| Acrokeratosis Verruciformis |
|
Ridged nail, Epidermal acanthosis, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Hyperkera... |
OMIM:101900 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse axillary hair, Pruritus, Perifollicular hyperkeratosis, Spars... |
ORPHA:505 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Abnormal hair morphology, Hyperkeratosis, Onychogryposis, Palmoplantar hyperkeratosis |
OMIM:617756 |
| Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Subungual hyperkeratosis, Gingival hyperkeratosis, Focal friction-re... |
OMIM:148730 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:615028 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
| Ichthyosis Hystrix, Curth-Macklin Type |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Scaling skin |
OMIM:146590 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Ichthyosis, Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:617574 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Epidermal acanthosis, Scaling skin |
OMIM:617115 |
| Verrucous Hemangioma |
|
Inflammatory abnormality of the skin, Hyperkeratotic papule, Epidermal acanthosis |
ORPHA:464318 |
| Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Pruritus, Hyperkeratotic papule, Porokeratosis, Palmoplantar hyperkeratosis |
ORPHA:737 |
| Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:2297 |
| Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
| Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Parakeratosis, Sparse scalp hair, Epidermal acanthosis, Absent facia... |
ORPHA:90368 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Keratosis Palmoplantaris Striata Ii |
|
Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:612908 |
| Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Epidermal acanthosis, Erythema, Palmoplantar hyperkeratosis, Hyperkeratosis, Congenital nonbullou... |
OMIM:617526 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
| Peeling Skin Syndrome 4 |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Ich... |
OMIM:607936 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Scaling skin on fingertip, Epidermal acanthosis, Alopecia, Hypergranulosis, Honeyc... |
ORPHA:79395 |
| Ichthyosis, Annular Epidermolytic, 1 |
|
Abnormal hair morphology, Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, ... |
OMIM:607602 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Nail dystrophy, I... |
ORPHA:79503 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Keratosis Linearis-Ichthyosis Congenita-Sclerosing Keratoderma Syndrome |
|
Palmoplantar keratoderma, Ichthyosis |
ORPHA:281201 |
| Palmoplantar Keratoderma, Punctate Type Ii |
|
Porokeratosis, Spinous keratoses of palms and soles |
OMIM:175860 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Pruritus, Alopecia, Plantar hyperkeratosis, Nail dystrophy |
OMIM:616487 |
| Tongue, Pigmented Fungiform Papillae Of |
|
Abnormality of the tongue |
OMIM:275250 |
| Psoriasis 2 |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Hyperkeratosis, Scaling skin |
OMIM:602723 |
| Krt1-Related Diffuse Nonepidermolytic Keratoderma |
|
Concave nail, Diffuse palmoplantar hyperkeratosis, Nonepidermolytic palmoplantar hyperkeratosis, ... |
ORPHA:530838 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Anonychia With Flexural Pigmentation |
|
Abnormal hair morphology, Hyperkeratosis, Alopecia of scalp, Follicular hyperkeratosis, Anonychia |
ORPHA:69125 |
| Bathing Suit Ichthyosis |
|
Parakeratosis, Alopecia, Epidermal acanthosis, Thickened skin, Erythroderma, Palmoplantar hyperke... |
ORPHA:100976 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis, Nail dystrophy |
OMIM:131850 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Sparse eyebrow, Palmoplantar kera... |
ORPHA:2722 |
| Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
| Dermatitis Herpetiformis, Familial |
|
Pruritus |
OMIM:601230 |
| Pruritus, Hereditary Localized |
|
Pruritus |
OMIM:177100 |
| Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
| Epidermolytic Hyperkeratosis 1 |
|
Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital bullous... |
OMIM:113800 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Alopecia totalis, Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Nail dystrophy, N... |
OMIM:212360 |
| Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Yellow nails, Hyperkeratosis, Palmoplantar keratoderma, Scaling s... |
ORPHA:166113 |
| Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal fingern... |
ORPHA:79147 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Hyperkeratosis, Nail dystrophy, Fine hair |
OMIM:300652 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Epidermal acanthosis, Sparse eyebrow, Cutis laxa, Absent pubic hair,... |
ORPHA:2269 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthy... |
OMIM:612281 |
| Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin, Generalized hirsutism |
ORPHA:2812 |
| Aquagenic Palmoplantar Keratoderma |
|
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... |
ORPHA:498359 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Pruritus, Sparse eyebrow, Erythema, Follicular hyperkeratosis, Sp... |
OMIM:607903 |
| Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis, Epidermal acanthosis |
ORPHA:199267 |
| Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
| Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Diffuse palmoplantar hyperkeratosis, Onychogryposis of toenails, Alopecia of scalp, Spa... |
OMIM:617294 |
| Ulerythema Ophryogenesis |
|
Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermat... |
ORPHA:3406 |
| Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
| Olmsted Syndrome 2 |
|
Parakeratosis, Epidermal acanthosis, Pruritus, Perioral hyperkeratosis, Palmoplantar hyperkeratos... |
OMIM:619208 |
| Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Hyperkeratotic p... |
ORPHA:189 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Brittle hair, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkerat... |
OMIM:618546 |
| Epidermolytic Palmoplantar Keratoderma |
|
Epidermal acanthosis, Abnormal fingernail morphology, Hypergranulosis, Epidermal hyperkeratosis, ... |
ORPHA:2199 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosifor... |
OMIM:604777 |
| White Sponge Nevus 2 |
|
Hyperparakeratosis, Epidermal acanthosis, Edema |
OMIM:615785 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Epidermal acanthosis, Hypergranulosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Generali... |
OMIM:133200 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Patchy alopecia, Reduced epidermal extracellular matrix protein 1... |
OMIM:247100 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Epidermal acanthosis, Alopecia totalis, Palmoplantar hyp... |
OMIM:300918 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Palmoplantar hyperkeratosis, Scaling skin, Nail dystrophy, Spar... |
OMIM:604536 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Plantar hyperkeratosis, Brittle hair, Epidermal hyperkeratosis, Sparse eyebrow, Leukony... |
OMIM:104100 |
| Ichthyosis With Confetti |
|
Pruritus, Erythroderma, Palmoplantar hyperkeratosis, Scaling skin, Congenital nonbullous ichthyos... |
OMIM:609165 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Epidermal acanthosis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Leukonychia, ... |
OMIM:616295 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Alopecia, Epidermal acanthosis, Erythroderma, Palmoplantar hyperkeratosis, Congeni... |
OMIM:242300 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Perifollicular hyperkeratosis, Nail dystroph... |
OMIM:158000 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Ridged nail, Abnormal fingernail morphology, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosi... |
ORPHA:89838 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
| Atrophoderma Vermiculata |
|
Pruritus, Abnormal epidermal morphology, Erythema, Follicular hyperkeratosis, Hyperkeratotic papule |
ORPHA:79100 |
| Moynahan Syndrome |
|
Sparse hair, Hyperkeratosis, Alopecia |
ORPHA:2574 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... |
OMIM:602540 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Epidermal acanthosis, Hypergranulosis, Yellow nails, Palmoplantar hyperkeratosis, Orthokeratotic ... |
OMIM:148700 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Epidermal acanthosis, Hypergranulosis, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar kerato... |
OMIM:617525 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Hyperconvex nail, Linear arrays of macular hyperkeratoses in flexural areas, Honey... |
OMIM:601952 |
| Elastosis Perforans Serpiginosa |
|
Hyperkeratotic papule, Crusting erythematous dermatitis, Epidermal acanthosis, Cutis laxa |
ORPHA:79148 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Mal De Meleda |
|
Inflammatory abnormality of the skin, Superficial dermal perivascular inflammatory infiltrate, Ep... |
ORPHA:87503 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Epidermal acanthosis, Hypergranulosis |
OMIM:148600 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
| Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Edema, Pruritus, Splenomegaly, Erythema, Skin ulcer, Hyperkeratosis,... |
ORPHA:2584 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Pruritus, Hyperkeratosis, Nail dystrophy, Palmar hyperkeratosis |
ORPHA:79399 |
| Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmopla... |
ORPHA:312 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
| Ichthyosis, Congenital, Autosomal Recessive 7 |
|
Epidermal acanthosis, Hypergranulosis, Erythroderma, Palmoplantar keratoderma, Ichthyosis |
OMIM:615022 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Hyperkeratosis, Palmoplantar keratoderma, Onycholysi... |
OMIM:224750 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Epidermal acanthosis, Seborrheic dermatitis |
OMIM:610227 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Abnormal fingernail morphology, Focal friction-related palmoplantar hyp... |
ORPHA:2200 |
| Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Epidermal acanthosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperke... |
ORPHA:79151 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Skin rash, Abnormal hair morphology, Erythema, Patchy palmoplantar hyperkeratosis, Weig... |
ORPHA:317 |
| Lymphatic Malformation 4 |
|
Hyperkeratosis, Toenail dysplasia, Pedal edema, Lymphedema |
OMIM:615907 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
| Superficial Epidermolytic Ichthyosis |
|
Edema, Acantholysis, Erythema, Palmoplantar keratoderma, Ichthyosis |
ORPHA:455 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Edema, Acantholysis, Sparse eyebrow, Woolly hair, Palmoplantar hyperk... |
OMIM:605676 |
| Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Abnormal hair morphology, Scarring alopecia of scalp, Pustule, Erythem... |
ORPHA:346 |
| Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
| Erosive Pustular Dermatosis Of The Scalp |
|
Abnormal hair morphology, Scarring alopecia of scalp, Erythema, Pustule |
ORPHA:222 |
| Ichthyosis Prematurity Syndrome |
|
Epidermal acanthosis, Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis... |
OMIM:608649 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Epidermal acanthosis, Sparse axillary hair, Sparse eyebrow, ... |
OMIM:613102 |
| Cole Disease |
|
Epidermal acanthosis, Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:615522 |
| Peeling Skin Syndrome 3 |
|
Abnormal hair morphology, Erythema, White scaling skin, Pruritus |
OMIM:616265 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Plantar hyperkeratosis, Nail dystrophy, Nail dysplasia, Palmar hyperkeratosis, Hyperker... |
ORPHA:79397 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Leukonychia, Hyperkeratosis, Palmoplantar keratoderma, Nail dy... |
OMIM:615821 |
| Erythrokeratodermia Variabilis Et Progressiva 2 |
|
Erythema, Palmoplantar keratoderma, Hypertrichosis |
OMIM:617524 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
| Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Hyperkeratosis, Scaling skin, Congenital nonbullous ichthyosiform erythroderma, Ichthyo... |
OMIM:614457 |
| Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
| Vulvovaginal Gingival Syndrome |
|
Ridged nail, Parakeratosis, Epidermal acanthosis, Pruritus, Erythema |
ORPHA:83453 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Congenital onychodystrophy, Eczema, Absent eyelashes, Gen... |
ORPHA:2890 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Absent eyelashes, Hyperkeratosis, Nail dystrophy, Sparse hair |
OMIM:618625 |
| Pemphigus Foliaceus |
|
Psoriasiform dermatitis, Acantholysis, Pruritus, Pustule, Crusting erythematous dermatitis, Eryth... |
ORPHA:79481 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Pruritus, Skin ulcer, Hyperkeratosis, Onycholysis |
ORPHA:525 |
| Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis, Nail dystrophy |
OMIM:175900 |
| Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Epidermal acanthosis, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:615023 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Abnormal toenail mor... |
ORPHA:494 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Facial erythema, Pruritis on hand... |
ORPHA:64745 |
| Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Abnormality of the nail, Skin vesicle |
ORPHA:254478 |
| Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
| Acrokeratoelastoidosis Of Costa |
|
Epidermal acanthosis, Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratosis, Hyperkeratoti... |
ORPHA:38 |
| Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
| Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... |
ORPHA:90280 |
| Congenital Velopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Abnormal palate morphology |
ORPHA:2291 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Pruritus, Sparse eyebrow, Hyperkerat... |
OMIM:602400 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Alopecia, Epidermal acanthosis, Thin nail, Hypergranulosis, Abnormal hair morphology, Erythema, H... |
OMIM:242100 |
| Dowling-Degos Disease 4 |
|
Pruritus, Epidermal acanthosis, Hypergranulosis |
OMIM:615696 |
| Darier Disease |
|
Acrokeratosis, Pruritus, Thickened skin, Abnormal hair morphology, Palmoplantar keratoderma, Skin... |
ORPHA:218 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Alopecia, Dry skin, Palmoplantar keratoderma, Scaling skin, Nail dystrophy, Alopecia of scalp |
OMIM:618373 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Dry skin, Sparse hair |
OMIM:617073 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
| Flynn-Aird Syndrome |
|
Hyperkeratosis, Alopecia, Alopecia of scalp |
OMIM:136300 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis, Abnormal toenail morphology, Nail dystrophy |
ORPHA:89843 |
| Dermoodontodysplasia |
|
Ectodermal dysplasia, Dry skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ichthyosifor... |
OMIM:613576 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Fine hair, Hyperkeratosis, Pili torti |
ORPHA:1573 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
| Lamellar Ichthyosis |
|
Pruritus, Erythroderma, Dehydration, Lack of skin elasticity, Hyperkeratosis, Ichthyosis, Sparse ... |
ORPHA:313 |
| Darier-White Disease |
|
Ridged nail, Acrokeratosis, Acantholysis, Pruritus, Subungual hyperkeratotic fragments |
OMIM:124200 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal acanthosis |
OMIM:615735 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... |
ORPHA:2897 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis, Edema, Erythema, Urticaria, Telangiectasia macularis eruptiva perstans |
OMIM:154800 |
| Idiopathic Localized Lipodystrophy |
|
Inflammatory abnormality of the skin, Pruritus, Erythema, Scaling skin, Scleroderma, Morphea |
ORPHA:90158 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Irida Syndrome |
|
Hyperkeratosis, Pallor, Ichthyosis |
ORPHA:209981 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Palmoplantar keratoderma, Fingernail dysplasia, Sparse hair, Onychogryposis of fingerna... |
ORPHA:2251 |
| Jessner Lymphocytic Infiltration Of The Skin |
|
Abnormal lymphocyte morphology, Cutaneous photosensitivity, Erythema, Pruritus |
ORPHA:33314 |
| Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Dry skin, Scaling skin, Erythroderma |
OMIM:609180 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypohidrosis, Ectode... |
OMIM:129490 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
| Palmoplantar Keratoderma, Epidermolytic, 1 |
|
Localized epidermolytic hyperkeratosis, Plantar hyperkeratosis, Palmoplantar hyperkeratosis, Palm... |
OMIM:144200 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Hypohidrosis, Fine hair, Abno... |
ORPHA:248 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
| Pachyonychia Congenita 1 |
|
Nail dystrophy, Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Onychogryposis |
OMIM:167200 |
| Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Hyperkeratosis, Malar rash, Psoriasiform lesion |
ORPHA:163525 |
| Reticular Dysgenesis |
|
Skin rash, Abnormality of neutrophils, Dehydration, Decreased circulating antibody level, Skin ul... |
ORPHA:33355 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Folliculitis, Palm... |
OMIM:308800 |
| Pemphigus Vulgaris |
|
Recurrent cutaneous abscess formation, Acantholysis |
ORPHA:704 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Eosinophilia, Acantholysis, Facial edema, Pustule, ... |
ORPHA:293173 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Trichorrhexis n... |
ORPHA:1010 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Palmoplantar hyperkeratosis, Nail dystrophy, Erythema migrans, Skin vesicle |
ORPHA:158681 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Eczema, Pruritus, Hypohidrosis, Palmoplan... |
OMIM:618535 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Concave nail, Atopic dermatitis, Nail pits, Patchy alopecia, Nail dystrop... |
ORPHA:79153 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Phenylketonuria |
|
Hyperactivity, Eczema, Aggressive behavior, Dry skin, Compulsive behaviors, Attention deficit hyp... |
OMIM:261600 |
| Sézary Syndrome |
|
Alopecia, Edema, Abnormal immunoglobulin level, Pruritus, Splenomegaly, Palmoplantar keratoderma,... |
ORPHA:3162 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Epidermal acanthosis, Hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Anonychia |
OMIM:616029 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Alopecia totalis, Nail dystrophy, Palmoplantar keratoderma, Lack of skin elasticity |
ORPHA:1366 |
| Acral Peeling Skin Syndrome |
|
Eczema, Erythema, Scaling skin, Ichthyosis, Excessive wrinkling of palmar skin |
ORPHA:263534 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Skin rash, Sparse eyebrow, Abnormal hair morphology,... |
ORPHA:634 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Acral Self-Healing Collodion Baby |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Erythema, Lack of skin elasticity, Pal... |
ORPHA:281127 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Pruritus, Erythroderma, Palmoplantar keratoderma, Ichthyosis, Abnormality of the nail |
ORPHA:79394 |
| Progressive Symmetric Erythrokeratodermia |
|
Erythema, Palmoplantar keratoderma |
ORPHA:316 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
| Amyloidosis, Primary Localized Cutaneous, 3 |
|
Pruritus, Cutaneous photosensitivity, Dry skin |
OMIM:617920 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Plantar hyperkeratosis, Patchy alopecia, Nail dystrophy, Fragile nails |
OMIM:226650 |
| Dermoodontodysplasia |
|
Sparse scalp hair, Hypohidrosis, Ectodermal dysplasia, Fingernail dysplasia, Trichodysplasia, Dry... |
ORPHA:1660 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
| Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:46532 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Acantholysis, Absent fingernail, Anonychia, Alopecia universalis |
OMIM:609638 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Microcytic anemia, Dry skin, Cutis laxa, Hyperkeratosis, Dysphagia, Failure to thrive, Hy... |
OMIM:612379 |
| Basan Syndrome |
|
Palmoplantar keratoderma, Epidermal acanthosis, Nail dystrophy |
OMIM:129200 |
| Ectodermal Dysplasia With Mental Retardation And Syndactyly |
|
Sparse eyebrow, Onychogryposis of toenails, Wide nasal bridge, Hypohidrosis, Ectodermal dysplasia... |
OMIM:600906 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Perifolliculitis, Alopecia of scalp |
OMIM:260910 |
| Panniculitis-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Abnormal immunoglobuli... |
ORPHA:90159 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... |
OMIM:617337 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Facial erythema, Follicul... |
OMIM:612843 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Palmoplantar keratoderma, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Pa... |
OMIM:129500 |
| Elastoderma |
|
Premature skin wrinkling, Erysipelas, Eczema, Cutis laxa |
ORPHA:228240 |
| Keratosis Pilaris Atrophicans |
|
Absent eyelashes, Erythema, Sparse eyebrow |
OMIM:604093 |
| Acute Radiation Syndrome |
|
Hyperkeratosis, Inflammatory abnormality of the skin, Scaling skin, Skin ulcer |
ORPHA:454831 |
| Tylosis With Esophageal Cancer |
|
Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis |
OMIM:148500 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Leukonychia, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Hydroa Vacciniforme |
|
Hydroa vacciniforme, Telangiectasia of the skin, Superficial dermal perivascular inflammatory inf... |
ORPHA:330058 |
| Mednik Syndrome |
|
Hyperkeratosis, Ichthyosis |
ORPHA:171851 |
| Complex Regional Pain Syndrome |
|
Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Pedal edema, ... |
ORPHA:83452 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Hyperkeratosis, Coarse hair, Brittle hair |
ORPHA:1883 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Alopecia, Epidermal acanthosis, Sparse eyelashes, Thick hair, Pruritus, Sparse eye... |
OMIM:607626 |
| Transaldolase Deficiency |
|
Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Telangiectasia, Premature skin wrin... |
ORPHA:101028 |
| Vibratory Urticaria |
|
Urticaria, Flushing, Facial erythema |
OMIM:125630 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Dermatitis, Atopic |
|
Recurrent skin infections, Eczema, Pruritus, Atopic dermatitis, Facial erythema, Pallor, Dry skin |
OMIM:603165 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Erythema, Crusting erythematous dermatitis, Palmoplan... |
ORPHA:158673 |
| Trichothiodystrophy 1, Photosensitive |
|
Decreased circulating IgG level, Death in infancy, Brittle hair, Small for gestational age, Trich... |
OMIM:601675 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Cutaneous Photosensitivity And Colitis, Lethal |
|
Early cutaneous photosensitivity, Death in infancy, Erythema |
OMIM:219095 |
| Kerion Celsi |
|
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... |
ORPHA:499 |
| Ichthyosis Vulgaris |
|
Eczematoid dermatitis, Dry skin |
OMIM:146700 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Prematurely aged appearance, Dry skin, Low posterior hairline, Premature ... |
ORPHA:2617 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Omenn Syndrome |
|
Alopecia, Eosinophilia, Edema, Pruritus, Splenomegaly, Leukocytosis, Thyroiditis, Dry skin, Anemi... |
ORPHA:39041 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Hyperkeratosis, Onycholysis, Dry... |
ORPHA:1028 |
| Mal De Meleda |
|
Congenital symmetrical palmoplantar keratosis, Fragile nails, Perioral erythema, Ichthyosis |
OMIM:248300 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Erythroderma, ... |
OMIM:615508 |
| Familial Cold Urticaria |
|
Pruritus, Erythema, Dehydration, Hyperhidrosis, Urticaria, Polydipsia |
ORPHA:47045 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Nailfold capillary tortuosity, Lymphopenia, Cutis marmorata, Skin rash, Increased circulating IgA... |
OMIM:615934 |
| Peeling Skin Syndrome 1 |
|
Brittle hair, Eosinophilia, Pruritus, Onycholysis, Scaling skin, Nail dystrophy, Erythroderma |
OMIM:270300 |
| Bifid Uvula |
|
Submucous cleft soft palate, Cleft lip, Bifid uvula |
ORPHA:99771 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Dry hair, Palmoplantar hyperkeratosis, Hyperhidrosis, Dystrophic fingernails, Thin n... |
OMIM:257980 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Recurrent skin infections, Eosinophilia, Eczema, Pruritus, Increased circulating IgE le... |
OMIM:618282 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Congenital Lethal Erythroderma |
|
Death in infancy, Congenital exfoliative erythroderma, Dry skin, Urticaria, Failure to thrive |
ORPHA:1954 |
| Prolidase Deficiency |
|
Abnormal fingernail morphology, Pruritus, Splenomegaly, Erythema, Low anterior hairline, Crusting... |
ORPHA:742 |
| Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
| Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Erythema, Dry skin, Ichthyosis |
ORPHA:816 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Hyperkeratosis, Alopecia, Fine hair |
ORPHA:1839 |
| Huriez Syndrome |
|
Congenital palmoplantar hyperkeratosis, Epidermal acanthosis, Nail dystrophy, Small nail |
OMIM:181600 |
| Pressure-Induced Localized Lipoatrophy |
|
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Erythema |
ORPHA:90160 |
| Macroglossia |
|
Macroglossia |
OMIM:153630 |
| Cutaneous Mastocytoma |
|
Telangiectasia of the skin, Maculopapular exanthema, Pruritus, Angioedema, Erythema, Darier's sig... |
ORPHA:79455 |
| Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Pruritus, Palmoplantar keratoderma, Scaling skin, Follicu... |
ORPHA:158668 |
| Transgrediens Et Progrediens Palmoplantar Keratoderma |
|
Recurrent bacterial skin infections, Plantar hyperkeratosis, Hyperconvex nail, Diffuse palmoplant... |
ORPHA:495 |
| Anonychia With Flexural Pigmentation |
|
Anonychia, Dry skin |
OMIM:106750 |
| Ataxia-Photosensitivity-Short Stature Syndrome |
|
Urticaria, Cutaneous photosensitivity, Dry skin |
ORPHA:1184 |
| Cutaneous Small Vessel Vasculitis |
|
Skin rash, Cutis marmorata, Recurrent skin infections, Erythema, Urticaria, Purpura |
ORPHA:889 |
| Ramon Syndrome |
|
Hyperkeratosis, Generalized hirsutism |
ORPHA:3019 |
| Pachyonychia Congenita |
|
Alopecia, Paronychia, Onychogryposis of toenails, Linear arrays of macular hyperkeratoses in flex... |
ORPHA:2309 |
| Proteus Syndrome |
|
Hyperkeratosis, Epidermal acanthosis |
OMIM:176920 |
| Iga Pemphigus |
|
Neutrophilic infiltration of the skin, Eosinophilia, Acantholysis, Pruritus, Pustule, Skin vesicl... |
ORPHA:555905 |
| Lipoid Proteinosis |
|
Acne, Pustule, Thickened skin, Hyperkeratosis, Alopecia of scalp |
ORPHA:530 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Centrifugal Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lack of faci... |
ORPHA:90156 |
| Huriez Syndrome |
|
Lack of skin elasticity, Palmoplantar keratoderma, Small nail, Dry skin, Abnormality of the nail |
ORPHA:384 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Brittle hair, Small for gestational age, Slow-growing hair, Tiger tail banding, Dry skin |
