| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis, Reticular hyperpigmentation, Hypomelanotic macule |
OMIM:615327 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
| Hypotrichosis 1 |
|
Sparse pubic hair, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axillary hair, Spar... |
OMIM:605389 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Hypotrichosis 4 |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair |
OMIM:146550 |
| Hypotrichosis Simplex |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
ORPHA:55654 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Gingival hyperkeratosis, Subungual hyperkeratosis, Focal friction-related palmoplantar hyperkerat... |
OMIM:148730 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Follicular hyperkeratosis, Perioral hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ... |
OMIM:613000 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Hypotrichosis 11 |
|
Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill... |
OMIM:615059 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of the nail, Sparse scalp hair |
OMIM:614238 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Multiple cafe-au-lait spots, Irregular hyperpigmentation, Hyperkeratosis |
ORPHA:1336 |
| Hypotrichosis 2 |
|
Abnormality of the nail, Sparse scalp hair |
OMIM:146520 |
| Leukomelanoderma, Infantilism, Impaired Intellectual Development, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis |
OMIM:617574 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair |
OMIM:617251 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Trichorrhexis nodosa, Sparse eyelashes, Curly hair, Sparse hair, Sparse scalp hair |
OMIM:616760 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101850 |
| Dermatoleukodystrophy |
|
Thickened skin, Hyperkeratosis |
ORPHA:1659 |
| Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome |
|
Palmoplantar keratoderma, Ichthyosis |
ORPHA:281201 |
| Palmoplantar Keratoderma, Punctate Type Ii |
|
Spinous keratoses of palms and soles, Porokeratosis |
OMIM:175860 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Ichthyosis Hystrix, Lambert Type |
|
Orthokeratotic hyperkeratosis, Hyperkeratosis |
OMIM:146600 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Erythroderma, Generaliz... |
OMIM:615024 |
| Epidermolytic Hyperkeratosis 2A, Autosomal Dominant |
|
Palmoplantar keratoderma, Generalized hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplant... |
OMIM:620150 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Alopecia, Sparse hair, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin, Spotty hyperpigmentation, Crusting e... |
ORPHA:79147 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis, Abnormality of skin pigmentation |
ORPHA:315 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Spotty hyperpigmentation, Parakeratosis, Generalized reticulate brown pigmentation, Hyperpigmenta... |
ORPHA:158681 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Parakeratosis, Pruritus, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| Vohwinkel Syndrome, Variant Form |
|
Orthokeratosis, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis, Parakeratosis, Hyperkerat... |
OMIM:604117 |
| Acne Inversa, Familial, 3 |
|
Chronic furunculosis, Perifolliculitis, Acne inversa, Recurrent cutaneous abscess formation |
OMIM:613737 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Honeycomb palmoplantar hyperkeratosis, Ichthyosis, Linear arrays of macular hyperkeratoses in fle... |
OMIM:601952 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme... |
OMIM:145250 |
| Acanthosis Nigricans |
|
Acanthosis nigricans |
OMIM:100600 |
| Porokeratosis 6, Multiple Types |
|
Porokeratosis |
OMIM:612353 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Porokeratosis 9, Multiple Types |
|
Porokeratosis |
OMIM:616631 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis |
ORPHA:737 |
| Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Insulin-Resistance Syndrome Type A |
|
Generalized hyperpigmentation, Hyperkeratosis |
ORPHA:2297 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Parakeratosis, Palmopl... |
OMIM:300918 |
| Uncombable Hair Syndrome 3 |
|
Pili canaliculi, Brittle hair, Uncombable hair, Curly hair |
OMIM:617252 |
| Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Hyperkeratosis |
OMIM:602723 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Spotty hyperpigmentation, Pruritus, Mixed hypo- and hyperpigmentation of the skin, Hypomelanotic ... |
ORPHA:79399 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Peeling Skin Syndrome 6 |
|
Atopic dermatitis, Parakeratosis, Pruritus, Orthokeratosis |
OMIM:618084 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
| Infantile Digital Fibromatosis |
|
Parakeratosis, Hyperkeratosis |
ORPHA:199267 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Parakeratosis |
OMIM:173200 |
| Alopecia Universalis Congenita |
|
Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair |
OMIM:203655 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Acne inversa, Chronic furunculosis, Perifolliculitis, Follicular hyperkeratosis, Recurrent cutane... |
OMIM:613736 |
| Ichthyosis With Erythrokeratoderma |
|
Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Diffuse palmoplantar hyperkerato... |
OMIM:620507 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:615598 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair |
ORPHA:505 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Hyperkeratosis, Ichthyosis |
ORPHA:79503 |
| Alopecia Areata 2 |
|
Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis |
OMIM:610753 |
| Trichodysplasia-Xeroderma Syndrome |
|
Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P... |
ORPHA:3361 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Sparse eyebrow, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toenails,... |
ORPHA:2722 |
| Hair Defect With Photosensitivity And Impaired Intellectual Development |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:234030 |
| Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
| Monilethrix |
|
Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair |
OMIM:158000 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia universalis, Alopecia |
OMIM:203650 |
| Marie Unna Hereditary Hypotrichosis |
|
Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal... |
ORPHA:444 |
| Verrucous Hemangioma |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin |
ORPHA:464318 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Erythroderma, Congenital nonbullous icht... |
OMIM:604777 |
| Uncombable Hair Syndrome 1 |
|
Dry hair, Pili canaliculi, Uncombable hair |
OMIM:191480 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Orthokeratosis, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Hypergranulosis,... |
ORPHA:79395 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Orthokeratosis, Palmoplantar keratoderma, Parakeratosis, Erythroderma, Generalized ichthyosis, Hy... |
OMIM:612281 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse pubic hair, Abnormal hair morphology, Onychogryposis of toenails, Nail dystrophy, Sparse e... |
ORPHA:1808 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Olmsted Syndrome 2 |
|
Palmoplantar keratoderma, Perioral hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Pr... |
OMIM:619208 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Pityriasis Rubra Pilaris |
|
Thickened skin, Subungual hyperkeratosis, Irregular hyperpigmentation, Palmoplantar keratoderma, ... |
ORPHA:2897 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Hypotrichosis 7 |
|
Abnormal sweat gland morphology, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse axill... |
OMIM:604379 |
| Bazex Syndrome |
|
Palmoplantar keratoderma, Lip hyperpigmentation, Parakeratosis, Acanthosis nigricans, Pruritus, H... |
ORPHA:166113 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma, Generalized hyperkeratosis |
OMIM:133200 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Follicular hyperkeratosis, Hyperkeratosis, Axillary and groin hyperpigment... |
ORPHA:69125 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis |
OMIM:615785 |
| Woolly Hair |
|
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... |
ORPHA:170 |
| Hypotrichosis Simplex Of The Scalp |
|
Allergic rhinitis, Atopic dermatitis, Parakeratosis, Pruritus, Hyperkeratosis |
ORPHA:90368 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform eryt... |
OMIM:617571 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Reduced terminal:vellus ratio, Pili torti, Sparse hair, Abnormality of the nail, Sparse scalp hair |
OMIM:601553 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Abnormality of hair texture, Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the ey... |
ORPHA:2891 |
| Alopecia Areata 1 |
|
Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits |
OMIM:104000 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Nail dystrophy, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:211390 |
| Palmoplantar Keratoderma, Epidermolytic, 2 |
|
Curly hair |
OMIM:620411 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp |
OMIM:617294 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritus on foot, Eczematoid dermatitis, Pruritis on breast, Parakeratosis, Pruritis on hand, Pru... |
ORPHA:64745 |
| Hypertrichosis, Congenital Generalized, 2 |
|
Hirsutism, Congenital, generalized hypertrichosis |
OMIM:307150 |
| Hypotrichosis 13 |
|
Abnormal sweat gland morphology, Sparse hair, Woolly hair, Sparse eyelashes |
OMIM:615896 |
| Familial Isolated Café-Au-Lait Macules |
|
Multiple cafe-au-lait spots, Freckling |
ORPHA:2678 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Congenital ichthyosiform erythroderma, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Er... |
OMIM:242300 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Woolly hair, Sparse scalp hair |
OMIM:616099 |
| Pili Torti |
|
Alopecia, Abnormal eyebrow morphology, Pili torti, Brittle hair, Abnormality of hair texture, Abn... |
ORPHA:2889 |
| Parana Hard Skin Syndrome |
|
Thickened skin, Generalized hyperpigmentation, Hyperkeratosis |
ORPHA:2812 |
| Immunodeficiency 51 |
|
Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc... |
OMIM:613953 |
| Congenital Smooth Muscle Hamartoma, With Or Without Hemihypertrophy |
|
Hypertrichosis |
OMIM:620470 |
| Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses |
|
Sparse eyebrow, Absent eyebrow, Sparse scalp hair, Sparse eyelashes |
OMIM:620199 |
| Hypotrichosis 12 |
|
Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Sparse or absent eyelashes, Sparse ... |
OMIM:615885 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617526 |
| Ectodermal Dysplasia 5, Hair/Nail Type |
|
Dystrophic fingernails, Absent toenail, Sparse scalp hair |
OMIM:614927 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Orthokeratosis, Palmoplantar keratoderma, Hyperparakeratosis, Periorifi... |
OMIM:614594 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| Monilethrix |
|
Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hair, Abnorma... |
ORPHA:573 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Sparse hair |
OMIM:617073 |
| Woolly Hair, Autosomal Dominant |
|
Dry hair, Coarse hair, Abnormal eyebrow morphology, Slow-growing hair, Abnormal eyelash morpholog... |
OMIM:194300 |
| Trichodental Dysplasia |
|
Sparse hair, Slow-growing hair, Fine hair, Brittle hair |
OMIM:601453 |
| Witkop Syndrome |
|
Abnormal sweat gland morphology, Fine hair, Ridged nail, Concave nail, Hypoplastic fifth toenail,... |
OMIM:189500 |
| Crandall Syndrome |
|
Alopecia, Fine hair, Sparse body hair, Brittle hair, Pili torti, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
