Palmoplantar keratoderma, Pruritus, Dry skin, Eczema |
OMIM:618535 |
Familial Cold Urticaria |
|
Erythema, Dehydration, Pruritus, Polydipsia, Urticaria |
ORPHA:47045 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema |
ORPHA:90157 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Congenital nonbullous ichthyosiform erythroderma, Everted lower lip vermilion, Hyperkeratosis, Er... |
OMIM:242100 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Lack of skin elasticity, Dental crowding, Hypertriglyceridemia, Narrow mouth |
OMIM:615381 |
Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema |
|
Erythema migrans |
OMIM:609352 |
Erythema Palmare Hereditarium |
|
Erythema |
OMIM:133000 |
Benign Chronic Pemphigus |
|
Erythema |
OMIM:169600 |
Annular Erythema |
|
Erythema |
OMIM:106500 |
Alg8-Cdg |
|
Hydrops fetalis, Cutis laxa, Abnormality of subcutaneous fat tissue, Premature skin wrinkling, At... |
ORPHA:79325 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Enamel hypoplasia, Congenital bullous ichthyosiform erythroderma, Thin upper lip vermilion, Palmo... |
OMIM:613576 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin |
OMIM:247100 |
Protoporphyria, Erythropoietic, 1 |
|
Eczema, Edema, Erythema, Pruritus, Hypertriglyceridemia |
OMIM:177000 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Psoriasis 2 |
|
Parakeratosis, Scaling skin, Hyperkeratosis, Psoriasiform dermatitis |
OMIM:602723 |
Congenital Disorder Of Glycosylation, Type Im |
|
Increased circulating free fatty acid level, Ichthyosis, Inflammatory abnormality of the skin, De... |
OMIM:610768 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Ichthyosis, Dry skin, Mild intrauterine growth retardation, Broad-based gait |
OMIM:616943 |
Skin Fragility-Woolly Hair Syndrome |
|
Palmoplantar erythema, Palmoplantar hyperkeratosis, Palmoplantar scaling skin, Fragile skin, Acan... |
OMIM:607655 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
Keratosis Pilaris Atrophicans |
|
Erythema |
OMIM:604093 |
Classic Phenylketonuria |
|
Lack of skin elasticity, Attention deficit hyperactivity disorder, Hyperphenylalaninemia, Eczema |
ORPHA:79254 |
Stiff Skin Syndrome |
|
Lack of skin elasticity, Abnormal circulating lipid concentration, Thickened skin |
ORPHA:2833 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Skin ulcer, Fragile skin, Erythema, Telangiectasia of the skin |
ORPHA:542592 |
Peeling Skin Syndrome 4 |
|
Ichthyosis, Orthokeratosis, Scaling skin, Hyperkeratosis, Palmoplantar keratoderma |
OMIM:607936 |
Werner Syndrome |
|
Lack of skin elasticity, Skin ulcer, Neoplasm of the oral cavity, Miscarriage, Hyperkeratosis |
ORPHA:902 |
Prolidase Deficiency |
|
Cutaneous photosensitivity, Pruritus, Crusting erythematous dermatitis, Skin ulcer, Hyperkeratosi... |
ORPHA:742 |
Riddle Syndrome |
|
Dry skin, Ataxia |
OMIM:611943 |
Irida Syndrome |
|
Pallor, Hyperkeratosis, Ichthyosis, Decreased circulating copper concentration |
ORPHA:209981 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Follicular hyperkeratosis, Dry skin |
ORPHA:486815 |
Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Hypergranul... |
OMIM:604117 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Pruritus |
OMIM:618531 |
Primary Erythromelalgia |
|
Pruritus, Erythema |
ORPHA:90026 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Congenital nonbullous ichthyosiform erythroder... |
OMIM:601952 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
Lichen Planopilaris |
|
Hyperkeratosis, Skin ulcer, Pruritus, Neoplasm of the oral cavity |
ORPHA:525 |
Infantile Digital Fibromatosis |
|
Parakeratosis, Hyperkeratosis |
ORPHA:199267 |
Autosomal Erythropoietic Protoporphyria |
|
Cutaneous photosensitivity, Eczema, Edema, Erythema, Pruritus |
ORPHA:79278 |
Hypotrichosis Simplex Of The Scalp |
|
Pruritus, Parakeratosis, Scaling skin, Hyperkeratosis, Atopic dermatitis, Abnormality of the dent... |
ORPHA:90368 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
Olmsted Syndrome 2 |
|
Pruritus, Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Perioral hyperkeratosis, Pa... |
OMIM:619208 |
Peeling Skin Syndrome 2 |
|
Scaling skin, Erythema |
OMIM:609796 |
Thyroid Dyshormonogenesis 1 |
|
Lethargy, Dry skin, Umbilical hernia |
OMIM:274400 |
Cleft Palate-Lateral Synechia Syndrome |
|
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth |
ORPHA:2016 |
Keratoderma Hereditarium Mutilans |
|
Cleft palate, Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis |
ORPHA:494 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Ichthyosis, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderm... |
OMIM:602540 |
Leopard Syndrome 3 |
|
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis |
OMIM:613707 |
Dermatitis Herpetiformis |
|
Skin vesicle, Eczema, Edema, Erythema, Pruritus, Urticaria |
ORPHA:1656 |
Rothmund-Thomson Syndrome, Type 1 |
|
Conical tooth, Hyperkeratosis |
OMIM:618625 |
Cole Disease |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Abnormal blood phosphate co... |
OMIM:615522 |
Cutis Laxa, Autosomal Dominant 3 |
|
Premature skin wrinkling, Intrauterine growth retardation, Cutis laxa |
OMIM:616603 |
Sézary Syndrome |
|
Pruritus, Edema, Erythroderma, Palmoplantar keratoderma, Dry skin |
ORPHA:3162 |
Lymphatic Malformation 12 |
|
Polyhydramnios, Lymphedema, Nonimmune hydrops fetalis, Fetal ascites, Death in adolescence, Hyper... |
OMIM:620014 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Pruritus, Dry skin |
OMIM:105250 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Premature skin wrinkling, Ataxia, Attention deficit hyperactivity disorder, Unstea... |
ORPHA:1942 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Hyperextensible skin, Follicular hyperkeratosis, Elevated circulating creatine kinase concentration |
ORPHA:300179 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Parakeratosis, Superficial dermal perivascular inflammat... |
ORPHA:284426 |
Pierpont Syndrome |
|
Widely spaced teeth, Everted lower lip vermilion, Thin upper lip vermilion, Excessive wrinkling o... |
ORPHA:487825 |
Antisynthetase Syndrome |
|
Lack of skin elasticity, Skin rash, Elevated circulating creatine kinase concentration, Edema, Xe... |
ORPHA:81 |
Lymphatic Malformation 4 |
|
Prominent superficial veins, Pedal edema, Hyperkeratosis, Lymphedema |
OMIM:615907 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Parakeratosis, Hyperkeratosis, Agitation |
OMIM:618339 |
Pityriasis Rubra Pilaris |
|
Thickened skin, Ichthyosis, Pruritus, Abnormal oral cavity morphology, Eczema, Pustule, Subungual... |
ORPHA:2897 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:618546 |
Aicardi-Goutieres Syndrome 5 |
|
Scaling skin, Chilblains, Dry skin |
OMIM:612952 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling |
OMIM:617950 |
Flynn-Aird Syndrome |
|
Carious teeth, Hyperkeratosis |
OMIM:136300 |
Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling |
OMIM:601349 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Hypergranulosis, Patchy palmoplantar hyperkeratosis, Generalized hyperkeratosis, Erythroderma |
OMIM:133200 |
Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Pruritus, Dermatographic urticaria, Erythema, Angioedema, Cold urticaria |
OMIM:614468 |
Gaucher Disease, Perinatal Lethal |
|
Polyhydramnios, Ichthyosis, Everted upper lip vermilion, Petechiae, Open mouth, Purpura, Nonimmun... |
OMIM:608013 |
Psoriasis 14, Pustular |
|
Parakeratosis, Pustule, Psoriasiform dermatitis, Erythema |
OMIM:614204 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Decreased retinol-binding protein level, Follicular hyperkeratosis, Comedonal acne |
OMIM:615147 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Erythroderma, Wh... |
OMIM:604777 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Pruritus, Eczema, Erythema |
OMIM:254400 |
Netherton Syndrome |
|
Ichthyosis, Erythroderma, Skin rash, Eczema, Congenital nonbullous ichthyosiform erythroderma, Ac... |
ORPHA:634 |
14Q11.2 Microdeletion Syndrome |
|
High palate, Long philtrum, Deep philtrum, Everted lower lip vermilion, Narrow mouth, Exaggerated... |
ORPHA:261120 |
Ramon Syndrome |
|
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Hyperkeratosis, Abnormal dental ... |
ORPHA:3019 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Hyperkeratosis, Pruritus |
ORPHA:89843 |
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Skin rash, Cutaneous abscess, Chronic mucocutaneous candidiasis, Erythema, Eczematoid dermatitis |
OMIM:147060 |
Olmsted Syndrome, X-Linked |
|
Palmoplantar hyperkeratosis, Parakeratosis, Hyperkeratosis, Subungual hyperkeratosis, Palmoplanta... |
OMIM:300918 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, High palate, Thick lower lip vermilion, Hypodontia, Short philtrum, Everted lower ... |
OMIM:618342 |
Man1B1-Cdg |
|
Cutis laxa, Eclabion, Short philtrum, Thin upper lip vermilion, Polyphagia, Smooth philtrum, Thic... |
ORPHA:397941 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
High palate, Delayed eruption of teeth, Abnormality of dental morphology, Gingival fibromatosis, ... |
ORPHA:2025 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Dry skin, Broad-based gait |
OMIM:614450 |
Leri Pleonosteosis |
|
Lack of skin elasticity, Thickened skin |
ORPHA:2900 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Gait imbalance, Inability to walk, Skin ulcer, Hyperkeratosis, Steppage gait, Penetrating foot ul... |
ORPHA:36386 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Prematurely aged appearance, Dry skin, Premature graying of hair |
ORPHA:2617 |
Warty Dyskeratoma |
|
Neoplasm of the tongue, Abnormal hard palate morphology, Epidermal thickening, Acrokeratosis, Abn... |
ORPHA:69745 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Enamel hypoplasia, Delayed eruption of teeth, Hypodontia, Hyperkeratosis, Dysphagia, Palmoplantar... |
OMIM:616029 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Death in infancy, Intrauterine growth retardation, Hyperkeratosis, Dry skin |
OMIM:614576 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent skin infections, Orthokeratosis, Psoriasiform dermatitis, Erythroderma, Acantholysis, P... |
OMIM:615508 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Lack of skin elasticity, High palate, Long philtrum, Redundant skin, Excessive wrinkled skin |
OMIM:612940 |
Rare Cutaneous Lupus Erythematosus |
|
Cutaneous photosensitivity, Malar rash, Nail bed telangiectasia, Crusting erythematous dermatitis... |
ORPHA:535 |
Iga Pemphigus |
|
Skin vesicle, Neutrophilic infiltration of the skin, Cutaneous abscess, Pustule, Oral mucosal bli... |
ORPHA:555905 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Ectodermal dysplasia, Dry skin |
OMIM:600906 |
Xeroderma Pigmentosum Variant |
|
Cutaneous photosensitivity, Telangiectasia, Dry skin |
ORPHA:90342 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Everted lower lip vermilion, Thin vermilion border, Smooth philtrum |