OMIM:616943 |
| Cutaneous Collagenous Vasculopathy |
|
Prominent superficial blood vessels, Skin rash, Pruritus, Erythema, Diffuse telangiectasia, Bruis... |
ORPHA:280779 |
| Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Hyperkeratosis |
OMIM:620014 |
| Angioma Serpiginosum |
|
Erythema, Vascular skin abnormality |
ORPHA:95429 |
| Congenital Ichthyosis-Microcephalus-Tetraplegia Syndrome |
|
Dry skin |
ORPHA:2271 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Hyperkeratosis,... |
OMIM:610768 |
| Dermatoleukodystrophy |
|
Premature skin wrinkling, Progeroid facial appearance |
OMIM:221790 |
| Erythema Nodosum, Familial |
|
Erythema nodosum, Erythema |
OMIM:132990 |
| Chronic Hiccup |
|
Abnormal eating behavior, Dehydration, Weight loss |
ORPHA:396 |
| Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Toenail dysplasia, Pedal edema, Hyperkeratosis, ... |
ORPHA:79452 |
| Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Epidermal acanthosis, Pustule, Erythema, Nail dystrophy |
OMIM:614204 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Attention deficit hyperactivity disorder, High ... |
OMIM:617364 |
| Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal edema, Angioedema, Eryth... |
ORPHA:100057 |
| Harlequin Ichthyosis |
|
Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis |
ORPHA:457 |
| Alg8-Cdg |
|
Small for gestational age, Abnormality of subcutaneous fat tissue, Edema, Thrombocytopenia, Hydro... |
ORPHA:79325 |
| Thyrotropin-Releasing Hormone Deficiency |
|
Hypothalamic hypothyroidism, Dry skin, Hypothyroidism |
OMIM:275120 |
| Uv-Sensitive Syndrome 3 |
|
Cutaneous photosensitivity, Dry skin, Telangiectasia |
OMIM:614640 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Aggressive behavior, Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairlin... |
OMIM:300860 |
| Dowling-Degos Disease |
|
Abnormal fingernail morphology, Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Ac... |
ORPHA:79145 |
| Warty Dyskeratoma |
|
Abnormal fingernail morphology, Acrokeratosis, Epidermal thickening, Acantholysis |
ORPHA:69745 |
| Netherton Syndrome |
|
Hypernatremic dehydration, Sparse scalp hair, Decreased circulating IgG level, Brittle hair, Recu... |
OMIM:256500 |
| Maculopapular Cutaneous Mastocytosis |
|
Pruritus, Erythema, Darier's sign, Dermatographic urticaria, Generalized abnormality of skin, Flu... |
ORPHA:79457 |
| Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
| Orthostatic Hypotensive Disorder, Streeten Type |
|
Bruising susceptibility, Facial erythema |
OMIM:143850 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Polyhydramnios, Pustule, Increased circulating IgE level, Dehydration, Long eyelashes, Failure to... |
OMIM:616069 |
| Adiposis Dolorosa |
|
Telangiectasia of the skin, Recurrent skin infections, Sparse axillary hair, Sparse pubic hair, X... |
ORPHA:36397 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Telangiectasia of the skin, Erythema, Skin ulcer, Granuloma... |
ORPHA:542592 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Epidermal acanthosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans... |
OMIM:618527 |
| Myoclonic-Astatic Epilepsy |
|
Hyperactivity, Frontal balding, Wide nasal bridge, Attention deficit hyperactivity disorder, Prem... |
ORPHA:1942 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
| Keratolytic Winter Erythema |
|
Pustule, Erythema, Hyperhidrosis |
ORPHA:50943 |
| Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
| Candidiasis, Familial, 1 |
|
Alopecia, Chronic mucocutaneous candidiasis |
OMIM:114580 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Anorexia, Pustule, Paronychia, Erythema, Dry ... |
ORPHA:37 |
| Keratolytic Winter Erythema |
|
Erythema, Palmoplantar hyperhidrosis |
OMIM:148370 |
| Uv-Sensitive Syndrome 1 |
|
Cutaneous photosensitivity, Dry skin, Telangiectasia |
OMIM:600630 |
| Sydenham Chorea |
|
Erythema, Inappropriate behavior, Compulsive behaviors |
ORPHA:306731 |
| Pemphigus Erythematosus |
|
Malar rash, Acantholysis |
ORPHA:79480 |
| Naxos Disease |
|
Subungual hyperkeratosis, Curly hair, Epidermal acanthosis, Acantholysis, Sparse eyebrow, Diffuse... |
OMIM:601214 |
| Craniofaciofrontodigital Syndrome |
|
Prominent superficial veins, Thick hair, Edema, Large for gestational age, Polyhydramnios, Perica... |
ORPHA:363705 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Increased body mass index, Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidis... |
OMIM:614450 |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Dysphagia |
OMIM:617732 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Eczema, Xerostomia, Dry skin, Hypohidrosis, Aplasia/Hy... |
ORPHA:238468 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Acantholysis, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alo... |
ORPHA:158687 |
| Leopard Syndrome 3 |
|
Curly hair, Epidermal hyperkeratosis, Low posterior hairline, Hyperkeratosis, Dry skin |
OMIM:613707 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Epidermal acanthosis, Palmoplantar keratoderma, Nail dystrophy, Follicular hyperke... |
OMIM:615225 |
| Atelis Syndrome 1 |
|
Decreased lymphocyte proliferation in response to anti-CD3, Eczema, Thrombocytopenia, Leukopenia,... |
OMIM:620184 |
| Bone Marrow Failure Syndrome 4 |
|
Eczema, Thrombocytopenia, Decreased circulating antibody level, Leukopenia, Bone marrow hypocellu... |
OMIM:618116 |
| Acrogeria |
|
Telangiectasia of the skin, Prematurely aged appearance, Skin ulcer, Fine hair, Excessive wrinkle... |
ORPHA:2500 |
| Cutis Laxa, Autosomal Dominant 2 |
|
Premature skin wrinkling, Cutis laxa |
OMIM:614434 |
| Amyloidosis, Primary Localized Cutaneous, 1 |
|
Pruritus, Dry skin, Scaling skin |
OMIM:105250 |
| Combined Oxidative Phosphorylation Deficiency 36 |
|
Premature skin wrinkling, Failure to thrive |
OMIM:617950 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Erythema Of Acral Regions |
|
Erythema |
OMIM:227000 |
| Familial Melanoma |
|
Abnormal hair morphology, Dry skin |
ORPHA:618 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Skin rash, Eosinophilia, Erythema, Increased circulating IgE level, Chronic mucocutaneous candidi... |
OMIM:147060 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Eczema, Aggressive behavior, Pica, Obesity, Long eyelashes, Dry skin |
OMIM:620191 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
| Dermatitis Herpetiformis |
|
Eczema, Edema, Microcytic anemia, Pruritus, Erythema, Urticaria, Skin vesicle |
ORPHA:1656 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Palmoplantar keratoderma, Wooll... |
OMIM:616099 |
| Autosomal Erythropoietic Protoporphyria |
|
Eczema, Edema, Microcytic anemia, Pruritus, Erythema, Cutaneous photosensitivity |
ORPHA:79278 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Nonimmune hydrops fetalis, Sparse e... |
OMIM:137940 |
| Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Large for gestational age, A... |
OMIM:619075 |
| Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
| Rosaï-Dorfman Disease |
|
Erythema, Dysgammaglobulinemia, Anemia |
ORPHA:158014 |
| Hatipoglu Immunodeficiency Syndrome |
|
Anhidrosis, Failure to thrive, Pancytopenia, Eczema, Poor wound healing, Atopic dermatitis, Dry s... |
OMIM:620331 |
| Primary Erythromelalgia |
|
Pruritus, Leukemia, Erythema |
ORPHA:90026 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Pancytopenia, Impaired T cell function, Splenomegaly, Patent ductus arteriosus,... |
OMIM:614576 |
| Radio-Tartaglia Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Long eyebrows, Aggressive behavior, Impulsivity, Synophrys,... |
OMIM:619312 |
| Night Blindness, Congenital Stationary, Type 1C |
|
Dry skin |
OMIM:613216 |
| Craniosynostosis-Mental Retardation-Clefting Syndrome |
|
Dry skin |
OMIM:218650 |
| Bullous Impetigo |
|
Pustule, Recurrent bacterial skin infections, Erythema |
ORPHA:36237 |
| Drug-Induced Localized Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Erythema |
ORPHA:90157 |
| Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal fingernail morphology, Pruritus, Erythema, Broad nail, Skin ulcer, Hyperkerat... |
ORPHA:1334 |
| Peeling Skin Syndrome 2 |
|
Erythema, Scaling skin |
OMIM:609796 |
| Aicardi-Goutieres Syndrome 5 |
|
Chilblains, Dry skin, Scaling skin, Thrombocytopenia |
OMIM:612952 |
| Jung Syndrome |
|
Dry skin, Hypothyroidism, Wide nasal bridge, Low posterior hairline |
ORPHA:2321 |
| Hartnup Disorder |
|
Hyperactivity, Glossitis, Attention deficit hyperactivity disorder |
OMIM:234500 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
| Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Perianal erythema, Pustule, Paronychia, Increased circulating IgE level, Perioral erythema, Eryth... |
OMIM:614328 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... |
OMIM:614941 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Perianal erythema, Impaired T cell function, Splenomegaly, Paronychia, Dry ski... |
OMIM:201100 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Thickened skin, Erythema, Skin ulcer, Palmoplantar kera... |
ORPHA:659 |
| Epidermolysis Bullosa Simplex 2E, With Migratory Circinate Erythema |
|
Erythema migrans |
OMIM:609352 |
| Erythema Palmare Hereditarium |
|
Erythema |
OMIM:133000 |
| Benign Chronic Pemphigus |
|
Erythema |
OMIM:169600 |
| Annular Erythema |
|
Erythema |
OMIM:106500 |
| Familial Cold Autoinflammatory Syndrome 3 |
|
Pruritus, Angioedema, Erythema, Dermatographic urticaria, Cold urticaria, Hashimoto thyroiditis |
OMIM:614468 |
| Dermatopathia Pigmentosa Reticularis |
|
Alopecia of scalp, Nail dystrophy, Palmoplantar hyperkeratosis |
OMIM:125595 |
| Noonan Syndrome 5 |
|
Curly hair, Polyhydramnios, Large for gestational age, Sparse eyebrow, Fine hair, Small nail, Dry... |
OMIM:611553 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Onychogryposis of toenails, Palmoplantar keratoderma, Nail d... |
OMIM:615726 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Autoimmune hemolytic anemia, Increased circulating IgA level, Splenomegaly, Hypereosinophilia, Th... |
OMIM:617388 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Dry skin, Follicular hyperkeratosis |
OMIM:617066 |
| Noonan Syndrome 13 |
|
Highly arched eyebrow, Lymphedema, Aggressive behavior, Bruising susceptibility, Wide nasal bridg... |
OMIM:619087 |
| Protoporphyria, Erythropoietic, 1 |
|
Hemolytic anemia, Eczema, Edema, Pruritus, Erythema |
OMIM:177000 |
| Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
| Noonan Syndrome 8 |
|
Curly hair, Eczema, Polyhydramnios, Hyperkeratosis, Palmoplantar cutis laxa, Pleural effusion |
OMIM:615355 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Hepatomegaly, Syndactyly, Short stature, Splenomegaly, Jaundice, Growth delay, Pallor |
OMIM:615631 |
| Lupus Erythematosus Tumidus |
|
Deep dermal perivascular inflammatory infiltrate, Scaling skin |
ORPHA:90283 |
| Riddle Syndrome |
|
Decreased circulating IgG level, Dry skin |
OMIM:611943 |
| Cardiofaciocutaneous Syndrome 3 |
|
Hyperkeratosis, Curly hair |
OMIM:615279 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Grubben-De Cock-Borghgraef Syndrome |
|
Dry skin, Eczema |
ORPHA:2101 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormal fingernail morphology, Skin ulcer, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:1806 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Excessive wrinkl... |
ORPHA:3051 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Ichthyosis |
ORPHA:281090 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Anhidrosis, Subungual hyperkeratosis, Punctate palmoplantar hyperkeratosis, Dry skin, Hypohidrosi... |
ORPHA:69087 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Snakebite Envenomation |
|
Edema, Angioedema, Erythema, Neuromuscular dysphagia, Pseudobulbar paralysis, Ecchymosis, Hypopit... |
ORPHA:449285 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Dry skin, Sparse body hair |
ORPHA:177 |
| Progeroid Syndrome, Petty Type |
|
Reduced subcutaneous adipose tissue, Brittle hair, Prematurely aged appearance, Redundant skin, A... |
ORPHA:2963 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Epidermal acanthosis, Hypergranulosis, Abnormal epidermal morphology, Palmoplantar hyperkeratosis... |
ORPHA:79501 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Abnormal eyelash morphology, Sparse scalp hair, Sparse body hair, Alopecia universalis |
ORPHA:1008 |
| Spinocerebellar Ataxia Type 34 |
|
Urticaria, Dry skin, Hypohidrosis |
ORPHA:1955 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Redundant skin, Highly arched eyebrow, Abnormal hair pattern, Prematurely... |
ORPHA:1807 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Dry skin, Follicular hyperkeratosis |
ORPHA:486815 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Lymphedema |
ORPHA:79279 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis, Sparse scalp hair |
ORPHA:2611 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Leukocytosis,... |
OMIM:308300 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Erythroderma... |
ORPHA:35173 |
| Microphthalmia, Syndromic 8 |
|
Premature skin wrinkling |
OMIM:601349 |
| Cog7-Cdg |
|
Small for gestational age, Jaundice, Hepatosplenomegaly, Excessive wrinkled skin, Failure to thrive |
ORPHA:79333 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Dehydration |
OMIM:601410 |
| Pachyonychia Congenita 2 |
|
Subungual hyperkeratosis, Dry hair, Sparse scalp hair, Sparse eyebrow, Palmoplantar hyperkeratosi... |
OMIM:167210 |
| Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Abnormality of the nail |
ORPHA:28378 |
| Bullous Pemphigoid |
|
Psoriasiform dermatitis, Eczema, Erythema, Weight loss, Urticaria |
