| Acral Self-Healing Collodion Baby |
|
Erythema, Localized epidermolytic hyperkeratosis, Lack of skin elasticity, Edema of the dorsum of... |
ORPHA:281127 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Pruritus, Generalized abnormality of skin, Palmoplantar hyperkeratosis, Po... |
ORPHA:737 |
| Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritu... |
ORPHA:498359 |
| Ichthyosis, Cyclic, With Epidermolytic Hyperkeratosis |
|
Congenital bullous ichthyosiform erythroderma, Erythema, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:607602 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Erythema, Hyperkeratosis, Scaling skin |
OMIM:617571 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:617525 |
| Porokeratosis Of Mibelli |
|
Pruritus, Cutaneous photosensitivity, Porokeratosis, Hyperkeratosis |
ORPHA:735 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Erythema, Diffuse palmoplantar hyperkeratosis, Skin ulcer |
ORPHA:2337 |
| Acquired Ichthyosis |
|
Pruritus, Erythema, Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Hyperkeratos... |
ORPHA:454 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Stria... |
ORPHA:64745 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617526 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er... |
ORPHA:87503 |
| Huriez Syndrome |
|
Dry skin, Palmoplantar keratoderma, Lack of skin elasticity, Sclerodactyly |
ORPHA:384 |
| Progressive Symmetric Erythrokeratodermia |
|
Erythema, Palmoplantar keratoderma |
ORPHA:316 |
| Chronic Hiccup |
|
Weight loss, Dehydration, Abnormal eating behavior |
ORPHA:396 |
| Lamellar Ichthyosis |
|
Erythroderma, Pruritus, Lack of skin elasticity, Ichthyosis, Hyperkeratosis, Dry skin, Dehydration |
ORPHA:313 |
| Mastocytosis, Cutaneous |
|
Urticaria, Edema, Erythema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Atopic dermatitis, Dry skin, Erythema, Scaling skin, Nonepidermolytic palmoplantar hyperkeratosis... |
ORPHA:530838 |
| Classic Mycosis Fungoides |
|
Eczema, Pruritus, Edema, Erythema, Skin rash, Hyperkeratosis, Dry skin, Skin ulcer |
ORPHA:2584 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis, Erythema |
ORPHA:79100 |
| Elastoderma |
|
Premature skin wrinkling, Eczema, Cutis laxa, Erysipelas |
ORPHA:228240 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Sclerodactyly, Facial erythema, Hyperkeratosis, Dry skin, Palmoplantar hyperkeratosis |
OMIM:212360 |
| Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Erythema, Palmoplantar keratoderma |
OMIM:617524 |
| Vibratory Urticaria |
|
Urticaria, Flushing, Facial erythema |
OMIM:125630 |
| Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus, Erythema, Reduced subcutaneous adipose tissue, Mo... |
ORPHA:90158 |
| Jessner Lymphocytic Infiltration Of The Skin |
|
Pruritus, Erythema, Cutaneous photosensitivity |
ORPHA:33314 |
| Dermatoleukodystrophy |
|
Progeroid facial appearance, Thickened skin, Premature skin wrinkling |
OMIM:221790 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis |
OMIM:146750 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Fragile skin, Hyperkeratosis |
OMIM:615028 |
| Dermatitis, Atopic |
|
Atopic dermatitis, Eczema, Pruritus, Recurrent skin infections, Ichthyosis, Facial erythema, Dry ... |
OMIM:603165 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Death in infancy, Early cutaneous photosensitivity, Erythema |
OMIM:219095 |
| Cutaneous Collagenous Vasculopathy |
|
Diffuse telangiectasia, Petechiae, Vascular skin abnormality, Pruritus, Erythema, Prominent super... |
ORPHA:280779 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Cutaneous photosensitivity, Hyperkeratosis |
ORPHA:1336 |
| Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Cutaneous photosensitivity, Weight loss, Erythema, Skin rash,... |
ORPHA:317 |
| Cutaneous Mastocytoma |
|
Peau d'orange, Angioedema, Pruritus, Thickened skin, Erythema, Telangiectasia of the skin, Dermat... |
ORPHA:79455 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Familial Cold Urticaria |
|
Polydipsia, Pruritus, Erythema, Urticaria, Dehydration |
ORPHA:47045 |
| Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Ichthyosis, Scaling skin, Excessive wrinkling of palmar skin |
ORPHA:263534 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Erythema, Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform e... |
OMIM:613943 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Cutaneous photosensitivity, Weight loss, Palmoplantar keratoderma, Ichthyosis, Hype... |
ORPHA:312 |
| Mal De Meleda |
|
Perioral erythema, Congenital symmetrical palmoplantar keratosis, Ichthyosis |
OMIM:248300 |
| Dermatofibrosarcoma Protuberans |
|
Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
| Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue |
ORPHA:90160 |
| Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Edema, Erythema, Palmoplantar keratoderma, Ichthyosis |
ORPHA:455 |
| Erythema Nodosum, Familial |
|
Erythema, Erythema nodosum |
OMIM:132990 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617574 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Erythema, Pustule |
ORPHA:222 |
| Quinquaud Folliculitis Decalvans |
|
Erythema, Pustule, Recurrent skin infections |
ORPHA:346 |
| Cutaneous Small Vessel Vasculitis |
|
Erythema, Urticaria, Cutis marmorata, Recurrent skin infections, Purpura, Skin rash |
ORPHA:889 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Erythema, Reduced subcutaneous adipose tissue, Vasculitis i... |
ORPHA:90159 |
| Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss, Palmoplantar keratoderma, Reduced subcutaneous adipose tissue, Thickened s... |
ORPHA:1979 |
| Hypotrichosis 6 |
|
Pruritus, Follicular hyperkeratosis, Erythema |
OMIM:607903 |
| Angioma Serpiginosum |
|
Erythema, Vascular skin abnormality |
ORPHA:95429 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Contact dermatitis, Acne, Follicular hyperkeratosis, Facial erythema, Dry ... |
ORPHA:3406 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:1366 |
| Cole Disease |
|
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615522 |
| Orthostatic Hypotensive Disorder, Streeten Type |
|
Bruising susceptibility, Facial erythema |
OMIM:143850 |
| Maculopapular Cutaneous Mastocytosis |
|
Pruritus, Erythema, Dermatographic urticaria, Generalized abnormality of skin, Darier's sign, Flu... |
ORPHA:79457 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Congenital nonbullous ichthyosiform erythroderma, Erythema, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:606545 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Tongue edema, Pharyngeal edema, Angioedema, Erythema, Facial edema, Palpebral edema, Laryngeal edema |
ORPHA:100057 |
| Sjögren-Larsson Syndrome |
|
Erythema, Urticaria, Ichthyosis, Hyperkeratosis, Dry skin |