ORPHA:73273 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Macs Syndrome |
|
Irregular dentition, Recurrent aphthous stomatitis, Ichthyosis, High palate, Cutis laxa, Long phi... |
OMIM:613075 |
Proteus Syndrome |
|
Open mouth, Hyperkeratosis |
OMIM:176920 |
Rhizomelic Chondrodysplasia Punctata |
|
Spina bifida occulta, Ichthyosis, Dry skin |
ORPHA:177 |
Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Erythema, Urticaria |
ORPHA:703 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Ichthyosis, Orthokeratosis, Jaundice, Parakeratosis, Pruritus, Dry skin |
OMIM:607626 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Blepharochalasis, Hyperextensible skin, Gingival hyperkeratosis, Dermal translucency, Hypodontia,... |
OMIM:225410 |
Chronic Mucocutaneous Candidiasis |
|
Pruritus, Skin rash, Skin ulcer, Erythema, Hyperkeratosis |
ORPHA:1334 |
Pemphigus Vulgaris |
|
Acantholysis, Recurrent cutaneous abscess formation, Abnormal oral cavity morphology |
ORPHA:704 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Dry skin, Acanthosis nigricans |
ORPHA:3085 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis, Decreased circulating copper concentration, Decreased circulating cer... |
ORPHA:171851 |
Odontoonychodermal Dysplasia |
|
Palmoplantar erythema, Hypergranulosis, Orthokeratosis, Palmoplantar hyperkeratosis, Plantar hype... |
OMIM:257980 |
Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Reduced subcutaneous adipose tissue, Scaling skin, Erythema... |
ORPHA:90156 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Thick lower lip vermilion, Everted lower lip vermilion, Dental crowding |
OMIM:300844 |
Rosaï-Dorfman Disease |
|
Erythema |
ORPHA:158014 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Plantar hyperkeratosis, Palmar hyperkeratosis, Oral mucosal blisters, Abno... |
ORPHA:79397 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Soft skin, Striae distensae, Hyperextensible skin |
OMIM:130020 |
8Q22.1 Microdeletion Syndrome |
|
Lack of skin elasticity, Submucous cleft hard palate, Long philtrum, Abnormality of the dentition |
ORPHA:178303 |
Complex Regional Pain Syndrome |
|
Pedal edema, Edema of the upper limbs, Dry skin, Erythema |
ORPHA:83452 |
Hyper-Ige Recurrent Infection Syndrome 3, Autosomal Recessive |
|
Chronic oral candidiasis, Eczema, Cutaneous abscess, Chronic mucocutaneous candidiasis, Dry skin,... |
OMIM:618282 |
Autosomal Dominant Prognathism |
|
Everted lower lip vermilion, Open bite |
ORPHA:2964 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ectodermal dysplasia, Dry skin |
OMIM:129490 |
Pseudoxanthoma Elasticum |
|
Lack of skin elasticity, Striae distensae, High palate, Hyperextensible skin, Skin rash, Pruritus... |
ORPHA:758 |
Acrogeria |
|
Excessive wrinkled skin, Prematurely aged appearance, Skin ulcer, Telangiectasia of the skin |
ORPHA:2500 |
Darier Disease |
|
Skin vesicle, Thickened skin, Pruritus, Acrokeratosis, Palmoplantar keratoderma, Subungual hyperk... |
ORPHA:218 |
Snakebite Envenomation |
|
Neuromuscular dysphagia, Pseudobulbar paralysis, Ecchymosis, Edema, Erythema, Angioedema |
ORPHA:449285 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Streaks of hyperkeratosis along each ... |
OMIM:148700 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Dry skin, Umbilical hernia |
OMIM:275100 |
Nicolaides-Baraitser Syndrome |
|
Long philtrum, Wide mouth, Eczema, Everted lower lip vermilion, Smooth philtrum, Thin vermilion b... |
ORPHA:3051 |
White Sponge Nevus 2 |
|
Edema, Hyperparakeratosis |
OMIM:615785 |
Neu-Laxova Syndrome |
|
Lack of skin elasticity, Polyhydramnios, Abnormality of the philtrum, Ichthyosis, Bifid uvula, Su... |
ORPHA:2671 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Attention deficit hyperactivity disorder, Dry skin |
OMIM:617364 |
Growth Hormone Insensitivity Syndrome |
|
Everted lower lip vermilion, Delayed eruption of teeth, Hypercholesterolemia |
ORPHA:181393 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Conical tooth, Delayed eruption of teeth, Hypodontia, Abnormality of dental morphology, Agenesis ... |
ORPHA:2228 |
Darier-White Disease |
|
Acrokeratosis, Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyperkeratotic fra... |
OMIM:124200 |
Meige Disease |
|
Pedal edema, Recurrent bacterial skin infections, Lymphedema, Edema of the dorsum of hands, Cobbl... |
ORPHA:90186 |
Developmental And Epileptic Encephalopathy 88 |
|
Hyperglutamatemia, Everted lower lip vermilion |
OMIM:618959 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Thickened skin, Palmoplantar keratoderma, Skin ulcer, Erythema |
ORPHA:659 |
Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Generalized ichthyosis, Dermatographic urticaria, Erythroderma, Pruritus, Follicu... |
OMIM:608649 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Facial erythema, Palmoplantar keratoderma, Folliculitis |
OMIM:612843 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Erythema, Inflammatory abnormality of the skin |
ORPHA:79099 |
Pityriasis Rubra Pilaris |
|
Orthokeratosis, Parakeratosis, Subungual hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis |
OMIM:173200 |
Dermoodontodysplasia |
|
Ectodermal dysplasia, Dry skin |
ORPHA:1660 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Palmoplantar hyperkeratosis, Flushing, Redundant skin, Erythema, Eczematoid dermatitis, Seborrhei... |
OMIM:259100 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Lack of skin elasticity, High palate, Hyperlipidemia, Abnormality of the dentition |
ORPHA:90153 |
Dowling-Degos Disease |
|
Skin vesicle, Hyperkeratotic papule, Pruritus, Acne inversa, Hyperkeratosis |
ORPHA:79145 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Everted lower lip vermilion, Neonatal death, Congenital ichthyosiform erythroderma, Death in infancy |
OMIM:242500 |
Pierpont Syndrome |
|
Widely spaced teeth, Prominent median palatal raphe, Everted lower lip vermilion, Smooth philtrum... |
OMIM:602342 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin, Umbilical hernia |
ORPHA:1035 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Dry skin |
OMIM:617388 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis, Hypergranulosis |
ORPHA:79151 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Everted lower lip vermilion, Thin upper lip vermilion, Short philtrum, Wide mouth |
ORPHA:2429 |
Cdkl5-Deficiency Disorder |
|
Everted lower lip vermilion, Deep philtrum, Thick vermilion border |
ORPHA:505652 |
Craniofaciofrontodigital Syndrome |
|
Polyhydramnios, Palmoplantar cutis laxa, Cutis laxa, Pericardial effusion, Premature skin wrinkli... |
ORPHA:363705 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Everted lower lip vermilion, Oligodontia, Anodontia |
ORPHA:276630 |
Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Follicular hyperkeratosis, Oral leukoplakia |
OMIM:148500 |
Trichothiodystrophy 1, Photosensitive |
|
Cutaneous photosensitivity, Telangiectasia, Death in infancy, Congenital nonbullous ichthyosiform... |
OMIM:601675 |
Noonan Syndrome 8 |
|
Polyhydramnios, Hyperextensible skin, Palmoplantar cutis laxa, Eczema, Pleural effusion, Hyperker... |
OMIM:615355 |
Cog7-Cdg |
|
Jaundice, Excessive wrinkled skin |
ORPHA:79333 |
Sunct Syndrome |
|
Facial erythema, Agitation, Flushing, Palpebral edema, Restlessness, Facial edema |
ORPHA:57145 |
Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczema |
OMIM:618116 |
Oligodontia |
|
Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho... |
ORPHA:99798 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Scaling skin, Palmoplantar keratoderma, Conjunctival telangiectasia, Dry skin |
OMIM:618373 |
Cog5-Cdg |
|
Truncal ataxia, Premature skin wrinkling, Intrauterine growth retardation, Oligohydramnios |
ORPHA:263487 |
Developmental And Epileptic Encephalopathy 23 |
|
Everted lower lip vermilion, Short philtrum, Thick vermilion border |
OMIM:615859 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Orthokeratosis, Acne inversa, Short philtrum, Eczema, Subungual hyperkeratosis, Clef... |
OMIM:617337 |
Baralle-Macken Syndrome |
|
Striae distensae, High, narrow palate, Acanthosis nigricans |
OMIM:619255 |
Xeroderma Pigmentosum, Complementation Group F |
|
Cutaneous photosensitivity, Ataxia, Erythema |
OMIM:278760 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis |
ORPHA:281090 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis |
ORPHA:38 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Punctate palmoplantar hyperkeratosis, Hypergranulosis, Orthokeratosis |
OMIM:148600 |
Kcnq2-Related Epileptic Encephalopathy |
|
Facial erythema, Cerebral edema, Inability to walk, Pallor |
ORPHA:439218 |
Porokeratosis |
|
Hyperkeratosis, Pruritus |
ORPHA:79358 |
Fixed Drug Eruption |
|
Generalized abnormality of skin, Erythema, Crusting erythematous dermatitis |
ORPHA:293812 |
Squalene Synthase Deficiency |
|
Hypocholesterolemia, Cutaneous photosensitivity, Dry skin, Intrauterine growth retardation |
OMIM:618156 |
Kanzaki Disease |
|
Petechiae, Lymphedema, Telangiectasia of the oral mucosa, Hyperkeratosis, Angiokeratoma corporis ... |
OMIM:609242 |
Liang-Wang Syndrome |
|
Macrodontia of permanent maxillary central incisor, Wide mouth, Macroglossia, Diastema, Everted l... |
OMIM:618729 |
Omenn Syndrome |
|
Thickened skin, Edema, Erythroderma, Pruritus, Dry skin |
ORPHA:39041 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Perianal erythema, Perioral erythema, Erythroderma |
OMIM:614328 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Erythema |
OMIM:610015 |
Cofs Syndrome |
|
Everted lower lip vermilion, Death in infancy |
ORPHA:1466 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Prolonged neonatal jaundice, Dry skin, Umbilical hernia |
ORPHA:95715 |
Polyarteritis Nodosa |
|
Skin ulcer, Cutis marmorata, Erythema |
ORPHA:767 |
Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Hypodontia, Follicular hyperkeratosis |
OMIM:262020 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema, Hyperkeratosis, Telangiectasia, Telangiectasia of the skin |
ORPHA:79279 |
Oral Erosive Lichen |
|
Dry skin, Erythema |
ORPHA:31142 |
Short Syndrome |
|
Prominent superficial veins, Premature skin wrinkling, Intrauterine growth retardation |
OMIM:269880 |
Chromomycosis |
|
Hyperkeratotic papule, Pruritus, Abnormal oral cavity morphology, Lymphedema, Predominantly lower... |
ORPHA:182 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perianal erythema, Ataxia, Perioral erythema, Lethargy, Dry skin |
OMIM:201100 |
Non-Distal Trisomy 10Q |
|
Everted lower lip vermilion, High palate |
ORPHA:1695 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Palmoplantar hyperkeratosis, Punctate palmoplantar hyperkeratosis, Dry skin, Subungual hyperkerat... |
ORPHA:69087 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Olmsted Syndrome 1 |
|
Pruritus, Orthokeratosis, Parakeratosis, Hyperparakeratosis, Subungual hyperkeratosis, Palmoplant... |