ORPHA:703 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Anorexia, Thrombocytopenia, Splenomegaly, Dehydration, Neutropenia, Failure to thrive, Pancreatit... |
ORPHA:79312 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Leopard Syndrome 2 |
|
Curly hair, Dry skin |
OMIM:611554 |
| Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic h... |
OMIM:148210 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis, Penetrating foot ulcers, Skin ulcer |
ORPHA:36386 |
| Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Dehydration |
OMIM:614265 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:613435 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Distal Duplication 6P |
|
Abnormal eyelash morphology, Dry skin, Fine hair, Abnormal hair quantity |
ORPHA:1745 |
| Cog5-Cdg |
|
Wide nasal bridge, Hepatosplenomegaly, Abnormality of the frontal hairline, Premature skin wrinkl... |
ORPHA:263487 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Edema, Poor wound healing, Hirsutism, Obesity, Facial erythema, Abdominal obesity, Ecchymosis, Br... |
OMIM:219090 |
| Lig4 Syndrome |
|
Pancytopenia, Telangiectasia of the skin, Leukocytosis, Erythema, Low anterior hairline, Wide nas... |
ORPHA:99812 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Sparse ... |
OMIM:614940 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Dehydration, Death in childhood, Failure to thrive, Hirsutism |
OMIM:214150 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Erythroderma, Palmoplantar keratoderma, Ichthyosis, Sparse hair, Fragile nails |
OMIM:242150 |
| Recon Progeroid Syndrome |
|
Progeroid facial appearance, Thrombocytopenia, Hyperconvex thumb nails, Livedo reticularis, Absen... |
OMIM:620370 |
| Rapp-Hodgkin Syndrome |
|
Decreased number of sweat glands, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Spar... |
OMIM:129400 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Failure to thrive in infancy, Redundant skin, Slow-growing hair, Lymphedema, Abnorm... |
ORPHA:1340 |
| Granulomatous Slack Skin |
|
Erythema, Redundant skin, Cutis laxa |
ORPHA:33111 |
| Central Diabetes Insipidus |
|
Anorexia, Dehydration, Weight loss, Polydipsia, Failure to thrive |
ORPHA:178029 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Onychauxis, Dry skin, Small for gestational age, Hypertrichosis |
OMIM:262190 |
| Agel Amyloidosis |
|
Edema, Pruritus, Xerostomia, Cutis laxa, Blepharochalasis, Abnormal spleen morphology, Nail dystr... |
ORPHA:85448 |
| C1Q Deficiency 2 |
|
Chilblains, Discoid lupus rash, Facial erythema, Vasculitis in the skin, Malar rash, Anemia |
OMIM:620321 |
| Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Albinism |
ORPHA:79431 |
| Glutamine Deficiency, Congenital |
|
Neonatal death, Short nose, Erythema, Wide nasal bridge |
OMIM:610015 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate |
ORPHA:141152 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Growth delay, Pallor |
OMIM:613561 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Thrombocytopenia, Premature graying of hair, Ex... |
ORPHA:3322 |
| Auriculocondylar Syndrome 2A |
|
Dental crowding, Narrow mouth, Mandibular condyle aplasia, Dental malocclusion, Cleft palate, Glo... |
OMIM:614669 |
| Transient Neonatal Diabetes Mellitus |
|
Hypothyroidism, Failure to thrive, Small for gestational age, Dehydration |
ORPHA:99886 |
| Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Redundant skin, Polyhydramnios, Concave nail, Hyp... |
ORPHA:3071 |
| Juvenile Dermatomyositis |
|
Alopecia, Palpebral edema, Telangiectasia of the skin, Skin rash, Pruritus, Erythema, Skin ulcer,... |
ORPHA:93672 |
| Ataxia-Telangiectasia |
|
Lymphopenia, Hypopigmentation of hair, Prematurely aged appearance, Telangiectasia of the skin, D... |
ORPHA:100 |
| Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
| 19Q13.11 Microdeletion Syndrome |
|
Cachexia, Supernumerary nipple, Dry skin, Fine hair, Sparse or absent eyelashes, Nail dysplasia, ... |
ORPHA:217346 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Highly arched eyebrow, Aggressive behavior, Low anterior hairline, Hirsutism, Woolly hair, Dry sk... |
OMIM:619244 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Wide nasal bridge, Skin ulcer, Fine hair, Nail pits, ... |
ORPHA:978 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy |
OMIM:614876 |
| Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... |
ORPHA:182 |
| Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis, Erythroderma |
OMIM:133190 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Scaling skin, Periungual erythema, Atrichia, Dystrophic fingernails, Sub... |
OMIM:308205 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Dehydration, Dysphagia |
OMIM:618958 |
| Methylmalonic Acidemia With Homocystinuria, Type Cbld |
|
Pallor |
ORPHA:79283 |
| Squalene Synthase Deficiency |
|
Cutaneous photosensitivity, Dry skin, Failure to thrive in infancy, Abnormality of hair pigmentation |
OMIM:618156 |
| Peripheral Cone Dystrophy |
|
Pallor |
OMIM:609021 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Eczema, Aggressive behavior, Sparse medial eyebrow, ... |
OMIM:601358 |
| Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Skin rash, Epidermal acanthosis, Pustule, Joint swelling, Hyperkeratosis |
OMIM:612852 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Decreased circulating T4 concentration, Dry skin, Hypothyroidism |
OMIM:275100 |
| Mycosis Fungoides |
|
Pruritus, Erythema, Eczema, Psoriasiform dermatitis |
OMIM:254400 |
| Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Scleroderma, Alopecia, Onycholysis |
OMIM:176100 |
| Noonan Syndrome 14 |
|
Curly hair, Lymphopenia, Polyhydramnios, Sparse eyebrow, Low posterior hairline, Hyperhidrosis, S... |
OMIM:619745 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
| Xeroderma Pigmentosum Variant |
|
Cutaneous photosensitivity, Dry skin, Telangiectasia |
ORPHA:90342 |
| Cone-Rod Dystrophy 11 |
|
Pallor |
OMIM:610381 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail |
OMIM:302000 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Supernumerary nipple, Polyhydramnios, Fine hair, Hypohidrosis, Aplastic/hypoplastic toenail, Shor... |
ORPHA:1812 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Reduced subcutaneous adipose tissue, Sparse eyelashes, Sparse eyebrow, Wide nasal bridge, Dry ski... |
OMIM:613026 |
| Immunodeficiency 23 |
|
Hemolytic anemia, Lymphopenia, Abscess, Eosinophilia, Eczema, Erythema, Increased circulating IgE... |
OMIM:615816 |
| Beta-Ketothiolase Deficiency |
|
Edema, Anorexia, Leukocytosis, Dehydration, Weight loss, Agitation, Pallor, Oral aversion, Thromb... |
ORPHA:134 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Palmoplant... |
OMIM:194300 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Pancytopenia, Aplastic anemia, Fine hair, Premature graying of hair, Leukopenia, Bone m... |
OMIM:613990 |
| Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Dehydration |
OMIM:251850 |
| Ddost-Cdg |
|
Failure to thrive, Dry skin, Primary hypothyroidism |
ORPHA:300536 |
| Incontinentia Pigmenti |
|
Alopecia, Telangiectasia of the skin, Eosinophilia, Supernumerary nipple, Skin rash, Abnormal hai... |
ORPHA:464 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Anemia, Failure to thrive, Dehydration |
ORPHA:28 |
| Tangier Disease |
|
Splenomegaly, Dry skin, Nail dystrophy, Nail dysplasia |
OMIM:205400 |
| Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Pancytopenia, Small for gestational age, Refractory sideroblastic anemia, A... |
OMIM:557000 |
| Sunct Syndrome |
|
Restlessness, Palpebral edema, Facial edema, Episodic hyperhidrosis, Facial erythema, Hyperhidros... |
ORPHA:57145 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Dry skin |
OMIM:268020 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Trichiasis, Hypohidrosis, Ectodermal dysplasia, Hyperkeratosis, Nail dysplasia, T... |
OMIM:601701 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Pruritus, Anonychia, Palmoplantar keratoderma, Nail dystrophy, Sm... |
ORPHA:79410 |
| Polyarteritis Nodosa |
|
Erythema, Cutis marmorata, Skin ulcer, Weight loss |
ORPHA:767 |
| Diffuse Cutaneous Mastocytosis |
|
Pruritus, Thickened skin, Scaling skin, Erythroderma, Peau d'orange |
ORPHA:79456 |
| X-Linked Sideroblastic Anemia |
|
Elevated hepatic transaminase, Splenomegaly, Pallor |
ORPHA:75563 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Hyperkeratosis, Ichthyosis, Sparse hair, Abnormal toenail morphology |
ORPHA:1005 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Eosinophilia, Chronic mucocutaneous candidiasis, Coarse hair, Nail dystrophy, Follicula... |
OMIM:158310 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Recurrent skin infections, Erythema, Onychogryposis, Decreased circulating antibody lev... |
ORPHA:79396 |
| Pyruvate Kinase Deficiency Of Red Cells |
|
Hepatomegaly, Splenomegaly, Jaundice, Cholecystitis, Pallor, Cholelithiasis, Intrauterine growth ... |
OMIM:266200 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Redundant skin, Abnormality of hair texture, Cutis laxa, Excessive wrinkled skin, C... |
OMIM:219200 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Short stature, Pallor |
ORPHA:2786 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Dry skin, Obesity |
ORPHA:3085 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Dry skin, Obesity |
ORPHA:1035 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Hyperkeratosis with erythema, Coarse hair |
OMIM:118650 |
| Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Dry skin, Nail pits, E... |
OMIM:103285 |
| Subcorneal Pustular Dermatosis |
|
Hyperthyroidism, Pruritus, Pustule, Erythema, Increased circulating antibody level, Hypothyroidism |
ORPHA:48377 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Anhidrosis, Brittle hair, Absent nipple, Sparse eyelashes, Eczema, Concave nail, ... |
OMIM:305100 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Nail dystrophy, Nail pits |
OMIM:601705 |
| Fontaine Progeroid Syndrome |
|
Redundant skin, Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Death in infancy, ... |
OMIM:612289 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Palmoplantar hyperhidrosis, Pal... |
OMIM:150400 |
| Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:289504 |
| Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
| Short Syndrome |
|
Premature skin wrinkling, Small for gestational age, Wide nasal bridge, Prominent superficial veins |
OMIM:269880 |
| Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Edema, Sparse eyebrow, Low posterior hairline, Hyperkeratosis,... |
OMIM:604173 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Impulsivity, Compulsive behaviors, Dysphagia, Violent behavior |
ORPHA:216873 |
| Adult-Onset Still Disease |
|
Neutrophilia, Skin rash, Pruritus, Splenomegaly, Leukocytosis, Erythema, Joint swelling, Bone mar... |
ORPHA:829 |
| 9P13 Microdeletion Syndrome |
|
Hyperconvex nail, Highly arched eyebrow, Hypoplastic toenails, Wide nasal bridge, Attention defic... |
ORPHA:324313 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Skin rash, Eosinophilia, Pustule, Angioedema, Erythema, Thyroiditis, Weight loss, Lymphocytosis, ... |
ORPHA:139402 |
| Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Cleft palate |
ORPHA:1388 |
| Lactase Deficiency, Congenital |
|
Dehydration |
OMIM:223000 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Overweight, Widow's peak, Obesity, Stereotypical hand wringing, Death in adolescence, Dysphagia, ... |
OMIM:619229 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Hyperactivity, Failure to thrive in infancy, Thrombocytopenia, Tongue thrusting, Self-injurious b... |
ORPHA:261323 |
| Oliver-Mcfarlane Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Long eyebrows |
OMIM:275400 |
| Aicardi-Goutieres Syndrome 1 |
|
Chilblains, Thrombocytopenia, Splenomegaly, Erythema, Prolonged neonatal jaundice, Acrocyanosis, ... |
OMIM:225750 |
| Tempi Syndrome |
|
Transudative pleural effusion, Telangiectasia, Facial erythema, Increased circulating IgG level, ... |
ORPHA:284227 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Aged leonine appearance, Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis |
OMIM:227260 |
| Fountain Syndrome |
|
Cutis marmorata, Facial edema, Synophrys, Erythema, Thick eyebrow |
ORPHA:3219 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Psoriasiform dermatitis, Eczema, Erythroderma, Patchy alopecia, Scaling skin, Chronic oral candid... |
OMIM:606367 |
| Optic Atrophy 1 |
|
Pallor |
OMIM:165500 |
| Xeroderma Pigmentosum, Complementation Group F |
|
Cutaneous photosensitivity, Erythema, Decreased body weight |
OMIM:278760 |
| Thyroid Dyshormonogenesis 1 |
|
Dry skin, Hypothyroidism |
OMIM:274400 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Narrow mouth, Cheilitis, Esophageal web,... |
ORPHA:54028 |
| Acute Peripheral Arterial Occlusion |
|
Pallor |
ORPHA:90064 |
| Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Hyperhidrosis, Dysphagia, Sparse hair, Premature skin wrinkling, Short nose, Ol... |
OMIM:601559 |
| Hennekam-Beemer Syndrome |
|
Telangiectasia of the skin, Mastocytosis, Long nose, Pruritus, Erythema, Wide nasal bridge, Urtic... |
ORPHA:2135 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Chronic monilial nail ... |
ORPHA:294023 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
| Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Decreased circulating total IgM, Decreased proportion of class-switched memory B cells, Erythema,... |
OMIM:614878 |
| Autosomal Agammaglobulinemia |
|
