Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Porokeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin plaque, Annular cutaneous lesion, Hype... |
ORPHA:737 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Urticarial plaque, Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythem... |
ORPHA:64745 |
Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
Ulerythema Ophryogenesis |
|
Acne, Miscarriage, Facial erythema, Hyperkeratotic papule, Erythematous papule, Dermal atrophy, F... |
ORPHA:3406 |
Porokeratosis Of Mibelli |
|
Porokeratosis, Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis, Cutaneous photosensitivity |
ORPHA:735 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis, Skin nodule, Verrucous papule |
ORPHA:139414 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Papule, Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Uncombable Hair Syndrome 2 |
|
Uncombable hair, Pili canaliculi |
OMIM:617251 |
Darier Disease |
|
Macule, Acrokeratosis, Hypermelanotic macule, Pruritus, Thickened skin, Plantar pits, Palmoplanta... |
ORPHA:218 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis, Milia |
OMIM:131800 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Hyperkeratosis, Cutaneous photosensitivity, Papule |
ORPHA:1336 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer, Papule |
ORPHA:2337 |
Progressive Symmetric Erythrokeratodermia |
|
Erythema, Palmoplantar keratoderma, Skin plaque |
ORPHA:316 |
Familial Benign Chronic Pemphigus |
|
Acantholysis, Erythema, Hyperkeratosis, Skin vesicle, Skin erosion |
ORPHA:2841 |
Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Pruritus, Erythema, Periauricular skin pits, Atrophic scars, Ski... |
ORPHA:79100 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Reticulate Acropigmentation Of Kitamura |
|
Macule, Hyperkeratosis |
OMIM:615537 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Verrucous papule, Acrokeratosis |
OMIM:101900 |
Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin, Fragile skin |
OMIM:146590 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Erythema, Crusting erythematous dermati... |
ORPHA:79481 |
Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, Erythema, Onyc... |
ORPHA:530838 |
Dowling-Degos Disease |
|
Hypopigmented macule, Epidermoid cyst, Hypermelanotic macule, Pruritus, Palmar pits, Digital pitt... |
ORPHA:79145 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Skin fragility with non-scarring blistering... |
ORPHA:158681 |
Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Er... |
ORPHA:87503 |
Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Erythema, Palmoplantar keratoderma, Skin plaque |
OMIM:617524 |
Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Lichen Planus Pemphigoides |
|
Skin vesicle, Hyperkeratosis, Pruritus |
ORPHA:254478 |
Aquagenic Palmoplantar Keratoderma |
|
Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic hyperk... |
ORPHA:498359 |
Witkop Syndrome |
|
Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair |
OMIM:189500 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Hypomelanotic macule, Follicular hyperkeratosis |
OMIM:615327 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Subcutaneous nodule |
ORPHA:2297 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Fragile skin |
OMIM:615028 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Hypermelanotic macule, Pruritus, Spotty hypopigmentation, Hyperkeratosis,... |
ORPHA:79399 |
Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Acantholysis, Pustule, Pruritus, Annular cutaneous lesion,... |
ORPHA:555905 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Erythematous plaque, Scali... |
OMIM:607602 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly |
OMIM:212360 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis, Papule |
ORPHA:315 |
Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617756 |
Palmoplantar Keratoderma, Nagashima Type |
|
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis... |
OMIM:615598 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Pruritus, Skin erosion, Localized skin lesion, Fragile skin, Erythematous papule, Atypical scarri... |
ORPHA:79410 |
Elastosis Perforans Serpiginosa |
|
Skin-colored papule, Crusting erythematous dermatitis, Cutis laxa, Hyperkeratotic papule, Erythem... |
ORPHA:79148 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Skin plaque |
ORPHA:464318 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Atrophic scars |
OMIM:131850 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis, Scaling skin |
OMIM:617115 |
Anonychia With Flexural Pigmentation |
|
Hyperkeratosis, Macular telangiectasia, Hypermelanotic macule, Follicular hyperkeratosis |
ORPHA:69125 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Pruritus, Erythema, Hypopigmented skin patches, Skin ulcer, Skin plaque, Hyper... |
ORPHA:2584 |
Superficial Epidermolytic Ichthyosis |
|
Acantholysis, Erythema, Palmoplantar keratoderma, Thin skin, Ichthyosis |
ORPHA:455 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Aplasia cutis congenita on trunk or limbs, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis,... |
ORPHA:89838 |
Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
Chand Syndrome |
|
Curly hair, Nail dysplasia |
OMIM:214350 |
Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Perioral erythema, Ichthyosis |
OMIM:248300 |
Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Skin erosion, Parakeratosis, Erythema |
ORPHA:83453 |
Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis |
ORPHA:79503 |
Hyperkeratosis Lenticularis Perstans |
|
Aplasia/Hypoplasia of the skin, Hyperkeratosis lenticularis perstans, Pruritus, Skin ulcer, Papule |
ORPHA:409 |
Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
Jessner Lymphocytic Infiltration Of The Skin |
|
Pruritus, Erythema, Skin plaque, Cutaneous photosensitivity, Papule |
ORPHA:33314 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Hypergranulosis, Sensorineural he... |
ORPHA:79395 |
Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthoke... |
OMIM:607936 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... |
ORPHA:312 |
Erythrokeratodermia Variabilis |
|
Macule, Skin rash, Hypermelanotic macule, Erythema, Patchy palmoplantar hyperkeratosis, Hyperkera... |
ORPHA:317 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Subcutaneous nodule, Hyperkeratosis, Atrophic scars, Dermal atrophy, Skin plaque, Milia... |
ORPHA:89843 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Cutis marmorata, Discoid lupus rash, Skin ulcer,... |
ORPHA:90280 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Crusting erythematous dermatitis, Fragile skin, Palmoplantar hyperkeratosis, Telangiect... |
ORPHA:158673 |
Cutaneous Mastocytoma |
|
Macule, Maculopapular exanthema, Hypermelanotic macule, Telangiectasia of the skin, Pruritus, Thi... |
ORPHA:79455 |
Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Scaling skin, Palmoplantar hyperkeratosis, Congenital bullous ichthyosiform... |
OMIM:113800 |
Pemphigus Vulgaris |
|
Atypical scarring of skin, Recurrent cutaneous abscess formation, Urticaria, Acantholysis |
ORPHA:704 |
Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Erythematous pl... |
OMIM:618531 |
Acral Peeling Skin Syndrome |
|
Macule, Eczema, Erythema, Scaling skin, Ichthyosis, Skin erosion, Papule, Excessive wrinkling of ... |
ORPHA:263534 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthy... |
OMIM:612281 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Autoamputation of digits, Epidermal acanthosis, Thickened skin, Palmoplantar hyper... |
ORPHA:100976 |
Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti... |
ORPHA:79147 |
Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Plantar hyperkeratosis, Thickened skin, Diffuse palmoplantar... |
ORPHA:495 |
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:615821 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Follicular hyperkeratosis |
OMIM:613102 |
Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
Erosive Pustular Dermatosis Of The Scalp |
|
Pustule, Scarring alopecia of scalp, Erythema, Skin erosion |
ORPHA:222 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