| Dowling-Degos Disease 4 |
|
Pruritus, Hypergranulosis |
OMIM:615696 |
| Bathing Suit Ichthyosis |
|
Thickened skin, Ichthyosis, Parakeratosis, Palmoplantar hyperkeratosis, Erythroderma, Congenital ... |
ORPHA:100976 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Orthokeratosis, Hyperparakeratosis, Ichthyosis, Palmoplantar hyperkeratosis, Congenital bullous i... |
OMIM:607602 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Hypopigmentation of the skin, Hyperpigmentation of the skin, Palmoplantar hyperkeratosis, Pruritu... |
ORPHA:89838 |
| Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus |
ORPHA:498359 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Sparse body hair, Absent axillary hair, Sparse hair, Short eyelashes |
OMIM:618275 |
| Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Hypopigmentation of the skin, Scleroderma, Morphea, Hyperpi... |
ORPHA:90158 |
| Hypotrichosis 6 |
|
Sparse eyebrow, Sparse eyelashes, Pili torti, Brittle hair, Sparse hair |
OMIM:607903 |
| Acne Inversa, Familial, 1 |
|
Acne inversa |
OMIM:142690 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Parakeratosis, Hyperkeratosis |
OMIM:618339 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Palmoplantar keratoderma, Ichthyosis, Parakeratosis, Pruritus, Hyperkeratosis |
OMIM:615821 |
| Chilblain Lupus 2 |
|
Chilblains |
OMIM:614415 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Hyperkeratotic papule, Mottled pigmentation, Hypermelanotic macule, Hypomelanotic macule, Spotty ... |
ORPHA:79397 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hypergranulosis |
OMIM:615022 |
| Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Ichthyosis |
OMIM:146700 |
| Hypotrichosis 9 |
|
Sparse eyebrow, Sparse body hair, Abnormal eyelash morphology, Abnormality of the nail, Sparse sc... |
OMIM:614237 |
| Hypotrichosis 8 |
|
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... |
OMIM:278150 |
| Pili Torti, Early-Onset |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Co... |
OMIM:261900 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis, Hyperkeratosis |
OMIM:610227 |
| Ulerythema Ophryogenesis |
|
Acne, Hyperkeratotic papule, Contact dermatitis, Follicular hyperkeratosis |
ORPHA:3406 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Absent hair, Nail... |
OMIM:614931 |
| Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Pruritus |
ORPHA:83453 |
| Benign Cephalic Histiocytosis |
|
Inflammatory abnormality of the skin, Skin rash |
ORPHA:157997 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Ichthyosis, Erythroderma, Hyperkeratosis, Congenital bullous ichthyosif... |
ORPHA:312 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Sacral hypertrichosis, Thoracic hypertrichosis, Lumbar hypertrichosis, Anterior cervical hypertri... |
OMIM:117850 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Palmoplantar keratoderma, Superficial dermal perivascular i... |
ORPHA:87503 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dys... |
OMIM:602032 |
| Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Conjunctivitis, Pruritus, Hyperkeratosis, Blepharitis |
ORPHA:254478 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Superficial dermal perivascular inflammatory infilt... |
ORPHA:284426 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Dystrophic toenail, Sparse eyelashes, ... |
OMIM:614929 |
| Acquired Ichthyosis |
|
Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Pruritus, Hyperkeratosis |
ORPHA:454 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair |
ORPHA:1008 |
| Dissecting Cellulitis Of The Scalp |
|
Pruritus, Recurrent skin infections |
ORPHA:345 |
| Psoriasis 14, Pustular |
|
Psoriasiform dermatitis, Pustule, Parakeratosis, Oligoarthritis, Cholangitis |
OMIM:614204 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair |
ORPHA:2266 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Sparse body hair, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelas... |
ORPHA:1818 |
| Parc Syndrome |
|
Absent eyelashes, Alopecia, Absent eyebrow |
OMIM:600331 |
| Netherton Syndrome |
|
Allergic rhinitis, Eczematoid dermatitis, Chronic rhinitis, Parakeratosis, Erythroderma, Recurren... |
OMIM:256500 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Plantar hyperkeratosis, Localized epidermolytic hyperkeratosis, Palmoplantar hyperkeratosis, Palm... |
OMIM:144200 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Ichthyosis, Hyperkeratosis, Hypergranulosis |
OMIM:613943 |
| Ichthyosis Prematurity Syndrome |
|
Allergic rhinitis, Hyperpigmentation of the skin, Follicular hyperkeratosis, Erythroderma, Genera... |
OMIM:608649 |
| Darier Disease |
|
Thickened skin, Palmoplantar keratoderma, Subungual hyperkeratotic fragments, Acrokeratosis, Abno... |
ORPHA:218 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar keratoderma, Cobblestone-like hyperkeratosis, Ichthyosis, Punctate keratitis, Palmop... |
OMIM:602540 |
| Chilblain Lupus |
|
Discoid lupus rash, Inflammatory abnormality of the skin, Malar rash, Skin rash, Pruritis on hand... |
ORPHA:90280 |
| Kerion Celsi |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form... |
ORPHA:499 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Sparse eyebrow, Fine hair, Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse hair |
OMIM:129490 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Focal friction-related palmoplantar hyperkera... |
ORPHA:2200 |
| Bjornstad Syndrome |
|
Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al... |
OMIM:262000 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal toenail m... |
ORPHA:248 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Fine hair |
ORPHA:1174 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Orthokeratosis, Hypergranulosis, Erythroderma, Hyperkeratosis, Congenital nonbullous ichthyosifor... |
OMIM:615023 |
| Epidermolytic Palmoplantar Keratoderma |
|
Hypergranulosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hyperkeratosis, Palmar hyperke... |
ORPHA:2199 |
| Acrokeratosis Verruciformis |
|
Acrokeratosis, Acantholysis, Hyperkeratosis, Punctate palmoplantar hyperkeratosis |
OMIM:101900 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Chronic rhinitis, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:615225 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse eyebrow, Coarse hair, Trichorrhexis nodosa, Sparse or absent eyelashes, Pili torti, Sparse... |
ORPHA:113 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Brittle hair, Sparse hair |
OMIM:104100 |
| Classic Mycosis Fungoides |
|
Irregular hyperpigmentation, Eczematoid dermatitis, Hypopigmented skin patches, Skin rash, Prurit... |
ORPHA:2584 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Ridged fingernail, Fine hair, Supernumerary nipple, Abnormal fingernail morphology, Bifid nail, T... |
ORPHA:1433 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Dystrophic toenail |
OMIM:619209 |
| Dermatitis, Atopic |
|
Allergic rhinitis, Atopic dermatitis, Eczematoid dermatitis, Pruritus, Ichthyosis, Conjunctivitis... |
OMIM:603165 |
| Kondoh Syndrome |
|
Sparse hair, Thick eyebrow, Widow's peak |
OMIM:606242 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy |
OMIM:619692 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Plantar hyperkeratosis, Pruritus |
OMIM:616487 |
| Neonatal Lupus Erythematosus |
|
Malar rash, Skin rash, Parakeratosis, Maculopapular exanthema, Hyperkeratosis |
ORPHA:398124 |
| Chronic Actinic Dermatitis |
|
Allergic rhinitis, Eczematoid dermatitis, Hypopigmented skin patches, Progressive hyperpigmentati... |
ORPHA:330064 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis |
OMIM:607936 |
| Chand Syndrome |
|
Nail dysplasia, Curly hair |
OMIM:214350 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Orthokeratosis, Palmoplantar keratoderma, Hyperkeratosis, Hypergranulosis |
OMIM:617525 |
| Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
| Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Curly hair, Patchy hypopig... |
ORPHA:79414 |
| Dowling-Degos Disease |
|
Hyperkeratotic papule, Inguinal freckling, Acne inversa, Hypermelanotic macule, Mixed hypo- and h... |
ORPHA:79145 |
| Moynahan Syndrome |
|
Alopecia, Sparse hair |
ORPHA:2574 |
| Acral Peeling Skin Syndrome |
|
Eczematoid dermatitis, Hyperpigmentation of the skin, Ichthyosis |
ORPHA:263534 |
| Hypotrichosis 5 |
|
Abnormal sweat gland morphology, Alopecia, Thin eyebrow, Sparse eyelashes, Absent pubic hair, Abs... |
OMIM:612841 |
| Tietz Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... |
ORPHA:42665 |
| Epidermolytic Hyperkeratosis 1 |
|
Congenital bullous ichthyosiform erythroderma, Palmoplantar hyperkeratosis, Erythroderma |
OMIM:113800 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Sclerodactyly |
OMIM:212360 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyebrow, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pili torti, Brit... |
OMIM:602400 |
| Chromomycosis |
|
Hyperkeratotic papule, Keratitis, Hypopigmented skin patches, Hyperparakeratosis, Keratoconjuncti... |
ORPHA:182 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Alopecia, Coarse hair, Small nail, Hypoplastic toenails, Sparse eyelashes, Patchy alopecia, Pili ... |
OMIM:613573 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:620148 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse eyebrow, Sparse body hair, Leukonychia, Sparse eyelashes, Sparse axillary hair, Sparse hai... |
OMIM:613102 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Ridged fingernail, Thin toenail, Fine hair, Hypoplastic fingernail, Abnormal fingernail morpholog... |
ORPHA:2228 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Alopecia, Nail pits, Ridged nail, Nail dystrophy |
OMIM:601705 |
| Cardiofaciocutaneous Syndrome 2 |
|
Sparse hair, Absent eyebrow, Fine hair, Curly hair |
OMIM:615278 |
| Proliferating Trichilemmal Cyst |
|
Sparse scalp hair |
ORPHA:492 |
| Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair |
ORPHA:1006 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Recurrent otitis media, Hyperkeratosis, Cafe-au-lait spot |
OMIM:618625 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Acanthosis nigricans, Hyperkeratosis, Ichthyosis |
OMIM:618527 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Sparse scalp hair |
ORPHA:1882 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Palmoplantar keratoderma, Hypergranulosis, Orthokeratotic hyperkeratosis, Palmoplantar hyperkerat... |
OMIM:148700 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Distichiasis, Sparse hair, Absent lower eyelashes, Low anterior hairline |
OMIM:227260 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Fine hair, Fragile nails |
ORPHA:500166 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma |
OMIM:146590 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse body hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Sparse scalp hair |
OMIM:618535 |
| Paget Disease, Extramammary |
|
Eczematoid dermatitis |
OMIM:167300 |
| Schopf-Schulz-Passarge Syndrome |
|
Small nail, Poroma, Sparse body hair, Apocrine hidrocystoma, Ridged nail, Narrow nail, Nail dystr... |
OMIM:224750 |
| Cole Disease |
|
Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Punctate palmop... |
OMIM:615522 |
| Clouston Syndrome |
|
Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Brittle hair, Nail dystrophy, ... |
OMIM:129500 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans, Pruritus |
ORPHA:409 |
| Disseminated Superficial Actinic Porokeratosis |
|
Pruritus, Porokeratosis |
ORPHA:79152 |
| Naxos Disease |
|
Abnormality of hair texture, Woolly hair, Sparse scalp hair, Curly hair |
ORPHA:34217 |