OMIM:614594 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Meningocele, Facial erythema, Sclerodactyly, Scaling skin, Palmoplantar keratoderma, Poor wound h... |
ORPHA:1010 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Dry skin, Acanthosis nigricans |
OMIM:268020 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Oral leukoplakia |
OMIM:167200 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Hyperextensible skin, Long philtrum, Delayed eruption of teeth, Everted lower li... |
ORPHA:915 |
Adiposis Dolorosa |
|
Telangiectasia of the skin, Bruising susceptibility, Xerostomia, Recurrent skin infections, Dry skin |
ORPHA:36397 |
Radio-Tartaglia Syndrome |
|
Striae distensae, Gait imbalance, Ataxia, Impulsivity, Attention deficit hyperactivity disorder, ... |
OMIM:619312 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Hyperkeratosis, Pruritus, Congenital ichthyosiform erythroderma, Conical primary incisor |
OMIM:602400 |
Distal Trisomy 6P |
|
Dry skin, Intrauterine growth retardation |
ORPHA:1745 |
Maxillonasal Dysplasia |
|
Striae distensae, Microdontia, Tooth agenesis, Cleft palate, Open bite |
ORPHA:1248 |
Familial Melanoma |
|
Dry skin |
ORPHA:618 |
Autosomal Dominant Cerebellar Ataxia |
|
Akinesia, Pseudobulbar paralysis, Choreoathetosis, Gait disturbance, Erythema, Hyperkeratosis, Pr... |
ORPHA:99 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Everted lower lip vermilion, Thin upper lip vermilion, Long philtrum, Wide mouth |
OMIM:619595 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Malar rash, Telangiectasia, Skin rash, Cutis marmorata, Livedo reticularis, Pustule, Pustular ras... |
OMIM:615934 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Conical tooth, Everted upper lip vermilion, Microdontia, Hypodontia, Oligodontia, Anodontia, Ever... |
OMIM:224900 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Long philtrum, Bifid uvula, Everted lower lip vermilion, Downturned corners of mou... |
OMIM:618089 |
Monilethrix |
|
Follicular hyperkeratosis, Abnormality of the dentition |
ORPHA:573 |
Chromosome 15Q14 Deletion Syndrome |
|
Short philtrum, Everted lower lip vermilion, Cleft lip, Tented upper lip vermilion, Cleft palate |
OMIM:616898 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Sclerodactyly, Orthokeratotic hyperkeratosis, Hypercholesterolemia, Palmoplantar keratoderma, Hyp... |
OMIM:610644 |
Pemphigus Erythematosus |
|
Acantholysis, Malar rash, Oral ulcer |
ORPHA:79480 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis, Short philtrum, Wide mouth, Death in infancy |
ORPHA:163966 |
Geroderma Osteodysplasticum |
|
Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, Premature skin wrinkling, ... |
OMIM:231070 |
8Q12 Microduplication Syndrome |
|
Everted lower lip vermilion, Narrow mouth, Attention deficit hyperactivity disorder, Long philtrum |
ORPHA:228399 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Acrocyanosis, Purpura, Ataxia, Erythema, Urticaria |
ORPHA:343 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormality of dental morphology, Eczema, Tooth agenesis, Xerostomia, Hyperkeratosis, Abnormality... |
ORPHA:238468 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Angular cheilitis, Skin vesicle, Follicular hyperkeratosis |
OMIM:613102 |
Mitral Valve Prolapse 1 |
|
Striae distensae, High palate, High, narrow palate |
OMIM:157700 |
Subcorneal Pustular Dermatosis |
|
Pustule, Pruritus, Erythema |
ORPHA:48377 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Striae distensae |
OMIM:618793 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Delayed eruption of teeth, Microdontia, Everted lower lip vermilion, Thin upper lip ... |
OMIM:619736 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Dry skin, Acanthosis nigricans |
OMIM:262190 |
Fountain Syndrome |
|
Spina bifida, Cutis marmorata, Spina bifida occulta, Erythema, Facial edema |
ORPHA:3219 |
Hereditary Mucoepithelial Dysplasia |
|
Furrowed tongue, Hyperkeratosis, Gingival overgrowth |
ORPHA:1839 |
Milroy Disease |
|
Pedal edema, Lymphedema, Predominantly lower limb lymphedema, Erysipelas, Hyperkeratosis |
ORPHA:79452 |
Mucolipidosis Type Iv |
|
Everted lower lip vermilion, Microdontia, Palmoplantar keratoderma |
ORPHA:578 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Acantholysis, Neonatal death, Natal tooth |
OMIM:609638 |
Trichodysplasia-Xeroderma Syndrome |
|
Dry skin |
ORPHA:3361 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Everted lower lip vermilion, Short philtrum, Attention deficit hyperactivity disorder, Long philtrum |
OMIM:619556 |
Aicardi-Goutieres Syndrome 1 |
|
Petechiae, Inability to walk, Chilblains, Acrocyanosis, Purpura, Erythema, Prolonged neonatal jau... |
OMIM:225750 |
Juvenile Dermatomyositis |
|
Cutaneous photosensitivity, Mucosal telangiectasiae, Skin rash, Skin ulcer, Palpebral edema, Eryt... |
ORPHA:93672 |
Ddost-Cdg |
|
Dry skin |
ORPHA:300536 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Mild intrauterine growth retardation, Orthokeratosis, Parakeratosis, Erythema, Stillbirth, Hyperk... |
OMIM:308050 |
Agel Amyloidosis |
|
Blepharochalasis, Cutis laxa, Dermatological manifestations of systemic disorders, Bruising susce... |
ORPHA:85448 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Hyperkeratosis |
ORPHA:1883 |
Refsum Disease |
|
Ichthyosis, Dry skin, Ataxia |
ORPHA:773 |
Neutrophilic Dermatosis, Acute Febrile |
|
Acne inversa, Pyoderma gangrenosum, Cystic acne, Erythema |
OMIM:608068 |
Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Wide mouth |
OMIM:615279 |
Immunodeficiency 55 |
|
Ichthyosis, Eczema, Intrauterine growth retardation, Recurrent skin infections, Dry skin |
OMIM:617827 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Prolonged neonatal jaundice, Dry skin, Umbilical hernia |
ORPHA:226313 |
Leopard Syndrome 2 |
|
Dry skin |
OMIM:611554 |
Arthrogryposis Multiplex Congenita 5 |
|
Polyhydramnios, Akinesia, Death in infancy, Premature skin wrinkling, Intrauterine growth retarda... |
OMIM:618947 |
Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Hyperkeratotic papule, Cobblestone-like hyperkeratosis, Palmoplantar hyperkeratos... |
ORPHA:189 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Gait ataxia, Cerebral edema, Skin rash, Ataxia, Erythema, Lethargy, Death in childhood |
OMIM:618321 |
Peroxisome Biogenesis Disorder 14B |
|
Dry skin |
OMIM:614920 |
Linear Verrucous Nevus Syndrome |
|
Hypophosphatemia, Hyperkeratosis |
ORPHA:2611 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cutaneous photosensitivity, Skin rash, Ataxia, Prematurely aged appearance, Dry skin, Urticaria |
ORPHA:220295 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Gait ataxia, Dysdiadochokinesis, Reduced subcutaneous adipose tissue, Decre... |
OMIM:606721 |
Incontinentia Pigmenti |
|
Skin rash, Skin ulcer, Gait disturbance, Spina bifida occulta, Attention deficit hyperactivity di... |
ORPHA:464 |
Bachmann-Bupp Syndrome |
|
Polyhydramnios, Attention deficit hyperactivity disorder, Dry skin |
OMIM:619075 |
German Syndrome |
|
High palate, Lymphedema, Everted lower lip vermilion, Dysphagia, Open mouth, Orofacial cleft |
ORPHA:2077 |
Pachyonychia Congenita |
|
Angular cheilitis, Natal tooth, Advanced eruption of teeth, Palmar hyperkeratosis, Linear arrays ... |
ORPHA:2309 |
Geleophysic Dysplasia 1 |
|
Lack of skin elasticity, Thickened skin, Long philtrum, Wide mouth, Smooth philtrum |
OMIM:231050 |
Temple-Baraitser Syndrome |
|
High palate, Everted upper lip vermilion, Long philtrum, Delayed eruption of teeth, Wide mouth, E... |
ORPHA:420561 |
Smith-Magenis Syndrome |
|
Hyperactivity, Everted upper lip vermilion, Abnormality of the dentition, Velopharyngeal insuffic... |
OMIM:182290 |
Tangier Disease |
|
Hypertriglyceridemia, Dry skin |
OMIM:205400 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Everted lower lip vermilion |
OMIM:278200 |
Noonan Syndrome 13 |
|
Attention deficit hyperactivity disorder, Dry skin, Bruising susceptibility, Lymphedema |
OMIM:619087 |
Nicolaides-Baraitser Syndrome |
|
Gait ataxia, Ichthyosis, Premature skin wrinkling, Eczema, Attention deficit hyperactivity disord... |
OMIM:601358 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Short philtrum, High palate, Everted upper lip vermilion, Wide mouth |
ORPHA:280763 |
Trichothiodystrophy 3, Photosensitive |
|
Ichthyosis, Natal tooth, Eclabion, Congenital nonbullous ichthyosiform erythroderma, Carious teet... |
OMIM:616395 |
Weill-Marchesani Syndrome 2 |
|
Lack of skin elasticity, Thickened skin, Narrow palate, Striae distensae, High palate, Abnormalit... |
OMIM:608328 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Everted lower lip vermilion, Polyphagia, Tented upper lip vermilion, Open mouth, M... |
ORPHA:228402 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Periorbital edema, Erythema, Pharyngeal edema, Laryngeal edema, Angioedema |
OMIM:106100 |
Hereditary Acrokeratotic Poikiloderma |
|
Ichthyosis, Skin ulcer, Palmoplantar hyperkeratosis, Eczema, Pustule, Xerostomia, Erythema, Telan... |
ORPHA:2907 |
Xeroderma Pigmentosum |
|
Cutaneous photosensitivity, Telangiectasia, Thickened skin, Ataxia, Conjunctival telangiectasia, ... |
ORPHA:910 |
Cardiofaciocutaneous Syndrome |
|
Ichthyosis, Lymphedema, Redundant skin, Palmoplantar keratoderma, Hyperkeratosis, Dry skin, Exces... |
ORPHA:1340 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Striae distensae, Wide mouth, Thick lower lip vermilion, Macroglossia |
OMIM:300354 |
Kohlschutter-Tonz Syndrome-Like |
|
Inability to walk, Agitation, Oligohydramnios, Ataxia, Death in adolescence, Intrauterine growth ... |
OMIM:619229 |
Atypical Werner Syndrome |
|
Lack of skin elasticity, Skin ulcer, Neoplasm of the oral cavity, Thin vermilion border, Hyperker... |
ORPHA:79474 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Short philtrum, Everted lower lip vermilion, Furrowed tongue, Tooth malposition |
ORPHA:1387 |
Immunoglobulin A Vasculitis |
|
Skin rash, Skin ulcer, Purpura, Bruising susceptibility, Edema, Pustule, Erythema, Vascular skin ... |
ORPHA:761 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Inability to walk, Ataxia, Progeroid facial appearance, Athetosis, Intrauterine growth retardatio... |
ORPHA:357058 |
Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis, Ectodermal dysplasia, Dry skin |
OMIM:601701 |
Mednik Syndrome |
|
Ichthyosis, Death in infancy, Erythema, Neonatal death, Death in childhood |
OMIM:609313 |
Adult-Onset Still Disease |
|
Skin rash, Pruritus, Joint swelling, Erythema |
ORPHA:829 |
Poikiloderma With Neutropenia |
|
Long philtrum, Skin rash, Plantar hyperkeratosis, Elevated circulating creatine kinase concentrat... |
OMIM:604173 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Hyperactivity, Long philtrum, Wide mouth, Deep philtrum, Everted lower lip vermilion, Downturned ... |
OMIM:619720 |
Hennekam-Beemer Syndrome |
|
Skin vesicle, Thickened skin, Erythema, Telangiectasia of the skin, Pruritus, Urticaria |
ORPHA:2135 |