Skin rash, Recurrent skin infections, Dehydration, Agammaglobulinemia, Neutropenia, Failure to th... |
ORPHA:33110 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Ichthyosis, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
| Ifap Syndrome 2 |
|
Sparse hair, Atrichia, Nail dystrophy, Perioral erythema |
OMIM:619016 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Dysphagia |
ORPHA:496689 |
| Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
|
Abnormality of thyroid physiology, Prolonged neonatal jaundice, Decreased circulating T4 concentr... |
ORPHA:95715 |
| Immunoglobulin A Vasculitis |
|
Skin rash, Edema, Anorexia, Orchitis, Pustule, Angioedema, Erythema, Skin ulcer, Urticaria, Bruis... |
ORPHA:761 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Seborrheic dermatitis, Patent ductus arteriosus, Erythema, Palmoplantar hyperkera... |
OMIM:259100 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Patent ductus arteriosus, Wide nasal bridge, Fine hair, Anemia, Truncal obesity, Attention defici... |
ORPHA:2637 |
| Interstitial Granulomatous Dermatitis With Arthritis |
|
Pruritus, Inflammatory abnormality of the skin, Erythema |
ORPHA:79099 |
| Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Acute pancreatitis, Chilblains, Edema, Pericardial effusion, Dry skin, Weight l... |
OMIM:619487 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Low anterior hairline, Horizontal eyebrow, High anterior hairline, Dry skin, Thick eyebrow |
OMIM:618797 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Decreased adipose tissue around neck, Sma... |
OMIM:606721 |
| Mpdu1-Cdg |
|
Scaling skin, Eczema, Ichthyosis |
ORPHA:79323 |
| Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash |
ORPHA:398124 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair, Ichthyosis |
ORPHA:91132 |
| Rothmund-Thomson Syndrome Type 2 |
|
Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Aplastic anemia, Facial edem... |
ORPHA:221016 |
| Dermatomyositis |
|
Abnormal hair quantity, Abnormal eosinophil morphology, Telangiectasia of the skin, Edema, Perior... |
ORPHA:221 |
| Propionic Acidemia |
|
Pancytopenia, Eczema, Thrombocytopenia, Dehydration, Neutropenia, Failure to thrive, Pancreatitis... |
OMIM:606054 |
| Beta-Thalassemia |
|
Hepatomegaly, Splenomegaly, Hepatitis, Skin ulcer, Pallor, Cholelithiasis |
ORPHA:848 |
| Nodular Non-Suppurative Panniculitis |
|
Splenomegaly, Erythema, Edema, Weight loss |
ORPHA:33577 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Redundant neck skin, Redundant skin, Thick hair, Abnormal subcutaneous fat tissue distribution, P... |
ORPHA:357074 |
| Hemoglobin D Disease |
|
Splenomegaly, Pallor |
ORPHA:90039 |
| Benign Paroxysmal Torticollis Of Infancy |
|
Pallor |
ORPHA:71518 |
| Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Splenomegaly, Growth delay, Pallor, Elevated hepatic iron concentration |
OMIM:615234 |
| Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Large for gestational age, Congenital hypothyroidism, Prolonged neonatal jaundice, Decreased circ... |
ORPHA:226313 |
| Syndromic Diarrhea |
|
Lymphopenia, Hypopigmentation of hair, Brittle hair, Small for gestational age, Thrombocytosis, I... |
ORPHA:84064 |
| Alternating Hemiplegia Of Childhood |
|
Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, Dehydration, Hyperhidrosis... |
ORPHA:2131 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Acute pancreatitis, Edema, Anorexia, Jaundice, Leukocytosis, Dehydration, Weight loss, Leukopenia... |
ORPHA:20 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
| Kikuchi-Fujimoto Disease |
|
Alopecia, Palpebral edema, Skin rash, Anorexia, Pruritus, Thrombocytopenia, Splenomegaly, Erythem... |
ORPHA:50918 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Hirsutism |
OMIM:604931 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Nail dystrophy, Small nail, Sclerodactyly |
OMIM:610644 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Frontal upsweep of hair, Broad eyebrow |
OMIM:301220 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
| Hereditary Acrokeratotic Poikiloderma |
|
Telangiectasia of the skin, Eczema, Pustule, Erythema, Xerostomia, Skin ulcer, Palmoplantar hyper... |
ORPHA:2907 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Psoriasiform lesion, Eczema, Seborrheic dermatitis, Chroni... |
OMIM:618131 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Prematurely aged appearance, Cachexia, Dry skin, Death in adolescence, Cutaneo... |
OMIM:610965 |
| Isovaleric Acidemia |
|
Pancytopenia, Dehydration, Leukopenia, Bone marrow hypocellularity, Thrombocytopenia |
OMIM:243500 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Premature skin wrinkling, Cutis laxa, Dermal translucency |
OMIM:616603 |
| Fixed Drug Eruption |
|
Erythema, Generalized abnormality of skin, Crusting erythematous dermatitis |
ORPHA:293812 |
| Barber-Say Syndrome |
|
Absent nipple, Sparse eyelashes, Redundant skin, Sparse eyebrow, Low anterior hairline, Hypertric... |
OMIM:209885 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Palmoplantar hyperkeratosis, Dystrophic toenail, Nail... |
ORPHA:3253 |
| Werner Syndrome |
|
Sparse scalp hair, Prematurely aged appearance, Telangiectasia of the skin, Miscarriage, Abnormal... |
ORPHA:902 |
| Acquired Partial Lipodystrophy |
|
Lymphocytosis, Generalized hirsutism, Progeroid facial appearance |
ORPHA:79087 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Macrocytic anemia, Thrombocytopenia, Dehydration, Leukopenia, Pancreatitis, Anemia |
ORPHA:27 |
| Rothmund-Thomson Syndrome Type 1 |
|
Plantar hyperkeratosis, Small for gestational age, Alopecia totalis, Aplastic anemia, Facial edem... |
ORPHA:221008 |
| Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Congenital exfoliative erythroderma, Brittle hair, Prematurely ag... |
ORPHA:33364 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture, Wide nasal bridge, Dry skin, Hypothyroidis... |
ORPHA:96169 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Abnormality of ... |
ORPHA:129 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Sparse axillary hair, Reduced circulating prolactin concent... |
ORPHA:91355 |
| Arthrogryposis Multiplex Congenita 5 |
|
Normocytic anemia, Death in infancy, Polyhydramnios, Acanthocytosis, Wide nasal bridge, Poikilocy... |
OMIM:618947 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Anhidrosis, Small for gestational age, Eczema, Thin nail, Aggressive behavior, Bruxism, Neutropen... |
OMIM:617799 |
| Fg Syndrome Type 1 |
|
Facial wrinkling, Frontal upsweep of hair, Compulsive behaviors, Attention deficit hyperactivity ... |
ORPHA:93932 |
| Donohue Syndrome |
|
Acanthosis nigricans, Hyperkeratosis, Nail dysplasia, Hypertrichosis |
OMIM:246200 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Lumbar hypertrichosis, Recurrent cutaneous abscess formation, Aggressive behavior, Abnormal hair ... |
ORPHA:163956 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hyperkeratosis |
ORPHA:163966 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum, Anemia, Cystic acne, Acne inversa |
OMIM:608068 |
| Geroderma Osteodysplasticum |
|
Premature skin wrinkling, Neonatal wrinkled skin of hands and feet, Progeroid facial appearance, ... |
OMIM:231070 |
| Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Focal pancreatic islet hyperplasia, Hepatomegaly |
ORPHA:276575 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Anhidrosis, Anhidrotic ectodermal dysplasia, Splenomegaly, Dry skin, Hypohidro... |
OMIM:612132 |
| Breath-Holding Spells |
|
Pallor |
OMIM:607578 |
| Ameloonychohypohidrotic Syndrome |
|
Seborrheic dermatitis, Dry skin, Onycholysis, Hypohidrosis |
OMIM:104570 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Small for gestational age, Jaundice, Dehydration, Failure to thrive, Thrombocyt... |
OMIM:208085 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Palpebral edema... |
ORPHA:69735 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
| Koolen-De Vries Syndrome |
|
Failure to thrive, Hyperactivity, Small for gestational age, Eczema, Impulsivity, Abnormality of ... |
OMIM:610443 |
| Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Bifid uvula, Cleft palate |
ORPHA:2521 |
| Bloom Syndrome |
|
Decreased circulating IgG level, Small for gestational age, Elevated hemoglobin A1c, Decreased ci... |
OMIM:210900 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Brittle hair, Slow-growing hair, Cutis marmorata, Progeroid facial appearance, Sparse eyebrow, Ch... |
OMIM:300953 |
| Hyperinsulinism Due To Ucp2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276556 |
| Restrictive Dermopathy |
|
Short nail, Polyhydramnios, Epidermal hyperkeratosis, Sparse eyebrow, Aplasia/Hypoplastia of the ... |
ORPHA:1662 |
| Leber Congenital Amaurosis 14 |
|
Pallor |
OMIM:613341 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Edema, Lymphedema, Abnormal eyelash morphology, Abnormal hair morphology, Wide nasa... |
ORPHA:2526 |
| Epidermodysplasia Verruciformis, Susceptibility To, 4 |
|
Increased proportion of exhausted T cells, Facial erythema |
OMIM:618307 |
| Kcnq2-Related Epileptic Encephalopathy |
|
Pallor, Cerebral edema, Facial erythema |
ORPHA:439218 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes |
ORPHA:3363 |
| Wolcott-Rallison Syndrome |
|
Jaundice, Neutropenia, Dehydration, Central hypothyroidism, Iron deficiency anemia, Lymphocytosis... |
ORPHA:1667 |
| Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Pancreatic islet-cell hyperplasia, Pallor |
ORPHA:276608 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Increased circulating IgA level, Erythema, Urticaria, Acrocyanosis, Purpura |
ORPHA:343 |
| Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Dehydration, Weight loss |
OMIM:143880 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Small for gestational age, Sparse facial hair, Sparse axillary hair, Progeroid facial appearance,... |
OMIM:608154 |
| Short Syndrome |
|
Alopecia, Wide nasal bridge, Weight loss, Excessive wrinkled skin, Sparse hair |
ORPHA:3163 |
| Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
| Toxic Epidermal Necrolysis |
|
Acantholysis, Thrombocytopenia, Erythema, Skin ulcer, Weight loss, Dysphagia, Neutropenia, Polydi... |
ORPHA:537 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Ichthyosis, Alopecia, Erythroderma |
OMIM:618840 |
| Fucosidosis |
|
Anhidrosis, Petechiae, Angiokeratoma, Splenomegaly, Vacuolated lymphocytes, Bruising susceptibili... |
OMIM:230000 |
| Eec Syndrome |
|
Slow-growing hair, Decreased response to growth hormone stimulation test, Sparse eyebrow, Xerosto... |
ORPHA:1896 |
| Hypoglossia With Situs Inversus |
|
Microglossia, High palate, Hypodontia, Narrow mouth |
OMIM:612776 |
| Peroxisome Biogenesis Disorder 14B |
|
Dry skin |
OMIM:614920 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration, Leukopenia, Neutropenia, Failure to thrive, Pancreatitis, Thrombocytopenia |
OMIM:251000 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Telangiectasia of the skin, Erythema, Dry skin, Telangiect... |
ORPHA:910 |
| Angioedema, Hereditary, 1 |
|
Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal edema, Angioedema, Erythema |
OMIM:106100 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Premature skin wrinklin... |
ORPHA:363618 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Acute Adrenal Insufficiency |
|
Normocytic anemia, Decreased circulating cortisol level, Salt craving, Sparse axillary hair, Anor... |
ORPHA:95409 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Psoriasiform lesion, Eosinophilia, Erythroderma |
ORPHA:169154 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Alopecia, Erythema, Hyperkeratosis, Stillbirth, Small nail, Orthokeratosis |
OMIM:308050 |
| Late-Onset Isolated Acth Deficiency |
|
Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Macrocytic anemia, E... |
ORPHA:199299 |
| Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Overweight, Pituitary hypothyroidism, Decreased circ... |
ORPHA:99832 |
| Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Diffuse pancreatic islet hyperplasia, Pallor, Hepatomegaly |
ORPHA:276580 |
| Cranioectodermal Dysplasia 3 |
|
Short nail, Broad nail, Fine hair, Cutis laxa, Ectodermal dysplasia, Sparse hair, Dry skin |
OMIM:614099 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Pancytopenia, Skin rash, Aggressive behavior, Erythema, Death in childhood, Cerebral edema |
OMIM:618321 |
| Leishmaniasis |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Skin ulcer, Pallor |
ORPHA:507 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail |
ORPHA:1882 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Small for gestational age, Highly arched eyebrow, Elevated circulating luteiniz... |
OMIM:618419 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Prominent superficial veins, Sparse eyelashes, Progeroid facial appe... |
OMIM:614008 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Prematurely aged appearance, Skin rash, Cachexia, Dry skin, Urticaria, Cutaneous photosensitivity |
ORPHA:220295 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Death in adolescence, Dehydration, Death in childhood |
OMIM:560000 |
| Hb Bart'S Hydrops Fetalis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:163596 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Ichthyosis |
OMIM:242510 |
| Dubowitz Syndrome |
|
Hypoparathyroidism, Sparse scalp hair, Cutis marmorata, Eczema, Abnormality of neutrophils, Abnor... |
ORPHA:235 |
| Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
| Restrictive Dermopathy 1 |
|
Sparse eyelashes, Short nail, Polyhydramnios, Epidermal hyperkeratosis, Absent eyelashes, Sparse ... |