| Erythrokeratodermia Variabilis |
|
Irregular hyperpigmentation, Patchy palmoplantar hyperkeratosis, Skin rash, Hypermelanotic macule... |
ORPHA:317 |
| Neuropathy, Hereditary Sensory, Type If |
|
Osteomyelitis, Hyperkeratosis |
OMIM:615632 |
| Focal Facial Dermal Dysplasia Type I |
|
Sparse lateral eyebrow, Low anterior hairline, Absent eyelashes, Distichiasis, Sparse hair |
ORPHA:79133 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Supernumerary nipple, Abnormal fingernail morphology, Sparse body hair, Abnormal toenail morpholo... |
ORPHA:1809 |
| Immunodeficiency 53 |
|
Recurrent otitis media, Recurrent pneumonia, Skin rash |
OMIM:617585 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis |
ORPHA:79100 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Onychogryposis of fingernail, Alopecia, Ridged fingernail, Fingernail dysplasia, Sparse hair |
ORPHA:2251 |
| Hypotrichosis 3 |
|
Abnormal sweat gland morphology, Abnormality of the nail, Abnormal eyelash morphology, Sparse sca... |
OMIM:613981 |
| Woolly Hair-Skin Fragility Syndrome |
|
Woolly hair |
OMIM:620415 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Orthokeratosis, Ichthyosis, Sclerosing cholangitis, Parakeratosis, Pruritus |
OMIM:607626 |
| Elastosis Perforans Serpiginosa |
|
Crusting erythematous dermatitis, Hyperkeratotic papule |
ORPHA:79148 |
| Lichen Planopilaris |
|
Pruritus, Hepatitis, Hyperkeratosis, Hypopigmented skin patches |
ORPHA:525 |
| Oliver-Mcfarlane Syndrome |
|
Long eyelashes, Long eyebrows, Alopecia, Sparse hair |
OMIM:275400 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Pili torti, Fine hair, Brittle hair |
ORPHA:1573 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Alopecia of scalp, Nail dystrophy, Absent eyelashes, Dystrophic fingernails, Absent eyebrow, Spar... |
OMIM:604536 |
| Pili Torti-Onychodysplasia Syndrome |
|
Alopecia universalis, Alopecia, Sparse body hair, Congenital onychodystrophy, Nail dystrophy, Abs... |
ORPHA:2890 |
| Mannose-Binding Lectin Deficiency |
|
Recurrent skin infections |
OMIM:614372 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Sparse body hair |
ORPHA:85274 |
| Trichothiodystrophy 2, Photosensitive |
|
Tiger tail banding, Coarse hair |
OMIM:616390 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:461 |
| Sjögren-Larsson Syndrome |
|
Generalized hyperpigmentation, Abnormality of retinal pigmentation, Ichthyosis, Inflammatory abno... |
ORPHA:816 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Thickened skin, Skin rash |
ORPHA:1658 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Sparse eyelashes, Thin eyebrow, Low anterior hairline, Brittle hair |
OMIM:617392 |
| Porphyria Cutanea Tarda, Type I |
|
Hyperpigmentation of the skin, Eczematoid dermatitis |
OMIM:176090 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Thickened skin, Hyperkeratosis |
OMIM:247100 |
| Pseudopelade Of Brocq |
|
Alopecia, Abnormal hair morphology, Aplasia/Hypoplasia of the eyebrow, Abnormality of the nail, S... |
ORPHA:129 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Sparse hair, Uncombable hair |
ORPHA:1264 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
| Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Ocular albinism, Freckling, ... |
ORPHA:79431 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Anonychia, Nail dystrophy, Sparse body hair |
ORPHA:79402 |
| Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Orthokeratosis, Hypergranulosis |
ORPHA:38 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Eczematoid dermatitis, Ichthyosis |
ORPHA:3055 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Acrokeratosis Verruciformis Of Hopf |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
ORPHA:79151 |
| Immunodeficiency 15A |
|
Acne inversa, Chronic mucocutaneous candidiasis, Cutaneous abscess, Recurrent otitis media, Recur... |
OMIM:618204 |
| Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Follicular hyperkeratosis, Palmoplantar keratoderma, Congenital bullous ichthyosiform erythroderma |
OMIM:613576 |
| Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Pseudoprogeria Syndrome |
|
Alopecia, Sparse eyebrow, Absent eyelashes, Absent eyebrow, Sparse hair |
ORPHA:2985 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Pruritus, Profuse pigmented skin lesions, Erythroderma |
ORPHA:280785 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
| Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Coarse hair, Thick eyebrow, Synophrys |
ORPHA:1021 |
| Irida Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:209981 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Long eyelashes, Alopecia, Sparse hair |
ORPHA:3363 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Brittle hair, Coarse hair |
ORPHA:1883 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkera... |
OMIM:606545 |
| Dermoodontodysplasia |
|
Toenail dysplasia, Sparse body hair, Fingernail dysplasia, Trichodysplasia, Sparse scalp hair |
ORPHA:1660 |
| Darier-White Disease |
|
Hypermelanotic macule, Subungual hyperkeratotic fragments, Acrokeratosis, Acantholysis, Pruritus |
OMIM:124200 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Sparse hair, Sparse body hair |
ORPHA:1810 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair |
OMIM:618724 |
| Erythema Nodosum, Familial |
|
Erythema nodosum |
OMIM:132990 |
| Immunodeficiency 104 |
|
Pneumonia, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Recurrent otitis media, Otit... |
OMIM:608971 |
| Harlequin Ichthyosis |
|
Ichthyosis, Erythroderma, Hyperkeratosis, Congenital ichthyosiform erythroderma |
ORPHA:457 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Psoriasiform dermatitis, Ichthyosis, E... |
OMIM:615508 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2698 |
| Bazex-Dupre-Christol Syndrome |
|
Coarse hair, Trichorrhexis nodosa, Pili torti, Sparse hair, Trichoepithelioma |
OMIM:301845 |
| Epidermodysplasia Verruciformis |
|
Hypopigmented skin patches, Pustule, Seborrheic dermatitis, Multiple cafe-au-lait spots, Recurren... |
ORPHA:302 |
| Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Ichthyosis, Honeycomb palmoplantar hyperkeratosis |
ORPHA:494 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Short eyelashes, Sparse body hair, Sparse axillary hair, Absent eyebrow, Sparse scalp hair |
OMIM:608615 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Aplasia/Hypoplasia of the eyebrow, Sparse hair, Sparse body hair |
ORPHA:181 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Follicular hyperkeratosis, Punctate palmoplantar hyperkeratosis, Pruritus, Aca... |
OMIM:616295 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Small nail, Trichorrhexis nodosa, Concave nail, Nail dystrophy, Sparse eyelashes, Nail dysplasia,... |
OMIM:234050 |
| Hydroa Vacciniforme |
|
Papulovesicular eruption, Keratitis, Eczematoid dermatitis, Malar rash, Superficial dermal periva... |
ORPHA:330058 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Hyperkeratosis |
ORPHA:2841 |
| Quinquaud Folliculitis Decalvans |
|
Pustule, Recurrent skin infections |
ORPHA:346 |
| Inflammatory Bowel Disease 28, Autosomal Recessive |
|
Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis |
OMIM:613148 |
| Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair |
OMIM:618681 |
| Copper Deficiency, Familial Benign |
|
Early balding, Curly hair |
OMIM:121270 |
| Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
| Trichohepatoenteric Syndrome 2 |
|
Sparse hair, Trichorrhexis nodosa, Uncombable hair, Brittle hair, Woolly hair |
OMIM:614602 |
| Xq27.3Q28 Duplication Syndrome |
|
Sparse body hair |
ORPHA:261483 |
| Proteus Syndrome |
|
Depigmentation/hyperpigmentation of skin, Hyperkeratosis |
OMIM:176920 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis |
OMIM:615907 |
| Variegate Porphyria, Childhood-Onset |
|
Atopic dermatitis, Epidermal hyperkeratosis |
OMIM:620483 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse eyebrow, Sparse body hair, Sparse eyelashes, Scarring alopecia of scalp, Sparse scalp hair |
ORPHA:59303 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Folliculitis, Palmoplantar keratoderma, Keratitis, Follicular hyperkeratosis, Conjunctivitis, Ble... |
OMIM:308800 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczematoid dermatitis, Hyperkeratosis, Ichthyosis, Abnormality of skin pigmentation |
OMIM:612379 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Sparse hair, Absent nipple, Brittle hair, Absent hair |
OMIM:614940 |
| Van Den Bosch Syndrome |
|
Acrokeratosis, Recurrent skin infections |
ORPHA:3417 |
| Lipoid Proteinosis |
|
Pustule, Thickened skin, Hyperkeratosis, Acne |
ORPHA:530 |
| Eem Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse body hair |
ORPHA:1897 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse axillary hair, Sparse pubic hair |
OMIM:146110 |
| Onychotrichodysplasia And Neutropenia |
|
Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C... |
OMIM:258360 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| Lamellar Ichthyosis |
|
Ichthyosis, Erythroderma, Pruritus, Hyperkeratosis, Chronic otitis media |
ORPHA:313 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Low posterior hairline, Absent facial hair, Sparse facial hair |
ORPHA:2183 |
| De Sanctis-Cacchione Syndrome |
|
Conjunctivitis, Parakeratosis, Hypermelanotic macule, Keratitis |
OMIM:278800 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Congenital Ichthyosiform Erythroderma |
|
Palmoplantar keratoderma, Keratitis, Ichthyosis, Erythroderma, Pruritus |
ORPHA:79394 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Orthokeratosis, Eczematoid dermatitis, Acne inversa |
OMIM:617337 |
| Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Cheilitis, Malar rash, Hyperkeratosis |
ORPHA:163525 |
| Alopecia-Intellectual Disability Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse scalp hair, Sparse body hair |
ORPHA:2850 |
| Phenylketonuria |
|
Fair hair, Eczematoid dermatitis, Scleroderma, Blue irides, Generalized hypopigmentation |
OMIM:261600 |
| Immunodeficiency 66 |
|
Pustule, Recurrent skin infections |
OMIM:618847 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Hypopigmentation of the skin, Interstitial pneumonitis, Hyp... |
ORPHA:454831 |
| Idiopathic Trachyonychia |
|
Atopic dermatitis, Vitiligo, Circumungual hyperkeratosis, Ichthyosis |
ORPHA:79153 |
| Ige Responsiveness, Atopic |
|
Allergic rhinitis, Eczematoid dermatitis |
OMIM:147050 |
| Localized Junctional Epidermolysis Bullosa |
|
Sparse pubic hair, Dystrophic toenail, Atrophic, patchy alopecia, Nail dystrophy, Sparse axillary... |
ORPHA:251393 |
| Bullous Impetigo |
|
Pustule, Septic arthritis, Recurrent bacterial skin infections |
ORPHA:36237 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis |
OMIM:136300 |
| Gand Syndrome |
|
Sparse hair |
OMIM:615074 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Long eyelashes, Thick eyebrow, Hirsutism, Low anterior hairline, Sparse hair |
OMIM:616819 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Highly arched eyebrow, Sparse lateral eyebrow, Distichiasis, Abnormal hair pattern, Sparse hair, ... |
ORPHA:1807 |
| Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Nail dystrophy, Nail dysplasia, Sparse scalp ... |
OMIM:167210 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Trichorrhexis nodosa, Woolly hair, Sparse eyebrow, Sparse hair |
OMIM:619691 |
| Pachyonychia Congenita 3 |
|
Palmoplantar keratoderma, Chapped lip, Follicular hyperkeratosis, Palmar hyperkeratosis, Plantar ... |
OMIM:615726 |
| Lymphatic Malformation 3 |
|
Recurrent skin infections |
OMIM:613480 |
| Ichthyosis With Confetti |
|
Ichthyosis, Palmoplantar hyperkeratosis, Erythroderma, Pruritus, Congenital nonbullous ichthyosif... |