Noonan Syndrome 5 |
|
Polyhydramnios, Dry skin |
OMIM:611553 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis, Skin ulcer, Abnormality of the dentition |
ORPHA:1806 |
Developmental And Epileptic Encephalopathy 66 |
|
Macrodontia of permanent maxillary central incisor, Wide mouth, Widely spaced teeth, Everted lowe... |
OMIM:618067 |
Pachyonychia Congenita 3 |
|
Gingivitis, Plantar hyperkeratosis, Palmar hyperkeratosis, Oral leukoplakia, Furrowed tongue, Pal... |
OMIM:615726 |
Corneodermatoosseous Syndrome |
|
Palmoplantar keratoderma, Thickened skin, Erythema |
ORPHA:3194 |
Hengel-Maroofian-Schols Syndrome |
|
Tooth malposition, Widely spaced teeth, Short philtrum, Everted lower lip vermilion, Open mouth, ... |
OMIM:619641 |
Cranioectodermal Dysplasia |
|
Microdontia, Hypodontia, Taurodontia, Everted lower lip vermilion, Abnormality of the dentition, ... |
ORPHA:1515 |
Tetrasomy 12P |
|
Thick upper lip vermilion, Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion,... |
ORPHA:884 |
Rheumatic Fever |
|
Gait disturbance, Erythema, Pallor |
ORPHA:3099 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Dry skin |
OMIM:300860 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Hyperactivity, Long philtrum, Wide mouth, Thick lower lip vermilion, Everted lower lip vermilion,... |
OMIM:620075 |
Ataxia-Telangiectasia |
|
Mucosal telangiectasiae, Premature graying of hair, Gait disturbance, Ataxia, Telangiectasia of t... |
ORPHA:100 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Everted lower lip vermilion, Abnormal spaced incisors, Short philtrum, Thick vermilion border |
ORPHA:411986 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Striae distensae, Hyperextensible skin, Petechiae |
OMIM:225310 |
Spinocerebellar Ataxia 34 |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Epidermal hyperkeratosis, Ataxia, Erythroderma |
OMIM:133190 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Generalized abnormality of skin, Recurrent skin infections,... |
ORPHA:94059 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Long philtrum |
OMIM:615225 |
Netherton Syndrome |
|
Hypernatremic dehydration, Congenital nonbullous ichthyosiform erythroderma, Parakeratosis, Eryth... |
OMIM:256500 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Premature graying of hair, Premature skin wrinkling, Scleroderma, Hypercholesterolemia, Hypertrig... |
ORPHA:363618 |
Ameloonychohypohidrotic Syndrome |
|
Dry skin, Seborrheic dermatitis |
OMIM:104570 |
Tempi Syndrome |
|
Facial erythema, Ascites, Telangiectasia, Transudative pleural effusion |
ORPHA:284227 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Skin rash, Stomatitis, Pustule, Joint swelling, Elevated circulating C-reactive protein concentra... |
OMIM:612852 |
Jung Syndrome |
|
Dry skin |
ORPHA:2321 |
Atkin-Flaitz Syndrome |
|
Everted lower lip vermilion, Abnormality of the dentition, Maxillary lateral incisor microdontia,... |
ORPHA:1193 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Attention deficit hyperactivity disorder, Hypercholesterolemia, Prolonged neonatal jaundice, Leth... |
ORPHA:90674 |
Pituitary Adenoma 4, Acth-Secreting |
|
Facial erythema, Striae distensae, Purpura, Bruising susceptibility, Ecchymosis, Edema, Poor woun... |
OMIM:219090 |
Toxic Epidermal Necrolysis |
|
Skin ulcer, Erythema, Dysphagia, Acantholysis, Polydipsia |
ORPHA:537 |
Fg Syndrome Type 1 |
|
Attention deficit hyperactivity disorder, Broad-based gait, Umbilical hernia, Facial wrinkling |
ORPHA:93932 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Everted lower lip vermilion, Microdontia, Everted upper lip vermilion, Delayed eruption of teeth |
ORPHA:181 |
Acrodermatitis Enteropathica |
|
Skin ulcer, Pustule, Generalized abnormality of skin, Erythema, Dry skin |
ORPHA:37 |
Xfe Progeroid Syndrome |
|
Cutaneous photosensitivity, Death in adolescence, Ascites, Prematurely aged appearance, Dry skin |
OMIM:610965 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Perianal erythema, Ectodermal dysplasia, Neonatal death, Hydromyelia, Death in infancy, Ichthyosi... |
OMIM:308205 |
Sialidosis Type 1 |
|
Vascular skin abnormality, Hyperkeratosis, Gait disturbance, Ataxia |
ORPHA:812 |
Familial Cervical Artery Dissection |
|
Abnormal circulating lipid concentration, Striae distensae |
ORPHA:36382 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal translucency, Lymphedema, Nonimmune hydrops fetalis, Epidermal hyperkeratosis, Palpebral e... |
OMIM:137940 |
Koolen-De Vries Syndrome |
|
Ichthyosis, Narrow palate, Microdontia, Hypodontia, Everted lower lip vermilion, Overfriendliness... |
ORPHA:96169 |
Stuve-Wiedemann Syndrome 1 |
|
Oligohydramnios, Premature skin wrinkling, Death in infancy, Dysphagia |
OMIM:601559 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Striae distensae, Increased circulating cortisol level, Agitation, Primary hypercortisolism, Para... |
OMIM:610475 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Palmoplantar keratoderma, Hyperkeratotic papule, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Microscopic Polyangiitis |
|
Subcutaneous hemorrhage, Skin rash, Skin ulcer, Cutis marmorata, Erythema |
ORPHA:727 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Everted lower lip vermilion, Ichthyosis |
OMIM:242510 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Everted lower lip vermilion, Thin upper lip vermilion, Downturned corners of mouth, Long philtrum |
OMIM:615162 |
Immunodeficiency 23 |
|
Eczema, Chronic mucocutaneous candidiasis, Vasculitis in the skin, Ataxia, Erythema, Molluscum co... |
OMIM:615816 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Enamel hypoplasia, Skin vesicle, Hyperkeratotic papule, Pruritus, Oral mucosal blisters, Carious ... |
ORPHA:79410 |
Donohue Syndrome |
|
Wide mouth, Thick lower lip vermilion, Acanthosis nigricans, Hyperkeratosis, Gingival overgrowth |
OMIM:246200 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Redundant skin, Increased number of skin folds, Cutis laxa |
ORPHA:436274 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Everted lower lip vermilion |
OMIM:249670 |
Thanatophoric Dysplasia Type 1 |
|
Polyhydramnios, Redundant skin, Acanthosis nigricans, Increased nuchal translucency, Excessive wr... |
ORPHA:1860 |
Kleefstra Syndrome 2 |
|
Everted lower lip vermilion, Bifid uvula |
OMIM:617768 |
Alg11-Cdg |
|
Dry skin, Ataxia |
ORPHA:280071 |
Non-Distal Trisomy 13Q |
|
High palate, Long philtrum, Everted lower lip vermilion, Thin vermilion border, Abnormality of th... |
ORPHA:1702 |
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
Long philtrum, Short philtrum, Everted lower lip vermilion, High, narrow palate, Thick vermilion ... |
OMIM:619880 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Progeroid facial appearance, Intrauterine growth retardation |
ORPHA:50811 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Facial erythema |
OMIM:618307 |
Progeroid Syndrome, Petty Type |
|
Cutis laxa, Reduced subcutaneous adipose tissue, Redundant skin, Prematurely aged appearance, Int... |
ORPHA:2963 |
Neonatal Lupus Erythematosus |
|
Malar rash, Skin rash, Parakeratosis, Hyperkeratosis, Maculopapular exanthema |
ORPHA:398124 |
Williams-Beuren Syndrome (WBS) |
|
Everted lower lip vermilion, Microdontia |
DECIPHER:3 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
High palate, Long philtrum, Thick lower lip vermilion, Everted lower lip vermilion, Thin upper li... |
OMIM:220500 |
Xq12-Q13.3 Duplication Syndrome |
|
Bulimia, Eczema, Agitation, Elevated circulating creatine kinase concentration, Everted lower lip... |
ORPHA:314389 |
Juvenile Idiopathic Arthritis |
|
Thickened skin, Pericardial effusion, Skin rash, Joint swelling, Generalized hyperkeratosis, Psor... |
ORPHA:92 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
High palate, Decreased circulating plasmalogen concentration, Submucous cleft hard palate |
OMIM:222765 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cutis laxa, Dermal translucency, Prominent superficial veins, Athetosis, Intrauterine growth reta... |
OMIM:614438 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Erythema, Erythroderma, Angioedema |
ORPHA:139402 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Ataxia, Dry skin, Intrauterine growth retardation, Premature graying of hair |
OMIM:613990 |
Coffin-Lowry Syndrome |
|
Narrow palate, High palate, Wide mouth, Delayed eruption of teeth, Widely spaced teeth, Thick low... |
ORPHA:192 |
Nizon-Isidor Syndrome |
|
Short philtrum, Everted lower lip vermilion, Thin upper lip vermilion, Downturned corners of mout... |
OMIM:618872 |
Nodular Non-Suppurative Panniculitis |
|
Edema, Erythema |
ORPHA:33577 |
Diencephalic Syndrome |
|
Everted lower lip vermilion |
ORPHA:1672 |
Incontinentia Pigmenti |
|
Hyperkeratosis, Maculopapular exanthema, Erythema, Pallor |
OMIM:308300 |
Lig4 Syndrome |
|
Cutaneous photosensitivity, Erythema, Telangiectasia of the skin |
ORPHA:99812 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Everted lower lip vermilion, Thin upper lip vermilion, Long philtrum |
ORPHA:357175 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Fragile skin, Erythema, Recurrent skin infections, Palmoplantar keratoderma, Generalized abnormal... |
ORPHA:79396 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Abnormality of dental morphology, Palmoplantar keratoderma, Scaling skin, Abnormal tongue morphol... |
ORPHA:158668 |
Aicardi-Goutieres Syndrome 9 |
|
Pericardial effusion, Chilblains, Edema, Intrauterine growth retardation, Ascites, Dry skin |
OMIM:619487 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Everted lower lip vermilion, Thin upper lip vermilion, High palate, Long philtrum |
OMIM:616549 |
19Q13.11 Microdeletion Syndrome |
|
Dry skin, Intrauterine growth retardation |
ORPHA:217346 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
High palate, Short philtrum, Everted lower lip vermilion, Thin upper lip vermilion, Overfriendlin... |
OMIM:616579 |
Bone Marrow Failure Syndrome 3 |
|
Enamel hypoplasia, Hyperactivity, Microdontia, Hypodontia, Eczema, Amelogenesis imperfecta, Hyper... |
OMIM:617052 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
High palate, Short philtrum, Everted lower lip vermilion, Thin upper lip vermilion, Thin vermilio... |
ORPHA:3041 |
Ifap Syndrome 2 |
|
Ichthyosis follicularis, Perioral erythema |
OMIM:619016 |
Kindler Epidermolysis Bullosa |
|
Cutaneous photosensitivity, Hyperkeratosis, Erythema, Dysphagia, Recurrent skin infections, Palmo... |
ORPHA:2908 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Abnormal circulating creatine kinase concentration, Hypertriglyceridemia, Eclabion, Congenital no... |
ORPHA:98907 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Dry skin, Intrauterine growth retardation |
OMIM:613026 |
9P13 Microdeletion Syndrome |
|
Attention deficit hyperactivity disorder, Dry skin, Umbilical hernia |