Erythema Elevatum Diutinum |
|
Skin vesicle, Skin nodule, Skin rash, Vasculitis in the skin |
ORPHA:90000 |
Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Acantholysis, Pruritus, Pustule, Eosinophilic derma... |
ORPHA:293173 |
Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
Sjögren-Larsson Syndrome |
|
Erythema, Urticaria, Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:816 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:2812 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr... |
OMIM:261900 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Thickened skin, Hyperkeratosis, Skin erosion, Skin plaque, Papule |
OMIM:247100 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Skin nodule |
ORPHA:199267 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Scaling skin, Folli... |
OMIM:616295 |
Dermatitis Herpetiformis |
|
Macule, Eczema, Pruritus, Erythema, Urticaria, Skin vesicle |
ORPHA:1656 |
Cutaneous Collagenous Vasculopathy |
|
Macule, Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasi... |
ORPHA:280779 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin |
OMIM:602723 |
Darier-White Disease |
|
Hypermelanotic macule, Acrokeratosis, Acantholysis, Pruritus, Palmar pits, Plantar pits, Subungua... |
OMIM:124200 |
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Interphalangeal joint contracture of finger, Hypergranulosis, Epidermal hyp... |
ORPHA:2199 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Death in childhood, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform e... |
OMIM:614457 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Palmar hyperlinearity, Palmoplantar keratoderma, Congenital ... |
OMIM:604777 |
Cutaneous Small Vessel Vasculitis |
|
Recurrent skin infections, Skin rash, Cutis marmorata, Erythema, Subcutaneous nodule, Urticaria, ... |
ORPHA:889 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Acantholysis, Localized skin lesion, Hypopigmented skin patches,... |
ORPHA:79480 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
Idiopathic Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Pruritus, Erythema, Sc... |
ORPHA:90158 |
Ichthyosis With Confetti |
|
Clubbing, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythrod... |
OMIM:609165 |
Pemphigoid Gestationis |
|
Skin vesicle, Pruritus |
ORPHA:63275 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Telangiectasia of the skin, Indurated nodule, Skin nodule, ... |
ORPHA:542592 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Skin-colored papule, Punctate palmoplantar hyperker... |
ORPHA:79151 |
Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Skin nodule, Inflammatory abnormality of the skin, Erythema |
ORPHA:90160 |
Peeling Skin Syndrome 3 |
|
Pruritus, Erythema, White scaling skin |
OMIM:616265 |
Dermatofibrosarcoma Protuberans |
|
Subcutaneous nodule, Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Ichthyos... |
OMIM:603165 |
Vibratory Urticaria |
|
Urticaria, Flushing, Facial erythema |
OMIM:125630 |
Bazex Syndrome |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosis nigricans |
ORPHA:166113 |
Angioma Serpiginosum |
|
Macule, Erythema, Vascular skin abnormality |
ORPHA:95429 |
Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Curly hair, Absent eyebrow, Fine hair |
OMIM:615278 |
Naxos Disease |
|
Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture |
ORPHA:34217 |
Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
Erythema Of Acral Regions |
|
Erythema, Talipes equinovarus |
OMIM:227000 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Skin nodule, Erythema,... |
ORPHA:90159 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp... |
OMIM:602400 |
Lichen Planopilaris |
|
Pruritus, Hypopigmented skin patches, Skin ulcer, Hyperkeratosis, Dermal atrophy, Papule |
ORPHA:525 |
Quinquaud Folliculitis Decalvans |
|
Pustule, Scarring alopecia of scalp, Erythema, Recurrent skin infections |
ORPHA:346 |
Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
Hydroa Vacciniforme |
|
Superficial dermal perivascular inflammatory infiltrate, Hydroa vacciniforme, Eczema, Telangiecta... |
ORPHA:330058 |
Maculopapular Cutaneous Mastocytosis |
|
Macule, Yellow papule, Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized a... |
ORPHA:79457 |
Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
Cutaneous Photosensitivity And Colitis, Lethal |
|
Early cutaneous photosensitivity, Death in infancy, Erythema |
OMIM:219095 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Plantar hyperkeratosis, Hypermelanotic macule, Spotty hypopigmentation, Cutaneous photosensitivit... |
ORPHA:79397 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Scarring alopecia of scalp, Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular h... |
OMIM:308800 |
Acrokeratoelastoidosis Of Costa |
|
Yellow papule, Hypergranulosis, Piezogenic pedal papules, Palmoplantar hyperkeratosis, Skin plaqu... |
ORPHA:38 |
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Acantholysis, Palmoplantar hyperkeratosis, Death in adolescence, Palmop... |
OMIM:605676 |
Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Epidermal acanthosis, Cutis laxa, Scaling skin, Generalized ichthyosis, Dry skin, Generalized hyp... |
ORPHA:2269 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
Warty Dyskeratoma |
|
Acrokeratosis, Umbilicated nodule, Skin-colored papule, Acantholysis, Localized skin lesion, Epid... |
ORPHA:69745 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Epidermal acanthosis, Hypergranulosis, Short toe, Erythema, Hyperkeratosis, Congenital ichthyosif... |
OMIM:242100 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Erythema Nodosum, Familial |
|
Erythema nodosum, Erythema |
OMIM:132990 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypermelanotic macule, Hypopigmented skin patches, Hyperkeratosis, Multiple lentigines, Cafe-au-l... |
OMIM:145250 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Reduced subcutaneous adipose tissue, Epidermal hyperkeratosis, Telangiectasia of extensor surface... |
OMIM:137940 |
Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Palmoplantar hyperkeratosis, Ectodermal dysplasia, Scaling skin, Palmoplantar blistering, Fragile... |
OMIM:604536 |
Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
Mastocytosis, Cutaneous |
|
Urticaria, Erythema, Hypermelanotic macule, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Erythematous plaque, Palmoplantar kerat... |
OMIM:173200 |
Familial Keratoacanthoma |
|
Papule, Hyperkeratosis, Subcutaneous nodule, Skin ulcer |
ORPHA:493 |
Acral Self-Healing Collodion Baby |
|
Localized epidermolytic hyperkeratosis, Palmoplantar scaling skin, Erythema, Lack of skin elasticity |
ORPHA:281127 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Thickened skin, Pustule, Erythroderma, Palmoplantar k... |
ORPHA:2897 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Hyperkeratosis, Cutaneous photosensitivity, Annular cuta... |
ORPHA:163525 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Scarring alopecia of scalp, Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Cobbleston... |
OMIM:602540 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Cole Disease |
|
Hypopigmented macule, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:615522 |
Keratosis Pilaris Atrophicans |
|
Erythema, Papule, Comedo |
OMIM:604093 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Trichodental Dysplasia |
|
Sparse hair, Brittle hair, Slow-growing hair, Fine hair |
OMIM:601453 |
Copper Deficiency, Familial Benign |
|
Curly hair, Early balding |
OMIM:121270 |
Keratolytic Winter Erythema |
|
Erythema, Palmoplantar hyperhidrosis |
OMIM:148370 |
Localized Epidermolysis Bullosa Simplex |
|
Plantar hyperkeratosis, Pruritus, Focal friction-related palmoplantar hyperkeratosis, Skin plaque... |
ORPHA:79400 |
Wells Syndrome |
|
Skin vesicle, Pruritus |
ORPHA:901 |
Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Pruritus, Erythema, Crusting erythematous dermatitis, Skin ulcer,... |
ORPHA:742 |
Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Orthostatic Hypotensive Disorder, Streeten Type |
|
Bruising susceptibility, Facial erythema |
OMIM:143850 |
Psoriasis 14, Pustular |
|
