Ulerythema Ophryogenesis |
|
Acne, Miscarriage, Facial erythema, Hyperkeratotic papule, Follicular hyperkeratosis, Dry skin, C... |
ORPHA:3406 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratotic papule, Generalized abnormal... |
ORPHA:737 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of the dentition |
OMIM:617756 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Lamellar Ichthyosis |
|
Abnormality of the dentition, Pruritus, Lack of skin elasticity, Dehydration, Erythroderma, Hyper... |
ORPHA:313 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Aquagenic Palmoplantar Keratoderma |
|
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... |
ORPHA:498359 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly |
OMIM:212360 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er... |
ORPHA:87503 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Atop... |
ORPHA:530838 |
Huriez Syndrome |
|
Dry skin, Lack of skin elasticity, Sclerodactyly, Palmoplantar keratoderma |
ORPHA:384 |
Progressive Symmetric Erythrokeratodermia |
|
Erythema, Palmoplantar keratoderma |
ORPHA:316 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Atrophoderma Vermiculata |
|
Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin |
ORPHA:2584 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Erythema, Palmoplantar keratoderma |
OMIM:617524 |
Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Dry skin, Ichthyosis |
OMIM:146700 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... |
ORPHA:64745 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Attention deficit hyperactivity disorder, Ichthyosis |
ORPHA:461 |
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 |
|
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos... |
OMIM:603165 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Erythrokeratodermia Variabilis |
|
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkeratosis, Cutaneous photosensitivi... |
ORPHA:317 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis |
ORPHA:79503 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin, Ichthyosis |
ORPHA:2271 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar scaling sk... |
ORPHA:100976 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Ataxia-Photosensitivity-Short Stature Syndrome |
|
Ataxia, Dry skin, Urticaria, Gait disturbance, Cutaneous photosensitivity |
ORPHA:1184 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Perioral erythema, Ichthyosis |
OMIM:248300 |
Sjögren-Larsson Syndrome |
|
Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:816 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital b... |
OMIM:607602 |
Amyloidosis, Primary Localized Cutaneous, 3 |
|
Pruritus, Cutaneous photosensitivity, Dry skin |
OMIM:617920 |
Dermatoleukodystrophy |
|
Thickened skin, Premature skin wrinkling, Progeroid facial appearance |
OMIM:221790 |
Acral Self-Healing Collodion Baby |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... |
ORPHA:281127 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:2812 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... |
ORPHA:90158 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:1366 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Abnormality of the dentition, Pruritus, Oral mucosal blisters, Hyperkerat... |
ORPHA:79399 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Pruritus, Cutaneous photosensitivity, Erythema |
ORPHA:33314 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
Vibratory Urticaria |
|
Urticaria, Flushing, Facial erythema |
OMIM:125630 |
Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Thickened skin, Lack of skin elasticity, Palmoplantar keratoderma, Narrow mouth, Abnormal circula... |
ORPHA:1979 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta... |
ORPHA:330058 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Erythroderma, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Co... |
OMIM:612281 |
Costello Syndrome |
|
Redundant skin, Polyhydramnios, Abnormal dental enamel morphology, Abnormality of the dentition, ... |
ORPHA:3071 |
Harlequin Ichthyosis |
|
Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis, Self-injurious be... |
ORPHA:457 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Cutis laxa, Generalized ichthyosis, Scaling skin, Eclabion, Dry skin, Generalized hyperkeratosis |
ORPHA:2269 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule |
ORPHA:464318 |
Peeling Skin Syndrome 3 |
|
Pruritus, Erythema, White scaling skin |
OMIM:616265 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform e... |
OMIM:614457 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Death in infancy, Urticaria, Ichthyosis, Dry skin |
ORPHA:1954 |
Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin |
ORPHA:263534 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis, Oral mucosal blisters |
ORPHA:89838 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Early cutaneous photosensitivity, Death in infancy, Erythema |
OMIM:219095 |
Mastocytosis, Cutaneous |
|
Urticaria, Erythema, Edema, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Superficial Epidermolytic Ichthyosis |
|
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis |
ORPHA:455 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Eclabion, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Eryt... |
OMIM:615023 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal oral mu... |
ORPHA:79147 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
Cutaneous Mastocytoma |
|
Maculopapular exanthema, Telangiectasia of the skin, Pruritus, Thickened skin, Angioedema, Erythe... |
ORPHA:79455 |
Phenylketonuria |
|
Hyperactivity, Eczema, Aggressive behavior, Compulsive behaviors, Attention deficit hyperactivity... |
OMIM:261600 |
Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... |
ORPHA:280779 |
Sydenham Chorea |
|
Unsteady gait, Erythema, Inappropriate behavior, Compulsive behaviors |
ORPHA:306731 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis, Erythema |
ORPHA:83453 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema |
ORPHA:90160 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Erythema |
ORPHA:222 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Quinquaud Folliculitis Decalvans |
|
Pustule, Erythema, Recurrent skin infections |
ORPHA:346 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,... |
ORPHA:90280 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... |
ORPHA:312 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Urticaria, Purpura |
ORPHA:889 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... |
ORPHA:158681 |
Dermatofibrosarcoma Protuberans |
|
Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema, Vasculitis i... |
ORPHA:90159 |
Erythema Nodosum, Familial |
|
Erythema nodosum, Erythema |
OMIM:132990 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli... |
OMIM:616295 |
Angioma Serpiginosum |
|
Erythema, Vascular skin abnormality |
ORPHA:95429 |
Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi... |
ORPHA:166113 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin |
OMIM:146590 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Inability to walk, Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Uv-Sensitive Syndrome 3 |
|
Cutaneous photosensitivity, Dry skin, Telangiectasia |
OMIM:614640 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Bruising susceptibility, Facial erythema |
OMIM:143850 |
Maculopapular Cutaneous Mastocytosis |
|
Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu... |
ORPHA:79457 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Dry skin |
OMIM:224750 |
Spinocerebellar Ataxia Type 34 |
|
Urticaria, Progressive cerebellar ataxia, Dysdiadochokinesis, Gait disturbance, Dry skin |
ORPHA:1955 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
Ledderhose Disease |
|
Lack of skin elasticity |
ORPHA:199251 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Scaling skin on fingertip, Parakeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Honeycomb... |
ORPHA:79395 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Dysphagia, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin |
OMIM:612379 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... |
OMIM:242300 |
Lipoid Proteinosis |
|
Acne, Abnormal oral mucosa morphology, Pustule, Thickened skin, Abnormality of the gingiva, Thick... |
ORPHA:530 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin |
OMIM:308800 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Pruritus, Laryngeal edema, Erythem... |
ORPHA:100057 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Aggressive behavior |
OMIM:247100 |
Uv-Sensitive Syndrome 1 |
|
Cutaneous photosensitivity, Dry skin, Telangiectasia |
OMIM:600630 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Plantar hyperkeratosis, Thickened skin, Diffuse palmoplantar... |
ORPHA:495 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Ataxia, Hyperkeratosis, Scaling skin, Erythroderma, Dry skin |
OMIM:609180 |
Epidermolytic Palmoplantar Keratoderma |
|
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... |
ORPHA:2199 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Crusting erythematous dermatitis, Palmoplantar hyperkeratosis, Telangiectasia, Cutaneou... |
ORPHA:158673 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Ataxia, Xerostomia, Dysmetria, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, D... |
OMIM:618527 |
Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Cutis laxa |
ORPHA:79148 |
Anonychia With Flexural Pigmentation |
|
Dry skin |
OMIM:106750 |
Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
Tooth Agenesis, Selective, 8 |
|
Dry skin |
OMIM:617073 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati... |
ORPHA:79481 |
Erythema Of Acral Regions |
|
Erythema |
OMIM:227000 |
Transaldolase Deficiency |
|
Premature skin wrinkling, Hydrops fetalis, Edema, Telangiectasia |
ORPHA:101028 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis, Abnormal oral mucosa morphology, Pruritus |
ORPHA:254478 |
Keratolytic Winter Erythema |
|
Erythema |
OMIM:148370 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Edema, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence,... |
OMIM:605676 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Gingival overgrowth, Focal friction-related palmoplantar hyperkeratosis... |
ORPHA:2200 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Palmoplantar keratoderma, Abnormal dental morphology, Everted lower lip vermilion |
ORPHA:2251 |
Keratoderma Hereditarium Mutilans |
|
Cleft palate, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Self-injurious behavior, Ich... |
ORPHA:494 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Erythema |
ORPHA:36237 |
Classic Phenylketonuria |
|
Eczema, Lack of skin elasticity, Self-injurious behavior, Attention deficit hyperactivity disorde... |
ORPHA:79254 |
Pili Torti-Onychodysplasia Syndrome |
|
Eczema, Generalized keratosis follicularis, Ectodermal dysplasia, Palmoplantar keratoderma, Dry skin |
ORPHA:2890 |
Familial Cold Urticaria |
|
Pruritus, Erythema, Dehydration, Urticaria, Polydipsia |
ORPHA:47045 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke... |
OMIM:242100 |
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Pruritus, Palmoplantar keratoderma, Eczema, Dry skin |
OMIM:618535 |
Dermoodontodysplasia |
|
Ectodermal dysplasia, Dry skin |
OMIM:125640 |