ORPHA:324313 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Pierre-Robin sequence, Everted upper lip vermilion, Wide mouth, Deep philtrum, Short philtrum, Th... |
OMIM:618381 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Polyhydramnios, Gait disturbance, Dry skin |
ORPHA:1812 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Ichthyosis, Microdontia, Oral leukoplakia, Furrowed tongue, ... |
OMIM:148210 |
Stevens-Johnson Syndrome |
|
Acantholysis, Erythema, Dysphagia |
ORPHA:36426 |
Melanocytic Nevus Syndrome, Congenital |
|
Everted lower lip vermilion, Open mouth, Long philtrum, Deep philtrum |
OMIM:137550 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Cutaneous photosensitivity, Gait ataxia, Ichthyosis, Eczema,... |
ORPHA:33364 |
Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
Hoyeraal-Hreidarsson Syndrome |
|
Ataxia, Intrauterine growth retardation, Premature graying of hair, Excessive wrinkled skin |
ORPHA:3322 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Agitation, Primary hypercortisolism, Striae distensae, Increased circulating cortisol level |
OMIM:219080 |
Pearson Marrow-Pancreas Syndrome |
|
Hydrops fetalis, Steatorrhea, Pallor, Erythema, Dehydration, Lethargy, Death in childhood |
OMIM:557000 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Edema, Erythema |
OMIM:619183 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Prolonged neonatal jaundice, Lethargy, Dry skin |
ORPHA:99832 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Pica, Hyperactivity, Widely spaced teeth, Advanced eruption of teeth, Everted lower lip vermilion... |
OMIM:617865 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis |
ORPHA:1809 |
Chime Syndrome |
|
Ichthyosis, Microdontia, Abnormality of dental morphology, Skin ulcer, Hypodontia, Supernumerary ... |
ORPHA:3474 |
Proximal Xq28 Duplication Syndrome |
|
Everted lower lip vermilion, Tented upper lip vermilion |
ORPHA:1762 |
Ververi-Brady Syndrome |
|
High palate, Wide mouth, Mildly elevated creatine kinase, Everted lower lip vermilion, Thin upper... |
OMIM:617982 |
Rapp-Hodgkin Syndrome |
|
Palmoplantar keratoderma, Dry skin, Anhidrotic ectodermal dysplasia |
OMIM:129400 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Hyperextensible skin, Cleft soft palate, Wide mouth, Widely spaced teeth, Deep philtrum, Microdon... |
OMIM:619950 |
Braddock-Carey Syndrome 1 |
|
Enamel hypoplasia, Pierre-Robin sequence, Everted lower lip vermilion, U-Shaped upper lip vermili... |
OMIM:619980 |
Hydroxykynureninuria |
|
Dry skin |
ORPHA:79155 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Scaling skin, Pustule, Generalized abnormality of skin, Eryt... |
ORPHA:294023 |
Noonan Syndrome 14 |
|
Polyhydramnios, Dry skin, Bruising susceptibility |
OMIM:619745 |
Chikungunya |
|
Pedal edema, Skin vesicle, Cutaneous photosensitivity, Petechiae, Crusting erythematous dermatiti... |
ORPHA:324625 |
Scholte Syndrome |
|
Everted lower lip vermilion |
OMIM:300977 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Xerostomia, Ectodermal dysplasia, Periorbital wrinkles, Dry skin |
OMIM:614941 |
Fontaine Progeroid Syndrome |
|
Dermal translucency, Death in infancy, Reduced subcutaneous adipose tissue, Premature skin wrinkl... |
OMIM:612289 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Redundant skin, Intrauterine growth retardation, Cutis laxa, Excessive wrinkled skin |
OMIM:219200 |
Lethal Acantholytic Erosive Disorder |
|
Acantholysis, Cleft palate, Natal tooth, Oligohydramnios |
ORPHA:158687 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Striae distensae, Increased circulating cortisol level, Agitation, Primary hypercortisolism, Para... |
OMIM:610489 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Everted lower lip vermilion, Elevated circulating creatine kinase concentration |
OMIM:300280 |
Rabson-Mendenhall Syndrome |
|
Premature graying of hair, Reduced subcutaneous adipose tissue, Acanthosis nigricans, Intrauterin... |
ORPHA:769 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Erythema |
OMIM:614878 |
Mass Syndrome |
|
Striae distensae |
OMIM:604308 |
Koolen-De Vries Syndrome |
|
Hyperactivity, Eczema, Impulsivity, Intrauterine growth retardation, Dry skin |
OMIM:610443 |
Septo-Optic Dysplasia Spectrum |
|
Dry skin, Polydipsia |
ORPHA:3157 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
High palate, Pierre-Robin sequence, Long philtrum, Everted lower lip vermilion, Thin upper lip ve... |
OMIM:617877 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Lymphedema, Telangiectasia of the oral mucosa, Lip telangiectasia, Hyperkeratosis, Thick vermilio... |
ORPHA:79280 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Dry skin |
OMIM:618797 |
Tooth Agenesis, Selective, 4 |
|
Palmar hyperkeratosis, Dry skin |
OMIM:150400 |
Barber-Say Syndrome |
|
Redundant skin, Premature skin wrinkling, Dry skin, Dermal translucency |
OMIM:209885 |
Kid Syndrome |
|
Recurrent bacterial skin infections, Recurrent cutaneous fungal infections, Gingivitis, Angular c... |
ORPHA:477 |
Axenfeld-Rieger Syndrome |
|
Everted lower lip vermilion, Redundant skin, Hypodontia, Microdontia |
ORPHA:782 |
Autosomal Dominant Cutis Laxa |
|
Cutis laxa, Dermal translucency, Premature skin wrinkling, Redundant neck skin, Redundant skin, P... |
ORPHA:90348 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Dry skin, Attention deficit hyperactivity disorder, Intrauterine growth retardation |
ORPHA:2637 |
Noonan Syndrome 10 |
|
Hyperextensible skin, Palmoplantar cutis laxa, High palate, Pleural effusion, Hyperkeratosis, Inc... |
OMIM:616564 |
Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:28378 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Hyperaldosteronism, Striae distensae, Increased circulating cortisol level, Paradoxical increased... |
ORPHA:189427 |
Focal Facial Dermal Dysplasia Type Iii |
|
Redundant skin, Prematurely aged appearance |
ORPHA:1807 |
Char Syndrome |
|
No permanent dentition, Short philtrum, Everted lower lip vermilion, Persistence of primary teeth... |
ORPHA:46627 |
Gcgr-Related Hyperglucagonemia |
|
Necrolytic migratory erythema |
ORPHA:438274 |
Naxos Disease |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Subungual hyperkeratosis, Acantholysis, Palm... |
OMIM:601214 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Everted lower lip vermilion, Open mouth, Macroglossia, Wide mouth |
OMIM:616789 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Cutis laxa, Abnormal subcutaneous fat tissue distribution, Redundant neck skin, Redundant skin, I... |
ORPHA:357074 |
Megalocornea-Intellectual Disability Syndrome |
|
High palate, Short philtrum, Everted lower lip vermilion, Hypercholesterolemia, Open mouth |
ORPHA:2479 |
Fucosidosis |
|
Angiokeratoma, Dry skin, Spastic gait |
OMIM:230000 |
Rothmund-Thomson Syndrome Type 2 |
|
Facial erythema, Porokeratosis, Plantar hyperkeratosis, Erythema, Facial edema |
ORPHA:221016 |
De Barsy Syndrome |
|
Cutis laxa, Dermal translucency, Progeroid facial appearance, Intrauterine growth retardation, Pr... |
ORPHA:2962 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin |
ORPHA:137608 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Hyperkeratosis, Ichthyosis, Abnormal dental enamel morphology |
ORPHA:1005 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Dry skin, Hypohidrotic ectodermal dysplasia |
OMIM:614940 |
Adrenocortical Carcinoma |
|
Hyperaldosteronism, Striae distensae, Increased circulating cortisol level, Paradoxical increased... |
ORPHA:1501 |
Noonan Syndrome 2 |
|
Polyhydramnios, Hyperextensible skin, High palate, Palmoplantar cutis laxa, Hyperkeratosis, Incre... |
OMIM:605275 |
Ullrich Congenital Muscular Dystrophy 1 |
|
High palate, Follicular hyperkeratosis, Mildly elevated creatine kinase |
OMIM:254090 |
Oculocerebrorenal Syndrome Of Lowe |
|
Gingivitis, Delayed eruption of teeth, Skin ulcer, Taurodontia, Everted lower lip vermilion, Toot... |
ORPHA:534 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Wide mouth, Everted upper lip vermilion, Widely spaced teeth, Oligohydramnios |
OMIM:619056 |
Rothmund-Thomson Syndrome Type 1 |
|
Facial erythema, Telangiectasia, Porokeratosis, Plantar hyperkeratosis, Attention deficit hyperac... |
ORPHA:221008 |
Dubowitz Syndrome |
|
Cutaneous photosensitivity, Cutis marmorata, Eczema, Spina bifida occulta, Attention deficit hype... |
ORPHA:235 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Lack of skin elasticity, Redundant skin, Cutis laxa |
ORPHA:90349 |
Keppen-Lubinsky Syndrome |
|
Polyhydramnios, Progeroid facial appearance, Premature skin wrinkling |
ORPHA:435628 |
Helix Syndrome |
|
Xerostomia, Dry skin, Polydipsia |
OMIM:617671 |
Wiedemann-Rautenstrauch Syndrome |
|
Truncal ataxia, Reduced subcutaneous adipose tissue, Premature skin wrinkling, Prominent scalp ve... |
OMIM:264090 |
Cockayne Syndrome |
|
Cutaneous photosensitivity, Malar rash, Inability to walk, Progressive gait ataxia, Reduced subcu... |
ORPHA:191 |
Wagr Syndrome |
|
Everted lower lip vermilion |
ORPHA:893 |
Dermatomyositis |
|
Cutaneous photosensitivity, Skin ulcer, Acrocyanosis, Periorbital edema, Edema, Erythema, Telangi... |
ORPHA:221 |
Adult Syndrome |
|
Cutaneous photosensitivity, Ectodermal dysplasia, Dry skin, Eczema |
OMIM:103285 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Gait ataxia, Cutaneous photosensitivity, Cutis marmorata, Broad-based gait, Progeroid facial appe... |
OMIM:300953 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dry skin |
OMIM:619244 |
Hutchinson-Gilford Progeria Syndrome |
|
Lack of skin elasticity, High palate, Delayed eruption of teeth, Short lingual frenulum, Hypodont... |
ORPHA:740 |
Ogden Syndrome |
|
Cutis laxa, Minimal subcutaneous fat, Lymphedema, Pulmonary edema, Jaundice, Eczema, Redundant ne... |
OMIM:300855 |
Riddle Syndrome |
|
Telangiectasia, Gait disturbance, Ataxia, Scaling skin, Conjunctival telangiectasia, Erythema |
ORPHA:420741 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Macroglossia, Everted lower lip vermilion, Palpebral edema, Smooth philtrum, Tented upper lip ver... |
ORPHA:261144 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Conical tooth, Everted upper lip vermilion, Microdontia, Hypodontia, Taurodontia, Eczema, Everted... |
OMIM:305100 |
Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Atopic dermatitis, Dental malocclusion, Ichthyosis, High palate, Deep philtrum, S... |
OMIM:115150 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Polyhydramnios, Hyperactivity, Hyperextensible skin, Ichthyosis, High palate, Eczema, Attention d... |
OMIM:607721 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, Short philtrum, Downturned corners of mouth, Dysphagia |
OMIM:615510 |
Heart And Brain Malformation Syndrome |
|
Polyhydramnios, Thick lower lip vermilion, Everted lower lip vermilion, Cleft lip, High, narrow p... |
OMIM:616920 |
Warburg-Cinotti Syndrome |
|
Poor wound healing, Follicular hyperkeratosis, Joint swelling, Erythema |
OMIM:618175 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa |
ORPHA:91135 |
Opitz-Kaveggia Syndrome |
|
Attention deficit hyperactivity disorder, Umbilical hernia, Facial wrinkling |
OMIM:305450 |
Late-Onset Isolated Acth Deficiency |
|
Lethargy, Decreased circulating cortisol level, Dry skin |
ORPHA:199299 |
Mandibulofacial Dysostosis With Alopecia |
|
Delayed eruption of primary teeth, Dental crowding, Everted lower lip vermilion, Cleft palate, Gl... |
OMIM:616367 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Pierre-Robin sequence, Oligodontia, Oligohydramnios, Everted lower lip vermilion, Tented upper li... |
ORPHA:364577 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Localized Scleroderma |
|
Thickened skin, Erythema |
ORPHA:90289 |
Branchio-Oculo-Facial Syndrome |
|
Non-midline cleft lip, High palate, Upper lip pit, Deep philtrum, Microdontia, Everted lower lip ... |
ORPHA:1297 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Wide mouth, Widely spaced teeth, Microdontia, Macroglossia, Everted lower lip vermilion, Thin upp... |
OMIM:156200 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Wide mouth, Diastema, Everted lower lip vermilion, Protruding tongue, Thin vermilion border, Open... |
OMIM:212066 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
High palate, Long philtrum, Everted lower lip vermilion, Thin upper lip vermilion, Attention defi... |
OMIM:612513 |
Microcephaly-Deafness-Intellectual Disability Syndrome |
|
Everted lower lip vermilion, Abnormal palate morphology |
ORPHA:2533 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Thickened skin, Lymphedema, Skin ulcer, Erysipelas, Pleural effusion, Scaling skin, Edema, Chylot... |
ORPHA:2526 |
Hallermann-Streiff Syndrome |
|
Hyperactivity, Telangiectasia, Spina bifida, Choreoathetosis, Dry skin |
OMIM:234100 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance |
OMIM:227260 |
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy |
|
Dry skin |
ORPHA:457059 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Bruising susceptibility, Prominent superficial veins, Redundant skin, Prematurely aged appearance... |
OMIM:618000 |
Acrocallosal Syndrome |
|
Everted upper lip vermilion, Bifid uvula, Abnormal oral frenulum morphology, Smooth philtrum, Cle... |
OMIM:200990 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Soft skin, Striae distensae, Hyperextensible skin |
OMIM:606408 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Dry skin |
ORPHA:261323 |
Wiedemann-Rautenstrauch Syndrome |
|
Dermal translucency, Truncal ataxia, Reduced subcutaneous adipose tissue, Premature skin wrinklin... |
ORPHA:3455 |
Cockayne Syndrome B |
|
Cutaneous photosensitivity, Reduced subcutaneous adipose tissue, Ataxia, Progeroid facial appeara... |
OMIM:133540 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Striae distensae, Increased circulating cortisol level, Paradoxical increased cortisol secretion ... |
ORPHA:189439 |
Eec Syndrome |
|
Xerostomia, Hyperkeratosis, Dry skin |
ORPHA:1896 |
2P15P16.1 Microdeletion Syndrome |
|
Polyhydramnios, High palate, Long philtrum, Everted lower lip vermilion, Narrow mouth, Attention ... |
ORPHA:261349 |
Chanarin-Dorfman Syndrome |
|
Everted lower lip vermilion, Congenital nonbullous ichthyosiform erythroderma |
OMIM:275630 |
X-Linked Intellectual Disability, Shashi Type |
|
Everted lower lip vermilion, Palpebral edema |
ORPHA:85286 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Ataxia, Inability to walk, Dry skin, Eczema |
OMIM:617799 |
Laron Syndrome |
|
Prematurely aged appearance, Hypercholesterolemia |
ORPHA:633 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Palmoplantar cutis laxa, Bruising susceptibility, Poor wound healing, Follicular hyperkeratosis, ... |
OMIM:225400 |
Acquired Partial Lipodystrophy |
|
Progeroid facial appearance |
ORPHA:79087 |
Gapo Syndrome |
|
Hyperextensible skin, Long philtrum, Delayed eruption of teeth, Everted lower lip vermilion, Abno... |
ORPHA:2067 |
Familial Tumoral Calcinosis |
|
Skin rash, Erythema |
ORPHA:53715 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Dental malocclusion, Wide mouth, Thick lower lip vermilion, Everted lower lip vermilion, Abnormal... |
ORPHA:85321 |
Cockayne Syndrome A |
|
Cutaneous photosensitivity, Reduced subcutaneous adipose tissue, Gait disturbance, Ataxia, Proger... |
OMIM:216400 |
Premature Aging Syndrome, Penttinen Type |
|
Thickened skin, Delayed eruption of teeth, Narrow philtrum, Corneal stromal edema, Palmoplantar h... |
OMIM:601812 |
Menkes Disease |
|
Thickened skin, Dry skin, Intrauterine growth retardation, Prolonged neonatal jaundice, Spontaneo... |
ORPHA:565 |
Fryns-Smeets-Thiry Syndrome |
|
Wide mouth, Thick lower lip vermilion, Short philtrum, Everted lower lip vermilion, Downturned co... |
ORPHA:2058 |
Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis |
ORPHA:2583 |
Bethlem Myopathy |
|
Hyperkeratosis, Elevated circulating creatine kinase concentration |
ORPHA:610 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Jaundice, Intrauterine growth retardation, Death in infancy, Excessive wrinkled skin |
OMIM:608779 |
Kikuchi-Fujimoto Disease |
|
Cutaneous photosensitivity, Malar rash, Skin rash, Vasculitis in the skin, Ataxia, Pleural effusi... |
ORPHA:50918 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Everted lower lip vermilion, Upper eyelid edema |
OMIM:616819 |
Scleromyxedema |
|
Sclerodactyly, Thickened skin, Dysphagia, Pruritus, Generalized abnormality of skin, Aged leonine... |
ORPHA:167635 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance, Intrauterine growth retardation |
OMIM:608154 |
Tatton-Brown-Rahman Syndrome |
|
Thin vermilion border, Exaggerated cupid's bow, Everted upper lip vermilion, Deep philtrum |
OMIM:615879 |
Acrofrontofacionasal Dysostosis |
|
Everted lower lip vermilion, Non-midline cleft lip, High palate, Cleft palate |
ORPHA:1784 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
High palate, Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Furrowed to... |
OMIM:616449 |
Bainbridge-Ropers Syndrome |
|
Polyhydramnios, High palate, Wide mouth, Death in infancy, Everted lower lip vermilion, Thin uppe... |
OMIM:615485 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Ascites, Cutis laxa |
OMIM:301045 |
Malan Syndrome |
|
Everted lower lip vermilion, Advanced eruption of teeth, Narrow mouth, Gingival overgrowth |
OMIM:614753 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Death in infancy, Microdontia, Everted lower lip v... |
ORPHA:570 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Truncal ataxia, Limb ataxia, Gait disturbance, Progeroid facial appearance, Difficulty walking, D... |
ORPHA:412057 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Cutis marmorata |
OMIM:301220 |
Xp21 Deletion Syndrome |
|
Everted lower lip vermilion, Hypertriglyceridemia, Elevated circulating creatine kinase concentra... |
ORPHA:261476 |
Cranioectodermal Dysplasia 3 |
|
Ectodermal dysplasia, Dry skin, Cutis laxa |
OMIM:614099 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Polyhydramnios, Hyperextensible skin, Cleft soft palate, Cutis laxa, Soft skin, Follicular hyperk... |
OMIM:614557 |
Trisomy 20P |
|
Microdontia, Short philtrum, Everted lower lip vermilion, Downturned corners of mouth, Abnormal p... |
ORPHA:261318 |
Loeys-Dietz Syndrome 4 |
|
Striae distensae, High palate, Hyperextensible skin, Bifid uvula, Broad uvula, High, narrow palate |
OMIM:614816 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Progeroid facial appearance, Dry skin |
OMIM:614008 |
Leprechaunism |
|
Hyperaldosteronism, Thickened skin, Hyperextensible skin, Hypokalemia, Increased circulating reni... |
ORPHA:508 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Long philtrum, Thin upper lip vermilion, Eczema, Cutis laxa |
OMIM:619691 |
Trisomy 8Q |
|
Non-midline cleft lip, Bifid tongue, High palate, Abnormal oral frenulum morphology, Everted lowe... |
ORPHA:1752 |
Focal Dermal Hypoplasia |
|
Spina bifida, Erythema, Umbilical hernia, Telangiectasia of the skin |
ORPHA:2092 |
Bloom Syndrome |
|
Facial erythema, Cutaneous photosensitivity, Malar rash, Facial telangiectasia in butterfly midfa... |
OMIM:210900 |
Vipoma |
|
Intermittent jaundice, Increased circulating cortisol level, Erythema, Dehydration, Ascites, Subc... |
ORPHA:97282 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
High palate, Delayed eruption of teeth, Short philtrum, Everted lower lip vermilion, Open mouth, ... |
OMIM:615866 |
Ogden Syndrome |
|
High, narrow palate, Everted upper lip vermilion, Cutis laxa |
ORPHA:276432 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Dry skin, Salt craving |
ORPHA:95409 |
Fucosidosis |
|
Generalized hyperkeratosis, Abnormality of the dentition |
ORPHA:349 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Intrauterine growth retardation, Erythema |
OMIM:614653 |
Melas |
|
Ataxia, Gait disturbance, Erythema |
ORPHA:550 |
Mucopolysaccharidosis, Type Iiic |
|
Everted lower lip vermilion, Hyperactivity, Dysphagia |
OMIM:252930 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Dry skin, Pallor |
ORPHA:91355 |
Behcet Syndrome |
|
Erythema, Erythema nodosum |
OMIM:109650 |
Aicardi-Goutières Syndrome |
|
Arrhinencephaly, Chilblains, Acrocyanosis, Cutis marmorata, Difficulty walking, Prolonged neonata... |
ORPHA:51 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Short philtrum, Everted upper lip vermilion |
OMIM:619824 |
Trisomy 12P |
|
Everted lower lip vermilion, Cleft palate, Downturned corners of mouth |
ORPHA:1699 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Skin rash, Bruising susceptibility, Erysipelas, Erythema, Periorbital edema |
ORPHA:32960 |
Chronic Graft Versus Host Disease |
|
Skin vesicle, Thickened skin, Skin ulcer, Pleural effusion, Morphea, Xerostomia, Erythema, Dyspha... |
ORPHA:99921 |
3Q29 Microdeletion Syndrome |
|
High palate, Short philtrum, Everted lower lip vermilion, Attention deficit hyperactivity disorde... |
ORPHA:65286 |
Marshall-Smith Syndrome |
|
Irregular dentition, High palate, Microdontia, Gingival overgrowth, Short philtrum, Eclabion, Dea... |
OMIM:602535 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
High palate, Everted lower lip vermilion, Protruding tongue, Smooth philtrum, Upper eyelid edema,... |
OMIM:617804 |
Werner Syndrome |
|
Subcutaneous calcification, Scleroderma, Progeroid facial appearance, Prematurely aged appearance... |
OMIM:277700 |
Fetal Hydantoin Syndrome |
|
Everted lower lip vermilion, Cleft palate, Wide mouth |
ORPHA:1912 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Everted lower lip vermilion, Thin upper lip vermilion |
OMIM:617101 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
High palate, Pierre-Robin sequence, Long philtrum, Exaggerated median tongue furrow, Oligodontia,... |
OMIM:608670 |
Prader-Willi Syndrome Due To Translocation |
|
High palate, Wide mouth, Bifid uvula, Oligohydramnios, Everted lower lip vermilion, Thin upper li... |
ORPHA:177907 |