OMIM:609165 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Sparse hair, Fine hair |
ORPHA:1839 |
| Ramon Syndrome |
|
Hyperkeratosis, Abnormality of retinal pigmentation |
ORPHA:3019 |
| Peeling Skin Syndrome 1 |
|
Onycholysis, Nail dystrophy, Brittle hair |
OMIM:270300 |
| Progeroid Syndrome, Petty Type |
|
Abnormal hair morphology, Thick eyebrow, Long eyelashes in irregular rows, Generalized hirsutism,... |
ORPHA:2963 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Abnormality of hair texture, Nail dysplasia, Nail dystrophy |
OMIM:601957 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair |
OMIM:273390 |
| Blepharocheilodontic Syndrome 1 |
|
High anterior hairline, Small nail, Nail dysplasia, Distichiasis, Sparse hair |
OMIM:119580 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Recurrent pneumonia, Reticular hyperpigmentation, Generalized reticulate brown pigmentation, Coli... |
OMIM:301220 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Pustule |
ORPHA:222 |
| Rodrigues Blindness |
|
Sparse hair, Fine hair |
OMIM:268320 |
| Immunodeficiency 50 |
|
Eczematoid dermatitis |
OMIM:300988 |
| Lymphoproliferative Syndrome, X-Linked, 2 |
|
Inflammation of the large intestine, Folliculitis, Hepatitis, Erythema nodosum, Colitis, Recurren... |
OMIM:300635 |
| Dracunculiasis |
|
Recurrent cutaneous abscess formation, Pruritus, Skin rash, Arthritis |
ORPHA:231 |
| Acquired Hypertrichosis Lanuginosa |
|
Generalized hirsutism, Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair |
ORPHA:2221 |
| Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections |
|
Recurrent otitis media, Atopic dermatitis, Recurrent skin infections, Cutaneous abscess |
OMIM:618944 |
| Leopard Syndrome 3 |
|
Multiple lentigines, Few cafe-au-lait spots, Hyperkeratosis, Epidermal hyperkeratosis |
OMIM:613707 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:2324 |
| Poikiloderma With Neutropenia |
|
Recurrent pneumonia, Palmoplantar keratoderma, Recurrent otitis media, Reticular hyperpigmentatio... |
OMIM:604173 |
| Keratolytic Winter Erythema |
|
Pustule |
ORPHA:50943 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent nipple, Sparse lateral eyebrow, Sparse body hair, Sparse eyelashes, Absent eyelashes, Hypo... |
OMIM:614941 |
| Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Skin rash |
OMIM:619175 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Hyperparakeratosis |
ORPHA:276280 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Orthokeratosis, Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:308050 |
| Androgen Insensitivity Syndrome |
|
Sparse axillary hair, Sparse pubic hair, Absent facial hair |
OMIM:300068 |
| Netherton Syndrome |
|
Irregular hyperpigmentation, Eczematoid dermatitis, Ichthyosis, Skin rash, Acanthosis nigricans, ... |
ORPHA:634 |
| Noonan Syndrome 8 |
|
Hyperpigmentation of the skin, Hyperkeratosis, Eczematoid dermatitis |
OMIM:615355 |
| Pressure-Induced Localized Lipoatrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90160 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Alopecia, Sparse body hair, Absent eyelashes, Absent eyebrow, Sparse scalp hair |
ORPHA:69735 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Erythroderma, Ichthyosis |
OMIM:618840 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Sparse eyebrow, Reduced hair sulfur content, Tiger tail banding, Slow-growing hair, Brittle hair,... |
OMIM:300953 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Hypergranulosis, Hyperkeratosis,... |
OMIM:242100 |
| Phoar2-Enteropathy Syndrome |
|
Thickened skin, Seborrheic dermatitis, Acne |
OMIM:614441 |
| Ifap Syndrome 2 |
|
Atrichia, Sparse hair, Nail dystrophy |
OMIM:619016 |
| Elastoderma |
|
Eczematoid dermatitis, Erysipelas |
ORPHA:228240 |
| Lelis Syndrome |
|
Yellow nails, Sparse lateral eyebrow, Nail dystrophy, Abnormal toenail morphology, Sparse hair, A... |
ORPHA:140936 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous abscess, Chronic mucocut... |
OMIM:618282 |
| Non-Acquired Isolated Growth Hormone Deficiency |
|
Sparse hair |
ORPHA:631 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia |
OMIM:608118 |
| Filippi Syndrome |
|
Frontal hirsutism, Sparse hair, Hypertrichosis |
OMIM:272440 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse eyebrow, Sparse hair |
OMIM:619989 |
| Autoimmune Disease, Susceptibility To, 1 |
|
Hashimoto thyroiditis, Vitiligo |
OMIM:607836 |
| Hermansky-Pudlak Syndrome 9 |
|
Hypopigmentation of the skin, Recurrent skin infections, Ocular albinism |
OMIM:614171 |
| Nicolaides-Baraitser Syndrome |
|
Highly arched eyebrow, Alopecia, Long eyelashes, Curly eyelashes, Abnormal hair pattern, Sparse hair |
ORPHA:3051 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
| Milroy Disease |
|
Hyperkeratosis, Erysipelas |
ORPHA:79452 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
| Pemphigus Erythematosus |
|
Acantholysis, Malar rash, Hypopigmented skin patches |
ORPHA:79480 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
| Spinocerebellar Ataxia 34 |
|
Erythroderma, Epidermal hyperkeratosis |
OMIM:133190 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616029 |
| Anauxetic Dysplasia 2 |
|
Nail dysplasia, Sparse hair, Small nail |
OMIM:617396 |
| Craniofrontonasal Dysplasia |
|
Ridged fingernail, Low posterior hairline, Abnormality of hair texture, Woolly hair, Widow's peak |
ORPHA:1520 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Sparse hair, Nail dystrophy |
OMIM:616353 |
| Mycosis Fungoides |
|
Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis |
OMIM:254400 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Iga Pemphigus |
|
Cutaneous abscess, Neutrophilic infiltration of the skin, Pustule, Acantholysis, Pruritus, Ulcera... |
ORPHA:555905 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Ichthyosis |
OMIM:614457 |
| Cranio-Osteoarthropathy |
|
Mottled pigmentation, Osteoarthritis, Eczematoid dermatitis, Arthritis |
ORPHA:1525 |
| Hypohidrotic Ectodermal Dysplasia |
|
Generalized hypopigmentation of hair, Irregular hyperpigmentation, Eczematoid dermatitis, Keratoc... |
ORPHA:238468 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteomyelitis, Skin rash, Pustule, Hyperkeratosis, Stomatitis |
OMIM:612852 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypoplastic nipples, Sparse hair, Small nail |
OMIM:273400 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Eczematoid dermatitis, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis, Se... |
ORPHA:83617 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, Hypoplastic toena... |
ORPHA:2930 |
| Weaver Syndrome |
|
Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Thin nail, Deep-set nails |
ORPHA:3447 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Erythroderma, Acantholysis, P... |
ORPHA:79481 |
| Menkes Disease |
|
Alopecia, Sparse hair, Brittle hair |
OMIM:309400 |
| Papillon-Lefèvre Syndrome |
|
Periodontitis, Palmoplantar keratoderma, Hypopigmented skin patches, Pustule, Chronic furunculosi... |
ORPHA:678 |
| Acute Generalized Exanthematous Pustulosis |
|
Pruritus, Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic dermal infiltration... |
ORPHA:293173 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Inflammatory abnormality of the skin, Pruritus, Rheumatoid arthritis |
ORPHA:79099 |
| Cardiofaciocutaneous Syndrome 4 |
|
Alopecia of scalp, Sparse eyelashes, Absent eyebrow, Curly hair, Sparse hair |
OMIM:615280 |
| Subcorneal Pustular Dermatosis |
|
Rheumatoid arthritis, Pruritus, Hyperpigmentation of the skin, Pustule |
ORPHA:48377 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Nail dystrophy, Brittle hair |
ORPHA:75389 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Horizontal eyebrow, Widow's peak, Fine hair |
OMIM:615828 |
| Acrofacial Dysostosis, Palagonia Type |
|
Sparse lateral eyebrow, Thin eyebrow, Low anterior hairline, Sparse eyelashes, Pili torti, Sparse... |
ORPHA:1787 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Onycholysis, Fine hair |
ORPHA:1028 |
| Chronic Mucocutaneous Candidiasis |
|
Cheilitis, Hepatitis, Skin rash, Pruritus, Hyperkeratosis |
ORPHA:1334 |
| 2Q32Q33 Microdeletion Syndrome |
|
Sparse hair, Fine hair |
ORPHA:251019 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Thickened skin, Seborrheic dermatitis, Acne |
OMIM:167100 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Inflammatory abnormality of the skin |
ORPHA:90159 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Generalized ichthyosis, Generalized hyperkeratosis |
ORPHA:2269 |
| Prolidase Deficiency |
|
Palmoplantar keratoderma, White forelock, Abnormality of retinal pigmentation, Crusting erythemat... |
ORPHA:742 |
| Rapp-Hodgkin Syndrome |
|
Sparse hair, Sparse eyebrow, Small nail, Decreased number of sweat glands, Supernumerary nipple, ... |
OMIM:129400 |
| Adult Syndrome |
|
Alopecia, Toenail dysplasia, Absent nipple, Fine hair, Breast hypoplasia, Fingernail dysplasia, H... |
ORPHA:978 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Long eyelashes, Fine hair, High anterior hairline |
ORPHA:231137 |
| Familial Keratoacanthoma |
|
Hyperkeratosis |
ORPHA:493 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Sparse eyebrow, Dry hair, Sparse eyelashes, Nail dysplasia, Pili torti, Brittle hair, Progressive... |
OMIM:225060 |
| Acrogeria |
|
Fine hair |
ORPHA:2500 |
| Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Ridged nai... |
OMIM:257980 |
| Even-Plus Syndrome |
|
Highly arched eyebrow, Sparse hair, Synophrys |
OMIM:616854 |
| Reynolds Syndrome |
|
Irregular hyperpigmentation, Skin rash, Infectious encephalitis, Keratoconjunctivitis sicca, Arth... |
ORPHA:779 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Slow-growing hair, Brittle hair |
OMIM:616943 |
| Cranioectodermal Dysplasia |
|
Abnormal fingernail morphology, Sparse hair, Abnormal toenail morphology |
ORPHA:1515 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1 |
|
Enterocolitis, Hyperkeratosis |
OMIM:301108 |
| C1Q Deficiency 2 |
|
Discoid lupus rash, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Bronchiectasis |
OMIM:620321 |
| Noonan Syndrome 6 |
|
Low posterior hairline, Long eyebrows, Sparse hair, Curly hair |
OMIM:613224 |
| Papa Syndrome |
|
Crohn's disease, Increased inflammatory response, Pustule, Myositis, Arthritis, Acne |
ORPHA:69126 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Sparse hair, Thick eyebrow, Synophrys |
OMIM:611091 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Hyperkeratosis, Abnormality of skin pigmentation |
ORPHA:1806 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Inflammatory abnormality of the skin, Hyperkeratosis, Ichthyosis |
OMIM:610768 |
| Shukla-Vernon Syndrome |
|
Sparse hair |
OMIM:301029 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Sparse body hair |
ORPHA:177 |
| Inflammatory Bowel Disease 25, Autosomal Recessive |
|
Perianal abscess, Folliculitis, Enterocolitis, Pancolitis |
OMIM:612567 |
| Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones |
|
Sparse axillary hair, Sparse facial hair |
OMIM:608154 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Synophrys, Coarse hair, Curly hair |
OMIM:616351 |
| Desbuquois Syndrome |
|
Abnormal eyelash morphology, Sparse hair |
ORPHA:1425 |
| Pachyonychia Congenita |
|
Palmoplantar keratoderma, Linear arrays of macular hyperkeratoses in flexural areas, Angular chei... |
ORPHA:2309 |
| Immunodeficiency 58 |
|
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis, Cutaneous abscess,... |
OMIM:618131 |
| Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Osteomyelitis, Hyperkeratosis |
ORPHA:36386 |
| Cahmr Syndrome |