OMIM:275210 |
| Cystinosis |
|
Hypothyroidism, Dehydration, Polydipsia, Failure to thrive, Abnormal repetitive mannerisms |
ORPHA:213 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Pseudohypoaldosteronism, Failure to thrive, Hyperaldosteronism, Dehydration |
OMIM:264350 |
| Shigellosis |
|
Failure to thrive in infancy, Abscess, Anorexia, Leukocytosis, Dehydration, Urticaria, Microangio... |
ORPHA:810 |
| Proteasome-Associated Autoinflammatory Syndrome 4 |
|
Splenomegaly, Autoimmune hemolytic anemia, Erythema, Edema |
OMIM:619183 |
| Beta-Thalassemia Intermedia |
|
Hepatomegaly, Hepatocellular carcinoma, Splenomegaly, Jaundice, Skin ulcer, Hepatosplenomegaly, A... |
ORPHA:231222 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Prominent superficial veins, Fine hair, Cutis laxa, Excessive wrinkled skin, Sparse hair, Dermal ... |
OMIM:614438 |
| Whistling Face Syndrome, Recessive Form |
|
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia |
OMIM:277720 |
| Vipoma |
|
Elevated circulating growth hormone concentration, Anorexia, Increased circulating gonadotropin l... |
ORPHA:97282 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
| Secondary Short Bowel Syndrome |
|
Dehydration, Central hypothyroidism, Weight loss, Primary hypothyroidism, Failure to thrive, Poly... |
ORPHA:95427 |
| Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Thick hair, Onychauxis, Low anterior hairline, Premature gra... |
ORPHA:769 |
| Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
| Primary Myelofibrosis |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Hepatosplenomegaly, Pallor, Ecchymosis, Petechia... |
ORPHA:824 |
| Optic Atrophy 7 With Or Without Auditory Neuropathy |
|
Pallor |
OMIM:612989 |
| Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu... |
OMIM:609242 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Excessive wrinkled skin, Thick hair, Progeroid facial appearance |
ORPHA:357058 |
| Lipodystrophy-Intellectual Disability-Deafness Syndrome |
|
Progeroid facial appearance, Failure to thrive, Small for gestational age, Slender build |
ORPHA:50811 |
| Sialidosis Type 1 |
|
Hyperkeratosis |
ORPHA:812 |
| Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis |
ORPHA:2583 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Glucocortocoid-insensitive primary hyperaldosteronism, Pustule, Ato... |
ORPHA:171876 |
| Acute Myelomonocytic Leukemia |
|
Pallor |
ORPHA:517 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy, Dysphagia |
OMIM:158900 |
| Primary Lateral Sclerosis, Juvenile |
|
Pallor |
OMIM:606353 |
| Cold Agglutinin Disease |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:56425 |
| Cutis Laxa, Autosomal Recessive, Type Iib |
|
Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Fa... |
OMIM:612940 |
| Hyperinsulinism Due To Hnf1A Deficiency |
|
Hepatomegaly, Pallor |
ORPHA:324575 |
| Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Dehydration |
OMIM:212140 |
| Familial Focal Epilepsy With Variable Foci |
|
Pallor |
ORPHA:98820 |
| Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Pilomatrixoma |
OMIM:620189 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Edema, Weight loss |
ORPHA:103910 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dysplasia, Erysipelas |
OMIM:615704 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
| Rheumatic Fever |
|
Erythema, Pallor, Anorexia |
ORPHA:3099 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
| Microscopic Polyangiitis |
|
Cutis marmorata, Skin rash, Erythema, Skin ulcer, Pancreatitis, Subcutaneous hemorrhage |
ORPHA:727 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Lymphopenia, Eczema, Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Bone mar... |
ORPHA:508542 |
| Evans Syndrome |
|
Jaundice, Pallor, Petechiae |
ORPHA:1959 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Dystrophic toenail, P... |
ORPHA:2930 |
| Gaucher Disease, Perinatal Lethal |
|
Nonimmune hydrops fetalis, Polyhydramnios, Hyperkeratosis, Congenital nonbullous ichthyosiform er... |
OMIM:608013 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Splenomegaly, Jaundice, Low anterior hairline, Excessive wrinkled skin, Short n... |
OMIM:608779 |
| Ogden Syndrome |
|
Redundant neck skin, Redundant skin, Lymphedema, Iron deficiency anemia, Polycythemia, Abnormal r... |
OMIM:300855 |
| Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Small for gestational age, Prematurely... |
OMIM:133540 |
| Hydroxykynureninuria |
|
Dry skin, Abnormal repetitive mannerisms |
ORPHA:79155 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Failure to thrive, Dehydration |
OMIM:602722 |
| Isolated Thyroid-Stimulating Hormone Deficiency |
|
Facial edema, Pituitary hypothyroidism, Dry skin, Attention deficit hyperactivity disorder, Prolo... |
ORPHA:90674 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
| Porphyria Cutanea Tarda |
|
Recurrent bacterial skin infections, Cutaneous abscess, Scaling skin, Hirsutism, Hypertrichosis |
ORPHA:101330 |
| Stevens-Johnson Syndrome |
|
Abnormality of neutrophils, Acantholysis, Thrombocytopenia, Erythema, Weight loss, Dysphagia, Pan... |
ORPHA:36426 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Dry skin, Obesity, Hypohidrosis |
ORPHA:3157 |
| Hypoglossia-Hypodactylia |
|
Microglossia, Aglossia, Narrow mouth |
OMIM:103300 |
| Addison Disease |
|
Hypoparathyroidism, Normocytic anemia, Decreased circulating cortisol level, Salt craving, Sparse... |
ORPHA:85138 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Dehydration |
OMIM:203400 |
| Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Narrow mouth, Mandibular condyle aplasia, Dental malocclusi... |
ORPHA:137888 |
| Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
|
Hepatomegaly, Jaundice, Pallor |
OMIM:613839 |
| Refsum Disease |
|
Splenomegaly, Dry skin, Nail dysplasia |
ORPHA:773 |
| Cyclic Vomiting Syndrome |
|
Growth delay, Pallor |
OMIM:500007 |
| Senior-Loken Syndrome 8 |
|
Pancreatic cysts, Polydactyly, Pallor, Intrahepatic bile duct dilatation, Hepatic cysts |
OMIM:616307 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Hyperkeratosis, Lymphedema |
ORPHA:79280 |
| Immunodeficiency 55 |
|
Absent natural killer cells, Recurrent skin infections, Eczema, Dry skin, Neutropenia, Lymphopenia |
OMIM:617827 |
| Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia |
|
Short stature, Pallor, Hepatosplenomegaly |
OMIM:611590 |
| Alg11-Cdg |
|
Failure to thrive, Dry skin |
ORPHA:280071 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
ORPHA:337 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Predominantly lower limb lymphedema, Nonimmune hydro... |
OMIM:607823 |
| Uremic Pruritus |
|
Inflammatory abnormality of the skin, Recurrent skin infections, Pruritus, Dry skin, Generalized ... |
ORPHA:94059 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Failure to thrive, Decreased circulating aldosterone level, Dehydration |
OMIM:610600 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition |
ORPHA:1387 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Pseudohypoaldosteronism, Failure to thrive, Hyperaldosteronism, Dehydration |
OMIM:177735 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Progeroid facial appearance, Sparse eyebrow, Wide nasal brid... |
ORPHA:75496 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Absent eyebrow, Alopecia, Small for gesta... |
OMIM:264090 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Hyperactivity, Small for gestational age, Sparse eyelashes, Sparse eyebrow, Fi... |
OMIM:234100 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Short stature, Pallor |
ORPHA:49827 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Downturned corners of mouth, Lobulated tongue, Short philtrum, Abnormal... |
OMIM:613443 |
| Noonan Syndrome 10 |
|
Curly hair, Sparse eyebrow, Increased nuchal translucency, Hyperkeratosis, Palmoplantar cutis lax... |
OMIM:616564 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Narrow palate, Self-injur... |
ORPHA:313892 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
| Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Splenomegaly, Jaundice, Hepatitis, Pallor, Cholelithiasis |
OMIM:194380 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Eczema, Dry skin, Abnormality of the nail |
ORPHA:428 |
| Early-Onset Familial Hypoaldosteronism |
|
Failure to thrive, Elevated serum 11-deoxycortisol, Dehydration, Decreased circulating aldosteron... |
ORPHA:556030 |
| Opitz-Kaveggia Syndrome |
|
Facial wrinkling, Fine hair, Frontal upsweep of hair, Attention deficit hyperactivity disorder, S... |
OMIM:305450 |
| Noonan Syndrome 2 |
|
Curly hair, Polyhydramnios, Sparse eyebrow, Increased nuchal translucency, Low posterior hairline... |
OMIM:605275 |
| Chime Syndrome |
|
Erythema, Skin ulcer, Acute leukemia, Fine hair, Hyperkeratosis, Sparse hair |
ORPHA:3474 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Dehydration, Adrenocorticotropic hormone excess, Failure to... |
ORPHA:90791 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Pyoderma gangrenosum, Recurrent skin infections |
OMIM:616576 |
| Thanatophoric Dysplasia Type 1 |
|
Redundant skin, Polyhydramnios, Patent ductus arteriosus, Increased nuchal translucency, Excessiv... |
ORPHA:1860 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Pancytopenia, Poor wound healing, Anorexia, Erythema, Xerostomia, Skin ulcer, Weight lo... |
ORPHA:99921 |
| Behcet Syndrome |
|
Erythema nodosum, Erythema, Patchy alopecia |
OMIM:109650 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Chronic hepatitis, H... |
ORPHA:231226 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Failure to thrive, Dehydration |
OMIM:251120 |
| Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Primary adrenal insufficiency, Dehydration, Adrenal insuffi... |
OMIM:300200 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Eczema, Polyhydramnios, Hyperkeratosis, Loose anagen hair, Long ey... |
OMIM:607721 |
| Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Redundant skin, Absent eyelashes, Hypoplastic nipples, Sparse hair, Premature ski... |
OMIM:200110 |
| Congenital Heart Block |
|
Intrauterine growth retardation, Pallor |
ORPHA:60041 |
| Keppen-Lubinsky Syndrome |
|
Progeroid facial appearance, Premature skin wrinkling, Failure to thrive, Polyhydramnios |
ORPHA:435628 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Redundant skin, Abnormal hair pattern, Absent eyelashes, Fine hair, Excessive wri... |
ORPHA:920 |
| Localized Scleroderma |
|
Abnormal skin adnexa morphology, Erythema, Patchy alopecia, Hashimoto thyroiditis |
ORPHA:90289 |
| Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Anhidrosis, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Hypohidrotic ectodermal dysplasia, Pe... |
OMIM:224900 |
| Pseudoxanthoma Elasticum |
|
Telangiectasia of the skin, Acne, Skin rash, Pruritus, Lack of skin elasticity, Excessive wrinkle... |
ORPHA:758 |
| Faciocardiomelic Dysplasia, Lethal |
|
Neonatal death, Microglossia, Narrow mouth |
OMIM:227270 |
| Retinitis Pigmentosa 51 |
|
Polydactyly, Pallor |
OMIM:613464 |
| De Barsy Syndrome |
|
Progeroid facial appearance, Patent ductus arteriosus, Prominent veins on trunk, Cutis laxa, Exce... |
ORPHA:2962 |
| Alpha-Heavy Chain Disease |
|
Alopecia, Ascites |
ORPHA:100025 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Sparse axillary hair, Progeroid facial appearance, Increased circulating IgA level, Microcytic an... |
OMIM:256040 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Highly arched eyebrow, Large for gestational age, Wide nasal bridge, Palmoplantar hyperkeratosis,... |
OMIM:280000 |
| Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
| Fucosidosis |
|
Generalized hyperkeratosis, Abnormality of the nail |
ORPHA:349 |
| Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... |
OMIM:258860 |
| Chronic Actinic Dermatitis |
|
Late onset atopic dermatitis, Epidermal acanthosis, Eczema, Pruritus, Erythroderma |
ORPHA:330064 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Alopecia, Ichthyosis |
OMIM:215100 |
| Ramon Syndrome |
|
Hyperkeratosis, Hypertrichosis |
OMIM:266270 |
| Reactive Arthritis |
|
Pustule, Joint swelling, Hyperkeratosis, Dystrophic fingernails, Abnormality of the nail |
ORPHA:29207 |
| Osteootohepatoenteric Syndrome |
|
Pruritus, Dehydration, Weight loss, Prolonged neonatal jaundice, Failure to thrive, Anemia |
OMIM:619377 |
| Riddle Syndrome |
|
Conjunctival telangiectasia, Erythema, Telangiectasia, Weight loss, Decreased circulating total I... |
ORPHA:420741 |
| Myelofibrosis |
|
Splenomegaly, Pallor, Purpura |
OMIM:254450 |
| Helix Syndrome |
|
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis, Polydipsia, Dry skin |
OMIM:617671 |
| Spontaneous Periodic Hypothermia |
|
Pallor |
ORPHA:29822 |
| Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Splenomegaly, Synophrys, Patent ductus arteriosus, Low anterior h... |
ORPHA:955 |
| Hereditary Spherocytosis |
|
Hepatomegaly, Splenomegaly, Jaundice, Skin ulcer, Growth delay, Pallor, Cholelithiasis |
ORPHA:822 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:3226 |
| Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
| Melas |
|
Hypoparathyroidism, Erythema, Recurrent pancreatitis, Failure to thrive, Hypothyroidism, Anemia, ... |
ORPHA:550 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
| Corneodermatoosseous Syndrome |
|
Erythema, Abnormal fingernail morphology, Absent fingernail, Palmoplantar keratoderma |
ORPHA:3194 |
| Chikungunya |
|
Maculopapular exanthema, Skin rash, Facial edema, Pruritus, Erythema nodosum, Erythema, Crusting ... |
ORPHA:324625 |
| Myopathic Ehlers-Danlos Syndrome |
|
