| 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 |