ORPHA:816 |
| Anonychia With Flexural Pigmentation |
|
Follicular hyperkeratosis, Macular telangiectasia, Hyperkeratosis |
ORPHA:69125 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Erythema migrans, Pruritus, Parakeratosis, Skin fragility with non-scarring blistering, Skin vesicle |
ORPHA:158681 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Pruritus, Erythema, Palmoplantar keratoderma, Parakeratosis, Ichthyosis, Hyperkeratosis |
OMIM:615821 |
| Reticular Dysgenesis |
|
Failure to thrive, Weight loss, Skin rash, Dehydration, Skin ulcer |
ORPHA:33355 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101850 |
| Transaldolase Deficiency |
|
Telangiectasia, Edema, Premature skin wrinkling, Hydrops fetalis |
ORPHA:101028 |
| Keratolytic Winter Erythema |
|
Erythema, Pustule |
ORPHA:50943 |
| Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Congenital ichthyosiform erythroderma, Hyperkeratosis |
OMIM:270220 |
| Dermatoleukodystrophy |
|
Thickened skin, Hyperkeratosis |
ORPHA:1659 |
| Central Diabetes Insipidus |
|
Polydipsia, Failure to thrive, Weight loss, Dehydration, Lethargy |
ORPHA:178029 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Cutis marmorata, Mala... |
ORPHA:90280 |
| Vulvovaginal Gingival Syndrome |
|
Pruritus, Erythema, Parakeratosis |
ORPHA:83453 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Antisynthetase Syndrome |
|
Dysphagia, Xerostomia, Pruritus, Edema, Telangiectasia of the skin, Lack of skin elasticity, Skin... |
ORPHA:81 |
| Eyebrows, Duplication Of, With Stretchable Skin And Syndactyly |
|
Periorbital wrinkles, Hyperextensible skin of chest, Hyperextensible skin of face |
OMIM:227210 |
| Acrokeratosis Verruciformis |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101900 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Edema, Dehydration, Pustule |
OMIM:616069 |
| Gilbert Syndrome |
|
Dehydration, Jaundice |
OMIM:143500 |
| Autosomal Erythropoietic Protoporphyria |
|
Eczema, Cutaneous photosensitivity, Pruritus, Edema, Erythema |
ORPHA:79278 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Dehydration |
OMIM:601410 |
| Alg8-Cdg |
|
Cutis laxa, Ascites, Small for gestational age, Failure to thrive, Edema, Abnormality of subcutan... |
ORPHA:79325 |
| Keratolytic Winter Erythema |
|
Erythema |
OMIM:148370 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Erythema Of Acral Regions |
|
Erythema |
OMIM:227000 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Recessive X-Linked Ichthyosis |
|
Dry skin, Attention deficit hyperactivity disorder, Ichthyosis, Hyperkeratosis |
ORPHA:461 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Palmar hyperkeratosis, Hyperkeratosis, Skin fragility with non-scarring blistering, Pla... |
ORPHA:79399 |
| Dermatitis Herpetiformis |
|
Eczema, Pruritus, Edema, Erythema, Urticaria, Skin vesicle |
ORPHA:1656 |
| Bullous Impetigo |
|
Erythema, Pustule, Recurrent bacterial skin infections |
ORPHA:36237 |
| Costello Syndrome |
|
Failure to thrive in infancy, Acanthosis nigricans, Polyhydramnios, Lack of skin elasticity, Hype... |
ORPHA:3071 |
| Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Dehydration |
OMIM:614265 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis |
ORPHA:79503 |
| Leri Pleonosteosis |
|
Gait disturbance, Thickened skin, Lack of skin elasticity |
ORPHA:2900 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Weight loss, Erythema, Urticaria |
ORPHA:703 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Erythema, Palmoplantar keratoderma, Hypergranulosis, Congenital nonbullous ichthyosiform erythrod... |
OMIM:242100 |
| Erythema Palmare Hereditarium |
|
Erythema |
OMIM:133000 |
| Benign Chronic Pemphigus |
|
Erythema |
OMIM:169600 |
| Annular Erythema |
|
Erythema |
OMIM:106500 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
| Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Hypergranulosis, Orthokeratotic hyperkeratosis |
OMIM:615598 |
| Drug-Induced Localized Lipodystrophy |
|
Erythema, Reduced subcutaneous adipose tissue |
ORPHA:90157 |
| Protoporphyria, Erythropoietic, 1 |
|
Eczema, Pruritus, Edema, Erythema |
OMIM:177000 |
| Sydenham Chorea |
|
Unsteady gait, Erythema |
ORPHA:306731 |
| Mental Retardation, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Thickened skin, Nonepidermolytic palmoplantar hyperkeratosis, Recurrent bacterial skin infections... |
ORPHA:495 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Failure to thrive, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:89838 |
| Classic Phenylketonuria |
|
Attention deficit hyperactivity disorder, Eczema, Lack of skin elasticity |
ORPHA:79254 |
| Bazex Syndrome |
|
Acanthosis nigricans, Pruritus, Edema, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, S... |
ORPHA:166113 |
| Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Erythema, Acantholysis, Skin vesicle |
ORPHA:2841 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Hypergranulosis, Congenital nonb... |
ORPHA:79395 |
| Baralle-Macken Syndrome |
|
Dystonia, Acanthosis nigricans, Striae distensae, Inability to walk, Obesity |
OMIM:619255 |
| Diarrhea 2, With Microvillus Atrophy |
|
Death in infancy, Dehydration |
OMIM:251850 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Erythema, Scaling skin, Ichthyosis, Hyperkeratosis, Dry skin |
OMIM:614457 |
| Granulomatous Slack Skin |
|
Erythema, Cutis laxa, Redundant skin |
ORPHA:33111 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Dehydration, Lethargy |
ORPHA:28 |
| Primary Erythromelalgia |
|
Pruritus, Erythema |
ORPHA:90026 |
| Xeroderma Pigmentosum, Autosomal Dominant, Mild |
|
Erythema |
OMIM:194400 |
| Netherton Syndrome |
|
Eczema, Acanthosis nigricans, Erythroderma, Urticaria, Congenital nonbullous ichthyosiform erythr... |
ORPHA:634 |
| Familial Cold Autoinflammatory Syndrome 3 |
|
Angioedema, Pruritus, Cold urticaria, Erythema, Dermatographic urticaria |
OMIM:614468 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Telangiectasia, Cutaneous photosensitivity, Palmoplantar keratosis with erythema and scale, Eryth... |
ORPHA:158673 |
| 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 |
| Peeling Skin Syndrome 2 |
|
Scaling skin, Erythema |
OMIM:609796 |
| Mental Retardation, Enteropathy, Deafness, Peripheral Neuropathy, Ichthyosis, And Keratoderma |
|
Erythema, Ichthyosis |
OMIM:609313 |
| Keratosis Pilaris Atrophicans |
|
Erythema |
OMIM:604093 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Dysphagia, Dehydration |
OMIM:618958 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Hyperextensible skin, Excessive skin wrinkling on dorsum of hands and fingers |
OMIM:608763 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Telangiectasia of the skin, Fragile skin, Skin ulcer |