|
Generalized hypertrichosis |
OMIM:211770 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Folliculitis, Palmoplantar keratoderma, Keratitis, Conjunctivitis, Blepharitis |
OMIM:612843 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Sparse lateral eyebrow, Fine hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
ORPHA:3353 |
| Trichothiodystrophy 1, Photosensitive |
|
Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Trichoschisis, P... |
OMIM:601675 |
| Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Erythroderma |
OMIM:609180 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Arthritis, Colitis, Sterile arthritis, Cystic acne, Acne |
OMIM:604416 |
| Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
|
Recurrent aphthous stomatitis, Vitiligo, Skin rash, Otitis media, Hashimoto thyroiditis, Juvenile... |
ORPHA:275 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Highly arched eyebrow, Alopecia, Sparse lateral eyebrow, Dystrophic toenail, Nail dystrophy, Dyst... |
ORPHA:3253 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Abnormal hair whorl, Sparse hair |
ORPHA:2872 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Punctate keratitis, Keratoconjunctivitis sicca, Palmoplantar hyperkeratosis, Follicular hyperkera... |
OMIM:617388 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Generalized hypotrichosis, Sparse eyebrow, Absent hair, Trichorrhexis nodosa, Ridged nail, Nail d... |
ORPHA:1010 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Synophrys, Sparse eyebrow, Sparse hair, Curly hair |
OMIM:620075 |
| Hatipoglu Immunodeficiency Syndrome |
|
Hyperpigmented/hypopigmented macules, Thickened skin, Atopic dermatitis, Fair hair, Eczematoid de... |
OMIM:620331 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis |
ORPHA:79279 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Abnormal hair morphology, Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3082 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis |
OMIM:615279 |
| Mucopolysaccharidosis, Type Iiib |
|
Hirsutism, Coarse hair, Synophrys |
OMIM:252920 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis |
OMIM:617066 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Multiple rows of eyelashes, Facial hirsutism, Thick eyebrow, Curly eyelashes, Low posterior hairl... |
ORPHA:163654 |
| Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
| Wiskott-Aldrich Syndrome 2 |
|
Eczematoid dermatitis |
OMIM:614493 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair |
OMIM:118650 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyebrow, Nail dystrophy, Sparse eyelashes, Woolly hair |
OMIM:605676 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Fine hair |
ORPHA:3236 |
| Kid Syndrome |
|
Posterior blepharitis, Palmoplantar keratoderma, Congenital ichthyosiform erythroderma, Folliculi... |
ORPHA:477 |
| Sulfite Oxidase Deficiency, Isolated |
|
Fine hair |
OMIM:272300 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Sparse body hair |
OMIM:300869 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Sparse hair, Sparse lateral eyebrow, Fine hair |
OMIM:190351 |
| Reactive Arthritis |
|
Inflammation of the large intestine, Osteomyelitis, Recurrent aphthous stomatitis, Pustule, Arthr... |
ORPHA:29207 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyelashes, Alopecia, Sparse hair, Absent eyebrow |
ORPHA:2316 |
| Mucopolysaccharidosis, Type Iiic |
|
Hirsutism, Hypertrichosis, Coarse hair, Synophrys |
OMIM:252930 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Sparse eyebrow, Sparse hair, Sparse eyelashes |
OMIM:224900 |
| Mucopolysaccharidosis, Type Iiia |
|
Hirsutism, Coarse hair, Synophrys |
OMIM:252900 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Sparse hair, Fine hair |
OMIM:616817 |
| Jaberi-Elahi Syndrome |
|
Sparse eyebrow, Fine hair, Sparse eyelashes, Brittle hair, Sparse hair |
OMIM:617988 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Low posterior hairline, Thin eyebrow, Sparse hair, Synophrys |
OMIM:619320 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Keratitis, Ichthyosis, Keratoconjunctivitis sicca, Hyperkeratosis, Recurrent bacterial skin infec... |
OMIM:148210 |
| Braddock-Carey Syndrome 1 |
|
Sparse hair, Curly hair |
OMIM:619980 |
| Leopard Syndrome 2 |
|
Curly hair |
OMIM:611554 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Hirsutism |
OMIM:618087 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Highly arched eyebrow, Long eyelashes, Thick eyebrow, Brittle hair, Synophrys |
OMIM:617412 |
| Lymphatic Malformation 12 |
|
Hyperkeratosis |
OMIM:620014 |
| Distal Duplication 6P |
|
Abnormal eyelash morphology, Fine hair, Abnormal hair quantity |
ORPHA:1745 |
| Fixed Drug Eruption |
|
Crusting erythematous dermatitis, Hyperpigmentation of the skin, Stomatitis |
ORPHA:293812 |
| Juvenile Arthritis |
|
Skin rash |
OMIM:618795 |
| Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:28378 |
| Incontinentia Pigmenti |
|
Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Ridged... |
OMIM:308300 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair |
OMIM:616559 |
| 19Q13.11 Microdeletion Syndrome |
|
Sparse lateral eyebrow, Fine hair, Supernumerary nipple, Sparse or absent eyelashes, Nail dysplas... |
ORPHA:217346 |
| Tetrasomy 12P |
|
Sparse eyebrow, Sparse hair |
ORPHA:884 |
| Familial Cold Autoinflammatory Syndrome 2 |
|
Recurrent aphthous stomatitis, Arthritis, Skin rash, Erythema nodosum |
OMIM:611762 |
| Hall-Riggs Syndrome |
|
Coarse hair, Thick hair, Slow-growing hair |
ORPHA:2107 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Recurrent pneumonia, Recurrent sinusitis, Recurrent skin infections, Bronchie... |
OMIM:616576 |
| Donohue Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Hypermelanotic macule |
OMIM:246200 |
| Yao Syndrome |
|
Uveitis, Inflammatory abnormality of the skin, Skin rash, Keratoconjunctivitis sicca, Arthritis, ... |
OMIM:617321 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair |
OMIM:610756 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Sparse hair, Fragile nails |
OMIM:242150 |
| 46,Xy Sex Reversal 6 |
|
Sparse axillary hair, Hirsutism |
OMIM:613762 |
| Fanconi Anemia, Complementation Group S |
|
Long eyelashes, Sparse hair, Low anterior hairline |
OMIM:617883 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Synophrys, Sparse hair, Fine hair, Low anterior hairline |
ORPHA:391408 |
| Muckle-Wells Syndrome |
|
Recurrent aphthous stomatitis, Episcleritis, Skin rash, Ichthyosis, Arthritis, Conjunctivitis, Uv... |
ORPHA:575 |
| Immunodeficiency 57 With Autoinflammation |
|
Inflammation of the large intestine, Skin rash, Perianal abscess, Gastritis, Bronchiectasis |
OMIM:618108 |
| Xp22.13P22.2 Duplication Syndrome |
|
High anterior hairline, Sparse hair |
ORPHA:284180 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
High anterior hairline, Dry hair, Coarse hair, Nail dystrophy, Woolly scalp hair, Onycholysis, Sp... |
OMIM:620519 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Coarse hair, Chronic monilial nail infection, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158310 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Sparse hair |
OMIM:620001 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Recurrent pneumonia, Chronic mucocutaneous candidiasis, Molluscum contagiosum, Disseminated mollu... |
OMIM:614868 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyebrow, Leukonychia, Sparse eyelashes, Sparse hair, Fragile nails |
ORPHA:77258 |
| Autosomal Agammaglobulinemia |
|
Bronchiectasis, Hepatitis, Osteomyelitis, Skin rash, Arthritis, Sinusitis, Conjunctivitis, Recurr... |
ORPHA:33110 |
| Hermansky-Pudlak Syndrome |
|
Iris hypopigmentation, Thickened skin, Hypopigmentation of the skin, Ocular albinism, Partial alb... |
ORPHA:79430 |
| Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Eosinophilic infiltration of the esophagus, Recurrent skin infections |
OMIM:620532 |
| X-Linked Agammaglobulinemia |
|
Recurrent pneumonia, Hypopigmented skin patches, Hepatitis, Osteomyelitis, Skin rash, Recurrent c... |
ORPHA:47 |
| Tonne-Kalscheuer Syndrome |
|
Small nail, Fine hair, Concave nail |
OMIM:300978 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:324964 |
| Retinitis Pigmentosa, Deafness, Impaired Intellectual Development, And Hypogonadism |
|
Sparse hair |
OMIM:268020 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Nail dystrophy, Brittle hair |
ORPHA:93947 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
| Meige Disease |
|
Cobblestone-like hyperkeratosis, Recurrent skin infections, Recurrent bacterial skin infections |
ORPHA:90186 |
| Mycetoma |
|
Osteomyelitis, Cobblestone-like hyperkeratosis, Recurrent bacterial skin infections |
ORPHA:2583 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal fingernail morphology, Alopecia, Sparse hair |
ORPHA:659 |
| Noonan Syndrome 5 |
|
Sparse eyebrow, Small nail, Fine hair, Curly hair |
OMIM:611553 |
| Auriculocondylar Syndrome 2B |
|
Sparse hair, Synophrys |
OMIM:620458 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Sparse body hair |
ORPHA:2234 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Abnormality of hair texture, Coarse hair, Brittle hair |
OMIM:219200 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Recurrent otitis media, Recurrent pneumonia, Inflammatory abnormality of the skin, Sinusitis |
ORPHA:277 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Follicular hyperkeratosis |
ORPHA:486815 |
| Costello Syndrome |
|
Generalized hyperpigmentation, Acanthosis nigricans, Hyperkeratosis |
ORPHA:3071 |
| Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections |
|
Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce... |
OMIM:243700 |
| Tooth Agenesis, Selective, 4 |
|
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Dystrophic fingernails, ... |
OMIM:150400 |
| Kindler Epidermolysis Bullosa |
|
Cheilitis, Inflammation of the large intestine, Periodontitis, Palmoplantar keratoderma, Esophagi... |
ORPHA:2908 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Hirsutism, Low anterior hairline, Broad eyebrow, Woolly hair |
OMIM:619244 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Patchy alopecia, Sparse hair |
OMIM:617763 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Sparse eyebrow, Absent nipple, Fine hair, Sparse body hair, Concave nail, Sparse eyelashes, Absen... |
OMIM:305100 |
| Majeed Syndrome |
|
Osteomyelitis, Inflammatory abnormality of the skin, Skin rash |
OMIM:609628 |
| Rat-Bite Fever |
|
Lymphadenitis, Parotitis, Morbilliform rash, Skin rash, Pustule, Myocarditis, Oligoarthritis, Pan... |
ORPHA:31205 |
| Naxos Disease |
|
Subungual hyperkeratosis, Sparse eyebrow, Sparse body hair, Nail dystrophy, Onycholysis, Curly ha... |
OMIM:601214 |
| Protoporphyria, Erythropoietic, 1 |
|
Pruritus, Eczematoid dermatitis |
OMIM:177000 |
| Hartnup Disease |
|
Skin rash, Irregular hyperpigmentation, Hypopigmented skin patches, Infectious encephalitis |
ORPHA:2116 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Crusting erythematous dermatitis, Palmoplantar hyperkeratosis |
ORPHA:158673 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Sparse eyebrow, Coarse hair, Dystrophic toenail, Supernumerary nipple, Hyperconvex fingernails, S... |
ORPHA:1071 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Scarring alopecia of scalp, Abnor... |
ORPHA:35173 |
| Cutaneous Collagenous Vasculopathy |
|
Pruritus, Skin rash |
ORPHA:280779 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Hyperconvex nail |
OMIM:619721 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Fair hair, Fine hair, Sparse eyelashes, Sparse facial hair, Sparse hair |