Pustule, Parakeratosis, Erythema, Psoriasiform dermatitis |
OMIM:614204 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis, Subcutaneous nodule |
OMIM:618339 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Neonatal death, Skin erosion, Aplasia cutis congenita, Acantholysis |
OMIM:609638 |
Ichthyosis Vulgaris |
|
Palmar hyperlinearity, Dry skin, Absent keratohyalin granules, Ichthyosis |
OMIM:146700 |
Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperkerat... |
ORPHA:2200 |
Hypotrichosis Simplex Of The Scalp |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis, Scaling skin |
ORPHA:90368 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Prominent superficial veins |
OMIM:615907 |
Keratolytic Winter Erythema |
|
Pustule, Erythema |
ORPHA:50943 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
Chromomycosis |
|
Erythematous macule, Pruritus, Hyperparakeratosis, Subcutaneous nodule, Verrucous papule, Hypopig... |
ORPHA:182 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Bruising susceptibility, Poor wound healing, Dermal translucency |
OMIM:619120 |
Pyoderma Gangrenosum |
|
Pustule, Skin ulcer, Atrophic scars, Skin vesicle, Papule |
ORPHA:48104 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Ectodermal dysplasia, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital... |
OMIM:613576 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Papule |
ORPHA:1334 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Redundant skin, Atrophic scars, Gingival hyperkeratosis, Bruising susceptibility, Fragile skin, D... |
OMIM:225410 |
Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Papule, Honeycomb palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:494 |
Mycosis Fungoides |
|
Psoriasiform dermatitis, Eczema, Pruritus, Erythema, Skin plaque |
OMIM:254400 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... |
OMIM:300918 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Failure to thrive, Dry skin, Scaling skin |
OMIM:609180 |
Lamellar Ichthyosis |
|
Pruritus, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Erythroderma, Dry skin |
ORPHA:313 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Ectodermal dysplasia, Palmoplantar keratoderma, Dry skin |
OMIM:224750 |
Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Erythema |
ORPHA:36237 |
Ichthyosis Prematurity Syndrome |
|
Pruritus, Dermatographic urticaria, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma |
OMIM:608649 |
Dowling-Degos Disease 4 |
|
Epidermal acanthosis, Hypergranulosis |
OMIM:615696 |
Basan Syndrome |
|
Epidermal acanthosis, Single transverse palmar crease, Tapered finger, Cutaneous syndactyly of to... |
OMIM:129200 |
Hennekam-Beemer Syndrome |
|
Macule, Telangiectasia of the skin, Pruritus, Thickened skin, Erythema, Subcutaneous nodule, Urti... |
ORPHA:2135 |
Onychotrichodysplasia And Neutropenia |
|
Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo... |
OMIM:258360 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Pa... |
OMIM:619208 |
Familial Cold Autoinflammatory Syndrome 3 |
|
Recurrent sinopulmonary infections, Angioedema, Erythema, Dermatographic urticaria, Cold urticari... |
OMIM:614468 |
Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis... |
OMIM:148700 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis, Cafe-au-lait spot |
OMIM:618625 |
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 |
Flynn-Aird Syndrome |
|
Hyperkeratosis, Dermal atrophy |
OMIM:136300 |
Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m... |
ORPHA:248 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Bruising susceptibility, Follicular hyperkeratosis |
ORPHA:300179 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule |
ORPHA:257 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion, Osteolytic defects of the phalanges of the hand |
OMIM:616298 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Bruising susceptibility, Poor wound healing, Dermal translucency |
OMIM:619115 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Erythroderma, ... |
OMIM:615023 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Recon Progeroid Syndrome |
|
Attached earlobe, Arachnodactyly, Proximal placement of thumb, Progeroid facial appearance, Lived... |
OMIM:620370 |
Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Failure to thrive, Helicobacter pylori infection, Psoriasi... |
OMIM:618131 |
Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema |
ORPHA:90157 |
Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Folliculitis, Scarring alopecia of scalp, Palmoplantar keratoderma, Facial erythema |
OMIM:612843 |
Sydenham Chorea |
|
Erythema, Recurrent streptococcus pneumoniae infections |
ORPHA:306731 |
Primary Erythromelalgia |
|
Pruritus, Erythema |
ORPHA:90026 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Skin rash, Eczema, Pruritus, Skin ulcer, Skin vesicle, Generalized abnormality of skin, Papule |
ORPHA:2314 |
Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... |
OMIM:144200 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ... |
OMIM:615508 |
Bullous Pemphigoid |
|
Urticaria, Erythema, Recurrent infections, Weight loss |
ORPHA:703 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Thickened skin, Erythema, Skin ulcer, Palmoplantar keratoderma, Skin fissure |
ORPHA:659 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Rosaï-Dorfman Disease |
|
Subcutaneous nodule, Erythema, Papule |
ORPHA:158014 |
Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Erythema, Papule |
ORPHA:79099 |
Lupus Erythematosus Tumidus |
|
Cutaneous photosensitivity, Scaling skin |
ORPHA:90283 |
Fixed Drug Eruption |
|
Erythema, Crusting erythematous dermatitis, Erythematous plaque, Skin erosion, Generalized abnorm... |
ORPHA:293812 |
Proteus Syndrome |
|
Hyperkeratosis, Epidermal nevus, Nevus |
OMIM:176920 |
Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Subcutaneous nodule, Hyperkeratosis, Papule |
ORPHA:530 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Recurrent sinopulmonary infections, Erythema, Recurrent pneumonia, Chronic mucocutaneous candidia... |
OMIM:147060 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Palmoplantar keratoderma, Scaling skin, Dry skin |
OMIM:618373 |
Leopard Syndrome 3 |
|
Few cafe-au-lait spots, Numerous nevi, Epidermal hyperkeratosis, Hyperkeratosis, Multiple lentigi... |
OMIM:613707 |
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Plantar hyperkeratosis |
OMIM:616487 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Palmoplantar keratoderma, Epidermal acanthosis, Hypergranulosis, Ichthyosis |
OMIM:615022 |
Corneodermatoosseous Syndrome |
|
Abnormality of the hand, Hearing impairment, Thickened skin, Erythema, Abnormal finger morphology... |
ORPHA:3194 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Cutis laxa, Hyperkeratosis, Ichthyosis, Dry skin |
OMIM:612379 |
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:129490 |
Diffuse Cutaneous Mastocytosis |
|
Thickened skin, Darier's sign, Urticaria, Dermatographic urticaria, Scaling skin, Generalized abn... |
ORPHA:79456 |
Porphyria Variegata |
|
Thickened skin, Localized skin lesion, Skin vesicle, Skin erosion, Cutaneous photosensitivity, Milia |
ORPHA:79473 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Follicular hyperk... |
OMIM:257980 |
Amyloidosis, Primary Localized Cutaneous, 1 |
|
Dry skin, Scaling skin |
OMIM:105250 |
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome |
|
Dermal translucency |
ORPHA:529965 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Epidermal acanthosis,... |
ORPHA:477 |
Aicardi-Goutieres Syndrome 5 |
|
Dry skin, Scaling skin |
OMIM:612952 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Pruritus, Urticaria, Angioedema, Erythema |
ORPHA:100057 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,... |
ORPHA:2228 |
Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Cutaneous photosensitivity, Erythema, Eczema |
ORPHA:79278 |
Acute Radiation Syndrome |
|
Hyperkeratosis, Scaling skin, Skin ulcer, Telangiectasia |
ORPHA:454831 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Erythema, Palmoplantar hyperkeratosis, Eczematoid dermatit... |
OMIM:259100 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... |