ORPHA:542592 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Stiff Skin Syndrome |
|
Thickened skin, Lack of skin elasticity |
ORPHA:2833 |
| Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Erythema, Pruritus |
OMIM:254400 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Epidermal hyperkeratosis, Palmoplantar erythema, Palmoplantar keratoderma, Plantar hyperkeratosis |
OMIM:104100 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Dry skin, Erythroderma, Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Congenit... |
OMIM:612281 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Parana Hard Skin Syndrome |
|
Thickened skin, Hyperkeratosis |
ORPHA:2812 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Erythroderma, Acantholysis, Pustule, Pruritus, Erythema, Scaling skin, C... |
ORPHA:79481 |
| Peeling Skin Syndrome 1 |
|
Scaling skin, Pruritus, Erythema |
OMIM:270300 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Telangiectasia, Lack of skin elasticity, Scleroderma |
OMIM:615381 |
| Congenital Disorder Of Glycosylation, Type If |
|
Erythroderma, Failure to thrive, Ataxia, Scaling skin, Hyperkeratosis, Dry skin |
OMIM:609180 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Dystonia, Dehydration |
ORPHA:289504 |
| Harlequin Ichthyosis |
|
Erythroderma, Ichthyosis, Hyperkeratosis, Dehydration, Congenital ichthyosiform erythroderma |
ORPHA:457 |
| Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Maculopa... |
ORPHA:79147 |
| Pseudoxanthoma Elasticum |
|
Excessive wrinkled skin, Pruritus, Telangiectasia of the skin, Acne, Striae distensae, Lack of sk... |
ORPHA:758 |
| Hyperchlorhidrosis, Isolated |
|
Failure to thrive, Hypernatremic dehydration, Dehydration |
OMIM:143860 |
| Ehlers-Danlos Syndrome, Classic Type, 2 |
|
Soft, doughy skin, Fragile skin, Hyperextensible skin, Soft skin, Bruising susceptibility |
OMIM:130010 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Facial erythema, Dry skin |
OMIM:308800 |
| Transient Neonatal Diabetes Mellitus |
|
Failure to thrive, Dehydration, Small for gestational age |
ORPHA:99886 |
| Congenital Lethal Erythroderma |
|
Death in infancy, Failure to thrive, Urticaria, Ichthyosis, Dry skin, Congenital exfoliative eryt... |
ORPHA:1954 |
| Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
| Snakebite Envenomation |
|
Ecchymosis, Pseudobulbar paralysis, Angioedema, Edema, Erythema, Neuromuscular dysphagia |
ORPHA:449285 |
| Myoclonic-Astatic Epilepsy |
|
Ataxia, Hyperactivity, Premature skin wrinkling, Unsteady gait, Attention deficit hyperactivity d... |
ORPHA:1942 |
| Psoriasis 2 |
|
Scaling skin, Psoriasiform dermatitis, Hyperkeratosis, Parakeratosis |
OMIM:602723 |
| Ehlers-Danlos Syndrome, Hypermobility Type |
|
Hyperextensible skin, Soft skin, Striae distensae |
OMIM:130020 |
| Cog7-Cdg |
|
Excessive wrinkled skin, Failure to thrive, Small for gestational age, Jaundice |
ORPHA:79333 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Erythroderma, Pustule, Perianal erythema, Failure to thrive, Perioral erythema |
OMIM:614328 |
| Werner Syndrome |
|
Slender build, Telangiectasia of the skin, Subcutaneous calcification, Prematurely aged appearanc... |
ORPHA:902 |
| Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling |
OMIM:601349 |
| Netherton Syndrome |
|
Erythroderma, Angioedema, Failure to thrive, Hypernatremic dehydration, Parakeratosis, Urticaria,... |
OMIM:256500 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Failure to thrive, Ichthyosis, Dehydration, Jaundice |
OMIM:208085 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Perifollicular hyperkeratosis, Pruritus |
ORPHA:505 |
| Complex Regional Pain Syndrome |
|
Dry skin, Edema of the upper limbs, Pedal edema, Erythema |
ORPHA:83452 |
| Hypotrichosis Simplex Of The Scalp |
|
Atopic dermatitis, Pruritus, Parakeratosis, Hyperkeratosis, Scaling skin |
ORPHA:90368 |
| Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lack of facial subcutaneous fat, Erythema, Reduced subcutan... |
ORPHA:90156 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Erythema |
ORPHA:79099 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss, Dehydration, Lethargy |
OMIM:143880 |
| Craniofaciofrontodigital Syndrome |
|
Cutis laxa, Pericardial effusion, Palmoplantar cutis laxa, Edema, Lower eyelid edema, Polyhydramn... |
ORPHA:363705 |
| Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant |
|
Eczematoid dermatitis, Erythema, Skin rash, Chronic mucocutaneous candidiasis |
OMIM:147060 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Dry skin, Cutis laxa, Generalized ichthyosis, Scaling skin, Generalized hyperkeratosis, Unsteady ... |
ORPHA:2269 |
| Ichthyosis Prematurity Syndrome |
|
Erythroderma, Pruritus, Dermatographic urticaria, Polyhydramnios, Follicular hyperkeratosis, Gene... |
OMIM:608649 |
| Peeling Skin Syndrome 4 |
|
Palmoplantar keratoderma, Orthokeratosis, Ichthyosis, Hyperkeratosis, Scaling skin |
OMIM:607936 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Erythema, Pustule, Parakeratosis |
OMIM:614204 |
| Self-Improving Collodion Baby |
|
Ichthyosis |
ORPHA:281122 |
| Acrogeria |
|
Excessive wrinkled skin, Prematurely aged appearance, Telangiectasia of the skin, Skin ulcer |
ORPHA:2500 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis |
OMIM:618339 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Dystonia, Dehydration, Lethargy |
ORPHA:79312 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:616603 |
| Polyarteritis Nodosa |
|
Weight loss, Cutis marmorata, Erythema, Skin ulcer |
ORPHA:767 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Dystonia, Inability to walk, Cerebral edema, Facial erythema, Pallor |
ORPHA:439218 |
| Noonan Syndrome 8 |
|
Eczema, Palmoplantar cutis laxa, Failure to thrive, Polyhydramnios, Large for gestational age, Hy... |
OMIM:615355 |
| Rosaï-Dorfman Disease |
|
Erythema |
ORPHA:158014 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Prolidase Deficiency |
|
Cutaneous photosensitivity, Pruritus, Erythema, Palmoplantar keratoderma, Hyperkeratosis, Dry ski... |
ORPHA:742 |
| Meige Disease |
|
Lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacterial skin infections, Cobb... |
ORPHA:90186 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Striae distensae, Bruising susceptibility, Hyperextensible skin, Petechiae |
OMIM:225310 |
| Rare Cutaneous Lupus Erythematosus |
|
Deep dermal perivascular inflammatory infiltrate, Pustule, Cutaneous photosensitivity, Psoriasifo... |
ORPHA:535 |
| Pachyonychia Congenita 4 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615728 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Progeroid facial appearance, Slender build, Small for gestational age, Failure to thrive |
ORPHA:50811 |
| Epidermolytic Palmoplantar Keratoderma |
|