OMIM:250250 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Sparse hair, Nail dystrophy |
ORPHA:98813 |
| Incontinentia Pigmenti |
|
Irregular hyperpigmentation, Keratitis, Hypopigmented skin patches, Skin rash, Infectious encepha... |
ORPHA:464 |
| Lymphatic Filariasis |
|
Lymphadenitis, Orchitis, Knee osteoarthritis, Hyperpigmentation of the skin, Glomerulonephritis, ... |
ORPHA:2035 |
| Joubert Syndrome 37 |
|
Sparse hair |
OMIM:619185 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair |
ORPHA:228390 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair |
OMIM:618253 |
| Fetal Hydantoin Syndrome |
|
Low posterior hairline, Coarse hair, Hypoplastic fingernail |
ORPHA:1912 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Fine hair, Synophrys |
OMIM:619428 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Atopic dermatitis, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Cutaneous abscess, Rec... |
OMIM:619752 |
| Chromosome 5P13 Duplication Syndrome |
|
Low posterior hairline, Sparse hair |
OMIM:613174 |
| Sialidosis Type 1 |
|
Hyperkeratosis |
ORPHA:812 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Hyperkeratosis |
OMIM:614576 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Sparse hair |
OMIM:614105 |
| Ruijs-Aalfs Syndrome |
|
Sparse hair, Premature graying of hair |
OMIM:616200 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Eczematoid dermatitis, Multiple lentigines, Ichthyosis, Hyperpigmentation of the skin, Hyperkerat... |
OMIM:607721 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Membranoproliferative glomerulonephritis, Freckling, Epidermal hyperkeratosis |
OMIM:137940 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis |
ORPHA:163966 |
| Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency |
|
Allergic rhinitis, Pneumonia, Recurrent pneumonia, Rheumatoid arthritis, Bronchiectasis, Atopic d... |
ORPHA:183675 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Sparse hair, Thick eyebrow |
ORPHA:127 |
| Garg-Mishra Progeroid Syndrome |
|
Sparse hair, Small nail |
OMIM:620601 |
| Periodic Fever, Familial, Autosomal Dominant |
|
Erysipelas, Skin rash, Myositis, Oligoarthritis, Conjunctivitis, Maculopapular exanthema |
OMIM:142680 |
| Bullous Pemphigoid |
|
Pruritus, Psoriasiform dermatitis, Eczematoid dermatitis |
ORPHA:703 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Nail dysplasia, Sparse hair, Fine hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:614091 |
| Autosomal Erythropoietic Protoporphyria |
|
Pruritus, Eczematoid dermatitis |
ORPHA:79278 |
| Neutropenia, Severe Congenital, X-Linked |
|
Eczematoid dermatitis |
OMIM:300299 |
| Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Atopic dermatitis, Eczematoid... |
ORPHA:436159 |
| Estrogen Resistance |
|
Acanthosis nigricans, Acne |
OMIM:615363 |
| Trichothiodystrophy 3, Photosensitive |
|
Trichorrhexis nodosa, Tiger tail banding, Brittle hair |
OMIM:616395 |
| Sapho Syndrome |
|
Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Skin rash, Palmoplan... |
ORPHA:793 |
| Revesz Syndrome |
|
Ridged fingernail, Fine hair, Nail dystrophy, Sparse hair, Nail pits |
OMIM:268130 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Generalized hirsutism, Coarse hair, Low anterior hairline |
ORPHA:2095 |
| Frontonasal Dysplasia 2 |
|
Sparse eyebrow, Fine hair, Alopecia totalis, Sparse eyelashes, Sparse hair |
OMIM:613451 |
| Vexas Syndrome |
|
Arteritis, Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Nasal cho... |
OMIM:301054 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Skin rash, Myositis, Acanthosis nigricans, Arthritis, Sinusitis, Conjunctivitis, Panniculitis |
OMIM:617591 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Hepatitis, Interstitial pneumonitis, Skin rash, Infectious encephalitis, Pustule, Erythroderma, M... |
ORPHA:139402 |
| Trichorhinophalangeal Syndrome, Type I |
|
Sparse lateral eyebrow, Fine hair, Thin eyebrow, Leukonychia, Concave nail, Slow-growing hair, Th... |
OMIM:190350 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Recurrent pneumonia, Palmoplantar keratoderma, Chapped lip, Recurrent skin infections, Follicular... |
ORPHA:158668 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Hyperkeratotic papule, Orthokeratosis, Palmoplantar keratoderma, Hypergranulosis, Palmoplantar hy... |
ORPHA:79501 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Sparse hair, Abnormal toenail morphology |
ORPHA:1005 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Recurren... |
OMIM:614700 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Sparse hair, Brittle hair |
OMIM:608612 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Alopecia, Premature graying of hair, Ridged nail, Nail dystrophy, Sparse hair, Nail pits |
OMIM:127550 |
| Xeroderma Pigmentosum |
|
Thickened skin, Keratitis, Hypopigmented skin patches, Melanocytic nevus, Freckling, Hypermelanot... |
ORPHA:910 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Erythroderma, Blepharitis |
OMIM:614328 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyebrow, High anterior hairline, Small nail, Sparse eyelashes, Sparse hair |
OMIM:250410 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Coarse hair |
ORPHA:1185 |
| Immunodeficiency 55 |
|
Eczematoid dermatitis, Recurrent skin infections, Ichthyosis |
OMIM:617827 |
| Majeed Syndrome |
|
Inflammatory abnormality of the skin, Osteomyelitis, Synovitis, Pustule, Abnormal inflammatory re... |
ORPHA:77297 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Long eyelashes, Fine hair, Synophrys |
OMIM:620250 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair |
OMIM:219150 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Aplasia of the eccrine sweat glands |
OMIM:300291 |
| Cardiofaciocutaneous Syndrome 1 |
|
Atopic dermatitis, Multiple lentigines, Ichthyosis, Hyperpigmentation of the skin, Hyperkeratosis |
OMIM:115150 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Brittle hair |
OMIM:618810 |
| Aredyld Syndrome |
|
Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:1133 |
| Noonan Syndrome 14 |
|
Low posterior hairline, Sparse eyebrow, Sparse hair, Curly hair |
OMIM:619745 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly |
OMIM:610644 |
| Systemic-Onset Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Skin rash, Arthritis, Juvenile rheumatoid arthritis, Pericarditis |
ORPHA:85414 |
| Bone Marrow Failure Syndrome 3 |
|
Hyperkeratosis, Eczematoid dermatitis, Hypomelanotic macule |
OMIM:617052 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Sparse hair, Periungual erythema, Nail dystrophy |
OMIM:615934 |
| Cardiofaciocutaneous Syndrome |
|
Palmoplantar keratoderma, Multiple lentigines, Generalized hyperpigmentation, Ichthyosis, Multipl... |
ORPHA:1340 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
ORPHA:50814 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Psoriasiform dermatitis, Eczematoid dermatitis |
OMIM:617443 |
| Intellectual Disability, Buenos-Aires Type |
|
Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair |
ORPHA:3079 |
| Agammaglobulinemia 9, Autosomal Recessive |
|
Seborrheic dermatitis, Eczematoid dermatitis |
OMIM:619693 |
| Werner Syndrome |
|
Abnormality of retinal pigmentation, Hyperkeratosis, White forelock, Premature graying of hair |
ORPHA:902 |
| Mandibuloacral Dysplasia |
|
Alopecia, Sparse hair, Hypoplastic fingernail |
ORPHA:2457 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
| Graft Versus Host Disease |
|
Pneumonia, Inflammatory abnormality of the skin, Fasciitis, Acute hepatitis, Chronic hepatitis, M... |
ORPHA:39812 |
| Cerebrofaciothoracic Dysplasia |
|
Coarse hair, Thick eyebrow, Low posterior hairline, Abnormal hair pattern, Synophrys |
ORPHA:1394 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Nail dysplasia, Sparse eyebrow, Sparse hair, Sparse eyelashes |
OMIM:613026 |
| Scarf Syndrome |
|
Low posterior hairline, Hypoplastic nipples, Sparse hair |
ORPHA:3134 |
| Adams-Oliver Syndrome |
|
Alopecia, Hypoplastic fingernail, Aplastic/hypoplastic toenail, Sparse hair, Absent fingernail |
ORPHA:974 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Supernumerary nipple, Sparse body hair, Nail dystrophy, Sparse eyelashes, Absent eyelashes, Patch... |
OMIM:106260 |
| Osteogenesis Imperfecta, Type Xx |
|
Highly arched eyebrow, Sparse hair, Sparse lateral eyebrow |
OMIM:618644 |
| Short Syndrome |
|
Alopecia, Sparse hair |
ORPHA:3163 |
| Cranioectodermal Dysplasia 3 |
|
Short nail, Sparse hair, Fine hair, Broad nail |
OMIM:614099 |
| Noonan Syndrome 10 |
|
Hyperpigmentation of the skin, Hyperkeratosis, Cafe-au-lait spot |
OMIM:616564 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Fine hair |
OMIM:614438 |
| Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Abnormality of hair texture, Sparse... |
ORPHA:2108 |
| Centrifugal Lipodystrophy |
|
Inflammatory abnormality of the skin, Lymphadenitis |
ORPHA:90156 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Sparse hair, Fine hair, Sparse eyelashes |
OMIM:257850 |
| Noonan Syndrome 7 |
|
Low posterior hairline, Curly hair |
OMIM:613706 |
| Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Atrophic gastritis, Eczematoid dermatitis, Psoriasiform dermatitis, Crohn's disease, Arthritis, B... |
OMIM:616100 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Fine hair |
ORPHA:363686 |
| Chops Syndrome |
|
Coarse hair, Long eyelashes, Thick eyebrow, Thick hair, Curly hair, Synophrys |
OMIM:616368 |
| Smith-Kingsmore Syndrome |
|
Curly hair |
OMIM:616638 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Pneumonia, Inflammatory abnormality of the skin, Eczematoid dermatitis, Hepatitis, Osteomyelitis,... |
ORPHA:37042 |
| Macs Syndrome |
|
Alopecia, Sparse hair, Sparse eyebrow |
OMIM:613075 |
| Oculodentodigital Dysplasia |
|
Fine hair, Abnormal fingernail morphology, Curly hair, Slow-growing hair, Brittle hair, Sparse ha... |
ORPHA:2710 |
| ERI1-related disease |
|
Sparse hair, Anonychia, Low anterior hairline |
OMIM:608739 |
| Bainbridge-Ropers Syndrome |
|
Highly arched eyebrow, Supernumerary nipple, Thin eyebrow, Long eyelashes, Thick eyebrow, Hirsuti... |
OMIM:615485 |
| Trichohepatoenteric Syndrome 1 |
|
Sparse hair, Fine hair, Trichorrhexis nodosa, Curly hair, Brittle hair, Woolly hair |
OMIM:222470 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Sparse hair, Thick hair, Coarse hair |
ORPHA:357074 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Coarse hair, Long eyelashes, Low anterior hairline, Low posterior hairline, Hirsutism, Synophrys |
OMIM:617303 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin |
ORPHA:542592 |
| Immunodeficiency 68 |
|
Septic arthritis, Recurrent skin infections, Lymphadenitis |
OMIM:612260 |
| Nablus Mask-Like Facial Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Frontal upsweep of hair, Sparse eyelashes, Absent eyelashe... |
OMIM:608156 |
| Gaucher Disease, Perinatal Lethal |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Ichthyosis |
OMIM:608013 |
| Ogden Syndrome |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:276432 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Alopecia, Sparse eyebrow, Premature graying of hair, Nail dystrophy, Sparse eyelashes, Absent eye... |
OMIM:268400 |
| Scarf Syndrome |
|
Low posterior hairline, Hypoplastic nipples, Sparse hair, Low anterior hairline |
OMIM:312830 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Seborrheic dermatitis, Palmoplantar hyperkeratosis, Eczematoid dermatitis, Arthritis |
OMIM:259100 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Patchy alopecia, Sparse eyebrow, Sparse hair, Sparse eyelashes |
OMIM:302960 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of hair texture |