OMIM:242300 |
Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Lack of facial subcutaneous fat, Erythema, Scaling skin |
ORPHA:90156 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis, Melanocytic nevus |
ORPHA:1573 |
Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
Ramon Syndrome |
|
Hyperkeratosis, Telangiectasia of the skin |
ORPHA:3019 |
Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
Lethal Acantholytic Erosive Disorder |
|
Abnormal pinna morphology, Acantholysis, 4-5 finger syndactyly, 2-3 finger syndactyly, Fragile sk... |
ORPHA:158687 |
White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
Pilarowski-Bjornsson Syndrome |
|
Dermal translucency |
OMIM:617682 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Skin nodule, Pyoderma gangrenosum, E... |
ORPHA:3243 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Poor wound healing, Unilateral deafness, Dry skin, Facial erythema, Palmoplantar keratoderma, Sca... |
ORPHA:1010 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent superficial veins, Cutis laxa, Excessive wrinkled skin, Thin skin, Dermal translucency |
OMIM:614438 |
C1Q Deficiency 2 |
|
Sepsis, Facial erythema, Vasculitis in the skin, Recurrent otitis media, Recurrent lower respirat... |
OMIM:620321 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair |
OMIM:616351 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Poor wound healing, Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Inflammatory abnormality of the skin, Hyperkeratosis, Ichthyosis, Dry skin |
OMIM:610768 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ... |
ORPHA:163654 |
Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Erythema, Eczema |
OMIM:177000 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Scarring alopecia of scalp, Hypoplastic sweat glands, Hypohidro... |
OMIM:617337 |
Familial Cold Urticaria |
|
Pruritus, Urticaria, Erythema |
ORPHA:47045 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Cutis Laxa, Autosomal Dominant 3 |
|
Premature skin wrinkling, Cutis laxa, Dermal translucency |
OMIM:616603 |
Dyskeratosis Congenita |
|
Macule, Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Hypermelanotic macule, Hypopi... |
ORPHA:1775 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Hyperkeratosis, Dry skin |
ORPHA:1028 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, Dry skin |
OMIM:618527 |
Glutamine Deficiency, Congenital |
|
Recurrent respiratory infections, Micromelia, Erythema, Low-set ears, Camptodactyly |
OMIM:610015 |
Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fragile nails, Fine hair |
ORPHA:500166 |
Lymphatic Malformation 12 |
|
Neonatal death, Hyperkeratosis, Death in adolescence |
OMIM:620014 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp |
OMIM:615280 |
Noonan Syndrome 6 |
|
Sparse hair, Curly hair, Long eyebrows, Low posterior hairline |
OMIM:613224 |
Harlequin Ichthyosis |
|
Hyperkeratosis, Congenital ichthyosiform erythroderma, Erythroderma, Ichthyosis |
ORPHA:457 |
Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Abnormal pinna morphology, Sensorineural hearing impairment, Upper limb asymmetry, Ichthyosis, Sc... |
ORPHA:35173 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Neonatal sepsis, Psoriasiform lesion, Recurrent viral infections, Recurrent upper respiratory tra... |
ORPHA:169154 |
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Recurrent respiratory infections, Failure to thrive in infancy, Recurrent viral infections, Sever... |
OMIM:606367 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Parakeratosis, Syndactyly... |
OMIM:308050 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Recurrent pneumonia, Sepsis, Palmoplantar keratoderma, Scaling skin, Follicular hyperkeratosis, F... |
ORPHA:158668 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Telangiectasia of the skin, Telangiectasia |
ORPHA:79279 |
Noonan Syndrome 5 |
|
Sparse eyebrow, Curly hair, Small nail, Fine hair |
OMIM:611553 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair |
OMIM:616559 |
Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Sensorineural hearing impairment, Hyperkeratosis, Joint ... |
ORPHA:1883 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair |
OMIM:615279 |
Meige Disease |
|
Recurrent bacterial skin infections, Recurrent skin infections, Skin ulcer, Atypical scarring of ... |
ORPHA:90186 |
Peeling Skin Syndrome 1 |
|
Scaling skin, Palmoplantar hyperhidrosis |
OMIM:270300 |
Xeroderma Pigmentosum |
|
Macule, Conjunctival telangiectasia, Telangiectasia of the skin, Hypermelanotic macule, Thickened... |
ORPHA:910 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Sparse hair, Curly hair, Synophrys, Sparse eyebrow |
OMIM:620075 |
Polyarteritis Nodosa |
|
Erythema, Cutis marmorata, Skin ulcer, Weight loss |
ORPHA:767 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Atrophic scars, Bruising susceptibility, Dermal translucency |
OMIM:618343 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Subcutaneous nodule, Lip telangiec... |
ORPHA:79280 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Eczema, Pustule, Erythema, Hypopigmented skin patches, Skin ulcer, Pa... |
ORPHA:2907 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Atrophic scars, Cutis laxa, Dermal translucency |
OMIM:615349 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding |
OMIM:616390 |
Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:601214 |
Chikungunya |
|
Macule, Maculopapular exanthema, Skin rash, Pruritus, Erythema nodosum, Erythema, Crusting erythe... |
ORPHA:324625 |
De Barsy Syndrome |
|
Progeroid facial appearance, Prominent veins on trunk, Cutis laxa, Excessive wrinkled skin, Thin ... |
ORPHA:2962 |
Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen... |
ORPHA:2890 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Hyperkeratosis, Sensorineural hearing impairment, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:616029 |
Xeroderma Pigmentosum, Complementation Group F |
|
Cutaneous photosensitivity, Erythema, Hearing impairment, Decreased body weight |
OMIM:278760 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Erythematous plaque, Cutaneous... |
ORPHA:398124 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Small for gestational age, Single transverse palmar crease, Posteriorly rotated ears, Bifid dista... |
OMIM:618419 |
Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Cutis marmorata, Sensorineural heari... |
ORPHA:3219 |
Congenital Lethal Erythroderma |
|
Congenital exfoliative erythroderma, Death in infancy, Urticaria, Ichthyosis, Dry skin |
ORPHA:1954 |
Pachyonychia Congenita |
|
Epidermoid cyst, Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratode... |
ORPHA:2309 |
Netherton Syndrome |
|
Parakeratosis, Recurrent skin infections, Eczema, Angioedema, Urticaria, Congenital nonbullous ic... |
OMIM:256500 |
Immunodeficiency 23 |
|
Recurrent respiratory infections, Recurrent staphylococcal infections, Severe varicella zoster in... |
OMIM:615816 |
Mycetoma |
|
Recurrent bacterial skin infections, Prominent superficial veins, Subcutaneous nodule, Cobbleston... |
ORPHA:2583 |
Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Perianal erythema, Perioral erythema, Erythroderma |
OMIM:614328 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Verrucous papule |
ORPHA:2611 |
Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow |
OMIM:617392 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Epidermal acanthosis, Ectodermal dysplasia, Palmoplantar keratoderma, Finger joint... |
OMIM:615225 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Retinal telangiectasia, Premature graying of hair, Thin skin, Gastrointestinal telangiectasia, De... |
OMIM:612199 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric... |
OMIM:225060 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Erythema, Fragile skin, Atr... |
ORPHA:79396 |
Graft Versus Host Disease |
|
Dupuytren contracture, Limited elbow movement, Jaundice, Recurrent infections, Scaling skin, Recu... |
ORPHA:39812 |
Restrictive Dermopathy |
|
Epidermal hyperkeratosis, Scaling skin, Dermal atrophy, Skin erosion, Generalized hyperkeratosis,... |
ORPHA:1662 |