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di... |
ORPHA:2199 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis, Bruising susceptibility, Hyperextensible skin |
ORPHA:300179 |
| Beta-Ketothiolase Deficiency |
|
Weight loss, Edema, Ataxia, Oral aversion, Pallor, Dehydration |
ORPHA:134 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Ecchymosis, Edema, Striae distensae, Abdominal obesity, Purpura, Facial erythema, Poor wound heal... |
OMIM:219090 |
| Lichen Planus Pemphigoides |
|
Hyperkeratosis, Pruritus, Skin vesicle |
ORPHA:254478 |
| Xfe Progeroid Syndrome |
|
Dry skin, Prematurely aged appearance, Cachexia, Ascites |
OMIM:610965 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... |
OMIM:613736 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Dysphagia, Hyperkeratosis |
OMIM:616029 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Congenital bullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ectodermal dysplasia, P... |
OMIM:613576 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss, Edema, Erythema |
ORPHA:33577 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Ichthyosis, Hyperkeratosis |
OMIM:612379 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss, Edema, Dehydration |
ORPHA:103910 |
| Moynahan Syndrome |
|
Cachexia, Hyperkeratosis |
ORPHA:2574 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Gait imbalance, Steppage gait, Penetrating foot ulcers, Inability to walk, Poor wound healing, Hy... |
ORPHA:36386 |
| Bathing Suit Ichthyosis |
|
Erythroderma, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythroderma, Ic... |
ORPHA:100976 |
| Gaucher Disease, Perinatal Lethal |
|
Dysphagia, Nonimmune hydrops fetalis, Petechiae, Ascites, Neonatal death, Polyhydramnios, Akinesi... |
OMIM:608013 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Eczematoid dermatitis, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Flushing, Re... |
OMIM:259100 |
| Angioedema, Hereditary, 1 |
|
Pharyngeal edema, Intestinal edema, Angioedema, Erythema, Laryngeal edema |
OMIM:106100 |
| Juvenile Dermatomyositis |
|
Dysphagia, Cutaneous photosensitivity, Pruritus, Weight loss, Erythema, Telangiectasia of the ski... |
ORPHA:93672 |
| Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Striae distensae |
OMIM:618793 |
| Ramon Syndrome |
|
Failure to thrive, Telangiectasia of the skin, Hyperkeratosis |
ORPHA:3019 |
| Chronic Mucocutaneous Candidiasis |
|
Pruritus, Erythema, Skin rash, Hyperkeratosis, Skin ulcer |
ORPHA:1334 |
| Cystinosis |
|
Failure to thrive, Gait disturbance, Dehydration, Polydipsia |
ORPHA:213 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Palmoplantar keratoderma, Folliculitis, Facial erythema |
OMIM:612843 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Telangiectasia, Pustule, Failure to thrive, Erythema, Cutis marmorata, Malar rash, Skin rash, Pus... |
OMIM:615934 |
| Fixed Drug Eruption |
|
Generalized abnormality of skin, Crusting erythematous dermatitis, Erythema |
ORPHA:293812 |
| Lipoid Proteinosis |
|
Dystonia, Dysphagia, Pustule, Thickened skin, Acne, Hyperkeratosis |
ORPHA:530 |
| Darier Disease |
|
Pruritus, Subungual hyperkeratotic fragments, Palmoplantar keratoderma, Thickened skin, Acrokerat... |
ORPHA:218 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Thickened skin, Erythema, Palmoplantar keratoderma, Skin ulcer |
ORPHA:659 |
| Irida Syndrome |
|
Pallor, Ichthyosis, Hyperkeratosis |
ORPHA:209981 |
| Short Syndrome |
|
Premature skin wrinkling, Small for gestational age |
OMIM:269880 |
| 8Q22.1 Microdeletion Syndrome |
|
Lack of skin elasticity |
ORPHA:178303 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... |
OMIM:601952 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema, Telangiectasia, Telangiectasia of the skin, Hyperkeratosis |
ORPHA:79279 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Dehydration |
OMIM:602722 |
| Ataxia-Telangiectasia |
|
Gait disturbance, Failure to thrive, Telangiectasia of the skin, Prematurely aged appearance, Ata... |
ORPHA:100 |
| Subcorneal Pustular Dermatosis |
|
Pruritus, Erythema, Pustule |
ORPHA:48377 |
| Porokeratosis |
|
Pruritus, Cutaneous photosensitivity, Hyperkeratosis |
ORPHA:79358 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Progeroid facial appearance, Prematurely aged appearance, Redundant skin |
OMIM:123700 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251120 |
| Tempi Syndrome |
|
Telangiectasia, Ascites, Facial erythema, Transudative pleural effusion |
ORPHA:284227 |
| Isovaleric Acidemia |
|
Dehydration, Lethargy |
OMIM:243500 |
| Sunct Syndrome |
|
Flushing, Palpebral edema, Facial erythema, Facial edema |
ORPHA:57145 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Cutaneous photosensitivity, Palmar hyperkeratosis, Skin fragility with non... |
ORPHA:79397 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Dehydration, Lethargy |
ORPHA:27 |
| Glutamine Deficiency, Congenital |
|
Neonatal death, Erythema |
OMIM:610015 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Failure to thrive, Dehydration, Lethargy |
OMIM:251000 |
| Dowling-Degos Disease |
|
Hyperkeratotic papule, Pruritus, Acne inversa, Generalized abnormality of skin, Hyperkeratosis, S... |
ORPHA:79145 |
| Aicardi-Goutieres Syndrome 1 |
|
Dystonia, Petechiae, Erythema, Acrocyanosis, Inability to walk, Purpura, Prolonged neonatal jaund... |
OMIM:225750 |
| Fountain Syndrome |
|
Cutis marmorata, Erythema, Hyperextensible skin, Facial edema |
ORPHA:3219 |
| Cog5-Cdg |
|
Oligohydramnios, Premature skin wrinkling, Truncal ataxia |
ORPHA:263487 |
| Chromomycosis |
|
Hyperkeratotic papule, Lymphedema, Vascular skin abnormality, Pruritus, Edema, Hyperparakeratosis... |
ORPHA:182 |
| Mass Syndrome |
|
Striae distensae |
OMIM:604308 |
| Odontoonychodermal Dysplasia |
|
Erythema, Hypergranulosis, Orthokeratosis, Dry skin, Plantar hyperkeratosis |
OMIM:257980 |
| Autosomal Dominant Cerebellar Ataxia |
|
Gait disturbance, Dystonia, Pseudobulbar paralysis, Torticollis, Erythema, Laryngeal dystonia, Ak... |
ORPHA:99 |
| Immunoglobulin A Vasculitis |
|
Pustule, Angioedema, Vascular skin abnormality, Edema, Erythema, Urticaria, Purpura, Skin rash, S... |
ORPHA:761 |
| Oral Erosive Lichen |
|
Dry skin, Erythema |
ORPHA:31142 |
| Propionic Acidemia |
|
Dystonia, Eczema, Failure to thrive, Dehydration, Lethargy |
OMIM:606054 |
| Autosomal Agammaglobulinemia |
|
Failure to thrive, Recurrent skin infections, Dehydration, Skin rash |
ORPHA:33110 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... |
ORPHA:284426 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis |
OMIM:618531 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
| Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Progeroid facial appearance, Prematurely aged appearance, Lack of skin elasticity |