ORPHA:88618 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:612199 |
| Multiple Sulfatase Deficiency |
|
Coarse hair, Thick eyebrow |
ORPHA:585 |
| Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Hypopigmentation of hair |
ORPHA:96169 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Sparse body hair |
ORPHA:3068 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Low posterior hairline, Highly arched eyebrow, Thick eyebrow, Curly hair |
OMIM:617360 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair |
OMIM:300986 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Long eyelashes, Sparse hair, Thick eyebrow, Hirsutism |
OMIM:212066 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Alopecia universalis, Premature graying of hair, Absent eyelashes, Absent eyebrow, Sparse hair |
ORPHA:363618 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Highly arched eyebrow, High anterior hairline, Coarse hair, Sparse lateral eyebrow, Low posterior... |
OMIM:617506 |
| Noonan Syndrome 4 |
|
Sparse eyebrow, High anterior hairline, Curly hair |
OMIM:610733 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Follicular hyperkeratosis |
OMIM:254090 |
| Bethlem Muscular Dystrophy |
|
Hyperkeratosis |
ORPHA:610 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Fine hair, Brittle hair |
OMIM:618891 |
| Ramon Syndrome |
|
Juvenile rheumatoid arthritis, Pigmentary retinopathy, Hyperkeratosis |
OMIM:266270 |
| Chronic Granulomatous Disease |
|
Eczematoid dermatitis, Otitis media, Sinusitis, Inflammatory abnormality of the eye, Hypermelanot... |
ORPHA:379 |
| Hamamy Syndrome |
|
Sparse eyebrow, Sparse lateral eyebrow, Abnormal number of hair whorls, Sparse eyelashes, Low pos... |
OMIM:611174 |
| Acrofacial Dysostosis, Catania Type |
|
Abnormal hair pattern, Coarse hair |
ORPHA:1786 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Curly hair |
ORPHA:457485 |
| Complement Factor I Deficiency |
|
Recurrent otitis media, Pyelonephritis, Recurrent sinusitis, Glomerulonephritis, Septic arthritis... |
OMIM:610984 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia |
OMIM:613990 |
| Marshall Syndrome |
|
Sparse eyebrow, Sparse hair, Sparse eyelashes |
ORPHA:560 |
| Gapo Syndrome |
|
Alopecia, Sparse eyebrow, Breast hypoplasia, Sparse eyelashes, Nail dysplasia, Hypoplastic nipple... |
OMIM:230740 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Thick eyebrow, Fine hair |
OMIM:614800 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Uveitis, Sacroiliac arthritis, Psoriasiform dermatitis, Malar rash, Skin rash, Oligoarthritis, Ir... |
ORPHA:85436 |
| Macrocephaly/Autism Syndrome |
|
Coarse hair |
OMIM:605309 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair |
OMIM:619435 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypopigmentation of the skin, Palmoplantar keratoderma, Recurrent skin infections, Generalized re... |
ORPHA:79396 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplastic/hypoplastic toenail, Aplasia/Hypoplasia of the eyebrow, Fine hair, Supernumerary nipple |
ORPHA:1812 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Brittle hair |
OMIM:236200 |
| Oculodentodigital Dysplasia |
|
Dry hair, Fine hair, Slow-growing hair, Sparse hair, Fragile nails |
OMIM:164200 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Aplasia of the sweat glands, Sparse hair, Sparse scalp hair |
OMIM:612132 |
| Trisomy 20P |
|
Highly arched eyebrow, Coarse hair, Thick eyebrow, Low anterior hairline, Low posterior hairline,... |
ORPHA:261318 |
| Hyperzincemia With Functional Zinc Depletion |
|
Skin rash |
OMIM:601979 |
| Hereditary Acrokeratotic Poikiloderma |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Eczematoid dermatitis, Ichthyosis, Pustu... |
ORPHA:2907 |
| Argininosuccinic Aciduria |
|
Trichorrhexis nodosa, Dry hair, Brittle hair |
OMIM:207900 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair |
ORPHA:85184 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Sparse pubic hair, Alopecia, Sparse eyebrow, Abnormal eyebrow morphology, Breast hypoplasia, Alop... |
ORPHA:2232 |
| Dyskeratosis Congenita |
|
Alopecia, White hair, Premature graying of hair, Abnormal fingernail morphology, Abnormal eyebrow... |
ORPHA:1775 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse hair |
OMIM:616449 |
| Craniolenticulosutural Dysplasia |
|
Sparse hair, Coarse hair, Brittle hair |
OMIM:607812 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis |
OMIM:620189 |
| Diamond-Blackfan Anemia 21 |
|
Coarse hair, Horizontal eyebrow, Widow's peak, Synophrys |
OMIM:620072 |
| Glass Syndrome |
|
Nail dysplasia, Long eyelashes, Sparse hair |
OMIM:612313 |
| Weaver Syndrome |
|
Fine hair, Sparse hair, Thin nail, Deep-set nails |
OMIM:277590 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Sparse hair, Fine hair |
ORPHA:251028 |
| Premature Aging Syndrome, Penttinen Type |
|
Thickened skin, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:601812 |
| Eec Syndrome |
|
Keratitis, Generalized hypopigmentation, Inflammatory abnormality of the eye, Hyperkeratosis, Ble... |
ORPHA:1896 |
| Goldberg-Shprintzen Syndrome |
|
Highly arched eyebrow, Sparse hair, Thick eyebrow, Synophrys |
OMIM:609460 |
| Nicolaides-Baraitser Syndrome |
|
Dry hair, Sparse medial eyebrow, Hypertrichosis, Long eyelashes, Low anterior hairline, Low poste... |
OMIM:601358 |
| Hallermann-Streiff Syndrome |
|
Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
OMIM:234100 |
| Teebi-Shaltout Syndrome |
|
Highly arched eyebrow, Sparse hair, Slow-growing hair, Low anterior hairline |
OMIM:272950 |
| Uremic Pruritus |
|
Pruritus, Inflammatory abnormality of the skin, Recurrent skin infections |
ORPHA:94059 |
| Fucosidosis |
|
Generalized hyperkeratosis |
ORPHA:349 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Uveitis, Erysipelas, Fasciitis, Skin rash, Orchitis, Myositis, Peritonitis, Arthritis, Conjunctiv... |
ORPHA:32960 |
| Ablepharon Macrostomia Syndrome |
|
Fine hair, Breast hypoplasia, Absent eyelashes, Abnormal hair pattern, Absent eyebrow, Sparse hair |
ORPHA:920 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Pyoderma, Recurrent pneumonia, Bronchiectasis, Eczematoid dermatitis |
OMIM:242700 |
| Noonan Syndrome 2 |
|
Melanocytic nevus, Hyperpigmentation of the skin, Hypermelanotic macule, Hyperkeratosis, Cafe-au-... |
OMIM:605275 |
| Schimke Immunoosseous Dysplasia |
|
Coarse hair, Fine hair |
OMIM:242900 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Low anterior hairline |
OMIM:618569 |
| Trichohepatoneurodevelopmental Syndrome |
|
Thoracic hypertrichosis, Coarse hair, Long eyelashes, Hypoplastic nipples, Curly hair, Woolly hai... |
OMIM:618268 |
| Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Fair hair |
OMIM:610443 |
| Trichothiodystrophy |
|
Aplasia/Hypoplasia of the nails, Ridged nail, Tiger tail banding, Alopecia of scalp, Concave nail... |
ORPHA:33364 |
| Genitopatellar Syndrome |
|
Sparse scalp hair, Fine hair |
ORPHA:85201 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture |
ORPHA:79351 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hypopigmentation of the skin, Fair hair, Eczematoid dermatitis, Recurrent otitis media, Vitiligo,... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hypopigmentation of the skin, Fair hair, Eczematoid dermatitis, Recurrent otitis media, Vitiligo,... |
ORPHA:363958 |
| Craniofrontonasal Syndrome |
|
Breast hypoplasia, Ridged nail, Low posterior hairline, Unilateral breast hypoplasia, Curly hair,... |
OMIM:304110 |
| Scalp-Ear-Nipple Syndrome |
|
Sparse pubic hair, Fine hair, Breast aplasia, Nail dysplasia, Patchy alopecia, Sparse axillary ha... |
OMIM:181270 |
| B4Galt1-Cdg |
|
Inflammatory abnormality of the skin |
ORPHA:79332 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Breast hypoplasia, Sparse hair, Small nail, Nail dysplasia |
OMIM:614813 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Sparse hair, Fine hair |
OMIM:241080 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair |
OMIM:615349 |
| Mucopolysaccharidosis, Type Iiid |
|
Coarse hair, Facial hirsutism, Thick eyebrow, Hirsutism, Synophrys |
OMIM:252940 |
| Cerebellar-Facial-Dental Syndrome |
|
Sparse eyebrow, Sparse hair, Fine hair |
ORPHA:444072 |
| Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Cheilitis |
ORPHA:2483 |
| Agel Amyloidosis |
|
Sparse hair, Nail dystrophy |
ORPHA:85448 |
| White-Sutton Syndrome |
|
Sparse hair |
OMIM:616364 |
| Bcard Syndrome |
|
Nail dysplasia, Coarse hair |
OMIM:612394 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Recurrent pneumonia, Skin rash, Acute otitis media, Pustule, Hyperpigmentation of the skin, Chron... |
ORPHA:35078 |
| 2P15P16.1 Microdeletion Syndrome |
|
Long eyelashes, Sparse eyebrow, Fine hair, Supernumerary nipple |
ORPHA:261349 |
| Blau Syndrome |
|
Uveitis, Nongranulomatous uveitis, Eczematoid dermatitis, Synovitis, Arthritis, Erythema nodosum,... |
OMIM:186580 |
| Rothmund-Thomson Syndrome |
|
Sparse eyebrow, Small nail, Alopecia totalis, Sparse eyelashes, Nail dysplasia, Sparse hair, Abno... |
ORPHA:2909 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair |
OMIM:619184 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Hypopigmentation of hair, Dry hair, Widow's peak, Coarse hair |
ORPHA:1974 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sparse hair, Hirsutism, Toenail dysplasia, Synophrys |
OMIM:300966 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis |
OMIM:615510 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Sparse hair, Absent eyebrow, Nail dystrophy, Alopecia of scalp |
ORPHA:436252 |
| Opitz-Kaveggia Syndrome |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:305450 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sparse hair |
OMIM:616541 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Low posterior hairline, Highly arched eyebrow, Sparse hair, Fine hair |
OMIM:613563 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Hyperkeratosis |
OMIM:601701 |
| Blau Syndrome |
|
Posterior uveitis, Keratitis, Ichthyosis, Skin rash, Synovitis, Iridocyclitis, Hyperpigmentation ... |
ORPHA:90340 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse pubic hair, Sparse eyebrow, Fair hair, Sparse eyelashes, Nail dysplasia, Hypoplastic nippl... |
OMIM:129900 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Thickened skin, Orthokeratotic hyperkeratosis, Epidermal thickening, Abnormality of dermal melano... |
ORPHA:73223 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis |
ORPHA:79280 |
| Mucopolysaccharidosis, Type Vii |
|
Coarse hair, Thick eyebrow, Hirsutism |
OMIM:253220 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair |
OMIM:614114 |
| Behcet Syndrome |
|
Iridocyclitis, Erythema nodosum, Arthritis, Epididymitis, Iritis |
OMIM:109650 |
| Syndromic Diarrhea |
|
Trichorrhexis nodosa, Uncombable hair, Brittle hair, Hypopigmentation of hair, Woolly hair |
ORPHA:84064 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Fine hair |
OMIM:616202 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Rec... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Rec... |
OMIM:233710 |
| Marshall-Smith Syndrome |
|
Highly arched eyebrow, Hypertrichosis, Thick eyebrow, Brittle hair, Sparse hair, Synophrys |
OMIM:602535 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Fine hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2637 |
| Malakoplakia |
|
Inflammatory abnormality of the skin, Urinary bladder inflammation, Skin rash, Orchitis, Pruritus |
ORPHA:556 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse eyebrow, Fine hair, Nail dystrophy, Sparse eyelashes, Onycholysis, Sparse scalp hair |
OMIM:614748 |
| Monosomy 22 |
|
Sparse hair, Synophrys |