Noonan Syndrome 8 |
|
Large for gestational age, Hyperkeratosis, Low-set ears, Palmoplantar cutis laxa, Failure to thrive |
OMIM:615355 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Multiple cafe-au-lait spots, Follicular hyperkeratosis |
ORPHA:1809 |
Complex Regional Pain Syndrome |
|
Edema of the upper limbs, Erythema, Dry skin |
ORPHA:83452 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Pruritus, Jaundice, Ichthyosis, Orthokeratosis, Dry skin |
OMIM:607626 |
Bacterial Toxic-Shock Syndrome |
|
Recurrent urinary tract infections, Severe varicella zoster infection, Severe infection, Severe v... |
ORPHA:36234 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Recurrent respiratory infections, Cutis marmorata, Erythema, Livedo reticularis, Telangiectasia, ... |
OMIM:615934 |
Subcorneal Pustular Dermatosis |
|
Pruritus, Erythema, Pustule |
ORPHA:48377 |
Mpdu1-Cdg |
|
Scaling skin, Ichthyosis |
ORPHA:79323 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Recurrent respiratory infections, Psoriasiform lesion, Recurrent pneumonia, Sepsis, Recurrent inf... |
OMIM:614700 |
Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
Donohue Syndrome |
|
Recurrent infections, Hyperkeratosis, Large hands, Severe failure to thrive, Low-set ears, Acanth... |
OMIM:246200 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Brachydactyly, Abnormality of the elbow, Hy... |
ORPHA:1005 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Dermal translucency |
ORPHA:541423 |
Neutrophilic Dermatosis, Acute Febrile |
|
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa |
OMIM:608068 |
Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Recurrent skin infections, Erythema, Atypical scarring of skin, H... |
ORPHA:2908 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Recurrent respiratory infections, Skin ulcer, Protruding ear, Hyperkeratosis, Hearing impairment |
ORPHA:1806 |
Warburg-Cinotti Syndrome |
|
Hypoplasia of the ear cartilage, Posteriorly rotated ears, Poor wound healing, Erythema, Elbow fl... |
OMIM:618175 |
Noonan Syndrome 7 |
|
Curly hair, Low posterior hairline |
OMIM:613706 |
Costello Syndrome |
|
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Redundant skin, Lack of skin ela... |
ORPHA:3071 |
Snakebite Envenomation |
|
Ecchymosis, Localized skin lesion, Erythema, Angioedema |
ORPHA:449285 |
Riddle Syndrome |
|
Conjunctival telangiectasia, Recurrent viral infections, Erythema, Recurrent pneumonia, Telangiec... |
ORPHA:420741 |
Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Epidermal acanthosis, Dry skin, Palmoplantar hyperkeratosis, Follicular hyperkeratosis, Failure t... |
OMIM:617388 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Cafe-au-lait spot, Thin skin, Dermal translucency |
OMIM:617506 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the calcaneus, Metaphyseal cupping of me... |
ORPHA:163966 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Bronchiolitis, Recurrent sinopulmonary infections, Erythema |
OMIM:614878 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Failure to thrive in infancy, Cutis marmorata, Recurrent pneumonia, Clubbing, Hyperkeratosis |
OMIM:301220 |
Smith-Kingsmore Syndrome |
|
Curly hair |
OMIM:616638 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atrophic scars, Bruising susceptibility, Thin skin, Dermal translucency |
ORPHA:536467 |
Toxic Epidermal Necrolysis |
|
Macule, Erythema, Skin ulcer, Acantholysis |
ORPHA:537 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline |
OMIM:617360 |
Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Perianal erythema, Dry skin, Recurrent candida infections, Perioral erythema, Failure to thrive |
OMIM:201100 |
Milroy Disease |
|
Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Urticaria, Acrocyanosis, Papule, Purpura |
ORPHA:343 |
Barber-Say Syndrome |
|
Redundant skin, Dermal atrophy, Premature skin wrinkling, Dry skin, Dermal translucency |
OMIM:209885 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Telangiectasia, Hyperkeratosis, Palmoplantar keratoderma, Derm... |
OMIM:604173 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Protruding ear, Talipes equinovarus, Follicular hyperkeratosis, Increased laxity of fingers, Recu... |
OMIM:254090 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Nail dystrophy, Small ... |
OMIM:234050 |
Immunoglobulin A Vasculitis |
|
Macule, Skin rash, Pustule, Angioedema, Erythema, Skin ulcer, Urticaria, Bruising susceptibility,... |
ORPHA:761 |
Trichothiodystrophy 1, Photosensitive |
|
Small for gestational age, Macrotia, Protruding ear, Telangiectasia, Hyperkeratosis, Cutaneous ph... |
OMIM:601675 |
Mednik Syndrome |
|
Death in infancy, Erythema, Ichthyosis, Death in childhood, Neonatal death |
OMIM:609313 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Porokeratosis, Short metacarpal, Aplasia/hypoplasia involving bones of th... |
ORPHA:221016 |
Noonan Syndrome 4 |
|
Sparse eyebrow, Curly hair, High anterior hairline |
OMIM:610733 |
Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
Incontinentia Pigmenti |
|
Finger syndactyly, Telangiectasia of the skin, Camptodactyly of finger, Abnormal hand morphology,... |
ORPHA:464 |
Stevens-Johnson Syndrome |
|
Macule, Erythema, Acantholysis |
ORPHA:36426 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Dry skin, Recurrent infections, Hyperkeratosis, Failure to thrive |
OMIM:614576 |
Incontinentia Pigmenti |
|
Hyperkeratosis, Erythema, Maculopapular exanthema, Pallor |
OMIM:308300 |
Chops Syndrome |
|
Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow |
OMIM:616368 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Lip telangiectasia, Angiokeratoma corporis diffusum, Hyperkera... |
OMIM:609242 |
Noonan Syndrome 14 |
|
Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline |
OMIM:619745 |
Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Tapered finger |
OMIM:181600 |
Chime Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the hand, Erythema, Clubbing of toes, Skin ulcer, Aplasia/... |
ORPHA:3474 |
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair |
ORPHA:457485 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Erythema, Scaling skin, Recurrent gastroenteritis, Generaliz... |
ORPHA:294023 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis |
ORPHA:1839 |
Hypohidrotic Ectodermal Dysplasia |
|
Hyperkeratosis, Dry skin, Eczema, Thin skin |
ORPHA:238468 |
Aicardi-Goutieres Syndrome 1 |
|
Chilblains, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura |
OMIM:225750 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Macule, Skin rash, Pustule, Angioedema, Erythema, Erythroderma |
ORPHA:139402 |
Pituitary Adenoma 4, Acth-Secreting |
|
Poor wound healing, Obesity, Facial erythema, Abdominal obesity, Ecchymosis, Bruising susceptibil... |
OMIM:219090 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Breast carcinoma, Eso... |
ORPHA:79501 |
Microscopic Polyangiitis |
|
Skin rash, Cutis marmorata, Subcutaneous nodule, Erythema, Skin ulcer, Subcutaneous hemorrhage |
ORPHA:727 |
Werner Syndrome |
|
Aplasia/Hypoplasia of the skin, Miscarriage, Prematurely aged appearance, Telangiectasia of the s... |
ORPHA:902 |
Sialidosis Type 1 |
|
Hyperkeratosis, Vascular skin abnormality |
ORPHA:812 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Palmar ... |
OMIM:615726 |
Oculodentodigital Dysplasia |
|
Curly hair, Brittle hair, Abnormal fingernail morphology, Slow-growing hair, Fine hair, Sparse ha... |
ORPHA:2710 |
Familial Tumoral Calcinosis |
|
Skin rash, Subcutaneous nodule, Erythema, Hypopigmented skin patches, Periarticular subcutaneous ... |
ORPHA:53715 |
Fontaine Progeroid Syndrome |
|
Reduced subcutaneous adipose tissue, Death in infancy, Prominent superficial veins, Prematurely a... |
OMIM:612289 |
Acrodermatitis Enteropathica |
|
Erythema, Dry skin, Skin ulcer, Weight loss, Failure to thrive, Generalized abnormality of skin |
ORPHA:37 |
Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Poor wound healing, Scaling skin, Cutaneous photosensitivity... |
ORPHA:101330 |
Tricho-Retino-Dento-Digital Syndrome |
|
Uncombable hair, Sparse hair |
ORPHA:1264 |
Rheumatic Fever |
|
Subcutaneous nodule, Erythema, Pallor, Macule |
ORPHA:3099 |