ORPHA:90153 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Acrocyanosis, Urticaria, Ataxia, Purpura |
ORPHA:343 |
| Neu-Laxova Syndrome |
|
Lack of skin elasticity, Ichthyosis, Polyhydramnios |
ORPHA:2671 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis |
OMIM:133200 |
| Lymphatic Malformation 4 |
|
Lymphedema, Hyperkeratosis |
OMIM:615907 |
| Secondary Short Bowel Syndrome |
|
Failure to thrive, Weight loss, Dehydration, Polyphagia |
ORPHA:95427 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Palmoplantar h... |
OMIM:300918 |
| Lichen Planopilaris |
|
Pruritus, Skin ulcer, Hyperkeratosis |
ORPHA:525 |
| Hennekam-Beemer Syndrome |
|
Failure to thrive, Pruritus, Thickened skin, Erythema, Telangiectasia of the skin, Urticaria, Ski... |
ORPHA:2135 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Pyoderma gangrenosum, Cystic acne, Erythema, Acne inversa |
OMIM:608068 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Ataxia, Dehydration |
OMIM:560000 |
| Acrodermatitis Enteropathica |
|
Pustule, Failure to thrive, Weight loss, Erythema, Generalized abnormality of skin, Dry skin, Ski... |
ORPHA:37 |
| Arthrogryposis Multiplex Congenita 5 |
|
Dystonia, Death in infancy, Polyhydramnios, Premature skin wrinkling, Akinesia |
OMIM:618947 |
| Flynn-Aird Syndrome |
|
Ataxia, Hyperkeratosis |
OMIM:136300 |
| White Sponge Nevus 2 |
|
Edema, Hyperparakeratosis |
OMIM:615785 |
| Ichthyosis With Confetti |
|
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:609165 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Scaling skin, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616295 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Failure to thrive in infancy, Pustule, Weight loss, Dehydration |
ORPHA:171876 |
| Adult-Onset Still Disease |
|
Pruritus, Erythema, Joint swelling, Skin rash |
ORPHA:829 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Pustule, Erythroderma, Angioedema, Weight loss, Erythema, Skin rash |
ORPHA:139402 |
| Olmsted Syndrome 2 |
|
Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkeratosis, Palmo... |
OMIM:619208 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration |
OMIM:606824 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Dehydration |
OMIM:203400 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Dehydration |
OMIM:610600 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis, Overweight, Abnormal elasticity of skin |
ORPHA:486815 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Gait ataxia, Abdominal obesity, Striae distensae |
OMIM:300354 |
| Mitral Valve Prolapse 1 |
|
Striae distensae |
OMIM:157700 |
| Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Redundant skin, Cutis laxa, Increased number of skin folds |
ORPHA:436274 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Failure to thrive, Dehydration |
OMIM:264350 |
| Vohwinkel Syndrome, Variant Form |
|
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis |
OMIM:604117 |
| Alternating Hemiplegia Of Childhood |
|
Dystonia, Dysphagia, Failure to thrive, Ataxia, Flushing, Oral-pharyngeal dysphagia, Pallor, Dehy... |
ORPHA:2131 |
| Pityriasis Rubra Pilaris |
|
Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritus, Thickened skin, Palmoplantar k... |
ORPHA:2897 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Failure to thrive, Hypertonic dehydration, Polydipsia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Failure to thrive, Hypertonic dehydration, Polydipsia |
OMIM:304800 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:618546 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Erythema, Stillbirth, Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:308050 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
| Immunodeficiency 23 |
|
Eczema, Failure to thrive, Erythema, Vasculitis in the skin, Chronic mucocutaneous candidiasis, A... |
OMIM:615816 |
| Progeroid Facial Appearance With Hand Anomalies |
|
Progeroid facial appearance, Oligohydramnios, Reduced subcutaneous adipose tissue, Prominent supe... |
OMIM:602249 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar keratoderma, Erythroderma, Ichthyosis, Hyperkeratosis |
OMIM:602540 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Edema, Erythema |
OMIM:619183 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Scaling skin, Pruritus, Dry skin, Cutis laxa |
OMIM:105250 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Lethargy, Weight loss, Edema, Ataxia, Pallor, Dehydration, Jaundice |
ORPHA:20 |
| Keratoderma Hereditarium Mutilans |
|
Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:494 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Dehydration |
OMIM:177735 |
| Thanatophoric Dysplasia Type 1 |
|
Acanthosis nigricans, Excessive wrinkled skin, Polyhydramnios, Increased nuchal translucency, Red... |
ORPHA:1860 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Dry skin, Prematurely aged appearance, Premature graying of hair |
ORPHA:2617 |
| Radio-Tartaglia Syndrome |
|
Dysphagia, Gait imbalance, Striae distensae, Ataxia, Dry skin, Obesity, Attention deficit hyperac... |
OMIM:619312 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... |
OMIM:148700 |
| Renal Hypoplasia |
|
Dehydration, Small for gestational age, Polydipsia |
ORPHA:93101 |
| Wolcott-Rallison Syndrome |
|
Ascites, Decreased body weight, Dehydration, Difficulty walking, Jaundice |
ORPHA:1667 |
| Toxic Epidermal Necrolysis |
|
Dysphagia, Acantholysis, Polydipsia, Weight loss, Erythema, Skin ulcer |
ORPHA:537 |
| Nicolaides-Baraitser Syndrome |
|
Excessive wrinkled skin, Eczema |
ORPHA:3051 |
| Xeroderma Pigmentosum |
|
Telangiectasia, Cutaneous photosensitivity, Failure to thrive, Thickened skin, Erythema, Telangie... |
ORPHA:910 |
| Progeroid Syndrome, Petty Type |
|
Cutis laxa, Failure to thrive, Reduced subcutaneous adipose tissue, Prematurely aged appearance, ... |
ORPHA:2963 |
| Osteootohepatoenteric Syndrome |
|
Failure to thrive, Pruritus, Weight loss, Prolonged neonatal jaundice, Dehydration |
OMIM:619377 |
| Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Dehydration |
ORPHA:556030 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis |
OMIM:173200 |
| Familial Cervical Artery Dissection |
|
Striae distensae |
ORPHA:36382 |
| Maxillonasal Dysplasia |
|
Striae distensae |
ORPHA:1248 |
| Rheumatic Fever |
|
Gait disturbance, Pallor, Erythema |
ORPHA:3099 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Peau d'orange, Failure to thrive, Hyperkeratosis, Dry skin |
OMIM:614576 |
| Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Xerostomia, Erythema, Telangiectasia of the skin, Urticaria, Ichthyosis, Palmopl... |
ORPHA:2907 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss, Dehydration |
ORPHA:35710 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
| Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Dehydration, Lethargy |
OMIM:251110 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Facial erythema |
OMIM:618307 |
| Atypical Werner Syndrome |
|
Progeroid facial appearance, Failure to thrive, Telangiectasia of the skin, Subcutaneous calcific... |
ORPHA:79474 |
| Weill-Marchesani Syndrome 2 |
|
Thickened skin, Lack of skin elasticity, Striae distensae |
OMIM:608328 |
| Leopard Syndrome 3 |
|
Dry skin, Epidermal hyperkeratosis, Hyperkeratosis |
OMIM:613707 |
| Ifap Syndrome 2 |
|
Perioral erythema, Ichthyosis follicularis |
OMIM:619016 |
| Spinocerebellar Ataxia 34 |
|
Ataxia, Dysdiadochokinesis, Hyperkeratosis, Limb ataxia, Gait ataxia |
OMIM:133190 |
| Methylmalonic Aciduria, Cbla Type |
|
Failure to thrive, Dehydration, Lethargy |
OMIM:251100 |
| Fg Syndrome Type 1 |
|
Facial wrinkling, Attention deficit hyperactivity disorder, Slender build, Broad-based gait |
ORPHA:93932 |
| Microscopic Polyangiitis |
|
Erythema, Subcutaneous hemorrhage, Cutis marmorata, Skin rash, Skin ulcer |
ORPHA:727 |
| Congenital Disorder Of Glycosylation, Type Iir |
|
Cutis laxa, Ascites, Jaundice |
OMIM:301045 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Failure to thrive, Erythema, Palmoplantar keratoderma, Generalized abnormality of skin, Recurrent... |
ORPHA:79396 |
| Chikungunya |
|
Erythema nodosum, Cutaneous photosensitivity, Petechiae, Pruritus, Erythema, Facial edema, Maculo... |
ORPHA:324625 |
| Fontaine Progeroid Syndrome |
|
Death in infancy, Small for gestational age, Failure to thrive, Neonatal death, Reduced subcutane... |
OMIM:612289 |
| Corneodermatoosseous Syndrome |
|
Thickened skin, Erythema, Palmoplantar keratoderma |
ORPHA:3194 |
| Milroy Disease |
|
Lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Predominantly lower limb lymphedema |
ORPHA:79452 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Bruising susceptibility, Soft skin, Hyperextensible skin, Poor wound healing |
OMIM:130060 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:604777 |
| Geleophysic Dysplasia 1 |
|
Thickened skin, Lack of skin elasticity |
OMIM:231050 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Cutaneous photosensitivity, Urticaria, Prematurely aged appearance, Ataxia, Skin rash, ... |
ORPHA:220295 |
| Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Excessive wrinkled skin, Palmoplantar keratoderma, Ichthyosis, Hype... |
ORPHA:1340 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Psoriasiform dermatitis, Pustule, Chapped lip, Erythema, Generalized abnormality of skin, Recurre... |
ORPHA:294023 |
| Peeling Skin Syndrome 6 |
|
Pruritus, Orthokeratosis, Parakeratosis |
OMIM:618084 |
| Granddad Syndrome |
|
Progeroid facial appearance, Reduced subcutaneous adipose tissue |
OMIM:138920 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Oligohydramnios, Dehydration |
OMIM:263200 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis |
OMIM:618625 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Progeroid facial appearance, Slender build, Small for gestational age, Failure to thrive |
OMIM:608154 |
| Proteus Syndrome |
|
Hyperkeratosis |
OMIM:176920 |
| Olmsted Syndrome 1 |
|
Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis |
OMIM:614594 |
| Lig4 Syndrome |
|
Erythema, Telangiectasia of the skin, Cutaneous photosensitivity |
ORPHA:99812 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Dehydration, Polyhydramnios |
OMIM:214700 |
| Incontinentia Pigmenti |
|
Gait disturbance, Erythema, Telangiectasia of the skin, Skin rash, Hyperkeratosis, Attention defi... |
ORPHA:464 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Orthokeratosis, Ichthyosis, Dry skin, Jaundice |
OMIM:607626 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Attention deficit hyperactivity disorder, Ichthyosis, Hyperkeratosis |
ORPHA:281090 |
| Familial Keratoacanthoma |
|
Skin ulcer, Hyperkeratosis |
ORPHA:493 |
| Stevens-Johnson Syndrome |
|
Weight loss, Dysphagia, Erythema, Acantholysis |
ORPHA:36426 |
| Cholera |
|
Dehydration, Palmoplantar cutis laxa, Lethargy |
ORPHA:173 |
| Acrokeratosis Verruciformis Of Hopf |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
| Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Cutis laxa, Redundant skin |
ORPHA:91135 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Scleroderma, Premature skin wrinkling, Premature graying of hair |
ORPHA:363618 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Hidrotic ectodermal dysplasia, Hyperkeratosis |
ORPHA:1883 |
| Dermatomyositis |
|
Cutaneous photosensitivity, Pruritus, Edema, Erythema, Telangiectasia of the skin, Weight loss, A... |
ORPHA:221 |
| Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Cutis laxa, Increased number of skin folds, Prematurely aged appearance, Der... |
ORPHA:90348 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Weight loss, Dehydration |
ORPHA:92050 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Erythema |
OMIM:614878 |
| Kindler Epidermolysis Bullosa |
|
Dysphagia, Cutaneous photosensitivity, Erythema, Palmoplantar keratoderma, Recurrent skin infecti... |
ORPHA:2908 |
| Vipoma |
|
Ascites, Weight loss, Erythema, Subcutaneous lipoma, Dehydration, Intermittent jaundice |
ORPHA:97282 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Lack of skin elasticity, Redundant skin, Cutis laxa |
ORPHA:90349 |
| Neonatal Lupus Erythematosus |
|
Cutaneous photosensitivity, Parakeratosis, Malar rash, Skin rash, Maculopapular exanthema, Hyperk... |
ORPHA:398124 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Cutis laxa, Excessive wrinkled skin, Failure to thrive, Abnormal subcutaneou... |
ORPHA:357074 |
| Kanzaki Disease |
|
Angiokeratoma corporis diffusum, Hyperkeratosis, Dry skin, Lip telangiectasia, Telangiectasia of ... |
OMIM:609242 |
| Pilodental Dysplasia With Refractive Errors |
|
Follicular hyperkeratosis, Ectodermal dysplasia |
OMIM:262020 |
| Ogden Syndrome |
|
Facial wrinkling, Minimal subcutaneous fat, Redundant skin, Cutis laxa |
OMIM:300855 |
| Porokeratosis 7, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:614714 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Athetosis, Dystonia, Excessive wrinkled skin, Progeroid facial appearance, Ataxia, Inability to walk |
ORPHA:357058 |
| Trichothiodystrophy 1, Photosensitive |
|
Telangiectasia, Erythroderma, Cutaneous photosensitivity, Small for gestational age, Congenital n... |
OMIM:601675 |
| Sialidosis Type 1 |
|
Hyperkeratosis, Gait disturbance, Ataxia, Vascular skin abnormality |
ORPHA:812 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Dry skin, Hyperkeratosis |
ORPHA:1028 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Bruising susceptibility, Truncal obesity, Striae distensae |