Alg8-Cdg |
|
Ataxia, Abnormality of subcutaneous fat tissue, Edema, Hydrops fetalis, Cutis laxa, Intrauterine ... |
ORPHA:79325 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema |
ORPHA:90157 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Dental crowding, Lack of skin elasticity, 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 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous... |
OMIM:613576 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Thyrotropin-Releasing Hormone Deficiency |
|
Dry skin |
OMIM:275120 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Inflammatory abnormality of the skin, Increased circulating free fatty acid lev... |
OMIM:610768 |
Protoporphyria, Erythropoietic, 1 |
|
Hypertriglyceridemia, Eczema, Edema, Pruritus, Erythema |
OMIM:177000 |
Keratosis Pilaris Atrophicans |
|
Erythema |
OMIM:604093 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis, Agitation, Self-injurious behavior |
OMIM:618339 |
Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Mild intrauterine growth retardation, Dry skin, Broad-based gait, Ichthyosis |
OMIM:616943 |
Irida Syndrome |
|
Hyperkeratosis, Decreased circulating copper concentration, Pallor, Ichthyosis |
ORPHA:209981 |
Stiff Skin Syndrome |
|
Thickened skin, Abnormal circulating lipid concentration, Lack of skin elasticity |
ORPHA:2833 |
Werner Syndrome |
|
Miscarriage, Lack of skin elasticity, Skin ulcer, Hyperkeratosis, Neoplasm of the oral cavity |
ORPHA:902 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Fragile skin |
ORPHA:542592 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... |
OMIM:619208 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Prolidase Deficiency |
|
Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer, Hyperkeratosis, Cutaneous photo... |
ORPHA:742 |
Riddle Syndrome |
|
Dry skin, Ataxia |
OMIM:611943 |
Primary Erythromelalgia |
|
Pruritus, Erythema |
ORPHA:90026 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Hyperactivity, Dental crowding, Persistence of primary teeth, Aggressive behavior, Thick lower li... |
OMIM:618342 |
Lichen Planopilaris |
|
Pruritus, Hyperkeratosis, Neoplasm of the oral cavity, Skin ulcer |
ORPHA:525 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Abnormality of the dentition, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling... |
ORPHA:90368 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmo... |
OMIM:602540 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... |
OMIM:620014 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis, Conical tooth |
OMIM:618625 |
Autosomal Erythropoietic Protoporphyria |
|
Eczema, Edema, Pruritus, Erythema, Cutaneous photosensitivity |
ORPHA:79278 |
Dermatitis Herpetiformis |
|
Eczema, Edema, Pruritus, Erythema, Urticaria, Skin vesicle |
ORPHA:1656 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Leopard Syndrome 3 |
|
Hyperkeratosis, Dry skin, Epidermal hyperkeratosis |
OMIM:613707 |
Cdkl5-Deficiency Disorder |
|
Deep philtrum, Everted lower lip vermilion, Thick vermilion border, Inappropriate laughter, Bruxi... |
ORPHA:505652 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Hyperextensible skin, Elevated circulating creatine kinase concentration, Follicular hyperkeratosis |
ORPHA:300179 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Prominent superficial veins, Pedal edema, Lymphedema |
OMIM:615907 |
Sézary Syndrome |
|
Edema, Pruritus, Palmoplantar keratoderma, Erythroderma, Dry skin |
ORPHA:3162 |
Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Ataxia, Unsteady gait, Attention deficit hyperactivity disorder, Premature skin wr... |
ORPHA:1942 |
Pierpont Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Thin vermilion border, Widely spaced teeth, Everted lo... |
ORPHA:487825 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Dry skin, Scaling skin |
OMIM:105250 |
Antisynthetase Syndrome |
|
Skin rash, Elevated circulating creatine kinase concentration, Edema, Pruritus, Xerostomia, Lack ... |
ORPHA:81 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... |
ORPHA:2897 |
Thyroid Dyshormonogenesis 1 |
|
Umbilical hernia, Dry skin, Lethargy |
OMIM:274400 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Dry skin, Scaling skin |
OMIM:612952 |
Flynn-Aird Syndrome |
|
Carious teeth, Hyperkeratosis |
OMIM:136300 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling |
OMIM:617950 |
Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Decreased retinol-binding protein level, Follicular hyperkeratosis |
OMIM:615147 |
Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling |
OMIM:601349 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria |
OMIM:614468 |
Psoriasis 14, Pustular |
|
Pustule, Parakeratosis, Erythema, Psoriasiform dermatitis |
OMIM:614204 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:604777 |
Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Nonimmune hydrops fetalis, Polyhydramnios, Narrow mouth, Dysphagia, ... |
OMIM:608013 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
Netherton Syndrome |
|
Skin rash, Eczema, Erythroderma, Dehydration, Urticaria, Congenital nonbullous ichthyosiform eryt... |
ORPHA:634 |
Mycosis Fungoides |
|
Pruritus, Erythema, Eczema, Psoriasiform dermatitis |
OMIM:254400 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... |
ORPHA:3019 |
14Q11.2 Microdeletion Syndrome |
|
Exaggerated cupid's bow, Deep philtrum, Everted lower lip vermilion, High palate, Narrow mouth, L... |
ORPHA:261120 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Erythema, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous abscess |
OMIM:147060 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... |
OMIM:300918 |
Man1B1-Cdg |
|
Thin upper lip vermilion, Cutis laxa, Thick vermilion border, Short philtrum, Eclabion, Polyphagi... |
ORPHA:397941 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Poor wound healing, Inability to walk, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Stepp... |
ORPHA:36386 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Gingival fibromat... |
ORPHA:2025 |
Leri Pleonosteosis |
|
Thickened skin, Lack of skin elasticity |
ORPHA:2900 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Hyperkeratosis, Palmoplantar keratoderma, Hypodontia, Dysphagia, Ename... |
OMIM:616029 |
Warty Dyskeratoma |
|
Abnormality of the alveolar ridges, Acrokeratosis, Acantholysis, Oral mucosa nodule, Epidermal th... |
ORPHA:69745 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Dry skin, Prematurely aged appearance |
ORPHA:2617 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Broad-based gait, Dry skin |
OMIM:614450 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Oral mucosal blisters, Sk... |
ORPHA:555905 |
Platelet-Activating Factor Acetylhydrolase Deficiency |
|
Increased level of platelet-activating factor |
OMIM:614278 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, High palate, Long philtrum |
OMIM:612940 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Hyperkeratosis, Peau d'orange, Intrauterine growth retardation, Dry skin |
OMIM:614576 |
Proteus Syndrome |
|
Hyperkeratosis, Open mouth |
OMIM:176920 |
Growth Delay Due To Insulin-Like Growth Factor I Resistance |
|
Thin vermilion border, Everted lower lip vermilion, Smooth philtrum |
ORPHA:73273 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis |
ORPHA:1334 |
Darier Disease |
|
Acrokeratosis, Pruritus, Thickened skin, Palmoplantar keratoderma, Skin vesicle, Subungual hyperk... |
ORPHA:218 |
Mednik Syndrome |
|
Hyperkeratosis, Decreased circulating ceruloplasmin concentration, Decreased circulating copper c... |
ORPHA:171851 |
Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Ectodermal dysplasia, Dry skin |
OMIM:600906 |
Xeroderma Pigmentosum Variant |
|
Cutaneous photosensitivity, Dry skin, Telangiectasia |
ORPHA:90342 |
Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Abnormal oral cavity morphology, Acantholysis |
ORPHA:704 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Pruritus, Jaundice, Ichthyosis, Orthokeratosis, Dry skin |
OMIM:607626 |
Rhizomelic Chondrodysplasia Punctata |
|
Spina bifida occulta, Dry skin, Ichthyosis |
ORPHA:177 |
Macs Syndrome |
|
Eclabion, Irregular dentition, Palpebral edema, Redundant skin, Gingival overgrowth, Cutis laxa, ... |
OMIM:613075 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Thick lower lip vermilion, Dental crowding, Everted lower lip vermilion |
OMIM:300844 |
Complex Regional Pain Syndrome |
|
Edema of the upper limbs, Erythema, Dry skin, Pedal edema |
ORPHA:83452 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Ataxia, Eczema, Aggressive behavior, Pica, Dry skin |
OMIM:620191 |
Bullous Pemphigoid |
|
Urticaria, Erythema, Eczema, Psoriasiform dermatitis |
ORPHA:703 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash |
ORPHA:163525 |
C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Facial erythema, Vasculitis in the skin, Malar rash |
OMIM:620321 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Redundant skin, Frontal open bite, Gingival overgrowth, Gingival hyperkeratosis, Hyperextensible ... |
OMIM:225410 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Plantar hyperkeratosis, Abnormality of the dentition, Oral mucosal blisters, Palmar hyperkeratosi... |
ORPHA:79397 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk... |
OMIM:257980 |
8Q22.1 Microdeletion Syndrome |
|
Long philtrum, Submucous cleft hard palate, Lack of skin elasticity, Abnormality of the dentition |
ORPHA:178303 |
Atelis Syndrome 1 |
|
Dry skin, Eczema, Attention deficit hyperactivity disorder |
OMIM:620184 |
Snakebite Envenomation |
|
Edema, Angioedema, Erythema, Neuromuscular dysphagia, Pseudobulbar paralysis, Ecchymosis |
ORPHA:449285 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lack of facial subcuta... |
ORPHA:90156 |
Ehlers-Danlos Syndrome, Hypermobility Type |
|
Soft skin, Hyperextensible skin, Striae distensae |
OMIM:130020 |
Hatipoglu Immunodeficiency Syndrome |
|
Eczema, Poor wound healing, Thickened skin, Atopic dermatitis, Premature graying of hair, Intraut... |
OMIM:620331 |
Rosaï-Dorfman Disease |
|
Erythema |
ORPHA:158014 |
Pseudoxanthoma Elasticum |
|
Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkled skin, Hyperextensible skin... |
ORPHA:758 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Acanthosis nigricans, Dry skin |
ORPHA:3085 |
Autosomal Dominant Prognathism |
|
Open bite, Everted lower lip vermilion |
ORPHA:2964 |
Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Umbilical hernia, Dry skin |
OMIM:275100 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Chronic mucocutaneous candidiasis... |
OMIM:618282 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... |
OMIM:148700 |
Nicolaides-Baraitser Syndrome |
|
Eczema, High, narrow palate, Wide mouth, Excessive wrinkled skin, Thin vermilion border, Everted ... |
ORPHA:3051 |
Acrogeria |
|
Telangiectasia of the skin, Excessive wrinkled skin, Prematurely aged appearance, Skin ulcer |
ORPHA:2500 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ectodermal dysplasia, Dry skin |
OMIM:129490 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Pruritus, Dermatographic urticaria, Generalized ichthyosis, Follicular hyperkerat... |
OMIM:608649 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Facial edema, Pruritus, Pustule, Chei... |
ORPHA:293173 |
Dowling-Degos Disease |
|
Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne inversa |
ORPHA:79145 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Polyhydramnios, Submucous cleft hard palate, Lack of skin elasticity... |
ORPHA:2671 |
Darier-White Disease |
|
Acrokeratosis, Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyperkeratotic fra... |
OMIM:124200 |
Developmental And Epileptic Encephalopathy 88 |
|
Hyperglutamatemia, Everted lower lip vermilion |
OMIM:618959 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Dry skin, Attention deficit hyperactivity disorder |
OMIM:617364 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Thickened skin, Erythema, Palmoplantar keratoderma, Skin ulcer |
ORPHA:659 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Folliculitis, Palmoplantar keratoderma, Facial erythema |
OMIM:612843 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Erythema |
ORPHA:79099 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Conical tooth, Abnormality of the dentitio... |
ORPHA:2228 |
Smith-Magenis Syndrome |
|
Everted upper lip vermilion, Hypertriglyceridemia, Hyperactivity, Abnormality of the dentition, V... |
OMIM:182290 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit... |
OMIM:259100 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Hyperlipidemia, High palate, Lack of skin elasticity, Abnormality of the dentition |
ORPHA:90153 |
Pierpont Syndrome |
|
Smooth philtrum, Prominent median palatal raphe, Thin vermilion border, Widely spaced teeth, Ever... |
OMIM:602342 |
Cutis Laxa, Autosomal Dominant 3 |
|
Intrauterine growth retardation, Premature skin wrinkling, Cutis laxa, Dermal translucency |
OMIM:616603 |
Dermoodontodysplasia |
|
Ectodermal dysplasia, Dry skin |
ORPHA:1660 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Neonatal death, Death in infancy, Congenital ichthyosiform erythroderma, Everted lower lip vermilion |
OMIM:242500 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum |
ORPHA:2429 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Oral leukoplakia, Follicular hyperkeratosis |
OMIM:148500 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ... |
OMIM:615508 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Dry skin |
ORPHA:248 |
Noonan Syndrome 8 |
|
Eczema, Polyhydramnios, Hyperkeratosis, Hyperextensible skin, Palmoplantar cutis laxa, Pleural ef... |
OMIM:615355 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Umbilical hernia, Dry skin |
ORPHA:1035 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Oligodontia, Everted lower lip vermilion, Anodontia |
ORPHA:276630 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Telangiectasia, Hyperkeratosis, Cutaneous photosensitivity, Congenital nonbullo... |
OMIM:601675 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Polyhydramnios, Edema, Pericardial effusion, Cutis laxa, Lower eyeli... |
ORPHA:363705 |
Bone Marrow Failure Syndrome 4 |
|
Dry skin, Eczema |
OMIM:618116 |
Baralle-Macken Syndrome |
|
Acanthosis nigricans, High, narrow palate, Striae distensae |
OMIM:619255 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Palmoplantar keratoderma, Scaling skin, Dry skin |
OMIM:618373 |
Cog7-Cdg |
|
Excessive wrinkled skin, Jaundice |
ORPHA:79333 |
Cog5-Cdg |
|
Intrauterine growth retardation, Premature skin wrinkling, Truncal ataxia, Oligohydramnios |
ORPHA:263487 |
Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Developmental And Epileptic Encephalopathy 23 |
|
Thick vermilion border, Everted lower lip vermilion, Short philtrum |
OMIM:615859 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Natal tooth, Eczema, Cleft palate, Short philtrum, Orthokeratosis, Acne... |
OMIM:617337 |
Aicardi-Goutieres Syndrome 1 |
|
Chilblains, Inability to walk, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Self-mutilati... |
OMIM:225750 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Tented upper lip vermilion, Macrodontia, Polyphagia, Self-injurious behavior, Ever... |
ORPHA:228402 |
Xeroderma Pigmentosum, Complementation Group F |
|
Cutaneous photosensitivity, Erythema, Ataxia |
OMIM:278760 |
Sunct Syndrome |
|
Restlessness, Palpebral edema, Facial edema, Facial erythema, Agitation, Flushing |
ORPHA:57145 |
Fixed Drug Eruption |
|
Erythema, Generalized abnormality of skin, Crusting erythematous dermatitis |
ORPHA:293812 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis |
ORPHA:281090 |
Radio-Tartaglia Syndrome |
|
Ataxia, Impulsivity, Aggressive behavior, Gait imbalance, Attention deficit hyperactivity disorde... |
OMIM:619312 |
Kcnq2-Related Epileptic Encephalopathy |
|
Inability to walk, Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
Omenn Syndrome |
|
Edema, Pruritus, Thickened skin, Erythroderma, Dry skin |
ORPHA:39041 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Erythema |
OMIM:610015 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu... |
OMIM:609242 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Gingival overgrowth, Downturned corners of mouth, Macroglossi... |
OMIM:618729 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Perianal erythema, Perioral erythema, Erythroderma |
OMIM:614328 |
Cofs Syndrome |
|
Death in infancy, Everted lower lip vermilion |
ORPHA:1466 |
Adiposis Dolorosa |
|
Recurrent skin infections, Telangiectasia of the skin, Xerostomia, Dry skin, Bruising susceptibility |
ORPHA:36397 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... |
ORPHA:182 |
Squalene Synthase Deficiency |
|
Intrauterine growth retardation, Cutaneous photosensitivity, Dry skin, Hypocholesterolemia |
OMIM:618156 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Skin rash, Ataxia, Aggressive behavior, Erythema, Gait ataxia, Death in childhood, Lethargy, Cere... |
OMIM:618321 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Poor wound healing, Meningocele, Facial erythema, Palmoplantar keratoderma, Scaling skin, Dry ski... |
ORPHA:1010 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Telangiectasia, Telangiectasia of the skin, Lymphedema |
ORPHA:79279 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Self-injurious behavior, Dry skin, Aggressive behavior |
OMIM:300860 |
Short Syndrome |
|
Intrauterine growth retardation, Premature skin wrinkling, Prominent superficial veins |
OMIM:269880 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Non-Distal Duplication 10Q |
|
Everted lower lip vermilion, High palate |
ORPHA:1695 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Perianal erythema, Perioral erythema, Lethargy, Dry skin |
OMIM:201100 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Dry skin, Punctate palmoplantar hyperkeratosis, Palmoplantar hyperkerat... |
ORPHA:69087 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Everted upper lip vermilion, Wide mouth, High palate, Short philtrum, Abnormal repetitive mannerisms |
ORPHA:280763 |
Polyarteritis Nodosa |
|
Erythema, Cutis marmorata, Skin ulcer |
ORPHA:767 |
Pachyonychia Congenita 1 |
|
Oral leukoplakia, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Conical primary incisor |
OMIM:602400 |
Maxillonasal Dysplasia |
|
Open bite, Cleft palate, Tooth agenesis, Microdontia, Striae distensae |
ORPHA:1248 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Umbilical hernia, Dry skin, Prolonged neonatal jaundice |
ORPHA:95715 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis |
OMIM:613102 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Cleft upper lip, Abnormality of the dentition, Cleft palate, Orofacial... |
ORPHA:915 |
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Acanthosis nigricans, Dry skin |
OMIM:268020 |
Immunoglobulin A Vasculitis |
|
Skin rash, Edema, Anorexia, Pustule, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising suscep... |
ORPHA:761 |
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities |
|
Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Long philtrum |
OMIM:619595 |
Monilethrix |
|
Follicular hyperkeratosis, Abnormality of the dentition |
ORPHA:573 |
Geroderma Osteodysplasticum |
|
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ... |
OMIM:231070 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Hyperactivity, Cleft lip, Cleft palate, Downturned corners of mouth, Everted lower lip vermilion,... |
OMIM:618089 |
Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Everted upper lip vermilion, Conical tooth, Oligodontia, Thick vermilion border, Periorbital wrin... |
OMIM:224900 |
Pemphigus Erythematosus |
|
Malar rash, Oral ulcer, Acantholysis |
ORPHA:79480 |
Distal Duplication 6P |
|
Intrauterine growth retardation, Dry skin |
ORPHA:1745 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Skin rash, Cutis marmorata, Pustule, Erythema, Livedo reticularis, Telangiectasia, Pustular rash,... |
OMIM:615934 |
Bachmann-Bupp Syndrome |
|
Attention deficit hyperactivity disorder, Dry skin, Polyhydramnios, Aggressive behavior |
OMIM:619075 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Hyperkeratosis, Short philtrum, Death in infancy |
ORPHA:163966 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Cleft lip, Cleft palate, Short philtrum, Everted lower lip vermilion |
OMIM:616898 |
Familial Melanoma |
|
Dry skin |
ORPHA:618 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Premature loss of permanent teeth, Hypertriglyceridemia, Orthokeratotic hyperkeratosis, Palmoplan... |
OMIM:610644 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Aggressive behavior, Thick l... |
OMIM:620075 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Eczema, Abnormality of the dentition, Xerostomia, Hyperkeratosis, Too... |
ORPHA:238468 |
Noonan Syndrome 13 |
|
Aggressive behavior, Lymphedema, Head-banging, Attention deficit hyperactivity disorder, Dry skin... |
OMIM:619087 |
Mitral Valve Prolapse 1 |
|
High, narrow palate, High palate, Striae distensae |
OMIM:157700 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Ataxia, Erythema, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
Kleefstra Syndrome 2 |
|
Self-injurious behavior, Everted lower lip vermilion, Bifid uvula |
OMIM:617768 |
Acrodermatitis Enteropathica |
|
Anorexia, Pustule, Erythema, Skin ulcer, Dry skin, Generalized abnormality of skin |
ORPHA:37 |
Mucolipidosis Type Iv |
|
Microdontia, Palmoplantar keratoderma, Everted lower lip vermilion |
ORPHA:578 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Natal tooth, Acantholysis |
OMIM:609638 |
Intellectual Developmental Disorder, Autosomal Dominant 62 |
|
Striae distensae |
OMIM:618793 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Rheumatic Fever |
|
Erythema, Gait disturbance, Pallor, Anorexia |
ORPHA:3099 |
Subcorneal Pustular Dermatosis |
|
Pruritus, Erythema, Pustule |
ORPHA:48377 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Erythema, Hyperkeratosis, Mild intrauterine growth retardation, Congenital ichthyo... |
OMIM:308050 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Everted lower lip vermilion, Short philtrum, Attention deficit hyperactivity disorder, Long philtrum |
OMIM:619556 |
8Q12 Microduplication Syndrome |
|
Long philtrum, Everted lower lip vermilion, Attention deficit hyperactivity disorder, Narrow mouth |
ORPHA:228399 |
Fountain Syndrome |
|
Cutis marmorata, Spina bifida, Facial edema, Erythema, Spina bifida occulta |
ORPHA:3219 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Abnormal spaced incisors, Thick vermilion border, Everted lower lip vermilion, Short philtrum, Ab... |