Adult Syndrome |
|
Skin ulcer, Dry skin |
ORPHA:978 |
Blau Syndrome |
|
Ichthyosis, Erythema nodosum, Skin rash, Skin ulcer, Xerostomia, Erythema, Joint swelling, Dry skin |
ORPHA:90340 |
Kleefstra Syndrome 1 |
|
Natal tooth, Macroglossia, Everted lower lip vermilion, Protruding tongue, Persistence of primary... |
OMIM:610253 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Dry skin, Eczema |
ORPHA:508542 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Everted lower lip vermilion, Hyperammonemia, Hyperalaninemia, Dysphagia |
OMIM:615471 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Prolonged neonatal jaundice, Death in infancy, Oligohydramnios, Stillbirth, Intrauterine growth r... |
OMIM:210710 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Premature graying of hair, Erythema nodosum, Progeroid facial appearance, Death in adolescence, E... |
OMIM:256040 |
Scorpion Envenomation |
|
Pulmonary edema, Purpura, Ataxia, Edema, Erythema, Restlessness |
ORPHA:466677 |
Glucagonoma |
|
Intermittent jaundice, Increased circulating cortisol level, Skin rash, Steatorrhea, Ascites, Pru... |
ORPHA:97280 |
Atopic Keratoconjunctivitis |
|
Dry skin |
ORPHA:163934 |
Hamamy Syndrome |
|
Dental malocclusion, Enamel hypoplasia, High palate, Long philtrum, Wide mouth, Hypodontia, Evert... |
OMIM:611174 |
Short Syndrome |
|
Excessive wrinkled skin |
ORPHA:3163 |
8P Inverted Duplication/Deletion Syndrome |
|
Long philtrum, Wide mouth, Abnormality of dental eruption, Everted lower lip vermilion, Impulsivi... |
ORPHA:96092 |
Ablepharon-Macrostomia Syndrome |
|
Redundant skin, Premature skin wrinkling, Dry skin |
OMIM:200110 |
Johnson Neuroectodermal Syndrome |
|
Everted lower lip vermilion, Cleft palate, Carious teeth |
ORPHA:2316 |
Familial Mediterranean Fever |
|
Pedal edema, Skin rash, Erysipelas, Erythema, Ascites |
ORPHA:342 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Dental malocclusion, Thickened skin, Long philtrum, Epidermal thickening, Maxillary lateral incis... |
ORPHA:73223 |
Bainbridge-Ropers Syndrome |
|
Everted lower lip vermilion, Dental crowding, Open mouth, High, narrow palate |
ORPHA:352577 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dry skin |
OMIM:619306 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Facial erythema, Atopic dermatitis, Ichthyosis, Tip-toe gait, Cutis laxa, Falls, Reduced subcutan... |
OMIM:619503 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Everted lower lip vermilion, Long philtrum |
ORPHA:75389 |
Campomelia, Cumming Type |
|
Hydrops fetalis, Death in infancy, Lymphedema, Oligohydramnios, Prematurely aged appearance |
ORPHA:1318 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Hyp... |
ORPHA:79501 |
Tangier Disease |
|
Hypocholesterolemia, Hypertriglyceridemia, Dry skin |
ORPHA:31150 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperactivity, Long philtrum, Wide mouth, Widely spaced teeth, Thick lower lip vermilion, Microdo... |
OMIM:615873 |
Autosomal Dominant Hypocalcemia |
|
Dry skin, Eczema |
ORPHA:428 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Progeroid facial appearance, Cutis laxa |
ORPHA:75496 |
Fabry Disease |
|
Abnormal circulating lipid concentration, Lymphedema, Thick lower lip vermilion, Hyperlipidemia, ... |
ORPHA:324 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Everted lower lip vermilion, Protruding tongue, Smooth philtrum |
ORPHA:324410 |
Mucoepithelial Dysplasia, Hereditary |
|
Furrowed tongue, Follicular hyperkeratosis, Erythematous oral mucosa, Chronic mucocutaneous candi... |
OMIM:158310 |
Reactive Arthritis |
|
Pustule, Hyperkeratosis, Recurrent aphthous stomatitis, Joint swelling |
ORPHA:29207 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Everted lower lip vermilion, Microdontia, Hypodontia, Short philtrum |
OMIM:601499 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Thick lower lip vermilion, Macroglossia, Everted lower lip vermilion, U-Shaped ... |
ORPHA:847 |
Hajdu-Cheney Syndrome |
|
Thickened skin, Skin ulcer, Dry skin, Umbilical hernia |
ORPHA:955 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Advanced eruption of teeth, Macroglossia, Everted lower lip vermilion,... |
ORPHA:261494 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Dry skin, Oligohydramnios |
ORPHA:163956 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Abnormality of subcutaneous fat tissue, Excessive wrinkled skin |
ORPHA:1901 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Lethargy, Dry skin, Umbilical hernia |
OMIM:218700 |
Ablepharon Macrostomia Syndrome |
|
Redundant skin, Dry skin, Umbilical hernia, Excessive wrinkled skin |
ORPHA:920 |
Scheie Syndrome |
|
Everted lower lip vermilion, Wide mouth, Thick vermilion border |
ORPHA:93474 |
Cockayne Syndrome Type 2 |
|
Gait disturbance, Ataxia, Progeroid facial appearance, Difficulty walking, Intrauterine growth re... |
ORPHA:90322 |
Schwartz-Jampel Syndrome |
|
Polyhydramnios, Dental malocclusion, High palate, Long philtrum, Death in infancy, Supernumerary ... |
ORPHA:800 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Hydrops fetalis, High palate, Cutis laxa, Widely spaced teeth, Microdontia, Hyper... |
OMIM:613610 |
3M Syndrome |
|
Everted lower lip vermilion, Abnormal dental enamel morphology, Long philtrum, Delayed eruption o... |
ORPHA:2616 |
Vici Syndrome |
|
Median cleft palate, Cleft upper lip, High palate, Everted upper lip vermilion, Long philtrum, Ch... |
OMIM:242840 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Ichthyosis, Abnormality of dental morphology, Eczema, Everted lower lip vermilion, Attention defi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Ichthyosis, Abnormality of dental morphology, Eczema, Everted lower lip vermilion, Attention defi... |
ORPHA:363958 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Ichthyosis, Eczema, Erythema, Hyperkeratosis, Urticaria |
ORPHA:2273 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Scaling skin, Dry skin |
OMIM:618419 |
Scalp-Ear-Nipple Syndrome |
|
Cutaneous photosensitivity, Thickened skin, Palpebral edema, Dry skin |
OMIM:181270 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Furrowed tongue, Cleft p... |
ORPHA:464738 |
Ramon Syndrome |
|
Hyperkeratosis, Gingival fibromatosis, Narrow palate, Delayed eruption of teeth |
OMIM:266270 |
Addison Disease |
|
Decreased circulating cortisol level, Dry skin, Salt craving |
ORPHA:85138 |
De Sanctis-Cacchione Syndrome |
|
Cutaneous photosensitivity, Telangiectasia, Choreoathetosis, Ataxia, Parakeratosis, Scissor gait |
OMIM:278800 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Hyperextensible skin, High palate, Long philtrum, Wide mouth, Deep philtrum, Everted lower lip ve... |
ORPHA:1974 |
Congenital Non-Bullous Ichthyosiform Erythroderma |
|
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Pruritus |
ORPHA:79394 |
Fibromuscular Dysplasia, Multifocal |
|
Striae distensae, High palate, Hyperextensible skin, Dermal translucency, Soft, doughy skin, Soft... |
OMIM:619329 |
Cushing Disease |
|
Pedal edema, Recurrent cutaneous fungal infections, Striae distensae, Increased circulating corti... |
ORPHA:96253 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Everted lower lip vermilion, Downturned corners of mouth, Protruding tongue, Macroglossia |
ORPHA:96147 |
Wrinkly Skin Syndrome |
|
Palmoplantar cutis laxa, Redundant skin, Progeroid facial appearance, Neonatal wrinkled skin of h... |
OMIM:278250 |
Noonan Syndrome With Multiple Lentigines |
|
Spina bifida occulta, Intrauterine growth retardation, Excessive wrinkled skin |
ORPHA:500 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Progeroid facial appearance, Broad-based gait, Lack of facial subcutaneous fat, Prematurely aged ... |
ORPHA:2959 |
Syndromic Diarrhea |
|
Dry skin, Intrauterine growth retardation |
ORPHA:84064 |
Chand Syndrome |
|
Dry skin, Ataxia |
ORPHA:1401 |
Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Jaundice, Erythema |
ORPHA:913 |
Nablus Mask-Like Facial Syndrome |
|
High palate, Long philtrum, Everted lower lip vermilion, Thin upper lip vermilion, Narrow mouth, ... |
OMIM:608156 |
X-Linked Intellectual Disability, Snyder Type |
|
Cerebral edema, High palate, Thick lower lip vermilion, Dental crowding, Short philtrum, Everted ... |
ORPHA:3063 |
Primary Sjögren Syndrome |
|
Erythema nodosum, Skin ulcer, Purpura, Cutis marmorata, Xerostomia, Dry skin |
ORPHA:289390 |
Hermansky-Pudlak Syndrome |
|
Hyperkeratosis, Thickened skin, Abnormal dental enamel morphology |
ORPHA:79430 |
Geroderma Osteodysplastica |
|
Redundant skin, Prematurely aged appearance |
ORPHA:2078 |
2Q31.1 Microdeletion Syndrome |
|
Long philtrum, Deep philtrum, Everted lower lip vermilion, Downturned corners of mouth, Thin verm... |
ORPHA:251014 |
Bartsocas-Papas Syndrome 1 |
|
Dry skin, Intrauterine growth retardation |
OMIM:263650 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Decreased adipose tissue around neck, Prominent superficial veins, Progeroid facial appearance, D... |
OMIM:608612 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Erythema, Subcutaneous lipoma |
ORPHA:276152 |
Cutis Laxa, Autosomal Dominant 1 |
|
Cutis laxa, Redundant skin, Progeroid facial appearance, Prematurely aged appearance, Poor wound ... |
OMIM:123700 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Cutis laxa |
OMIM:614100 |
Mucopolysaccharidosis Type 1 |
|
Widely spaced teeth, Thick lower lip vermilion, Microdontia, Everted lower lip vermilion, Gingiva... |
ORPHA:579 |
Exercise-Induced Malignant Hyperthermia |
|
Lethargy, Dry skin, Ataxia, Flushing |
ORPHA:466650 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema |
OMIM:118650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Everted lower lip vermilion, Cleft lip, Acanthosis nigricans, Cleft palate, Open mouth, Thick ver... |
OMIM:301066 |
Orofaciodigital Syndrome Type 1 |
|
Dry skin, Ataxia |
ORPHA:2750 |
Nelson Syndrome |
|
Secondary hypercortisolism, Striae distensae, Increased circulating cortisol level |
ORPHA:199244 |
Plague |
|
Erythema nodosum, Skin rash, Skin ulcer, Edema, Dry skin, Unsteady gait, Chapped lip |
ORPHA:707 |
Down Syndrome |
|
Prematurely aged appearance, Gait disturbance, Umbilical hernia |
ORPHA:870 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Short philtrum, Everted upper lip vermilion, Deep philtrum |
OMIM:619951 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Hyperactivity, Bruising susceptibility, Impulsivity, Difficulty walking, Dysphagia, Dry skin |
ORPHA:642 |
Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Dry skin |
ORPHA:69085 |
Hurler Syndrome |
|
Everted lower lip vermilion, Thick vermilion border, Macroglossia, Death in infancy |
ORPHA:93473 |
Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Hyperkeratosis, Lymphedema |
ORPHA:2035 |
Restrictive Dermopathy 1 |
|
Polyhydramnios, Prominent superficial blood vessels, Short umbilical cord, Hydropic placenta, Epi... |
OMIM:275210 |
Alzahrani-Kuwahara Syndrome |