OMIM:610475 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Bruising susceptibility, Truncal obesity, Striae distensae |
OMIM:610489 |
| Adrenal Hypoplasia, Congenital |
|
Failure to thrive, Dehydration |
OMIM:300200 |
| Oligomeganephronia |
|
Dehydration, Small for gestational age, Polydipsia |
ORPHA:2260 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Excessive wrinkled skin, Dermal translucency, Cutis laxa |
OMIM:614438 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Angiokeratoma corporis diffusum, Telangiectasia of the skin, Hyperkeratosis, Lip telangiectasia, ... |
ORPHA:79280 |
| Shigellosis |
|
Urticaria, Failure to thrive in infancy, Dehydration, Purpura |
ORPHA:810 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis |
OMIM:148500 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Follicular hyperkeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Parakeratosis |
OMIM:615225 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Sclerodactyly, Scaling skin, Facial erythema, Poor wound healing, Dry skin |
ORPHA:1010 |
| Keppen-Lubinsky Syndrome |
|
Progeroid facial appearance, Premature skin wrinkling, Polyhydramnios, Failure to thrive |
ORPHA:435628 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Prematurely aged appearance, Redundant skin |
ORPHA:1807 |
| Macs Syndrome |
|
Cutis laxa, Palpebral edema, Hyperextensible skin, Ichthyosis, Decreased body weight, Redundant s... |
OMIM:613075 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Palmoplantar cutis laxa, Hyperextensible skin, Poor wound healing, Soft skin, Bruising susceptibi... |
OMIM:130080 |
| Hoyeraal-Hreidarsson Syndrome |
|
Excessive wrinkled skin, Ataxia, Premature graying of hair, Failure to thrive |
ORPHA:3322 |
| Riddle Syndrome |
|
Telangiectasia, Gait disturbance, Weight loss, Erythema, Conjunctival telangiectasia, Ataxia, Sca... |
ORPHA:420741 |
| Macroepiphyseal Dysplasia With Osteoporosis, Wrinkled Skin, And Aged Appearance |
|
Prematurely aged appearance, Reduced subcutaneous adipose tissue |
OMIM:248010 |
| Scleromyxedema |
|
Dysphagia, Pruritus, Thickened skin, Aged leonine appearance, Generalized abnormality of skin, Sc... |
ORPHA:167635 |
| Rothmund-Thomson Syndrome Type 2 |
|
Small for gestational age, Erythema, Facial edema, Facial erythema, Plantar hyperkeratosis, Porok... |
ORPHA:221016 |
| Hutchinson-Gilford Progeria Syndrome |
|
Weight loss, Shuffling gait, Prominent superficial blood vessels, Generalized abnormality of skin... |
ORPHA:740 |
| Rothmund-Thomson Syndrome Type 1 |
|
Telangiectasia, Small for gestational age, Facial edema, Facial erythema, Attention deficit hyper... |
ORPHA:221008 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance |
OMIM:227260 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Hyperkeratotic papule, Pruritus, Fragile skin, Skin vesicle |
ORPHA:79410 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, O... |
OMIM:615508 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Bruising susceptibility, Truncal obesity, Striae distensae |
OMIM:219080 |
| Chronic Graft Versus Host Disease |
|
Dysphagia, Ascites, Xerostomia, Weight loss, Erythema, Thickened skin, Morphea, Poor wound healin... |
ORPHA:99921 |
| Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis |
ORPHA:38 |
| Porokeratosis 1, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175800 |
| Kikuchi-Fujimoto Disease |
|
Pustule, Cutaneous photosensitivity, Pruritus, Weight loss, Erythema, Vasculitis in the skin, Ata... |
ORPHA:50918 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin |
ORPHA:137608 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Failure to thrive |
OMIM:617388 |
| Wiedemann-Rautenstrauch Syndrome |
|
Dysphagia, Failure to thrive, Reduced subcutaneous adipose tissue, Premature skin wrinkling, Trun... |
OMIM:264090 |
| Hidrotic Ectodermal Dysplasia |
|
Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,... |
ORPHA:189 |
| Porokeratosis 3, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175900 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis |
OMIM:148600 |
| Microvillus Inclusion Disease |
|
Pruritus, Dehydration |
ORPHA:2290 |
| Cockayne Syndrome |
|
Gait disturbance, Cachexia, Cutaneous photosensitivity, Reduced subcutaneous adipose tissue, Prog... |
ORPHA:191 |
| Nephrogenic Diabetes Insipidus |
|
Failure to thrive, Hypernatremic dehydration, Polydipsia, Polyhydramnios |
ORPHA:223 |
| Campomelia, Cumming Type |
|
Death in infancy, Prematurely aged appearance, Oligohydramnios, Hydrops fetalis, Lymphedema |
ORPHA:1318 |
| Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Dorsocervical fat pad, Acne, Increased body weight, Striae distensae, Abdominal obesity, Plethora... |
ORPHA:189427 |
| Hypohidrotic Ectodermal Dysplasia |
|
Eczema, Xerostomia, Failure to thrive, Hyperkeratosis, Dry skin |
ORPHA:238468 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, Parakeratosis |
OMIM:242300 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Orthokeratosis, Acne inversa, Hyperkeratosis |
OMIM:617337 |
| Primary Pigmented Nodular Adrenocortical Disease |
|
Dorsocervical fat pad, Abnormal subcutaneous fat tissue distribution, Acne, Increased body weight... |
ORPHA:189439 |
| Popov-Chang syndrome |
|
Dry skin, Failure to thrive, Hyperkeratosis |
OMIM:618428 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Palmoplantar cutis laxa, Excessive wrinkled skin, Follicular hyperkeratosis, Hyperextensible skin... |
OMIM:225400 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis, Hyperkeratosis |
OMIM:610227 |
| Acquired Partial Lipodystrophy |
|
Progeroid facial appearance |
ORPHA:79087 |
| Cardiofaciocutaneous Syndrome 3 |
|
Failure to thrive, Hyperkeratosis |
OMIM:615279 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Failure to thrive, Jaundice, Ataxia, Dehydration, Hydrops fetalis, Lethargy |
ORPHA:79282 |
| Laron Syndrome |
|
Prematurely aged appearance, Truncal obesity |
ORPHA:633 |
| De Barsy Syndrome |
|
Athetosis, Cutis laxa, Excessive wrinkled skin, Progeroid facial appearance, Failure to thrive, P... |
ORPHA:2962 |
| Incontinentia Pigmenti |
|
Pallor, Erythema, Hyperkeratosis |
OMIM:308300 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Epidermal hyperkeratosis, Telangiectasia of extensor surfaces, Facial telangiectasia in butterfly... |
OMIM:137940 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Erythroderma, Ectodermal dysplasia, Follicular hyperkeratosis, Oligohydramnios, Scaling skin, Dry... |
OMIM:308205 |
| Short Syndrome |
|
Excessive wrinkled skin, Weight loss |
ORPHA:3163 |
| Cushing Disease |
|
Ecchymosis, Dorsocervical fat pad, Acne, Increased body weight, Striae distensae, Truncal obesity... |
ORPHA:96253 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Prematurely aged appearance |