ORPHA:411986 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Ddost-Cdg |
|
Dry skin |
ORPHA:300536 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Hyperkeratosis |
ORPHA:1883 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Acanthosis nigricans, Dry skin |
OMIM:262190 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... |
OMIM:619736 |
Cardiofaciocutaneous Syndrome 3 |
|
Wide mouth, Hyperkeratosis |
OMIM:615279 |
Arthrogryposis Multiplex Congenita 5 |
|
Death in infancy, Akinesia, Polyhydramnios, Umbilical hernia, Premature skin wrinkling, Intrauter... |
OMIM:618947 |
Den Hoed-De Boer-Voisin Syndrome |
|
Ataxia, Inability to walk, Death in adolescence, Agitation, Dysphagia, Intrauterine growth retard... |
OMIM:619229 |
Agel Amyloidosis |
|
Ataxia, Edema, Pruritus, Xerostomia, Cutis laxa, Blepharochalasis, Dry skin, Dermatological manif... |
ORPHA:85448 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Downturned corners of mouth, Wide mouth, Everted lower lip vermilion, W... |
OMIM:618067 |
Trichodysplasia-Xeroderma Syndrome |
|
Dry skin |
ORPHA:3361 |
Juvenile Dermatomyositis |
|
Skin rash, Palpebral edema, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer, Cutaneous... |
ORPHA:93672 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hyperactivity, Aggressive behavior, Thick lower lip vermilion, Wide mouth, Macroglossia, Striae d... |
OMIM:300354 |
Peroxisome Biogenesis Disorder 14B |
|
Dry skin |
OMIM:614920 |
Leopard Syndrome 2 |
|
Dry skin |
OMIM:611554 |
Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
ORPHA:189 |
Nicolaides-Baraitser Syndrome |
|
Eczema, Aggressive behavior, Gait ataxia, Excessive wrinkled skin, Periorbital wrinkles, Attentio... |
OMIM:601358 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Hypophosphatemia |
ORPHA:2611 |
Neutrophilic Dermatosis, Acute Febrile |
|
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa |
OMIM:608068 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Prematurely aged appearance, Skin rash, Ataxia, Urticaria, Cutaneous photosensitivity, Dry skin |
ORPHA:220295 |
Refsum Disease |
|
Dry skin, Ataxia, Ichthyosis |
ORPHA:773 |
Temple-Baraitser Syndrome |
|
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Gingival over... |
ORPHA:420561 |
Pachyonychia Congenita |
|
Natal tooth, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmop... |
ORPHA:2309 |
Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Decreased adipose tissue around neck, ... |
OMIM:606721 |
Incontinentia Pigmenti |
|
Skin rash, Telangiectasia of the skin, Erythema, Skin ulcer, Hyperkeratosis, Gait disturbance, At... |
ORPHA:464 |
Immunodeficiency 55 |
|
Recurrent skin infections, Eczema, Ichthyosis, Intrauterine growth retardation, Dry skin |
OMIM:617827 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Umbilical hernia, Dry skin, Prolonged neonatal jaundice |
ORPHA:226313 |
German Syndrome |
|
Lymphedema, Orofacial cleft, Everted lower lip vermilion, High palate, Dysphagia, Open mouth |
ORPHA:2077 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Everted lower lip vermilion |
OMIM:278200 |
Tangier Disease |
|
Dry skin, Hypertriglyceridemia |
OMIM:205400 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Carious teeth, Congenital ichthyosiform erythroderma, Congenital nonbullous ichthyos... |
OMIM:616395 |
Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Telangiectasia, Hyperkeratosis, Scaling skin |
ORPHA:454831 |
Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Ataxia, Telangiectasia of the skin, Thickened skin, Erythema, Telang... |
ORPHA:910 |
Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema |
OMIM:106100 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Elevated circulating creatine kinase concentration, Edema, Car... |
OMIM:604173 |
Atypical Werner Syndrome |
|
Hypertriglyceridemia, Lack of skin elasticity, Skin ulcer, Hyperkeratosis, Thin vermilion border,... |
ORPHA:79474 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Eczema, Pustule, Erythema, Xerostomia, Skin ulcer, Palmoplantar hyper... |
ORPHA:2907 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Ataxia, Progeroid facial appearance, Inability to walk, Excessive wrinkled skin, Athetosis, Intra... |
ORPHA:357058 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Hyperactivity, Tented upper lip vermilion, Exaggerated cupid's bow, Narrow mouth, Deep philtrum, ... |
OMIM:619720 |
Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Pruritus, Thickened skin, Erythema, Urticaria, Skin vesicle |
ORPHA:2135 |
Cardiofaciocutaneous Syndrome |
|
Redundant skin, Lymphedema, Excessive wrinkled skin, Hyperkeratosis, Palmoplantar keratoderma, Ic... |
ORPHA:1340 |
Geleophysic Dysplasia 1 |
|
Thickened skin, Lack of skin elasticity, Wide mouth, Long philtrum, Smooth philtrum |
OMIM:231050 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition |
ORPHA:1387 |
Mednik Syndrome |
|
Death in infancy, Erythema, Ichthyosis, Death in childhood, Neonatal death |
OMIM:609313 |
Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis, Ectodermal dysplasia, Dry skin |
OMIM:601701 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis, Skin ulcer, Abnormality of the dentition |
ORPHA:1806 |
Noonan Syndrome 5 |
|
Dry skin, Polyhydramnios |
OMIM:611553 |
Recon Progeroid Syndrome |
|
Progeroid facial appearance, Livedo reticularis, Dry skin, Scaling skin, Cutaneous photosensitivity |
OMIM:620370 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Hyperactivity, Tongue thrusting, Pica, Downturned corners of mouth, Stereotypical body rocking, E... |
OMIM:617865 |
Hengel-Maroofian-Schols Syndrome |
|
Thick vermilion border, Short philtrum, Widely spaced teeth, Everted lower lip vermilion, Tooth m... |
OMIM:619641 |
Weill-Marchesani Syndrome 2 |
|
Thickened skin, Lack of skin elasticity, Narrow palate, High palate, Tooth malposition, Striae di... |
OMIM:608328 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli... |
OMIM:615726 |
Adult-Onset Still Disease |
|
Pruritus, Joint swelling, Erythema, Skin rash |
ORPHA:829 |
Fg Syndrome Type 1 |
|
Broad-based gait, Facial wrinkling, Compulsive behaviors, Attention deficit hyperactivity disorde... |
ORPHA:93932 |
Netherton Syndrome |
|
Hypernatremic dehydration, Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Urticari... |
OMIM:256500 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Hyperextensible skin, Petechiae, Striae distensae |
OMIM:225310 |
Corneodermatoosseous Syndrome |
|
Thickened skin, Erythema, Palmoplantar keratoderma |
ORPHA:3194 |
Pituitary Adenoma 4, Acth-Secreting |
|
Edema, Poor wound healing, Facial erythema, Ecchymosis, Bruising susceptibility, Striae distensae... |
OMIM:219090 |
Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v... |
ORPHA:1515 |
Hydroxykynureninuria |
|
Dry skin, Abnormal repetitive mannerisms |
ORPHA:79155 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Long philtrum |
OMIM:615225 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Abnormal soft palate morphology, Downturned ... |
ORPHA:884 |
Spinocerebellar Ataxia 34 |
|
Ataxia, Epidermal hyperkeratosis, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Erythroderma |
OMIM:133190 |
Uremic Pruritus |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Generalized ... |
ORPHA:94059 |
Ataxia-Telangiectasia |
|
Prematurely aged appearance, Ataxia, Telangiectasia of the skin, Premature graying of hair, Gait ... |
ORPHA:100 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Skin rash, Elevated circulating C-reactive protein concentration, Pustule, Hyperkeratosis, Joint ... |
OMIM:612852 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Hypertriglyceridemia, Hypercholesterolemia, Premature graying of hair, Scleroderma, Premature ski... |
ORPHA:363618 |
Ameloonychohypohidrotic Syndrome |
|
Dry skin, Seborrheic dermatitis |
OMIM:104570 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Hypercholesterolemia, Facial edema, Attention deficit hyperactivity disorder, Prolonged neonatal ... |
ORPHA:90674 |
Toxic Epidermal Necrolysis |
|
Acantholysis, Erythema, Skin ulcer, Dysphagia, Polydipsia |
ORPHA:537 |
Jung Syndrome |
|
Dry skin |
ORPHA:2321 |
Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Ascites, Facial erythema |
ORPHA:284227 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Thin upper lip vermilion, Thin vermilion border, Everted lower lip vermilion, High palate, Short ... |
ORPHA:3041 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Nizon-Isidor Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, High, narrow palate, Upper eyelid edema, Downturne... |
OMIM:618872 |
Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased circulating... |
OMIM:610475 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Lymphedema, Epidermal hyperkeratosis, Thick vermilion... |
OMIM:137940 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Death in early adulthood, Abnormal dental morphology, Redundant skin, ... |
ORPHA:192 |
Familial Cervical Artery Dissection |
|
Abnormal circulating lipid concentration, Striae distensae |
ORPHA:36382 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Premature skin wrinkling, Dysphagia, Oligohydramnios |
OMIM:601559 |
Aicardi-Goutieres Syndrome 9 |
|
Chilblains, Edema, Pericardial effusion, Ascites, Intrauterine growth retardation, Dry skin, Self... |
OMIM:619487 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Microdontia, Everted upper lip vermilion, Everted lower lip vermilion |
ORPHA:181 |
Sialidosis Type 1 |
|
Hyperkeratosis, Ataxia, Gait disturbance, Vascular skin abnormality |
ORPHA:812 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Perianal erythema, Eczema, R... |
OMIM:308205 |
Xfe Progeroid Syndrome |
|
Prematurely aged appearance, Dry skin, Death in adolescence, Cutaneous photosensitivity, Ascites |
OMIM:610965 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Oral mucosal blisters, Pruritus, Carious teeth, Palmoplantar keratoderma, Skin vesicle, Enamel hy... |
ORPHA:79410 |
Immunodeficiency 23 |
|
Ataxia, Eczema, Erythema, Chronic mucocutaneous candidiasis, Vasculitis in the skin, Molluscum co... |
OMIM:615816 |
Pearson Marrow-Pancreas Syndrome |
|
Anorexia, Erythema, Hydrops fetalis, Dehydration, Death in childhood, Pallor, Steatorrhea, Lethargy |
OMIM:557000 |
Microscopic Polyangiitis |
|
Cutis marmorata, Skin rash, Erythema, Skin ulcer, Subcutaneous hemorrhage |
ORPHA:727 |
Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Everted lower lip vermilion, Ichthyosis |
OMIM:242510 |
Donohue Syndrome |
|
Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Hyperkeratosis, Acanthosis nigricans |
OMIM:246200 |
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa |
|
Increased number of skin folds, Redundant skin, Cutis laxa |
ORPHA:436274 |
Koolen-De Vries Syndrome |
|
Abnormal dental enamel morphology, Abnormality of the dentition, High, narrow palate, Cleft palat... |
ORPHA:96169 |
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies |
|
High, narrow palate, Thick vermilion border, Everted lower lip vermilion, Short philtrum, Long ph... |
OMIM:619880 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Facial erythema |
OMIM:618307 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Thin upper lip vermilion, Tented upper lip vermilion, Everted lower lip vermilion, High palate, S... |
OMIM:616579 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Everted lower lip vermilion |