Arthrogryposis And Ectodermal Dysplasia |
|
Atypical scarring of skin, Hyperkeratosis, Ectodermal dysplasia, Dry skin |
OMIM:601701 |
Localized Scleroderma |
|
Cutaneous sclerotic plaque, Thickened skin, Localized skin lesion, Erythema, Hypopigmented skin p... |
ORPHA:90289 |
Lig4 Syndrome |
|
Clinodactyly of the 5th finger, Cutaneous photosensitivity, Erythema, Telangiectasia of the skin |
ORPHA:99812 |
Adult-Onset Still Disease |
|
Pruritus, Erythema, Skin rash |
ORPHA:829 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:222470 |
Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Facial erythema |
OMIM:618307 |
Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Woolly hair, Thoracic hy... |
OMIM:618268 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Perianal erythema, Postaxial hand polydactyly,... |
OMIM:308205 |
Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
Gaucher Disease, Perinatal Lethal |
|
Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Ichthyosis, Neonatal death, Pet... |
OMIM:608013 |
Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Porokeratosis, Short metacarpal, Small for gestational age, Metaphyseal s... |
ORPHA:221008 |
Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa |
OMIM:301845 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Failure to thrive, Epidermal acanthosis, Recurrent bronchiolitis, Recurrent pneumonia |
OMIM:616069 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Sparse hair |
OMIM:115150 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
Nodular Non-Suppurative Panniculitis |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Erythema |
ORPHA:33577 |
Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo... |
OMIM:304110 |
Ifap Syndrome 2 |
|
Ichthyosis follicularis, Perioral erythema |
OMIM:619016 |
Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Premature skin wrin... |
ORPHA:90348 |
Juvenile Dermatomyositis |
|
Skin rash, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer, Cutaneous photosensitivity... |
ORPHA:93672 |
Fibromuscular Dysplasia, Multifocal |
|
Atrophic scars, Striae distensae, Dermal translucency |
OMIM:619329 |
Chronic Graft Versus Host Disease |
|
Poor wound healing, Thickened skin, Erythema, Intermittent generalized erythematous papular rash,... |
ORPHA:99921 |
Leukocyte Adhesion Deficiency Type Ii |
|
Skin vesicle |
ORPHA:99843 |
Bloom Syndrome |
|
Syndactyly, Small for gestational age, Recurrent upper respiratory tract infections, Facial eryth... |
OMIM:210900 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Nail dystrophy, Nail dysplasia, Abnormality of hair texture |
OMIM:601957 |
Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Facial erythema |
ORPHA:439218 |
Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Folliculitis, Epidermoid cyst, Palmoplantar hyperkeratosis |
OMIM:167210 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Pustule, Hyperkeratosis, Skin rash |
OMIM:612852 |
Cardiofaciocutaneous Syndrome |
|
Low-set, posteriorly rotated ears, Failure to thrive in infancy, Abnormal morphology of ulna, Red... |
ORPHA:1340 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Focal Dermal Hypoplasia |
|
Finger syndactyly, Toe syndactyly, Telangiectasia of the skin, Abnormal palmar dermatoglyphics, C... |
ORPHA:2092 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Recurrent respiratory infections, Camptodactyly of finger, Abnormality of the hand, Macrotia, Ery... |
ORPHA:2273 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair |
ORPHA:2221 |
Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
Rat-Bite Fever |
|
Sepsis, Meningitis, Scaling skin, Weight loss |
ORPHA:31205 |
Fucosidosis |
|
Acrocyanosis, Generalized hyperkeratosis, Vascular skin abnormality |
ORPHA:349 |
Parkes Weber Syndrome |
|
Abnormal femoral metaphysis morphology, Prominent superficial blood vessels, Skin ulcer, Hypertro... |
ORPHA:90307 |
Kikuchi-Fujimoto Disease |
|
Macule, Erythematous macule, Skin rash, Pruritus, Pustule, Skin nodule, Erythema, Skin plaque, Cu... |
ORPHA:50918 |
Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Palmar pits, Epidermal acanthosis |
OMIM:618267 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Nevus |
OMIM:620189 |
Restrictive Dermopathy 1 |
|
Prominent superficial blood vessels, Rocker bottom foot, Epidermal hyperkeratosis, Scaling skin, ... |
OMIM:275210 |
Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Prematurely aged appearance, Thickened skin, Skin nodule, Palmoplant... |
OMIM:601812 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Erythema, Skin rash, Death in childhood |
OMIM:618321 |
Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair |
ORPHA:1520 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Hand clenching, Erythema, Talipes equinovarus, Low-set ears |
OMIM:614653 |
Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Prominent scalp veins, Recurrent skin infections, Increased ... |
ORPHA:3455 |
Sunct Syndrome |
|
Flushing, Facial erythema |
ORPHA:57145 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Sparse hair |
OMIM:607721 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Brittle hair, Absent nipple, Absent hair |
OMIM:614940 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Failure to thrive, Camptodactyly of finger, Progeroid facial appearance, Long fing... |
OMIM:256040 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Cutis laxa, Dermal translucency |
OMIM:614437 |
Trichothiodystrophy 8, Nonphotosensitive |
|
Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa |
OMIM:619691 |
Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair |
OMIM:616943 |
Progeroid Syndrome, Petty Type |
|
Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows... |
ORPHA:2963 |
Gcgr-Related Hyperglucagonemia |
|
Necrolytic migratory erythema |
ORPHA:438274 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Hyperkeratosis, Recurrent bacterial skin infections, Ichthyosis |
OMIM:148210 |
Weaver Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair |
ORPHA:3447 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Failure to thrive, ... |
OMIM:619503 |
Tempi Syndrome |
|
Telangiectasia, Facial erythema |
ORPHA:284227 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Thickened skin, Skin ulcer, Protruding ear, Scaling skin, Dry skin |
ORPHA:2526 |
Noonan Syndrome 2 |
|
Sparse eyebrow, Curly hair, Low posterior hairline |
OMIM:605275 |
Bethlem Myopathy |
|
Hyperkeratosis, Cigarette-paper scars |
ORPHA:610 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
Noonan Syndrome 10 |
|
Sparse eyebrow, Curly hair |
OMIM:616564 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai... |
ORPHA:444077 |
Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ... |
OMIM:300953 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cigarette-paper scars, Molluscoid pseudotumors, Ecchymosis, Bruising susceptibility, Fragile skin... |
OMIM:130050 |
Ramon Syndrome |
|
Hyperkeratosis, Angiokeratoma, Telangiectasia |
OMIM:266270 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly |
OMIM:610644 |
Dermatomyositis |
|
Aplasia/Hypoplasia of the skin, Telangiectasia of the skin, Pruritus, Erythema, Skin ulcer, Acroc... |
ORPHA:221 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Telangiectasia of the skin, Nevus, Seborrheic dermatitis |
ORPHA:276280 |
Pearson Marrow-Pancreas Syndrome |
|
Small for gestational age, Erythema, Recurrent infections, Pallor, Failure to thrive |
OMIM:557000 |
Liver Disease, Severe Congenital |
|
Blue nevus, Jaundice, Eczema, Dermal translucency |
OMIM:619991 |
Loeys-Dietz Syndrome 1 |
|
Dermal translucency |
OMIM:609192 |
Vulto-Van Silfhout-De Vries Syndrome |
|
Widow's peak, Horizontal eyebrow, Fine hair |
OMIM:615828 |
Angioedema, Hereditary, 1 |
|
Angioedema, Erythema |
OMIM:106100 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, High anterior hairline, Th... |
OMIM:619950 |
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Macule, Skin rash, Hypermelanotic macule, Erythema, Bruising susceptibility, Erysipelas |
ORPHA:32960 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis, Hypermelanotic macule, Telangiectasia, Dermal atrophy, Cutaneous photosensitivity |
OMIM:278800 |