ORPHA:1387 |
| Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Pericardial effusion, Thickened skin, Skin rash, Generalized hyperkerato... |
ORPHA:92 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Follicular hyperkeratosis, Skin vesicle |
OMIM:613102 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Gait disturbance, Dysphagia, Progeroid facial appearance, Truncal ataxia, Unsteady gait, Limb ata... |
ORPHA:412057 |
| Infantile Nephropathic Cystinosis |
|
Failure to thrive, Dehydration, Polydipsia |
ORPHA:411629 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Progeroid facial appearance, Cutis marmorata, Cutaneous photosensitivity, Broad-based gait |
OMIM:300953 |
| Familial Tumoral Calcinosis |
|
Erythema, Skin rash |
ORPHA:53715 |
| Lysosomal Acid Lipase Deficiency |
|
Cachexia, Ascites, Failure to thrive, Pruritus, Weight loss, Dehydration, Jaundice |
ORPHA:275761 |
| Localized Scleroderma |
|
Thickened skin, Erythema |
ORPHA:90289 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Cutis marmorata, Failure to thrive in infancy, Hyperkeratosis |
OMIM:301220 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Failure to thrive in infancy, Pustule, Skin rash, Hyperkeratosis, Joint swelling |
OMIM:612852 |
| Pearson Syndrome |
|
Dysphagia, Cutaneous photosensitivity, Small for gestational age, Corneal stromal edema, Ataxia, ... |
ORPHA:699 |
| Mednik Syndrome |
|
Ichthyosis, Hyperkeratosis |
ORPHA:171851 |
| Man1B1-Cdg |
|
Truncal obesity, Cutis laxa, Broad-based gait, Polyphagia |
ORPHA:397941 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Eczema, Failure to thrive, Polyhydramnios, Large for gestational age, Hyperactivity, Ichthyosis, ... |
OMIM:607721 |
| Amyloidosis, Finnish Type |
|
Cutis laxa |
OMIM:105120 |
| Behcet Syndrome |
|
Erythema, Erythema nodosum |
OMIM:109650 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Pruritus, Failure to thrive, Palmoplantar keratoderma, Follicular hyperkeratosis, Re... |
ORPHA:158668 |
| Chime Syndrome |
|
Erythema, Skin ulcer, Ichthyosis, Hyperkeratosis |
ORPHA:3474 |
| Melas |
|
Failure to thrive, Gait disturbance, Erythema, Ataxia |
ORPHA:550 |
| Pyruvate Carboxylase Deficiency |
|
Dystonia, Failure to thrive, Ataxia, Tip-toe gait, Dehydration |
ORPHA:3008 |
| Wiedemann-Rautenstrauch Syndrome |
|
Acanthosis nigricans, Progeroid facial appearance, Failure to thrive, Slender build, Reduced subc... |
ORPHA:3455 |
| Rafiq Syndrome |
|
Ataxia, Obesity, Cutis laxa, Truncal obesity |
OMIM:614202 |
| Loeys-Dietz Syndrome 4 |
|
Torticollis, Bruising susceptibility, Hyperextensible skin, Striae distensae |
OMIM:614816 |
| Opitz-Kaveggia Syndrome |
|
Facial wrinkling, Attention deficit hyperactivity disorder |
OMIM:305450 |
| Alacrima, Achalasia, And Mental Retardation Syndrome |
|
Gait disturbance, Dysphagia, Hyperkeratosis |
OMIM:615510 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Erythema, Erysipelas, Skin rash, Periorbital edema, Bruising susceptibility |
ORPHA:32960 |
| Warburg-Cinotti Syndrome |
|
Follicular hyperkeratosis, Erythema, Joint swelling, Poor wound healing |
OMIM:618175 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Progeroid facial appearance, Cutis laxa, Hyperextensible skin |
ORPHA:75496 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Ataxia, Weight loss, Dehydration |
ORPHA:99885 |
| Familial Mediterranean Fever |
|
Ascites, Erythema, Skin rash, Pedal edema, Erysipelas |
ORPHA:342 |
| Menkes Disease |
|
Cutis laxa, Death in childhood |
OMIM:309400 |
| Fucosidosis |
|
Acrocyanosis, Generalized hyperkeratosis, Failure to thrive, Vascular skin abnormality |
ORPHA:349 |
| Glucagonoma |
|
Ascites, Necrolytic migratory erythema, Pruritus, Weight loss, Subcutaneous lipoma, Skin rash, In... |
ORPHA:97280 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Congenital ichthyosiform erythroderma, Hyperkeratosis |
OMIM:602400 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Failure to thrive, Dehydration |
ORPHA:90791 |
| Distal Renal Tubular Acidosis |
|
Failure to thrive, Dehydration, Polydipsia |
ORPHA:18 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Acanthosis nigricans, Progeroid facial appearance, Failure to thrive, Erythema, Death in adolesce... |
OMIM:256040 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
| Noonan Syndrome 10 |
|
Palmoplantar cutis laxa, Increased nuchal translucency, Hyperextensible skin, Hyperkeratosis, Ple... |
OMIM:616564 |
| Neuroleptic Malignant Syndrome |
|
Dysphagia, Oculogyric crisis, Dehydration |
ORPHA:94093 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Skin ulcer, Hyperkeratosis |
ORPHA:1806 |
| Agel Amyloidosis |
|
Cutis laxa, Xerostomia, Pruritus, Dermatological manifestations of systemic disorders, Edema, Ata... |
ORPHA:85448 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue, Hyperextensible skin |
ORPHA:1901 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Bruising susceptibility, Soft skin, Hyperextensible skin |
OMIM:225320 |
| Kid Syndrome |
|
Psoriasiform dermatitis, Folliculitis, Recurrent cutaneous abscess formation, Progeroid facial ap... |
ORPHA:477 |
| Werner Syndrome |
|
Progeroid facial appearance, Scleroderma, Subcutaneous calcification |
OMIM:277700 |
| Blau Syndrome |
|
Xerostomia, Skin ulcer, Erythema, Skin rash, Ichthyosis, Dry skin, Joint swelling, Erythema nodosum |
ORPHA:90340 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Decreased body weight, Cutis laxa, Hyperextensible skin |
OMIM:615349 |
| Noonan Syndrome 2 |
|
Palmoplantar cutis laxa, Polyhydramnios, Increased nuchal translucency, Hyperextensible skin, Hyp... |
OMIM:605275 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Lack of facial subcutaneous fat, Small for gestational age, Progeroid facial appearance, Prematur... |
ORPHA:2959 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Failure to thrive, Follicular hyperkeratosis, Slender build, Torticollis |
OMIM:254090 |
| Cystinosis, Nephropathic |
|
Dysphagia, Failure to thrive in infancy, Polydipsia, Oral-pharyngeal dysphagia, Dehydration |
OMIM:219800 |
| Juvenile Nephropathic Cystinosis |
|
Failure to thrive, Dehydration, Polydipsia |
ORPHA:411634 |
| Geroderma Osteodysplastica |
|
Prematurely aged appearance, Redundant skin, Hyperextensible skin |
ORPHA:2078 |
| Donohue Syndrome |
|
Acanthosis nigricans, Severe failure to thrive, Hyperkeratosis |
OMIM:246200 |
| Adrenocortical Carcinoma |
|
Weight loss, Increased body weight, Striae distensae |
ORPHA:1501 |
| Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Cutis laxa |
OMIM:614100 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Fetal ascites, Atopic dermatitis, Dysphagia, Cutis laxa, Failure to thrive, Erythema, Reduced sub... |
OMIM:619503 |
| Mycetoma |
|
Recurrent bact |