ORPHA:96123 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Rec... |
OMIM:233690 |
| Scalp-Ear-Nipple Syndrome |
|
Breast aplasia, Abnormal fingernail morphology, Sparse hair |
ORPHA:2036 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Blepharitis, Chapped lip, Psoriasiform dermatitis, Pustule, Recurrent bacterial skin infections |
ORPHA:294023 |
| Orofaciodigital Syndrome Type 1 |
|
Alopecia, Sparse hair, Coarse hair, Brittle hair |
ORPHA:2750 |
| Kaufman Oculocerebrofacial Syndrome |
|
Sparse eyebrow, Sparse hair |
OMIM:244450 |
| Lateral Meningocele Syndrome |
|
Coarse hair |
OMIM:130720 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Keratitis, Eczematoid dermatitis, Episcleritis, Ichthyosis, Scleritis, Conjunctivitis, Cheilitis,... |
ORPHA:2273 |
| Dubowitz Syndrome |
|
Sparse lateral eyebrow, Fine hair, Abnormal fingernail morphology, Hypoplastic toenails, Low ante... |
ORPHA:235 |
| Orofaciodigital Syndrome I |
|
Sparse hair, Alopecia, Dry hair |
OMIM:311200 |
| Cowden Syndrome |
|
Palmoplantar keratoderma, Hypopigmented skin patches, Generalized hyperkeratosis, Melanocytic nev... |
ORPHA:201 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Fair hair, Blue irides, Generalized hypopigmentation, Hyperkeratosis, Blepharitis |
OMIM:604292 |
| Lysinuric Protein Intolerance |
|
Sparse hair, Fine hair |
OMIM:222700 |
| Mucolipidosis Ii Alpha/Beta |
|
Sparse eyebrow, Sparse hair, Brittle hair |
OMIM:252500 |
| Menkes Disease |
|
Woolly hair, Hypopigmentation of hair, Sparse hair |
ORPHA:565 |
| Cranioectodermal Dysplasia 1 |
|
Short nail, Fine hair, Slow-growing hair, Thin nail, Sparse hair |
OMIM:218330 |
| Rothmund-Thomson Syndrome Type 1 |
|
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:221008 |
| Reynolds Syndrome |
|
Pruritus, Sclerodactyly, Erythema nodosum, Scleroderma |
OMIM:613471 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Sparse hair, Thin nail |
OMIM:617799 |
| De Barsy Syndrome |
|
Sparse hair |
ORPHA:2962 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Breast hypoplasia, Sparse body hair |
ORPHA:432 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Pneumonia, Recurrent pneumonia, Inflammatory abnormality of the skin, Chronic mucocutaneous candi... |
OMIM:102700 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Keratitis, Eczematoid dermatitis, Follicular h... |
OMIM:308205 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair |
OMIM:300661 |
| Adrenomyeloneuropathy |
|
Frontal balding, Fine hair |
ORPHA:139399 |
| Chand Syndrome |
|
Nail dysplasia, Curly hair |
ORPHA:1401 |
| Mucopolysaccharidosis Type 3 |
|
Coarse hair, Hirsutism, Generalized hirsutism, Thick hair, Synophrys |
ORPHA:581 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Sparse lateral eyebrow, Fine hair, Hypoplastic nipples, Sparse hair |
OMIM:280000 |
| Stuve-Wiedemann Syndrome 1 |
|
Sparse hair |
OMIM:601559 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, Abnormal fingernail morphology, Facial hirsutism, Long eyelashes, Thick ey... |
ORPHA:444077 |
| Rothmund-Thomson Syndrome Type 2 |
|
Alopecia totalis, Sparse or absent eyelashes, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, ... |
ORPHA:221016 |
| Chime Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:3474 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Pneumonia, Inflammatory abnormality of the skin, Hypopigmentation of the skin, Keratitis, Skin ra... |
ORPHA:95455 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyebrow, Sparse hair |
ORPHA:175 |
| Down Syndrome |
|
Sparse hair |
ORPHA:870 |
| Mucolipidosis Type Ii |
|
Fine hair, Dry hair, White hair |
ORPHA:576 |
| Cockayne Syndrome B |
|
Abnormal hair morphology, Sparse hair, Dry hair |
OMIM:133540 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair |
OMIM:619934 |
| Kanzaki Disease |
|
Hyperkeratosis |
OMIM:609242 |
| Refractory Celiac Disease |
|
Inflammatory abnormality of the skin |
ORPHA:398063 |
| Hajdu-Cheney Syndrome |
|
Coarse hair, Abnormal fingernail morphology, Thick eyebrow, Low anterior hairline, Generalized hi... |
ORPHA:955 |
| Fabry Disease |
|
Hyperkeratosis, Arthritis |
ORPHA:324 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Inflammatory abnormality of the skin, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, H... |
ORPHA:391487 |
| Myhre Syndrome |
|
Sparse hair, Thick eyebrow, Fine hair |
OMIM:139210 |
| Neurocardiofaciodigital Syndrome |
|
Sparse eyebrow, Sparse hair |
OMIM:619869 |
| Idiopathic Hypereosinophilic Syndrome |
|
Inflammatory abnormality of the skin, Eczematoid dermatitis, Colitis, Erythroderma, Pancreatitis,... |
ORPHA:3260 |
| Igg4-Related Kidney Disease |
|
Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, Int... |
ORPHA:449395 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Pneumonia, Inflammatory abnormality of the skin |
ORPHA:26793 |
| Leprosy |
|
Uveitis, Hyperkeratosis, Iritis |
ORPHA:548 |
| Cockayne Syndrome A |
|
Sparse hair, Dry hair |
OMIM:216400 |
| Leprechaunism |
|
Thickened skin, Acanthosis nigricans, Hyperkeratosis |
ORPHA:508 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Sparse lateral eyebrow, Long eyelashes, Low anterior hairl... |
OMIM:619841 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Sparse eyebrow, Absent nipple, Small nail, Nail dystrophy, Hypoplastic nipples, Sparse hair |
OMIM:620186 |
| Costello Syndrome |
|
Curly hair, Concave nail, Thin nail, Deep-set nails, Sparse hair, Fragile nails |
OMIM:218040 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High anterior hairline, Horizontal eyebrow, Sparse lateral eyebrow, Long eyelashes, Thick eyebrow... |
OMIM:619950 |
| Fontaine Progeroid Syndrome |
|
Absent nipple, Coarse hair, Small nail, Hypertrichosis, Low anterior hairline, Low posterior hair... |
OMIM:612289 |
| Atypical Werner Syndrome |
|
Premature graying of hair, White forelock, Abnormality of retinal pigmentation, Hyperkeratosis, P... |
ORPHA:79474 |
| Postinfectious Vasculitis |
|
Pneumonia, Bacterial endocarditis, Inflammatory abnormality of the skin, Orchitis, Increased infl... |
ORPHA:48435 |
| Ablepharon-Macrostomia Syndrome |
|
Hypoplastic fingernail, Absent eyelashes, Hypoplastic nipples, Absent eyebrow, Sparse hair |
OMIM:200110 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Sparse hair |
OMIM:151050 |
| Cranioectodermal Dysplasia 2 |
|
Sparse eyebrow, Sparse hair, Sparse eyelashes |
OMIM:613610 |
| Focal Dermal Hypoplasia |
|
Supernumerary nipple, Ridged nail, Absent toenail, Nail dystrophy, Nail dysplasia, Patchy alopeci... |
OMIM:305600 |
| Renpenning Syndrome 1 |
|
Sparse hair, Sparse lateral eyebrow, Brittle hair |
OMIM:309500 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Sparse axillary hair, Sparse pubic hair, Sparse body hair |
ORPHA:90796 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Recurrent pneumonia, Follicular hyperkeratosis |
OMIM:225400 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Sparse hair |
OMIM:620005 |
| 6Q Terminal Deletion Syndrome |
|
Hyperkeratosis |
ORPHA:75857 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Sparse eyebrow, Sparse hair, Nail dystrophy |
OMIM:619127 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Follicular hyperkeratosis |
OMIM:614557 |
| Noonan Syndrome |
|
Low posterior hairline, Coarse hair, Abnormal hair quantity |
ORPHA:648 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse eyebrow, Fine hair, Sparse eyelashes, Sparse hair, Sparse scalp hair |
OMIM:210710 |
| Melnick-Needles Syndrome |
|
Frontal hirsutism, Coarse hair |
OMIM:309350 |
| Occipital Horn Syndrome |
|
Pili torti, Coarse hair |
OMIM:304150 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Abnormality of hair texture |
ORPHA:667 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Nail dysplasia, Sparse hair |
OMIM:616682 |
| Cockayne Syndrome Type 3 |
|
Dry hair, Premature graying of hair |
ORPHA:90324 |
| Roberts Syndrome |
|
Sparse hair |
ORPHA:3103 |
| Coffin-Siris Syndrome 1 |
|
Facial hypertrichosis, Dry hair, Hypertrichosis, Long eyelashes, Hypoplastic fifth fingernail, Th... |
OMIM:135900 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Loss of eyelashes, Thin eyebrow, Alopecia, Sparse hair |
ORPHA:2636 |
| Proteus Syndrome |
|
Thickened skin, Irregular hyperpigmentation, Central heterochromia, Generalized hyperkeratosis, M... |
ORPHA:744 |
| Distal Deletion 12Q |
|
Small nail, Fine hair |
ORPHA:96149 |
| Restrictive Dermopathy |
|
Sparse eyebrow, Short nail, Sparse or absent eyelashes, Aplasia/Hypoplastia of the eccrine sweat ... |
ORPHA:1662 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Frontal hirsutism, Sparse hair |
OMIM:617157 |
| Zttk Syndrome |
|
Broad eyebrow, Sparse eyebrow, Curly hair |
OMIM:617140 |
| Ogden Syndrome |
|
Long eyelashes, Sparse eyebrow, Fine hair |
OMIM:300855 |
| Occipital Horn Syndrome |
|
Coarse hair, Thick hair |
ORPHA:198 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Fine hair |
ORPHA:534 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Follicular hyperkeratosis |
ORPHA:536545 |
| Cockayne Syndrome |
|
Dry hair, Fine hair |
ORPHA:191 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse hair, Sparse scalp hair |
OMIM:606721 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Thoracic hypertrichosis, High anterior hairline, Horizontal eyebrow, Medial flaring of the eyebro... |
OMIM:619503 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Thick eyebrow, Alopecia of scalp, Sparse hair, Sparse scalp hair, Fragile nails |
OMIM:150230 |
| Neuroocular Syndrome 1 |
|
Highly arched eyebrow, Small nail, Long eyelashes, Thick eyebrow, Distichiasis, Brittle hair, Syn... |
OMIM:619539 |
| Coffin-Lowry Syndrome |
|
Hyperconvex fingernails, Highly arched eyebrow, Coarse hair, Thick eyebrow |
OMIM:303600 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair |
OMIM:124000 |
| Wiedemann-Rautenstrauch Syndrome |
|
Aplasia/Hypoplasia of the nails, Hirsutism, Sparse hair, Sparse scalp hair, Synophrys |
ORPHA:3455 |
| Wrinkly Skin Syndrome |
|
Short nail, Sparse hair, Fragile nails |
OMIM:278250 |
| Menke-Hennekam Syndrome 1 |
|
Long eyelashes, Sparse hair, Thick eyebrow |
OMIM:618332 |
| Warburg-Cinotti Syndrome |
|
Follicular hyperkeratosis |
OMIM:618175 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Premature graying of hair, Hypoplastic fingernail, White forelock, Low post... |
OMIM:113620 |
| Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Inflammatory abnormality of the skin, Pancreatitis |
ORPHA:565612 |
| Witteveen-Kolk Syndrome |
|
High anterior hairline, Fine hair, Medial flaring of the eyebrow, Hyperconvex nail, Fragile nails |
OMIM:613406 |
| Wrinkly Skin Syndrome |
|
Sparse hair |
ORPHA:2834 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Sparse eyebrow, Broad lateral eyebrow, Curly hair |
ORPHA:500150 |
| Noonan Syndrome 1 |
|
Low posterior hairline, Woolly hair |
OMIM:163950 |
| Restrictive Dermopathy 1 |
|
Epidermal hyperkeratosis |
OMIM:275210 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hypoplastic nipples, Hypertrichosis, Curly hair |
ORPHA:480880 |
| Primrose Syndrome |
|
Sparse body hair, Dystrophic fingernails, Absent axillary hair, Absent facial hair, Sparse scalp ... |
OMIM:259050 |
| Liver Disease, Severe Congenital |
|
Dry hair, Nail dystrophy |
OMIM:619991 |
| Vascular Ehlers-Danlos Syndrome |
|
Abnormality of hair texture, Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eye... |
ORPHA:286 |
| Pallister-Killian Syndrome |
|
Sparse eyebrow, Alopecia, Supernumerary nipple, Sparse anterior scalp hair, Sparse eyelashes, Spa... |
OMIM:601803 |
| Roberts-Sc Phocomelia Syndrome |
|
Sparse hair |
OMIM:268300 |
| Alström Syndrome |
|
Frontal balding, Fine hair, Hirsutism |
ORPHA:64 |