Tapered finger, Talipes equinovarus, Pallor, Congenital finger flexion contractures, Adducted thumb |
ORPHA:536516 |
| Beta-Thalassemia Major |
|
Hepatomegaly, Bowing of the long bones, Hypersplenism, Splenomegaly, Jaundice, Skin ulcer, Hepato... |
ORPHA:231214 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Low... |
OMIM:618000 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... |
OMIM:174300 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Fetal ascites, Synophrys, Facial erythema,... |
OMIM:619503 |
| Methylmalonic Aciduria, Cblb Type |
|
Pancytopenia, Thrombocytopenia, Dehydration, Neutropenia, Failure to thrive, Anemia |
OMIM:251110 |
| Bacterial Toxic-Shock Syndrome |
|
Recurrent skin infections, Skin rash, Edema, Scaling skin, Ecchymosis |
ORPHA:36234 |
| Elliptocytosis 1 |
|
Splenomegaly, Jaundice, Pallor |
OMIM:611804 |
| Graft Versus Host Disease |
|
Inflammatory abnormality of the skin, Maculopapular exanthema, Scaling skin |
ORPHA:39812 |
| Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pancreatic islet-cell hyperplasia, Pallor, Increased... |
ORPHA:263455 |
| Cockayne Syndrome |
|
Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Cachexia, Splenomegaly, Malar rash, Fi... |
ORPHA:191 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Palmoplantar keratode... |
OMIM:106260 |
| Glucagonoma |
|
Skin rash, Elevated circulating growth hormone concentration, Necrolytic migratory erythema, Acan... |
ORPHA:97280 |
| Mednik Syndrome |
|
Neonatal death, Death in infancy, Erythema, Death in childhood |
OMIM:609313 |
| Acquired Idiopathic Sideroblastic Anemia |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:75564 |
| Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration |
OMIM:606824 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Eczema, Abnormal eyelash morphology, Abnormal hair mor... |
ORPHA:2273 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Hyperkeratosis, High anterior hairline |
OMIM:615510 |
| Rothmund-Thomson Syndrome |
|
Plantar hyperkeratosis, Porokeratosis, Skin rash, Sparse eyelashes, Alopecia totalis, Facial edem... |
ORPHA:2909 |
| Cholera |
|
Palmoplantar cutis laxa, Miscarriage, Dehydration |
ORPHA:173 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Follicular hyperkeratosis |
OMIM:254090 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Hyperparathyroidism, Death in infancy, Skin ulcer, Dehydration, Fine hair, Joi... |
ORPHA:534 |
| Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Dysphagia, Abnorma... |
ORPHA:2908 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Psoriasiform dermatitis, Sparse eyebrow, Hypohidrosis, Bilateral breast ... |
ORPHA:69085 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:620269 |
| Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Maculopapular exanthema, Skin rash, Anorexia, Aggressive behavior, ... |
ORPHA:99826 |
| Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
| Scalp-Ear-Nipple Syndrome |
|
Palpebral edema, Sparse axillary hair, Sparse pubic hair, Fine hair, Hypohidrosis, Cutaneous phot... |
OMIM:181270 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Open mouth |
OMIM:613604 |
| Systemic Lupus Erythematosus 17 |
|
Alopecia, Malar rash |
OMIM:301080 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
| Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
| Bjornstad Syndrome |
|
Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t... |
OMIM:262000 |
| Leprosy |
|
Absent eyebrow, Alopecia, Loss of eyelashes, Penetrating foot ulcers, Hyperkeratosis, Acral ulcer... |
ORPHA:548 |
| Fanconi Anemia, Complementation Group I |
|
Short stature, Absent thumb, Short thumb, Hypoplasia of the radius, Pallor, Intrauterine growth r... |
OMIM:609053 |
| Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Anhidrosis, Dry hair, Prematurely aged appearance, Progeroid... |
OMIM:216400 |
| Angelman Syndrome Due To A Point Mutation |
|
Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth, Widely spaced teeth, I... |
ORPHA:411511 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Hepatomegaly, Pallor |
OMIM:246450 |
| Bone Marrow Failure Syndrome 3 |
|
Eczema, Hyperkeratosis, Nail dystrophy, Small nail, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
OMIM:617052 |
| Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Prominent superficial blood vessels, Cyanosis, Alopecia totalis, Loss of eyelashe... |
ORPHA:740 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Recurrent skin infections, Edema, Paronychia, Dehydration, Renal tubular epithelial nec... |
ORPHA:79404 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:99931 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration, Leukopenia, Neutropenia, Thrombocytopenia |
OMIM:616271 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Lymphopenia, Cutis marmorata, Erythema nodosum, Thrombocytopenia, Xerostomia, ... |
ORPHA:289390 |
| Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
| Tangier Disease |
|
Hepatosplenomegaly, Anemia, Nail dystrophy, Dry skin, Thrombocytopenia |
ORPHA:31150 |
| Pearson Syndrome |
|
Hypoparathyroidism, Reticulocytosis, Pancytopenia, Small for gestational age, Decreased response ... |
ORPHA:699 |
| Atopic Keratoconjunctivitis |
|
Dry skin, Loss of eyelashes |
ORPHA:163934 |
| Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Bone-marrow foam cells, Hypersplenism, Pruritus, Jaundice, Vacuolate... |
ORPHA:275761 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Polyhydramnios, Absent eyelashes, Atopic dermatiti... |
OMIM:115150 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
| American Trypanosomiasis |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:3386 |
| Wrinkly Skin Syndrome |
|
Redundant skin, Short nail, Progeroid facial appearance, Neonatal wrinkled skin of hands and feet... |
OMIM:278250 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Prematurely aged appearance, Progeroid facial appearance, ... |
ORPHA:90153 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyperaldosteronism, Dehydration |
OMIM:620126 |
| Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Thrombocytopenia, Dehydration, Neutropenia, Failure to thrive, Anemia |
OMIM:251100 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Small for gestational age, Lack of facial subcutaneous fat, Prematurely aged appearance... |
ORPHA:2959 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia |
OMIM:203550 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyperaldosteronism, Dehydration |
OMIM:620125 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Death in infancy, Sparse eyelashes, Sparse eyebrow, Dry skin, Fine hair, Death... |
OMIM:210710 |
| Focal Dermal Hypoplasia |
|
Alopecia, Telangiectasia of the skin, Patent ductus arteriosus, Erythema, Abnormality of the nail |
ORPHA:2092 |
| Drug-Induced Autoimmune Hemolytic Anemia |
|
Splenomegaly, Pallor |
ORPHA:90037 |
| Gcgr-Related Hyperglucagonemia |
|
Necrolytic migratory erythema |
ORPHA:438274 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia, Failure to thrive in infancy,... |
OMIM:163950 |
| Wiedemann-Rautenstrauch Syndrome |
|
Reduced subcutaneous adipose tissue, Sparse scalp hair, Prominent scalp veins, Hyperthyroidism, R... |
ORPHA:3455 |
| Familial Tumoral Calcinosis |
|
Splenomegaly, Erythema, Skin rash, Hyperhidrosis |
ORPHA:53715 |
| Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome |
|
Skin rash, Periorbital edema, Orchitis, Leukocytosis, Erythema, Splenomegaly, Bruising susceptibi... |
ORPHA:32960 |
| Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Elevated hepatic transaminase, Hepatosplenomegaly, Growth delay, Pallor, Elevated hepatic iron co... |
ORPHA:300298 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uvula, Unilateral cleft lip, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Cutis laxa |
OMIM:309400 |
| Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Prematurely aged appearance, Palmoplantar hyperkeratosis, Corneal st... |
OMIM:601812 |
| Dravet Syndrome |
|
Pallor, Tibial torsion |
ORPHA:33069 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:35710 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Excessive wrinkled skin |
ORPHA:137608 |
| Rat-Bite Fever |
|
Skin rash, Maculopapular exanthema, Erythema nodosum, Pustule, Scaling skin, Morbilliform rash |
ORPHA:31205 |
| Congenital Tufting Enteropathy |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:92050 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Failure to thrive, Dehydration |
OMIM:615453 |
| Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormal eyelash morpholog... |
ORPHA:1775 |
| Chand Syndrome |
|
Curly hair, Dry skin, Nail dysplasia, Hypohidrosis |
ORPHA:1401 |
| Menkes Disease |
|
Hypopigmentation of hair, Spontaneous hematomas, Prolonged neonatal jaundice, Sparse hair, Woolly... |
ORPHA:565 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Reduced subcutaneous adipose tissue, Curly hair, Prematurely aged appearance, Impulsivity, Low an... |
OMIM:619950 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, Dry skin, Wide nasal bridge |
OMIM:619306 |
| Lelis Syndrome |
|
Carious teeth, Hypodontia, Palmoplantar hyperkeratosis, Furrowed tongue |
ORPHA:140936 |
| Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent eyelashes, Anonychia, Small... |
OMIM:263650 |
| Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... |
OMIM:616367 |
| Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Wide nasal bridge, Coarse hair, Sparse hair, Dry skin, Exocrine pancreati... |
ORPHA:2750 |
| Hypomelanosis Of Ito |
|
Alopecia |
OMIM:300337 |
| Autoimmune Hemolytic Anemia, Warm Type |
|
Splenomegaly, Jaundice, Pallor |
ORPHA:90033 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Glossoptosis, Cleft palate, Aggressive behavior |
OMIM:618356 |
| Sympathetic Ophthalmia |
|
Alopecia, Erythema, Poliosis, Macular edema |
ORPHA:79098 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Aglossia |
OMIM:241310 |
| Hermansky-Pudlak Syndrome |
|
Hyperkeratosis, Thickened skin, Hypopigmentation of hair, Long eyelashes |
ORPHA:79430 |
| Congenital Dyserythropoietic Anemia Type Iii |
|
Elevated hepatic transaminase, Short stature, Pallor |
ORPHA:98870 |
| Familial Mediterranean Fever |
|
Skin rash, Orchitis, Splenomegaly, Erythema, Pedal edema, Ascites, Erysipelas, Pancreatitis |
ORPHA:342 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Failure to thrive, Hyperaldosteronism, Polyhydramnios, Dehydration |
OMIM:214700 |
| Renal Hypoplasia |
|
Polydipsia, Small for gestational age, Dehydration |
ORPHA:93101 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Growth delay, Pallor, Delayed puberty |
OMIM:600462 |
| Colchicine Poisoning |
|
Leukocytosis, Alopecia, Dehydration |
ORPHA:31824 |
| Down Syndrome |
|
Prematurely aged appearance, Obesity, Sparse hair, Short nose, Hypothyroidism, Acute megakaryocyt... |
ORPHA:870 |
| Trisomy 8Q |
|
Non-midline cleft lip, Orofacial cleft, Cleft palate, Abnormal oral frenulum morphology, High pal... |
ORPHA:1752 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Thin eyebrow |
ORPHA:3242 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Alopecia, Decreased adipose tissue around neck, Brittle hair, Prominent... |
OMIM:608612 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Prematurely aged appearance, Progeroid facial appearance, Abnormal hair morphology, Nai... |
ORPHA:90154 |
| Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Prematurely aged appearance, Redundant skin, Cutis laxa, Premature skin wrin... |
ORPHA:90348 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Anhidrosis, Nail-biting, Hyperactivity, Abscess, Impulsivity, Self-mutilation, Hyperhidrosis, Ane... |
ORPHA:642 |
| Dend Syndrome |
|
Short nose, Elevated hemoglobin A1c, Dehydration |
ORPHA:79134 |
| Letterer-Siwe Disease |
|
Jaundice, Pallor, Hepatosplenomegaly |
OMIM:246400 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Small nail, Oligohydramnios |
OMIM:614219 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Failure to thrive |
OMIM:143860 |
| Flynn-Aird Syndrome |
|
Alopecia, Skin ulcer |
ORPHA:2047 |
| Acquired Hypertrichosis Lanuginosa |
|
Macroglossia, Glossitis |
ORPHA:2221 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Alopecia, Psoriasiform dermatitis, Eczema |
OMIM:617443 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczema |
OMIM:608118 |
| Macs Syndrome |
|
Alopecia, Palpebral edema, Redundant skin, Sparse eyebrow, Cutis laxa, Ichthyosis, Sparse hair |
OMIM:613075 |
| Cystinosis, Nephropathic |
|
Hypopigmentation of hair, Failure to thrive in infancy, Oral-pharyngeal dysphagia, Splenomegaly, ... |
OMIM:219800 |
| Kawasaki Disease |
|
Abnormality of nail color, Skin rash, Edema, Leukocytosis, Jaundice, Palmoplantar erythema |
ORPHA:2331 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Failure to thrive, Hypertonic dehydration |
OMIM:125800 |
| Joubert Syndrome 18 |
|
Lobulated tongue, Cleft palate |
OMIM:614815 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Failure to thrive, Hypertonic dehydration |
OMIM:304800 |
| Lymphatic Filariasis |
|
Hyperkeratosis, Hypereosinophilia, Predominantly lower limb lymphedema, Lymphedema |
ORPHA:2035 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Erythema, Fine hair, Onycholysis, Nail dystr... |
OMIM:614748 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
| Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis, Pallor |
ORPHA:348 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
| Microsporidiosis |
|
Brain abscess, Cachexia, Anorexia, Lymphadenitis, Abnormality of the spleen, Thyroiditis, Dehydra... |