OMIM:249670 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Downturned corners of mouth, Thin upper lip vermilion, Everted lower lip vermilion, Long philtrum |
OMIM:615162 |
Thanatophoric Dysplasia Type 1 |
|
Redundant skin, Polyhydramnios, Increased nuchal translucency, Excessive wrinkled skin, Acanthosi... |
ORPHA:1860 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash |
ORPHA:398124 |
Non-Distal Duplication 13Q |
|
Abnormality of the dentition, Thin vermilion border, High palate, Everted lower lip vermilion, Lo... |
ORPHA:1702 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent superficial veins, Cutis laxa, Excessive wrinkled skin, Athetosis, Intrauterine growth ... |
OMIM:614438 |
Alg11-Cdg |
|
Dry skin, Ataxia |
ORPHA:280071 |
9P13 Microdeletion Syndrome |
|
Umbilical hernia, Dry skin, Attention deficit hyperactivity disorder, Bruxism |
ORPHA:324313 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Pustule, Angioedema, Erythema, Erythroderma |
ORPHA:139402 |
Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Intrauterine growth retardation, Progeroid facial appearance |
ORPHA:50811 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Downturned corners of mouth, Hyperextensible skin, Short phil... |
OMIM:619950 |
Williams-Beuren Syndrome (WBS) |
|
Microdontia, Everted lower lip vermilion |
DECIPHER:3 |
Xq12-Q13.3 Duplication Syndrome |
|
Eczema, Elevated circulating creatine kinase concentration, Bulimia, Agitation, Everted lower lip... |
ORPHA:314389 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Thin upper lip vermilion, Thick lower lip vermilion, Gingival overgrowth, Cleft palate, Downturne... |
OMIM:220500 |
Ifap Syndrome 2 |
|
Ichthyosis follicularis, Perioral erythema |
OMIM:619016 |
Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Redundant skin, Cutis laxa, Umb... |
ORPHA:2963 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Premature graying of hair, Intrauterine growth retardation, Dry skin, Ataxia |
OMIM:613990 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Everted upper lip vermilion, Aggressive behavior, Wide mouth, Widely spaced teeth, Oligohydramnios |
OMIM:619056 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Decreased circulating plasmalogen concentration, Submucous cleft hard palate, High palate |
OMIM:222765 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Thin upper lip vermilion, Everted upper lip vermilion, Deep philtrum, Pierre-Robin sequence, Ging... |
OMIM:618381 |
Diencephalic Syndrome |
|
Everted lower lip vermilion |
ORPHA:1672 |
Incontinentia Pigmenti |
|
Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor |
OMIM:308300 |
Lig4 Syndrome |
|
Cutaneous photosensitivity, Erythema, Telangiectasia of the skin |
ORPHA:99812 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Abnormal dental morphology, Abnormality of the dentition,... |
ORPHA:158668 |
19Q13.11 Microdeletion Syndrome |
|
Intrauterine growth retardation, Dry skin |
ORPHA:217346 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Everted lower lip vermilion, High palate, Long philtrum |
OMIM:616549 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dysphagia, Cutaneo... |
ORPHA:2908 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Furrowed tongue, Hyperkeratosis, Ichthyosis, Microdontia, Or... |
OMIM:148210 |
Nodular Non-Suppurative Panniculitis |
|
Erythema, Edema |
ORPHA:33577 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Dry skin, Aggressive behavior |
OMIM:619244 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Thin upper lip vermilion, Everted lower lip vermilion, Long philtrum |
ORPHA:357175 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Erythema, Palmoplantar keratoderma, Generalized abnormality of skin, F... |
ORPHA:79396 |
Stevens-Johnson Syndrome |
|
Erythema, Dysphagia, Acantholysis |
ORPHA:36426 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Intrauterine growth retardation, Dry skin |
OMIM:613026 |
Melanocytic Nevus Syndrome, Congenital |
|
Deep philtrum, Everted lower lip vermilion, Open mouth, Long philtrum |
OMIM:137550 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Primary hypercortisolism, Increased circulating cortisol level, Agitation, Striae distensae |
OMIM:219080 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Eclabion, Hypertriglyceridemia, Congenital nonbullous ichthyosiform erythroderma, Abnormal circul... |
ORPHA:98907 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Lethargy, Dry skin, Prolonged neonatal jaundice |
ORPHA:99832 |
Trichothiodystrophy |
|
Congenital exfoliative erythroderma, Prematurely aged appearance, Eczema, Gait ataxia, Cutaneous ... |
ORPHA:33364 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Dry skin, Gait disturbance, Polyhydramnios |
ORPHA:1812 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Thin upper lip vermilion, Aggressive behavior, Downturned corners of mouth, Macroglossia, Wide mo... |
OMIM:156200 |
Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Mildly elevated c... |
OMIM:617982 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis |
ORPHA:1809 |
Megalocornea-Intellectual Disability Syndrome |
|
Everted lower lip vermilion, High palate, Short philtrum, Hypercholesterolemia, Open mouth, Abnor... |
ORPHA:2479 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Protruding tongue, Diastema, Aggressive behavior, Gingival overgrowth, Wide mouth, T... |
OMIM:212066 |
Hoyeraal-Hreidarsson Syndrome |
|
Excessive wrinkled skin, Intrauterine growth retardation, Ataxia, Premature graying of hair |
ORPHA:3322 |
Chime Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Erythema, Skin ulc... |
ORPHA:3474 |
Proximal Xq28 Duplication Syndrome |
|
Tented upper lip vermilion, Everted lower lip vermilion |
ORPHA:1762 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Erythema, Edema |
OMIM:619183 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a... |
OMIM:612289 |
Braddock-Carey Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Everted lower lip vermilion, Thick vermilion border, U-Shape... |
OMIM:619980 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Everted lower lip vermilion, Thick vermilion border, Elevated circulating creatine kinase concent... |
OMIM:300280 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Erythema, Sca... |
ORPHA:294023 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Tongue thrusting, Self-injurious behavior, Stereotypical body rocking, Bruxism, Dr... |
ORPHA:261323 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Oligohydramnios, Cleft palate, Acantholysis |
ORPHA:158687 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Ectodermal dysplasia, Dry skin, Xerostomia, Periorbital wrinkles |
OMIM:614941 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Erythema |
OMIM:614878 |
Rapp-Hodgkin Syndrome |
|
Anhidrotic ectodermal dysplasia, Palmoplantar keratoderma, Dry skin |
OMIM:129400 |
Noonan Syndrome 14 |
|
Dry skin, Bruising susceptibility, Polyhydramnios |
OMIM:619745 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased circulating... |
OMIM:610489 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Palpebral edema, Macroglossia, Everted lower lip vermilion, Abnormal ... |
ORPHA:261144 |
Mass Syndrome |
|
Striae distensae |
OMIM:604308 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Excessive wrinkled skin, Intrauterine growth retardation, Redundant skin, Cutis laxa |
OMIM:219200 |
Scholte Syndrome |
|
Everted lower lip vermilion |
OMIM:300977 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Hypoammonemia, Deep philtrum, Gingivitis, Dehydration, Periodontitis, Compulsive... |
ORPHA:534 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Violent behavior, Cleft lip, Thick lower lip vermilion, Palmoplantar h... |
OMIM:280000 |
Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Dry skin |
ORPHA:3157 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Premature graying of hair, Acanthosis nigricans, Intrauterin... |
ORPHA:769 |
Koolen-De Vries Syndrome |
|
Hyperactivity, Eczema, Impulsivity, Intrauterine growth retardation, Dry skin |
OMIM:610443 |
Barber-Say Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin, Dermal translucency |
OMIM:209885 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Thin upper lip vermilion, Dental crowding, Pierre-Robin sequence, Anterior open-bite malocclusion... |
OMIM:617877 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Hyperkeratosis, Thick vermilio... |
ORPHA:79280 |
Chikungunya |
|
Maculopapular exanthema, Skin rash, Facial edema, Pruritus, Erythema nodosum, Erythema, Crusting ... |
ORPHA:324625 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Ataxia, Eczema, Aggressive behavior, Inability to walk, Bruxism, Dry skin |
OMIM:617799 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Dry skin |
OMIM:618797 |
Late-Onset Isolated Acth Deficiency |
|
Lethargy, Decreased circulating cortisol level, Dry skin, Anorexia |
ORPHA:199299 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
Axenfeld-Rieger Syndrome |
|
Microdontia, Everted lower lip vermilion, Redundant skin, Hypodontia |
ORPHA:782 |
Noonan Syndrome 10 |
|
Increased nuchal translucency, Hyperkeratosis, Hyperextensible skin, High palate, Palmoplantar cu... |
OMIM:616564 |
Tooth Agenesis, Selective, 4 |
|
Dry skin, Palmar hyperkeratosis |
OMIM:150400 |
Gcgr-Related Hyperglucagonemia |
|
Necrolytic migratory erythema |
ORPHA:438274 |
Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:601214 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Redundant skin, Abnormal subcutaneous fat tissue distribution, Prominent vei... |
ORPHA:357074 |
Fucosidosis |
|
Angiokeratoma, Dry skin, Bruising susceptibility, Spastic gait, Petechiae |
OMIM:230000 |
Focal Facial Dermal Dysplasia Type Iii |
|
Prematurely aged appearance, Redundant skin |
ORPHA:1807 |
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin |
|
Thin upper lip vermilion, Self-injurious behavior, Recurrent hand flapping, Everted lower lip ver... |
OMIM:617101 |
Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard pala... |
OMIM:115150 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Intrauterine growth retardation, Dry skin, Attention deficit hyperactivity disorder |
ORPHA:2637 |
Char Syndrome |
|
Persistence of primary teeth, No permanent dentition, Thick vermilion border, Everted lower lip v... |
ORPHA:46627 |
Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Intrauterine growth... |
ORPHA:90348 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Downturned corners of mouth, Hyperkeratosis, Short philtrum, Dysphagia |
OMIM:615510 |
Ullrich Congenital Muscular Dystrophy 1 |
|
High palate, Mildly elevated creatine kinase, Follicular hyperkeratosis |
OMIM:254090 |
Adrenocortical Carcinoma |
|
Paradoxical increased cortisol secretion on dexamethasone suppression test, Increased circulating... |
ORPHA:1501 |
De Barsy Syndrome |
|
Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, Athet... |
ORPHA:2962 |
Kleefstra Syndrome 1 |
|
Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive behavior, Macroglossia, ... |
OMIM:610253 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Wide mouth, Macroglossia, Open mouth, Everted lower lip vermilion |
OMIM:616789 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Hyperlipidemia,... |
ORPHA:189427 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Hyperkeratosis, Abnormal dental enamel morphology, Ichthyosis |