|
Tip-toe gait, Dry skin, Eczema |
OMIM:619268 |
6Q Terminal Deletion Syndrome |
|
Hyperkeratosis, High, narrow palate, Broad philtrum, Thick vermilion border |
ORPHA:75857 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Dry skin, Anhidrotic ectodermal dysplasia |
OMIM:612132 |
Urachal Cyst |
|
Erythema |
ORPHA:488 |
Perlman Syndrome |
|
Polyhydramnios, Everted upper lip vermilion, Edema, Tented upper lip vermilion, Open mouth, Ascit... |
OMIM:267000 |
Goldberg-Shprintzen Syndrome |
|
Everted lower lip vermilion, Oligodontia, Short philtrum, Thick vermilion border |
OMIM:609460 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Bruising susceptibility, Oligohydramnios, Progeroid facial a... |
OMIM:616914 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Skin rash, Oral synechia, Skin ulcer, Oral mucosal blisters... |
ORPHA:95455 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Cutis laxa, Death in infancy, Redundant skin, Progeroid facial appearance, Periorbital edema, Asc... |
OMIM:613177 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Progeroid facial appearance, Hyperlipidemia, Prematurely aged appearance |
ORPHA:90154 |
Relapsing Polychondritis |
|
Purpura, Erythema |
ORPHA:728 |
Arterial Tortuosity Syndrome |
|
Cutis laxa, Bruising susceptibility, Telangiectases of the cheeks, Progeroid facial appearance, U... |
OMIM:208050 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Cleft upper lip, Selective tooth agenesis, Microdontia, Absence of Stensen duct, Oligodontia, Xer... |
OMIM:129900 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Progeroid facial appearance |
OMIM:617763 |
Wrinkly Skin Syndrome |
|
Cutis laxa, Excessive skin wrinkling on dorsum of hands and fingers, Intrauterine growth retardat... |
ORPHA:2834 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Premature graying of hair, Minimal subcutaneous fat, Reduced subcutaneous adipose tissue, Progero... |
ORPHA:280365 |
Kawasaki Disease |
|
Skin rash, Jaundice, Edema, Palmoplantar erythema |
ORPHA:2331 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Cleft upper lip, Selective tooth agenesis, Microdontia, Absence of Stensen duct, Xerostomia, Cari... |
OMIM:604292 |
Noonan Syndrome 1 |
|
Chylothorax, Dry skin, Bruising susceptibility, Lymphedema |
OMIM:163950 |
Leprosy |
|
Penetrating foot ulcers, Acral ulceration, Hyperkeratosis, Steppage gait |
ORPHA:548 |
Van Den Ende-Gupta Syndrome |
|
High palate, Dental crowding, Everted lower lip vermilion, Narrow mouth, Cleft palate, High, narr... |
OMIM:600920 |
Coffin-Lowry Syndrome |
|
Dental malocclusion, Narrow palate, High palate, Cutis laxa, Widely spaced teeth, Thick lower lip... |
OMIM:303600 |
Cranioectodermal Dysplasia 1 |
|
Enamel hypoplasia, High palate, Widely spaced teeth, Microdontia, Hypodontia, Anodontia, Everted ... |
OMIM:218330 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyperkalemia, Everted lower lip vermilion, Polyphagia, Hyperlipidemia, Hyponatremia, Polydipsia |
ORPHA:293987 |
Loeys-Dietz Syndrome 6 |
|
Striae distensae, High palate |
OMIM:619656 |
Saul-Wilson Syndrome |
|
Prominent superficial veins, Progeroid facial appearance, Intrauterine growth retardation |
OMIM:618150 |
Williams Syndrome |
|
Abnormal circulating lipid concentration, Microdontia, Elevated circulating creatine kinase conce... |
ORPHA:904 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Hyperextensible skin, Cutis laxa, Dermal translucency, Soft skin, Cleft palate, Long upper lip |
OMIM:615349 |
Coffin-Siris Syndrome 4 |
|
Everted upper lip vermilion, Long philtrum, Wide mouth, Thick lower lip vermilion, Short philtrum... |
OMIM:614609 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Erythema |
ORPHA:2556 |
Arterial Tortuosity Syndrome |
|
Redundant skin, Prematurely aged appearance, Telangiectasia of the skin |
ORPHA:3342 |
Restrictive Dermopathy |
|
Polyhydramnios, Natal tooth, Dermal translucency, Submucous cleft hard palate, Epidermal hyperker... |
ORPHA:1662 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
High palate, Soft, doughy skin, Hyperextensible skin, Follicular hyperkeratosis |
ORPHA:536545 |
Baller-Gerold Syndrome |
|
Spina bifida occulta, Erythema, Severe intrauterine growth retardation |
OMIM:218600 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Hyperparakeratosis |
ORPHA:276280 |
Acquired Generalized Lipodystrophy |
|
Progeroid facial appearance, Hypertriglyceridemia, Acanthosis nigricans |
ORPHA:79086 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Eczema, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Narrow mouth, Cle... |
ORPHA:83617 |
Cockayne Syndrome Type 1 |
|
Cutaneous photosensitivity, Gait disturbance, Ataxia, Progeroid facial appearance, Difficulty wal... |
ORPHA:90321 |
Marfan Syndrome |
|
Striae distensae, Dental crowding, Attention deficit hyperactivity disorder, Cleft palate, High, ... |
ORPHA:558 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pedal edema, Recurrent cutaneous fungal infections, Striae distensae, Increased circulating corti... |
ORPHA:99889 |
Cerebrotendinous Xanthomatosis |
|
Prematurely aged appearance, Gait disturbance, Agitation, Ataxia, Attention deficit hyperactivity... |
ORPHA:909 |
Duane Retraction Syndrome |
|
Everted lower lip vermilion, Cleft palate |
ORPHA:233 |
Feingold Syndrome 1 |
|
Everted lower lip vermilion, Polyhydramnios, High palate, Thick vermilion border |
OMIM:164280 |
Classical Ehlers-Danlos Syndrome |
|
Blepharochalasis, Striae distensae, Acrocyanosis, Bruising susceptibility, Ecchymosis, Fragile sk... |
ORPHA:287 |
Xeroderma Pigmentosum, Complementation Group B |
|
Cutaneous photosensitivity, Progeroid facial appearance, Ataxia |
OMIM:610651 |
Seckel Syndrome |
|
Prematurely aged appearance, Intrauterine growth retardation |
ORPHA:808 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Polyhydramnios, Long philtrum, Everted lower lip vermilion, Thin upper lip vermilion, Narrow mout... |
ORPHA:459070 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Everted lower lip vermilion, Tented upper lip vermilion, Downturned corners of mouth, High palate |
OMIM:616393 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Fragile skin, Erythema |
OMIM:614748 |
Cowden Syndrome |
|
High palate, Macroglossia, Generalized hyperkeratosis, Furrowed tongue, Palmoplantar keratoderma |
ORPHA:201 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Redundant skin in infancy, Dry skin, Cutis laxa |
OMIM:150230 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Polyhydramnios, Hyperbilirubinemia, Generalized edema, Everted lower lip vermilion, Edema, Increa... |
OMIM:619534 |
Meester-Loeys Syndrome |
|
Bifid uvula, Striae distensae, Gingival overgrowth, High palate |
OMIM:300989 |
Periventricular Nodular Heterotopia 9 |
|
High palate, Everted upper lip vermilion, Attention deficit hyperactivity disorder, Hypoplastic p... |
OMIM:618918 |
Chromosome Xp11.3 Deletion Syndrome |
|
Progeroid facial appearance |
OMIM:300578 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Polyhydramnios, Cutis laxa |
OMIM:270420 |
Marfan Syndrome |
|
High palate, Dental crowding, Striae distensae, Narrow palate |
OMIM:154700 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Redundant skin, Cutis laxa, Oligohydramnios |
OMIM:219100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Everted lower lip vermilion, Pallor, Elevated circulating creatine kinase concentration |
OMIM:253280 |
Specc1L-Related Hypertelorism Syndrome |
|
Long philtrum, Advanced eruption of teeth, Everted lower lip vermilion, Thin vermilion border, Or... |
ORPHA:1519 |
Immunodeficiency 47 |
|
Cutis laxa, Death in infancy, Hypercholesterolemia |
OMIM:300972 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Palmoplantar erythema |
OMIM:612474 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Progeroid facial appearance, Hypertriglyceridemia, Death in childhood, Palmoplantar hyperkeratosis |
OMIM:619127 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Dry skin, Intrauterine growth retardation, Waddling gait |
ORPHA:99646 |
Chromosome 13Q14 Deletion Syndrome |
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Everted lower lip vermilion, Thin upper lip vermilion, High palate, Deep philtrum |
OMIM:613884 |
Lenz-Majewski Hyperostotic Dwarfism |
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Redundant skin, Prematurely aged appearance |
ORPHA:2658 |
Loeys-Dietz Syndrome 2 |
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Striae distensae, Dermal translucency, Bifid uvula, Soft skin, Cleft palate |
OMIM:610168 |
Loeys-Dietz Syndrome |
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Bifid uvula, Striae distensae, High palate, Orofacial cleft |
ORPHA:60030 |
Menke-Hennekam Syndrome 1 |
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High palate, Long philtrum, Everted upper lip vermilion, Deep philtrum, Short philtrum, Agenesis ... |
OMIM:618332 |
Aneurysm-Osteoarthritis Syndrome |
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Dental malocclusion, Striae distensae, High palate, Bifid uvula, Cleft palate |
ORPHA:284984 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Everted upper lip vermilion, Widely spaced teeth, Abnormality of the gingiva, Absent cupid's bow,... |
ORPHA:513456 |
Vascular Ehlers-Danlos Syndrome |
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Dermal translucency, Bruising susceptibility, Redundant skin, Telangiectasia of the skin, Prematu... |
ORPHA:286 |
Carney Complex |
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Striae distensae, Abnormal hard palate morphology, Increased circulating cortisol level, Tongue n... |
ORPHA:1359 |
Loeys-Dietz Syndrome 3 |
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Dental malocclusion, Striae distensae, High palate, Dermal translucency, Bifid uvula, Soft skin, ... |
OMIM:613795 |
Proteus Syndrome |
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Thickened skin, Lymphedema, Tooth agenesis, Generalized hyperkeratosis, Carious teeth, Abnormal d... |
ORPHA:744 |
Mowat-Wilson Syndrome |
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Widely spaced teeth, Thick lower lip vermilion, Delayed eruption of teeth, Gingival overgrowth, B... |
ORPHA:2152 |
Keppen-Lubinsky Syndrome |
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Polyhydramnios, Progeroid facial appearance, Lack of facial subcutaneous fat |
OMIM:614098 |
Pallister-Killian Syndrome |
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Polyhydramnios, Enamel hypoplasia, Long philtrum, Wide mouth, Delayed eruption of teeth, Bifid uv... |
OMIM:601803 |
Branchioskeletogenital Syndrome |
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Blepharochalasis, Periorbital wrinkles, Umbilical hernia |
ORPHA:1299 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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High palate, Cutis laxa, Dermal translucency, Oligohydramnios, Soft skin |
OMIM:614437 |