Leprosy |
|
Urticarial plaque, Hypopigmented macule, Skin nodule, Penetrating foot ulcers, Verrucous papule, ... |
ORPHA:548 |
Vascular Ehlers-Danlos Syndrome |
|
Macule, Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Subcutaneous nod... |
ORPHA:286 |
Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Erythema |
OMIM:619183 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
High anterior hairline, Long eyelashes, Fine hair |
ORPHA:231137 |
Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
Hermansky-Pudlak Syndrome |
|
Hyperkeratosis, Thickened skin, Bruising susceptibility, Melanocytic nevus |
ORPHA:79430 |
Chand Syndrome |
|
Curly hair, Nail dysplasia |
ORPHA:1401 |
Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Breast hypoplasia, Nail pits, Fine hair, Fingernail d... |
ORPHA:978 |
Loeys-Dietz Syndrome 2 |
|
Striae distensae, Dermal translucency |
OMIM:610168 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Cupped ear, Recurrent infections, Hyperkeratosis, Failure to thrive, Heari... |
OMIM:617052 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Proximal placement of thumb, ... |
ORPHA:1896 |
Behcet Syndrome |
|
Erythema nodosum, Erythema |
OMIM:109650 |
Rapp-Hodgkin Syndrome |
|
Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive... |
OMIM:129400 |
Acrogeria |
|
Fine hair |
ORPHA:2500 |
Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Patellar hypoplasia, Conductive hearing impairment, Hypoplasia of the uln... |
OMIM:218600 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology |
ORPHA:3082 |
Loeys-Dietz Syndrome 3 |
|
Atrophic scars, Bruising susceptibility, Striae distensae, Dermal translucency |
OMIM:613795 |
Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor... |
ORPHA:634 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Skin rash, Acantholysis, Skin ulcer, Atypical scarring of s... |
ORPHA:95455 |
Melas |
|
Failure to thrive, Erythema, Sensorineural hearing impairment |
ORPHA:550 |
Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Poor wound healing, Excessive wrinkled skin, Molluscoid pseudotumors, Thin skin, Follicular hyper... |
OMIM:225400 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema |
OMIM:118650 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the... |
ORPHA:3353 |
2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
Blau Syndrome |
|
Skin rash, Erythema nodosum, Erythema, Skin ulcer, Ichthyosis, Dry skin, Papule |
ORPHA:90340 |
Urachal Cyst |
|
Severe infection, Erythema |
ORPHA:488 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Thickened skin, Protruding ear, Hyperkeratosis, Large hands,... |
ORPHA:508 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Atrophic scars, Bruising susceptibility, Follicular hyperkeratosis, Cutis laxa |
OMIM:614557 |
Zttk Syndrome |
|
Sparse eyebrow, Curly hair, Broad eyebrow |
OMIM:617140 |
Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails |
OMIM:218040 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow |
OMIM:617412 |
Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Brachydactyly, Mesoaxial foot polydactyly, Overlapping toe, Broad hallux, Single transverse palma... |
OMIM:612474 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis |
OMIM:615510 |
Distal Duplication 6P |
|
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity |
ORPHA:1745 |
Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Finger dactylitis, Abnormality of the wrist, Psoriasiform lesion, Toe dactylitis |
ORPHA:85436 |
Cowden Syndrome |
|
Macule, Subcutaneous nodule, Hypopigmented skin patches, Melanocytic nevus, Palmoplantar keratode... |
ORPHA:201 |
Tonne-Kalscheuer Syndrome |
|
Fine hair, Small nail, Concave nail |
OMIM:300978 |
Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Preaxial polydactyly, Femoral bowing, Short metacarp... |
OMIM:210710 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Coarse hair, Brittle hair, Abnormality of hair texture |
OMIM:219200 |
Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Coarse hair, Hirsutism, Hypertrichosis |
OMIM:252930 |
Reactive Arthritis |
|
Pustule, Hyperkeratosis |
ORPHA:29207 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
Woodhouse-Sakati Syndrome |
|
Bilateral sensorineural hearing impairment, Scaling skin, Protruding ear |
ORPHA:3464 |
Hall-Riggs Syndrome |
|
Coarse hair, Slow-growing hair, Thick hair |
ORPHA:2107 |
Fabry Disease |
|
Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Subcutaneous nodule, Hype... |
ORPHA:324 |
Chronic Actinic Dermatitis |
|
Cutaneous photosensitivity, Epidermal acanthosis |
ORPHA:330064 |
Mucoepithelial Dysplasia, Hereditary |
|
Chronic mucocutaneous candidiasis, Follicular hyperkeratosis |
OMIM:158310 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Recurrent respiratory infections, Anomaly of lower limb diaphyses, Recurrent... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Recurrent respiratory infections, Anomaly of lower limb diaphyses, Recurrent... |
ORPHA:363958 |
Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:617988 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Fine hair |
OMIM:616817 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow |
OMIM:619244 |
Familial Mediterranean Fever |
|
Erysipelas, Erythema, Skin rash |
ORPHA:342 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Sparse hair, Synophrys, Low anterior hairline, Fine hair |
ORPHA:391408 |
19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ... |
ORPHA:217346 |
Trichorhinophalangeal Syndrome, Type I |
|
Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp... |
OMIM:190350 |
Vipoma |
|
Intermittent jaundice, Erythema, Subcutaneous lipoma, Weight loss |
ORPHA:97282 |
Atypical Werner Syndrome |
|
Failure to thrive, Prominent superficial veins, Prematurely aged appearance, Rocker bottom foot, ... |
ORPHA:79474 |
6Q Terminal Deletion Syndrome |
|
Hallux valgus, Low-set, posteriorly rotated ears, Obesity, Hyperkeratosis, Clinodactyly, Failure ... |
ORPHA:75857 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Recurrent respiratory infections, Macrotia, Erythema, Fragile skin |
OMIM:614748 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Arachnodactyly, Abnormality of the hand, Poor wound healing, Sensorineural hearing impairment, Di... |
ORPHA:536545 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Erythema, Abnormal earlobe morphology, Cleft earlobe, Failure to thrive, Hearing impairment |
ORPHA:2556 |
Zollinger-Ellison Syndrome |
|
Jaundice, Erythema, Weight loss |
ORPHA:913 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Fine hair |
OMIM:619428 |
Relapsing Polychondritis |
|
Sensorineural hearing impairment, Erythema, Chondritis of pinna, Purpura |
ORPHA:728 |
Fetal Hydantoin Syndrome |
|
Coarse hair, Hypoplastic fingernail, Low posterior hairline |
ORPHA:1912 |
Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Brittle hair, Trichorrhexis nodosa |
OMIM:616395 |
Glucagonoma |
|
Skin rash, Necrolytic migratory erythema, Pruritus, Intermittent jaundice, Subcutaneous lipoma |
ORPHA:97280 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sparse eyebrow, Curly hair, Broad lateral eyebrow |
ORPHA:500150 |
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Synophrys, Long eyelashes, Fine hair |
OMIM:620250 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp... |
OMIM:305100 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail |
OMIM:268130 |
Multiple Endocrine Neoplasia Type 4 |
|
Erythema, Confetti-like hypopigmented macules, Subcutaneous lipoma |
ORPHA:276152 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Hypoplastic nipples, Hypertrichosis |
ORPHA:480880 |
Gorlin-Chaudhry-Moss Syndrome |
|
Coarse hair, Low anterior hairline, Generalized hirsutism |
ORPHA:2095 |
Sympathetic Ophthalmia |
|
Erythema, Tinnitus, Hearing impairment |
ORPHA:79098 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Recurrent respiratory infections, Toe syndactyly, Split hand, Hyperkeratosis, Ectodermal dysplasi... |
OMIM:129900 |
Lymphatic Filariasis |
|
Hyperkeratosis |
ORPHA:2035 |
Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
Kawasaki Disease |
|
Palmoplantar erythema, Jaundice, Meningitis, Recurrent pharyngitis |