ORPHA:1005 |
Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Porokeratosis, Facial edema, Erythema, Facial erythema |
ORPHA:221016 |
Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Eczema, Oral ulcer, Downturned corners of mouth, Hyperkeratosis, Hypodontia, Micro... |
OMIM:617052 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Dry skin, Hypohidrotic ectodermal dysplasia |
OMIM:614940 |
Noonan Syndrome 2 |
|
Polyhydramnios, Increased nuchal translucency, Hyperkeratosis, Hyperextensible skin, High palate,... |
OMIM:605275 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin |
ORPHA:137608 |
Ogden Syndrome |
|
Redundant neck skin, Pulmonary edema, Redundant skin, Facial wrinkling, Eczema, Lymphedema, Prema... |
OMIM:300855 |
Bainbridge-Ropers Syndrome |
|
Thin upper lip vermilion, Death in infancy, Dental crowding, Polyhydramnios, Gingival overgrowth,... |
OMIM:615485 |
Adult Syndrome |
|
Ectodermal dysplasia, Cutaneous photosensitivity, Dry skin, Eczema |
OMIM:103285 |
Keppen-Lubinsky Syndrome |
|
Progeroid facial appearance, Premature skin wrinkling, Polyhydramnios |
ORPHA:435628 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent scalp veins, Hypertriglyceridemia, Prematurely age... |
OMIM:264090 |
Prader-Willi Syndrome Due To Translocation |
|
Thin upper lip vermilion, Carious teeth, Alveolar ridge overgrowth, Cleft palate, Microdontia of ... |
ORPHA:177907 |
Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Ataxia, Inability to walk, Progressive gait ataxia, Cutaneou... |
ORPHA:191 |
Dubowitz Syndrome |
|
Cutis marmorata, Eczema, Dry skin, Cutaneous photosensitivity, Attention deficit hyperactivity di... |
ORPHA:235 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Everted upper lip vermilion, Abnormal oral mucosa morphology, Eczema, Conical tooth, Taurodontia,... |
OMIM:305100 |
Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Natal tooth, Angular cheilitis, Palmoplantar hyperkeratosis, Folliculit... |
OMIM:167210 |
Helix Syndrome |
|
Polydipsia, Dry skin, Xerostomia |
OMIM:617671 |
Dermatomyositis |
|
Telangiectasia of the skin, Edema, Periorbital edema, Pruritus, Erythema, Skin ulcer, Acrocyanosi... |
ORPHA:221 |
Wagr Syndrome |
|
Everted lower lip vermilion |
ORPHA:893 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... |
ORPHA:740 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Broad-based gait, Cutis marmorata, Progeroid facial appearance, Gait ataxia, Intrauterine growth ... |
OMIM:300953 |
Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Porokeratosis, Facial edema, Facial erythema, Telangiectasia, Attention d... |
ORPHA:221008 |
Kikuchi-Fujimoto Disease |
|
Skin rash, Palpebral edema, Ataxia, Anorexia, Pruritus, Pustule, Erythema, Cutaneous photosensiti... |
ORPHA:50918 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Ataxia, Erythema, Telangiectasia, Gait disturbance, Scaling skin |
ORPHA:420741 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Protruding tongue, Stereotypical hand wringing, Upper eyelid edema, Everted lower lip vermilion, ... |
OMIM:617804 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Redundant skin, Cutis laxa, Lack of skin elasticity |
ORPHA:90349 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... |
OMIM:616367 |
Warburg-Cinotti Syndrome |
|
Poor wound healing, Joint swelling, Erythema, Follicular hyperkeratosis |
OMIM:618175 |
Heart And Brain Malformation Syndrome |
|
Polyhydramnios, High, narrow palate, Cleft lip, Thick lower lip vermilion, Everted lower lip verm... |
OMIM:616920 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Hyperactivity, Eczema, Polyhydramnios, Hyperkeratosis, Hyperextensible skin, High palate, Attenti... |
OMIM:607721 |
Body Skin Hyperlaxity Due To Vitamin K-Dependent Coagulation Factor Deficiency |
|
Redundant skin, Cutis laxa |
ORPHA:91135 |
Opitz-Kaveggia Syndrome |
|
Umbilical hernia, Attention deficit hyperactivity disorder, Facial wrinkling |
OMIM:305450 |
Microcephaly-Deafness-Intellectual Disability Syndrome |
|
Everted lower lip vermilion, Abnormal palate morphology |
ORPHA:2533 |
Localized Scleroderma |
|
Thickened skin, Erythema |
ORPHA:90289 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Thickened skin, Skin ulcer, Scaling skin, Chylothorax, Pleural effusion, Dry s... |
ORPHA:2526 |
Branchio-Oculo-Facial Syndrome |
|
Deep philtrum, Non-midline cleft lip, Orofacial cleft, Tooth agenesis, High palate, Everted lower... |
ORPHA:1297 |
Hallermann-Streiff Syndrome |
|
Hyperactivity, Spina bifida, Telangiectasia, Choreoathetosis, Dry skin |
OMIM:234100 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Everted lower lip vermilion, High palate, Attentio... |
OMIM:612513 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Soft skin, Hyperextensible skin, Striae distensae |
OMIM:606408 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Umb... |
OMIM:618000 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance |
OMIM:227260 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent scalp veins, Hypertriglyceridemia, Recurrent skin ... |
ORPHA:3455 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Ataxia, Prematurely aged appearance, Progeroid facial appear... |
OMIM:133540 |
2P15P16.1 Microdeletion Syndrome |
|
Polyhydramnios, Dysphagia, Everted lower lip vermilion, High palate, Attention deficit hyperactiv... |
ORPHA:261349 |
Eec Syndrome |
|
Hyperkeratosis, Dry skin, Xerostomia |
ORPHA:1896 |
Kleefstra Syndrome |
|
Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavi... |
ORPHA:261494 |
Chanarin-Dorfman Syndrome |
|
Everted lower lip vermilion, Congenital nonbullous ichthyosiform erythroderma |
OMIM:275630 |
Vipoma |
|
Anorexia, Erythema, Dehydration, Intermittent jaundice, Increased circulating cortisol level, Asc... |
ORPHA:97282 |
X-Linked Intellectual Disability, Shashi Type |
|
Everted lower lip vermilion, Palpebral edema |
ORPHA:85286 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, High, narrow palate, Everted lower lip vermilion, Open mouth, Recurrent hand fla... |
ORPHA:352577 |
Bethlem Myopathy |
|
Hyperkeratosis, Elevated circulating creatine kinase concentration |
ORPHA:610 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Poor wound healing, Excessive wrinkled skin, Follicular hyperkeratosis, Palmoplantar cutis laxa, ... |
OMIM:225400 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Thickened skin, Narrow philtrum, Palmoplantar hyperkeratosis, Corneal ... |
OMIM:601812 |
Familial Tumoral Calcinosis |
|
Erythema, Skin rash |
ORPHA:53715 |
Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis |
ORPHA:2583 |
Laron Syndrome |
|
Hypercholesterolemia, Prematurely aged appearance |
ORPHA:633 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Abnormality of the dentition, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Everted... |
ORPHA:85321 |
Acquired Partial Lipodystrophy |
|
Progeroid facial appearance |
ORPHA:79087 |
3Q29 Microdeletion Syndrome |
|
Dental crowding, Abnormality of the dentition, Aggressive behavior, Orofacial cleft, High palate,... |
ORPHA:65286 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Ataxia, Progeroid facial appear... |
OMIM:216400 |
Gapo Syndrome |
|
Delayed eruption of teeth, Palpebral edema, Hyperextensible skin, Everted lower lip vermilion, Lo... |
ORPHA:2067 |
Menkes Disease |
|
Thickened skin, Spontaneous hematomas, Prolonged neonatal jaundice, Umbilical hernia, Dry skin, I... |
ORPHA:565 |
Acute Adrenal Insufficiency |
|
Decreased circulating cortisol level, Dry skin, Salt craving, Anorexia |
ORPHA:95409 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Tented upper lip vermilion, Short philtrum, Everted lower lip vermilion, Open mout... |
OMIM:617281 |
Tatton-Brown-Rahman Syndrome |
|
Everted upper lip vermilion, Deep philtrum, Thin vermilion border, Exaggerated cupid's bow |
OMIM:615879 |
Fryns-Smeets-Thiry Syndrome |
|
Thick lower lip vermilion, Wide mouth, Downturned corners of mouth, Everted lower lip vermilion, ... |
ORPHA:2058 |
Malan Syndrome |
|
Advanced eruption of teeth, Everted lower lip vermilion, Gingival overgrowth, Narrow mouth |
OMIM:614753 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Excessive wrinkled skin, Intrauterine growth retardation, Jaundice, Death in infancy |
OMIM:608779 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Intrauterine growth retardation, Progeroid facial appearance |
OMIM:608154 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Ascites, Cutis laxa |
OMIM:301045 |
Bloom Syndrome |
|
Malar rash, Facial erythema, Intrauterine growth retardation, Cutaneous photosensitivity, Facial ... |
OMIM:210900 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Everted lower lip vermilion, Upper eyelid edema |
OMIM:616819 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Cutis marmorata |
OMIM:301220 |
Scleromyxedema |
|
Aged leonine appearance, Pruritus, Thickened skin, Dysphagia, Generalized abnormality of skin, Sc... |
ORPHA:167635 |
Chronic Graft Versus Host Disease |
|
Anorexia, Poor wound healing, Thickened skin, Erythema, Xerostomia, Skin ulcer, Pleural effusion,... |
ORPHA:99921 |
Acrofrontofacionasal Dysostosis |
|
Non-midline cleft lip, Everted lower lip vermilion, High palate, Cleft palate |
ORPHA:1784 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... |
OMIM:616449 |
Cranioectodermal Dysplasia 3 |
|
Ectodermal dysplasia, Dry skin, Cutis laxa |
OMIM:614099 |
Nestor-Guillermo Progeria Syndrome |
|
Prominent superficial veins, Dry skin, Progeroid facial appearance |
OMIM:614008 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate, Polyhydramnios, Cutis laxa, Hyperextensible skin, Follicular hyperkeratosis, S... |
OMIM:614557 |
Moebius Syndrome |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Ev... |
ORPHA:570 |
Glucagonoma |
|
Skin rash, Anorexia, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Increased ci... |
ORPHA:97280 |
Xp21 Deletion Syndrome |
|
Hypertriglyceridemia, Everted lower lip vermilion, Elevated circulating creatine kinase concentra... |
ORPHA:261476 |
Loeys-Dietz Syndrome 4 |
|
High, narrow palate, Hyperextensible skin, High palate, Broad uvula, Bifid uvula, Striae distensae |
OMIM:614816 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Aggressive behavior, Thickened skin, Dental malocclusion, Epidermal thickening, Loca... |
ORPHA:73223 |
Fabry Disease |
|
Anorexia, Lymphedema, Hyperlipidemia, Thick lower lip vermilion, Hyperkeratosis, Abnormal circula... |
ORPHA:324 |
X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent cutaneous abscess formation, Aggressive behavior, Compulsive behaviors, Dry skin, Oligo... |
ORPHA:163956 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Thin upper lip vermilion, Long philtrum, Eczema, Cutis laxa |
OMIM:619691 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Progeroid facial appearance, Unsteady gait, Limb ataxia, Dysphagia, Gait disturbance, Difficulty ... |
ORPHA:412057 |
Leprechaunism |
|
Thickened skin, Hyperkeratosis, Hypokalemia, Hyperextensible skin, Thick vermilion border, Hypera... |
ORPHA:508 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Intrauterine growth retardation, Erythema |
OMIM:614653 |
Trisomy 20P |
|
Smooth philtrum, Abnormality of the dentition, Downturned corners of mouth, Thin vermilion border... |
ORPHA:261318 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance... |
OMIM:615873 |
Ogden Syndrome |
|
High, narrow palate, Everted upper lip vermilion, Cutis laxa |
ORPHA:276432 |
Blau Syndrome |
|
Skin rash, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swelling, Ichthyosis, Dry skin |
ORPHA:90340 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Thick vermilion border, Everted lower lip vermilion, High palate, Shor... |
OMIM:615866 |
Fucosidosis |
|
Generalized hyperkeratosis, Abnormality of the dentition |
ORPHA:349 |
Trisomy 8Q |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ... |
ORPHA:1752 |
Focal Dermal Hypoplasia |
|
Umbilical hernia, Erythema, Telangiectasia of the skin, Spina bifida |
ORPHA:2092 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Ataxia, Progeroid facial appearance, Unsteady gait, Cutaneous telang... |
OMIM:615919 |
Mucopolysaccharidosis, Type Iiic |
|
Hyperactivity, Everted lower lip vermilion, Dysphagia |
OMIM:252930 |
Melas |
|
Erythema, Gait disturbance, Ataxia |
ORPHA:550 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Dry skin, Pallor |
ORPHA:91355 |
Werner Syndrome |
|
Hypertriglyceridemia, Prematurely aged appearance, Progeroid facial appearance, Subcutaneous calc... |
OMIM:277700 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Everted upper lip vermilion, Short philtrum |
OMIM:619824 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Tented upper lip vermilion, Aggressive behavior, Hair-pulling, Downturned corners of mouth, Self-... |
OMIM:616393 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Broad-based gait, Fetal ascites, Impulsivity, Erythema, Atop... |
OMIM:619503 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Tented upper lip vermilion, Abnormality of the dentition, Thick lower lip vermi... |
ORPHA:847 |
Behcet Syndrome |
|
Erythema nodosum, Erythema |
OMIM:109650 |
Trisomy 12P |
|
Downturned corners of mouth, Everted lower lip vermilion, Cleft palate |
ORPHA:1699 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Skin rash, Periorbital edema, Erythema, Bruising susceptibility, Erysipelas |
ORPHA:32960 |
Adult Syndrome |
|
Dry skin, Skin ulcer |
ORPHA:978 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Death in childhood, Hyperkeratosis, Stillbirth, Prolonged neonatal jaundice, In... |
OMIM:210710 |
Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Gingival overgrowth, Glossoptosis, Short philtrum, High palate, De... |
OMIM:602535 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
Fetal Hydantoin Syndrome |
|
Wide mouth, Everted lower lip vermilion, Cleft palate |
ORPHA:1912 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hypertriglyceridemia, Progeroid facial appearance, Erythema nodosum, Erythema, Death in adolescen... |
OMIM:256040 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Hyperalaninemia, Everted lower lip vermilion, Hyperammonemia, Dysphagia |
OMIM:615471 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperkera... |
ORPHA:79501 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavior, High, narrow palate, Cl... |
ORPHA:464738 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Dry skin, Eczema |
ORPHA:508542 |
Ablepharon-Macrostomia Syndrome |
|
Premature skin wrinkling, Dry skin, Redundant skin |
OMIM:200110 |
Atopic Keratoconjunctivitis |
|
Dry skin |
ORPHA:163934 |
Autosomal Dominant Hypocalcemia |
|
Dry skin, Eczema |
ORPHA:428 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Dental malocclusion, Wide mouth, Everted lower lip vermilion, High pala... |
OMIM:611174 |
Short Syndrome |
|
Excessive wrinkled skin |
ORPHA:3163 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Everted lower lip vermilion, Long philtrum |
ORPHA:75389 |
Scorpion Envenomation |
|
Restlessness, Purpura, Ataxia, Edema, Erythema, Pulmonary edema |
ORPHA:466677 |
Familial Mediterranean Fever |
|
Skin rash, Erythema, Pedal edema, Ascites, Erysipelas |
ORPHA:342 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Dry skin |
OMIM:619306 |
8P Inverted Duplication/Deletion Syndrome |
|
Impulsivity, High, narrow palate, Abnormality of dental eruption, Wide mouth, Everted lower lip v... |
ORPHA:96092 |
Johnson Neuroectodermal Syndrome |
|
Carious teeth, Everted lower lip vermilion, Cleft palate |
ORPHA:2316 |
Campomelia, Cumming Type |
|
Death in infancy, Prematurely aged appearance, Lymphedema, Hydrops fetalis, Oligohydramnios |
ORPHA:1318 |
Tangier Disease |
|
Hypertriglyceridemia, Dry skin, Hypocholesterolemia |
ORPHA:31150 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
Aicardi-Goutières Syndrome |
|
Cutis marmorata, Chilblains, Dry skin, Difficulty walking, Prolonged neonatal jaundice, Acrocyanosis |
ORPHA:51 |
Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Chronic mucocutaneous candidiasis, Follicular hyperkeratosis, Furrowed ... |
OMIM:158310 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Progeroid facial appearance, Cutis laxa |
ORPHA:75496 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Microdontia, Everted lower lip vermilion, Short philtrum, Hypodontia |
OMIM:601499 |
Ablepharon Macrostomia Syndrome |
|
Excessive wrinkled skin, Umbilical hernia, Dry skin, Redundant skin |
ORPHA:920 |
Hermansky-Pudlak Syndrome |
|
Hyperkeratosis, Thickened skin, Abnormal dental enamel morphology, Anorexia |
ORPHA:79430 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal dental morphology, Eczema, Hyperkeratosis, Everted lower lip vermilion, Inappropriate la... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Abnormal dental morphology, Eczema, Hyperkeratosis, Everted lower lip vermilion, Inappropriate la... |
ORPHA:363958 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue |
ORPHA:1901 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Aggressive behavior, Cleft lip, Cleft palate, Everted lower lip vermilion, Thick vermilion border... |
OMIM:301066 |
Reactive Arthritis |
|
Pustule, Hyperkeratosis, Recurrent aphthous stomatitis, Joint swelling |
ORPHA:29207 |
Hajdu-Cheney Syndrome |
|
Umbilical hernia, Dry skin, Skin ulcer, Thickened skin |
ORPHA:955 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Umbilical hernia, Dry skin, Lethargy |
OMIM:218700 |
Schwartz-Jampel Syndrome |
|
Pursed lips, Death in infancy, Elevated circulating creatine kinase concentration, Polyhydramnios... |
ORPHA:800 |
Addison Disease |
|
Decreased circulating cortisol level, Dry skin, Salt craving, Anorexia |
ORPHA:85138 |
Scheie Syndrome |
|
Wide mouth, Thick vermilion border, Everted lower lip vermilion |
ORPHA:93474 |
Cranioectodermal Dysplasia 2 |
|
Polyhydramnios, Hydrops fetalis, Cleft palate, Cutis laxa, Broad philtrum, Fused teeth, High pala... |
OMIM:613610 |
3M Syndrome |
|
Delayed eruption of teeth, Everted lower lip vermilion, Abnormal dental enamel morphology, Long p... |
ORPHA:2616 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Eczema, Erythema, Urticaria, Hyperkeratosis, Ichthyosis |
ORPHA:2273 |
Chromosome 17P13.1 Deletion Syndrome |
|
High, narrow palate, Everted lower lip vermilion, High palate, Short philtrum, Oligohydramnios |
OMIM:613776 |
Cockayne Syndrome Type 2 |
|
Ataxia, Progeroid facial appearance, Gait disturbance, Difficulty walking, Intrauterine growth re... |
ORPHA:90322 |
Scalp-Ear-Nipple Syndrome |
|
Thickened skin, Cutaneous photosensitivity, Dry skin, Palpebral edema |
OMIM:181270 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Elevated circulating creatine kinase concentration... |
OMIM:242840 |
Plague |
|
Chapped lip, Skin rash, Edema, Anorexia, Erythema nodosum, Unsteady gait, Skin ulcer, Dry skin |
ORPHA:707 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Dry skin, Scaling skin |
OMIM:618419 |
Cushing Disease |
|
Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Intra-oral hype... |
ORPHA:96253 |
Ramon Syndrome |
|
Delayed eruption of teeth, Hyperkeratosis, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis |
OMIM:620189 |
Congenital Ichthyosiform Erythroderma |
|
Pruritus, Palmoplantar keratoderma, Erythroderma, Ichthyosis |
ORPHA:79394 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Ataxia, Scissor gait, Telangiectasia, Choreoathetosis, Cutaneous photosensitivity |
OMIM:278800 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue |
ORPHA:96147 |
Alzahrani-Kuwahara Syndrome |
|
Self-mutilation, Dry skin, Eczema, Tip-toe gait |
OMIM:619268 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Open bite, Deep philtrum, Wide mouth, Hyperextensible skin, High palate, Everted lower lip vermil... |
ORPHA:1974 |
Fibromuscular Dysplasia, Multifocal |
|
Soft skin, Dental crowding, Hyperextensible skin, High palate, Soft, doughy skin, Striae distensa... |
OMIM:619329 |
Wrinkly Skin Syndrome |
|
Redundant skin, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet, Palmoplant... |
OMIM:278250 |
Noonan Syndrome With Multiple Lentigines |
|
Excessive wrinkled skin, Intrauterine growth retardation, Spina bifida occulta |
ORPHA:500 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Nail-biting, Hyperactivity, Impulsivity, Difficulty walking, Dysphagia, Dry skin, Self-mutilation... |
ORPHA:642 |
Syndromic Diarrhea |
|
Intrauterine growth retardation, Dry skin |
ORPHA:84064 |
Chand Syndrome |
|
Dry skin, Ataxia |
ORPHA:1401 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Broad-based gait, Prematurely aged appearance, Lack of facial subcutaneous fat, Progeroid facial ... |
ORPHA:2959 |
Primary Sjögren Syndrome |
|
Cutis marmorata, Erythema nodosum, Xerostomia, Skin ulcer, Dry skin, Purpura |
ORPHA:289390 |
2Q31.1 Microdeletion Syndrome |
|
Deep philtrum, Cleft palate, Downturned corners of mouth, Thin vermilion border, Everted lower li... |
ORPHA:251014 |
Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Abnormality of the dentition, Everted lower lip vermilion, High palate,... |
OMIM:608156 |
X-Linked Intellectual Disability, Snyder Type |
|
Smooth philtrum, Dental crowding, Thick lower lip vermilion, Cleft palate, High palate, Short phi... |
ORPHA:3063 |
Bartsocas-Papas Syndrome 1 |
|
Intrauterine growth retardation, Dry skin |
OMIM:263650 |
Geroderma Osteodysplastica |
|
Prematurely aged appearance, Redundant skin |
ORPHA:2078 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Cutis laxa |
OMIM:614100 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Deep philtrum, Short philtrum |
OMIM:619951 |
Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... |
OMIM:123700 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Prog... |
OMIM:608612 |
Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Erythema, Jaundice |
ORPHA:913 |
Mucopolysaccharidosis Type 1 |
|
Thick lower lip vermilion, Gingival overgrowth, Everted lower lip vermilion, Widely spaced teeth,... |
ORPHA:579 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Polyhydramnios, Epidermal hyperkeratosis, Hydropic placenta,... |
OMIM:275210 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Hyponatremia, Aggressive behavior, Hyperlipidemia, Hyperkalemia, Self-injurious behavior, Everted... |
ORPHA:293987 |
Exercise-Induced Malignant Hyperthermia |
|
Lethargy, Dry skin, Ataxia, Flushing |
ORPHA:466650 |
Orofaciodigital Syndrome Type 1 |
|
Dry skin, Ataxia |
ORPHA:2750 |
Nelson Syndrome |
|
Secondary hypercortisolism, Increased circulating cortisol level, Striae distensae |
ORPHA:199244 |
Down Syndrome |
|
Umbilical hernia, Gait disturbance, Prematurely aged appearance |
ORPHA:870 |
Urachal Cyst |
|
Erythema |
ORPHA:488 |
Lymphatic Filariasis |
|
Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema |
ORPHA:2035 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema |
OMIM:118650 |
6Q Terminal Deletion Syndrome |
|
Broad philtrum, Hyperkeratosis, Thick vermilion border, High, narrow palate |
ORPHA:75857 |
Multiple Endocrine Neoplasia Type 4 |
|
Increased circulating cortisol level, Erythema, Subcutaneous lipoma |
ORPHA:276152 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Skin rash, Anorexia, Acantholysis, Oral mucosal blisters, O... |
ORPHA:95455 |
Limb-Mammary Syndrome |
|
Dry skin, Psoriasiform dermatitis |
ORPHA:69085 |
Hurler Syndrome |
|
Macroglossia, Everted lower lip vermilion, Thick vermilion border, Death in infancy |
ORPHA:93473 |
Ectodermal Dysplasia And Immunodeficiency 2 |
|
Anhidrotic ectodermal dysplasia, Dry skin |
OMIM:612132 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Polyhydramnios, Edema, Long upper lip, A... |
OMIM:267000 |
Goldberg-Shprintzen Syndrome |
|
Oligodontia, Everted lower lip vermilion, Short philtrum, Thick vermilion border |
OMIM:609460 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Intrauterine growth retardation... |
OMIM:616914 |
Kawasaki Disease |
|
Palmoplantar erythema, Jaundice, Skin rash, Edema |
ORPHA:2331 |
Sympathetic Ophthalmia |
|
Erythema, Macular edema |
ORPHA:79098 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Xerostomia, Cl... |
OMIM:129900 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Death in infancy, Redundant skin, Progeroid facial appearance, Periorbital edema, Cutis laxa, Dea... |
OMIM:613177 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Hyperlipidemia, Prematurely aged appearance, Progeroid facial appearance |
ORPHA:90154 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Xerostomia, Cl... |
OMIM:604292 |
Leprosy |
|
Hyperkeratosis, Steppage gait, Penetrating foot ulcers, Acral ulceration |
ORPHA:548 |
Relapsing Polychondritis |
|
Erythema, Purpura |
ORPHA:728 |
Wrinkly Skin Syndrome |
|
Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk, Cutis laxa, Ex... |
ORPHA:2834 |
Arterial Tortuosity Syndrome |
|
Progeroid facial appearance, Cutis laxa, Umbilical hernia, Bruising susceptibility, Telangiectase... |
OMIM:208050 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Progeroid facial appearance |
OMIM:617763 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Progeroid facial appearance, Premature... |
ORPHA:280365 |
Noonan Syndrome 1 |
|
Dry skin, Chylothorax, Bruising susceptibility, Lymphedema |
OMIM:163950 |
Cranioectodermal Dysplasia 1 |
|
High, narrow palate, High palate, Widely spaced teeth, Everted lower lip vermilion, Hypodontia, M... |
OMIM:218330 |
Coffin-Lowry Syndrome |
|
Thick lower lip vermilion, Dental malocclusion, Narrow palate, Cutis laxa, High palate, Widely sp... |
OMIM:303600 |
Van Den Ende-Gupta Syndrome |
|
Dental crowding, High, narrow palate, Cleft palate, High palate, Everted lower lip vermilion, Nar... |
OMIM:600920 |
Aortic Aneurysm, Familial Thoracic 10 |
|
High palate, Dental crowding, Striae distensae |
OMIM:617168 |
Williams Syndrome |
|
Redundant skin, Elevated circulating creatine kinase concentration, Periorbital edema, Compulsive... |
ORPHA:904 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Paradoxical increased cortisol secretion on dexamethasone suppression test, Anorexia, Intra... |
ORPHA:99889 |
Coffin-Siris Syndrome 4 |
|
Thin upper lip vermilion, Everted upper lip vermilion, Thick lower lip vermilion, Cleft palate, W... |
OMIM:614609 |
Loeys-Dietz Syndrome 6 |
|
High palate, Striae distensae |
OMIM:619656 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Cleft palate, Cutis laxa, Hyperextensible skin, Soft skin, Long upper lip, Dermal translucency |
OMIM:615349 |
Saul-Wilson Syndrome |
|
Intrauterine growth retardation, Prominent superficial veins, Progeroid facial appearance |
OMIM:618150 |
Restrictive Dermopathy |
|
Natal tooth, Polyhydramnios, Epidermal hyperkeratosis, Submucous cleft hard palate, Scaling skin,... |
ORPHA:1662 |
Immunodeficiency 49 |
|
Natal tooth, Psoriasiform dermatitis, Short philtrum, Cutis laxa |
OMIM:617237 |
Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Prematurely aged appearance, Redundant skin |
ORPHA:3342 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Soft, doughy skin, Hyperextensible skin, High palate, Follicular hyperkeratosis |
ORPHA:536545 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Erythema |
ORPHA:2556 |
Cerebrotendinous Xanthomatosis |
|
Ataxia, Prematurely aged appearance, Aggressive behavior, Myelopathy, Gait disturbance, Agitation... |
ORPHA:909 |
Baller-Gerold Syndrome |
|
Erythema, Spina bifida occulta, Severe intrauterine growth retardation |
OMIM:218600 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... |
ORPHA:83617 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Seborrheic dermatitis |
ORPHA:276280 |
Cockayne Syndrome Type 1 |
|
Ataxia, Progeroid facial appearance, Gait disturbance, Difficulty walking, Cutaneous photosensiti... |
ORPHA:90321 |
Acquired Generalized Lipodystrophy |
|
Acanthosis nigricans, Hypertriglyceridemia, Progeroid facial appearance |
ORPHA:79086 |
Duane Retraction Syndrome |
|
Everted lower lip vermilion, Cleft palate |
ORPHA:233 |
Marfan Syndrome |
|
Dental crowding, Open bite, High, narrow palate, Cleft palate, Attention deficit hyperactivity di... |
ORPHA:558 |
Periventricular Nodular Heterotopia 9 |
|
Everted upper lip vermilion, Hypoplastic philtrum, Gingival overgrowth, High palate, Compulsive b... |
OMIM:618918 |
Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Bruising susceptibility, Joint swelling, Blephar... |
ORPHA:287 |
Cowden Syndrome |
|
Furrowed tongue, Macroglossia, Palmoplantar keratoderma, High palate, Generalized hyperkeratosis |
ORPHA:201 |
Seckel Syndrome |
|
Intrauterine growth retardation, Prematurely aged appearance |
ORPHA:808 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Erythema, Fragile skin |
OMIM:614748 |
Xeroderma Pigmentosum, Complementation Group B |
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Cutaneous photosensitivity, Ataxia, Progeroid facial appearance |
OMIM:610651 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
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Thin upper lip vermilion, Polyhydramnios, Everted lower lip vermilion, Narrow mouth, Smooth philt... |
ORPHA:459070 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Palmoplantar erythema, Self-injurious behavior, Abnormal repetitive mannerisms |
OMIM:612474 |
Feingold Syndrome 1 |
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Thick vermilion border, Everted lower lip vermilion, High palate, Polyhydramnios |
OMIM:164280 |
Trichorhinophalangeal Syndrome, Type Ii |
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Redundant skin in infancy, Dry skin, Cutis laxa |
OMIM:150230 |
Meester-Loeys Syndrome |
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High palate, Bifid uvula, Striae distensae, Gingival overgrowth |
OMIM:300989 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
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Everted upper lip vermilion, Repetitive compulsive behavior, Absent cupid's bow, Abnormality of t... |
ORPHA:513456 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Polyhydramnios, Edema, Conjugated hyperbilirubinemia, Increased circulating ferritin concentratio... |
OMIM:619534 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
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Cleft palate, Polyhydramnios, Cutis laxa |
OMIM:270420 |
Cutis Laxa, Autosomal Recessive, Type Ia |
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Oligohydramnios, Redundant skin, Cutis laxa |
OMIM:219100 |
Chromosome Xp11.3 Deletion Syndrome |
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Progeroid facial appearance |
OMIM:300578 |
Marfan Syndrome |
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High palate, Narrow palate, Dental crowding, Striae distensae |
OMIM:154700 |
Immunodeficiency 47 |
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Hypercholesterolemia, Death in infancy, Cutis laxa |
OMIM:300972 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Everted lower lip vermilion, Pallor, Elevated circulating creatine kinase concentration |
OMIM:253280 |
Specc1L-Related Hypertelorism Syndrome |
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Orofacial cleft, Thin vermilion border, Everted lower lip vermilion, Long philtrum, Advanced erup... |
ORPHA:1519 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Progeroid facial appearance, Hypertriglyceridemia, Palmoplantar hyperkeratosis, Death in childhood |
OMIM:619127 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Waddling gait, Intrauterine growth retardation, Dry skin |
ORPHA:99646 |
Chromosome 13Q14 Deletion Syndrome |
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Thin upper lip vermilion, Deep philtrum, Everted lower lip vermilion, High palate |
OMIM:613884 |
Lenz-Majewski Hyperostotic Dwarfism |
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Prematurely aged appearance, Redundant skin |
ORPHA:2658 |
Loeys-Dietz Syndrome 2 |
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Cleft palate, Soft skin, Bifid uvula, Striae distensae, Dermal translucency |
OMIM:610168 |
Loeys-Dietz Syndrome |
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Orofacial cleft, High palate, Bifid uvula, Striae distensae |
ORPHA:60030 |
Menke-Hennekam Syndrome 1 |
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Thin upper lip vermilion, Everted upper lip vermilion, Deep philtrum, Cleft palate, Agenesis of p... |
OMIM:618332 |
Aneurysm-Osteoarthritis Syndrome |
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Dental malocclusion, Cleft palate, High palate, Bifid uvula, Striae distensae |
ORPHA:284984 |
Mowat-Wilson Syndrome |
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Delayed eruption of teeth, Dental crowding, Abnormal dental morphology, Cleft hard palate, Thick ... |
ORPHA:2152 |
Vascular Ehlers-Danlos Syndrome |
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Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Excessive wrinkled skin,... |
ORPHA:286 |
Carney Complex |
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Increased circulating cortisol level, Tongue nodules, Abnormal hard palate morphology, Striae dis... |
ORPHA:1359 |
Loeys-Dietz Syndrome 3 |
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Dental malocclusion, Cleft palate, High palate, Soft skin, Bifid uvula, Striae distensae, Dermal ... |
OMIM:613795 |
Proteus Syndrome |
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Abnormal dental enamel morphology, Lymphedema, Carious teeth, Thickened skin, Tooth agenesis, Gen... |
ORPHA:744 |
Keppen-Lubinsky Syndrome |
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Progeroid facial appearance, Lack of facial subcutaneous fat, Polyhydramnios |
OMIM:614098 |
Pallister-Killian Syndrome |
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Delayed eruption of teeth, Thin upper lip vermilion, Tented upper lip vermilion, Edema of the dor... |
OMIM:601803 |
Branchioskeletogenital Syndrome |
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Umbilical hernia, Blepharochalasis, Periorbital wrinkles |
ORPHA:1299 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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Dermal translucency, Cutis laxa, High palate, Soft skin, Oligohydramnios |
OMIM:614437 |