ORPHA:2331 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails... |
ORPHA:1071 |
Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow |
ORPHA:1394 |
Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Cachexia, Metatarsus valgus, Thickened skin, Abno... |
ORPHA:744 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair |
OMIM:618810 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Overlapping toe, Arachnodactyly, Single transverse palmar crease, Epidermal acanth... |
ORPHA:83617 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
Scorpion Envenomation |
|
Erythema, Purpura |
ORPHA:466677 |
Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hirsutism |
OMIM:617303 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, Fine hair |
OMIM:614091 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Split hand, Hyperkeratosis, Ectodermal dysplasia, Split foot, Ectrodactyly, Micro... |
OMIM:604292 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture |
ORPHA:96169 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Premature graying of hair, Alopecia, Nail dysplasia, Fine hair |
OMIM:613990 |
Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:613451 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
Ogden Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:276432 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:608612 |
Trisomy 20P |
|
Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th... |
ORPHA:261318 |
Orofaciodigital Syndrome Type 3 |
|
Abnormality of hair texture |
ORPHA:2752 |
Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple, Fine hair |
ORPHA:1812 |
Acrofacial Dysostosis, Catania Type |
|
Coarse hair, Abnormal hair pattern |
ORPHA:1786 |
Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... |
ORPHA:2108 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair |
OMIM:236200 |
Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Trichorrhexis nodosa |
OMIM:207900 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Fine hair |
OMIM:614800 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Tiger tail banding, Alope... |
ORPHA:33364 |
Schimke Immunoosseous Dysplasia |
|
Coarse hair, Fine hair |
OMIM:242900 |
Multiple Sulfatase Deficiency |
|
Coarse hair, Thick eyebrow |
ORPHA:585 |
Koolen-De Vries Syndrome |
|
Fair hair, Abnormality of hair texture |
OMIM:610443 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Sparse eyelashes, Fine hair |
OMIM:257850 |
Diamond-Blackfan Anemia 21 |
|
Synophrys, Coarse hair, Horizontal eyebrow, Widow's peak |
OMIM:620072 |
Macrocephaly/Autism Syndrome |
|
Coarse hair |
OMIM:605309 |
Pseudoxanthoma Elasticum |
|
Civatte bodies, Cutis laxa |
OMIM:264800 |
2P15P16.1 Microdeletion Syndrome |
|
Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair |
ORPHA:261349 |
Cranioectodermal Dysplasia 3 |
|
Sparse hair, Short nail, Broad nail, Fine hair |
OMIM:614099 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Orthokeratotic hyperkeratosis, Epidermal thickening, Thickened skin |
ORPHA:73223 |
Mucopolysaccharidosis, Type Iiid |
|
Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow |
OMIM:252940 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Coarse hair, Thick hair |
ORPHA:357074 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture |
ORPHA:79351 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Fine hair |
ORPHA:251028 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Coarse hair, Nail dysplasia |
OMIM:612394 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak |
ORPHA:1974 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Brittle hair, Fine hair |
OMIM:618891 |
Weaver Syndrome |
|
Sparse hair, Thin nail, Deep-set nails, Fine hair |
OMIM:277590 |
Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails |
OMIM:164200 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Trichorrhexis nodosa |
ORPHA:84064 |
Mucopolysaccharidosis, Type Vii |
|
Coarse hair, Thick eyebrow, Hirsutism |
OMIM:253220 |
Genitopatellar Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:85201 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Low anterior hairline |
OMIM:618569 |
Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Long ... |
OMIM:601358 |
Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair |
OMIM:234100 |
Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
OMIM:607812 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Aplasia/Hypoplasia of the eyebrow, Fine hair |
ORPHA:2637 |
Dubowitz Syndrome |
|
Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Low anterior hairline, F... |
ORPHA:235 |
Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Fine hair |
OMIM:616202 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia |
ORPHA:920 |
Lateral Meningocele Syndrome |
|
Coarse hair |
OMIM:130720 |
Opitz-Kaveggia Syndrome |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:305450 |
Scalp-Ear-Nipple Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas... |
OMIM:181270 |
Cerebellar-Facial-Dental Syndrome |
|
Sparse hair, Sparse eyebrow, Fine hair |
ORPHA:444072 |
Marshall-Smith Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypertrichosis |
OMIM:602535 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
Adrenomyeloneuropathy |
|
Frontal balding, Fine hair |
ORPHA:139399 |
Mucopolysaccharidosis Type 3 |
|
Thick hair, Synophrys, Coarse hair, Generalized hirsutism, Hirsutism |
ORPHA:581 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Sparse hair, Fine hair, Highly arched eyebrow, Low posterior hairline |
OMIM:613563 |
Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Synophrys, Low anterior hairline, Coarse hair, Generalized hirsut... |
ORPHA:955 |
Mucolipidosis Type Ii |
|
Dry hair, White hair, Fine hair |
ORPHA:576 |
Orofaciodigital Syndrome Type 1 |
|
Sparse hair, Alopecia, Coarse hair, Brittle hair |
ORPHA:2750 |
Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Brittle hair, Sparse hair |
OMIM:252500 |
Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Short nail, Thin nail, Fine hair, Sparse hair |
OMIM:218330 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Fine hair, Hypoplastic nipples, Sparse hair, Sparse lateral eyebrow |
OMIM:280000 |
Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
Menkes Disease |
|
Sparse hair, Woolly hair, Hypopigmentation of hair |
ORPHA:565 |
Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
Noonan Syndrome |
|
Abnormal hair quantity, Coarse hair, Low posterior hairline |
ORPHA:648 |
Lysinuric Protein Intolerance |
|
Sparse hair, Fine hair |
OMIM:222700 |
Cockayne Syndrome B |
|
Sparse hair, Dry hair, Abnormal hair morphology |
OMIM:133540 |
Cockayne Syndrome Type 3 |
|
Premature graying of hair, Dry hair |
ORPHA:90324 |
Coffin-Siris Syndrome 1 |
|
Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Lumbosacral hirsutism, Long eyelashes,... |
OMIM:135900 |
Myhre Syndrome |
|
Sparse hair, Thick eyebrow, Fine hair |
OMIM:139210 |
Distal Deletion 12Q |
|
Small nail, Fine hair |
ORPHA:96149 |
Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip... |
OMIM:305600 |
Cockayne Syndrome A |
|
Sparse hair, Dry hair |
OMIM:216400 |
Occipital Horn Syndrome |
|
Coarse hair, Pili torti |
OMIM:304150 |
Ogden Syndrome |
|
Sparse eyebrow, Long eyelashes, Fine hair |
OMIM:300855 |
Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture |
ORPHA:667 |
Melnick-Needles Syndrome |
|
Coarse hair, Frontal hirsutism |
OMIM:309350 |
Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Fine hair |
ORPHA:534 |
Cockayne Syndrome |
|
Dry hair, Fine hair |
ORPHA:191 |
Occipital Horn Syndrome |
|
Coarse hair, Thick hair |
ORPHA:198 |
Renpenning Syndrome 1 |
|
Sparse hair, Brittle hair, Sparse lateral eyebrow |
OMIM:309500 |
Neuroocular Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e... |
OMIM:619539 |
Coffin-Lowry Syndrome |
|
Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow |
OMIM:303600 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair |
OMIM:124000 |
Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Hyperconvex nail, Fine hair, High anterior hairline, Fragile nails |
OMIM:613406 |
Noonan Syndrome 1 |
|
Woolly hair, Low posterior hairline |
OMIM:163950 |
Alström Syndrome |
|
Frontal balding, Hirsutism, Fine hair |
ORPHA:64 |