ORPHA:2552 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Skin vesicle, Hyperconvex fingernails, Alopecia, Hypoplastic fingernail |
ORPHA:257 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Splenomegaly, Dehydration, Oligohydramnios |
OMIM:263200 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Megaloblastic anemia, Jaundice, Hydrops fetalis, Dehydration, Neutropenia, Failure to thrive, Thr... |
ORPHA:79282 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Skin rash, Skin ulcer |
ORPHA:47 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Prominent superficial veins, Prematurely aged appearance, Telan... |
ORPHA:79474 |
| Laron Syndrome |
|
Truncal obesity, Prematurely aged appearance, Hypohidrosis |
ORPHA:633 |
| Non-Functioning Paraganglioma |
|
Pallor |
ORPHA:94080 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Patchy alopecia, Hypothyroidism, Progeroid facial appearance |
OMIM:617763 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Microglossia, Median cleft lip, Cleft palate |
OMIM:241800 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, Thick vermilion bord... |
OMIM:618106 |
| Warburg-Cinotti Syndrome |
|
Poor wound healing, Erythema, Joint swelling, Follicular hyperkeratosis, Sterile abscess |
OMIM:618175 |
| Sepsis In Premature Infants |
|
Hepatomegaly, Splenomegaly, Jaundice, Decreased liver function, Pallor, Petechiae, Purpura |
ORPHA:90051 |
| Chanarin-Dorfman Syndrome |
|
Alopecia, Congenital nonbullous ichthyosiform erythroderma |
OMIM:275630 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Pallor, Hepatosplenomegaly |
ORPHA:331206 |
| Seckel Syndrome 2 |
|
Microdontia, Microglossia |
OMIM:606744 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Nail dystrophy, Alopecia, Congenital abnormal hair pattern, Atrichia |
ORPHA:1867 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth, Widely ... |
ORPHA:98794 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Erythema nodosum, Psoriasiform lesion |
OMIM:614700 |
| Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:276198 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Protruding tongue, Tongue thrusting, Wide mouth, Widely spaced teeth, Dysphagia |
ORPHA:98795 |
| Pyruvate Carboxylase Deficiency |
|
Failure to thrive, Anorexia, Dehydration, Compulsive behaviors, Abnormal temper tantrums, Recurre... |
ORPHA:3008 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Alopecia, Progeroid facial appearance, Dysphagia, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... |
ORPHA:2752 |
| Bresek Syndrome |
|
Alopecia, Ichthyosis |
ORPHA:85284 |
| Agnathia-Otocephaly Complex |
|
Microglossia, Aglossia, Cleft palate, Narrow mouth |
OMIM:202650 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Death in child... |
OMIM:612938 |
| Blau Syndrome |
|
Skin rash, Erythema nodosum, Splenomegaly, Erythema, Xerostomia, Skin ulcer, Joint swelling, Dry ... |
ORPHA:90340 |
| Monosomy 18P |
|
Alopecia, Low posterior hairline, Lymphedema |
ORPHA:1598 |
| Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:614153 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Psoriasiform lesion, Skin rash, Pruritus, Nail pits, Onycholysis, Malar ... |
ORPHA:85436 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Xer... |
OMIM:604292 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia |
ORPHA:88630 |
| Oligomeganephronia |
|
Polydipsia, Small for gestational age, Dehydration |
ORPHA:2260 |
| Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Splenomegaly, Jaundice, Pallor, Prolonged neonatal jaundice |
OMIM:300908 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth |
OMIM:615065 |
| Neuroleptic Malignant Syndrome |
|
Leukocytosis, Dehydration, Hyperhidrosis, Agitation, Dysphagia, Thrombocytosis, Thrombocytopenia |
ORPHA:94093 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili... |
ORPHA:1358 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Palpebral edema, Prematurely aged appearance, Sparse eyebrow, Early b... |
ORPHA:2067 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Miscarriage, Acne, Frontal balding, Primary adrenal insuffi... |
ORPHA:90794 |
| Aicardi-Goutières Syndrome |
|
Cutis marmorata, Chilblains, Neonatal alloimmune thrombocytopenia, Dry skin, Hepatosplenomegaly, ... |
ORPHA:51 |
| Epidermodysplasia Verruciformis, Susceptibility To, 3 |
|
Epidermal acanthosis |
OMIM:618267 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair |
ORPHA:50812 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Coarse hair, Brittle hair, Nail dystrophy |
ORPHA:75389 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia |
OMIM:164180 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Eczema, Perioral eczema |
ORPHA:79242 |
| Mulibrey Nanism |
|
Dental crowding, Dental malocclusion, Hypodontia, Microglossia, Enamel hypoplasia |
OMIM:253250 |
| Scorpion Envenomation |
|
Restlessness, Purpura, Acute pancreatitis, Edema, Erythema, Hyperhidrosis, Pulmonary edema |
ORPHA:466677 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Fine hair, Oligohydramnios |
ORPHA:228390 |
| Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... |
OMIM:252100 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Xer... |
OMIM:129900 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Lethal Faciocardiomelic Dysplasia |
|
Microglossia, Narrow mouth |
ORPHA:1972 |
| Pediatric Systemic Lupus Erythematosus |
|
Alopecia, Skin rash, Edema, Pericardial effusion, Discoid lupus rash, Malar rash, Pleural effusio... |
ORPHA:93552 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue |
ORPHA:2759 |
| Mixed Connective Tissue Disease |
|
Alopecia, Skin rash, Xerostomia, Joint swelling, Scleroderma, Purpura |
ORPHA:809 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Seborrheic dermatitis |
ORPHA:276280 |
| Holzgreve Syndrome |
|
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:2167 |
| Microvillus Inclusion Disease |
|
Pruritus, Dehydration |
ORPHA:2290 |
| Werner Syndrome |
|
Prematurely aged appearance, Elevated hemoglobin A1c, Progeroid facial appearance, Subcutaneous c... |
OMIM:277700 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Dehydration |
ORPHA:69076 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Erythema, Hyperhidrosis |
OMIM:614653 |
| Infantile Nephropathic Cystinosis |
|
Polydipsia, Failure to thrive, Abnormality of thyroid physiology, Dehydration |
ORPHA:411629 |
| Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
| Moebius Syndrome |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Ev... |
ORPHA:570 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Polyhydramnios, Hypoplastic toenai... |
ORPHA:544488 |
| Plague |
|
Chapped lip, Skin rash, Edema, Anorexia, Erythema nodosum, Splenomegaly, Lymphadenitis, Skin ulce... |
ORPHA:707 |
| Hemochromatosis, Type 1 |
|
Alopecia, Pleural effusion, Ascites |
OMIM:235200 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... |
OMIM:615108 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Acne, Hirsutism |
OMIM:615830 |
| Campomelia, Cumming Type |
|
Death in infancy, Prematurely aged appearance, Lymphedema, Hydrops fetalis, Oligohydramnios |
ORPHA:1318 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Abnormality of hair texture, Thickened skin, Synophrys, Hypoplastic sweat glands, Epidermal thick... |
ORPHA:73223 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Narrow palate, Sel... |
OMIM:616078 |
| Omenn Syndrome |
|
Thickened skin, Alopecia, Eosinophilia, Erythroderma |
OMIM:603554 |
| Relapsing Polychondritis |
|
Alopecia, Erythema, Purpura |
ORPHA:728 |
| Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Narrow mouth, Bifid uvula |
ORPHA:1790 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis |
OMIM:175500 |
| Urachal Cyst |
|
Leukocytosis, Erythema, Abscess |
ORPHA:488 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Ichthyosis |
ORPHA:166035 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Follicular hyperkeratosis, Polyhydramnios, Cutis laxa |
OMIM:614557 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Aggressive behavior, Protruding tongue, Persistence of primary teeth, Macroglossia, ... |
OMIM:610253 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Alopecia |
OMIM:615559 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Aggressive behavior, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, T... |
OMIM:212066 |
| Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, H... |
ORPHA:989 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Poor wound healing, Excessive wrinkled skin, Follicular hyperkeratosis, Palmoplantar cutis laxa, ... |
OMIM:225400 |
| Mixed-Type Autoimmune Hemolytic Anemia |
|
Pallor |
ORPHA:90036 |
| 46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Primary adr... |
ORPHA:168558 |
| Johnson Neuroectodermal Syndrome |
|
Sparse hair, Absent eyebrow, Alopecia, Absent eyelashes |
ORPHA:2316 |
| Waldenström Macroglobulinemia |
|
Splenomegaly, Hepatomegaly, Pallor, Purpura |
ORPHA:33226 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating cortisol level, Elevated circulating luteinizing hormone level, Primary adr... |
ORPHA:289548 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polyhydramnios, Anorexia, Polydipsia, Failure to thrive |
ORPHA:223 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:440354 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Pallor |
ORPHA:13 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Eosinophilia, Alopecia, Eczema, Erythroderma |
OMIM:304790 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Abnormality of subcutaneous fat tissue |
ORPHA:1901 |
| Leprechaunism |
|
Facial hypertrichosis, Thickened skin, Hyperkeratosis, Acanthosis nigricans, Hypertrichosis |
ORPHA:508 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia |
ORPHA:1307 |
| Retinitis Pigmentosa 75 |
|
Pallor |
OMIM:617023 |
| Myopathy, Mitochondrial, And Ataxia |
|
Growth delay, Short stature, Pallor |
OMIM:617675 |
| Zollinger-Ellison Syndrome |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Jaundice, Erythema, Weigh... |
ORPHA:913 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Cutis marmorata, Dehydration |
OMIM:259900 |
| Kury-Isidor Syndrome |
|
Alopecia, Hypertrichosis |
OMIM:619762 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal eyelash morphology, Erythema, Wide nasal bridge, Failure to thrive, Abnormality of the nail |
ORPHA:2556 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Leukocytosis, Schistocytosis, Dehydration, Microangiopathic hemolytic anemia, Pa... |
ORPHA:90038 |
| Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Polydipsia, Failure to thrive, Dehydration |
ORPHA:18 |
| Anemia, Sideroblastic, 1 |
|
Anemic pallor |
OMIM:300751 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... |
OMIM:615109 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Anemia, Dehydration |
ORPHA:230 |
| 9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology |
ORPHA:531151 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Epidermal acanthosis, Ecz... |
ORPHA:83617 |
| Mogs-Cdg |
|
Alopecia, Generalized edema, Polyhydramnios, Edema, Long eyelashes, Fair hair, Hirsutism, Pulmona... |
ORPHA:79330 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Redundant skin in infancy, Wide nasal bridge, Cutis laxa, Hyperhidrosis, Hypoh... |
OMIM:150230 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Restlessness, Hyperactivity, Thin upper lip vermilion, Aggressive behavior, Diastema, Furrowed to... |
OMIM:300534 |
| Mandibuloacral Dysplasia |
|
Acanthosis nigricans, Alopecia, Sparse hair, Hypoplastic fingernail |
ORPHA:2457 |
| Scleromyxedema |
|
Abnormality of thyroid physiology, Aged leonine appearance, Pruritus, Paraproteinemia, Dysphagia,... |
ORPHA:167635 |
| Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption |
ORPHA:2116 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal epidermal morphology |
ORPHA:398189 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia |
OMIM:612079 |
| Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
| Juvenile Nephropathic Cystinosis |
|
Polydipsia, Failure to thrive, Hypothyroidism, Dehydration |
ORPHA:411634 |
| Systemic Sclerosis |
|
Alopecia, Recurrent skin infections, Nail bed telangiectasia, Pruritus, Thickened skin, Digital u... |
ORPHA:90291 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Death in childhood, Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:211530 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Pili torti, Trichorrhexis nodosa, Sparse lateral eyebrow |
OMIM:261990 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
| H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Upper eyelid edema, Ichthyosis, S... |
ORPHA:168569 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Highly arched eyebrow, Frontal balding, Synophrys, Patent ductus arteriosus, Truncal obesity, Sel... |
OMIM:612474 |
| Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis, Anorexia |
ORPHA:90045 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Abnormal fingernail morphology, Chronic mucocutaneous candidiasis |
ORPHA:3453 |
| Tay-Sachs Disease |
|
Pallor |
OMIM:272800 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Ascites, Hypoplastic fing... |
ORPHA:974 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia |
OMIM:601853 |
| Cone-Rod Dystrophy 8 |
|
Pallor |
OMIM:605549 |
| Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue |
OMIM:301845 |
| 6Q Terminal Deletion Syndrome |
|
Hyperkeratosis, Low anterior hairline, Highly arched eyebrow |
ORPHA:75857 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Sparse hair, Alopecia, Nail dystrophy |
OMIM:616353 |
| De Sanctis-Cacchione Syndrome |
|
Parakeratosis |
OMIM:278800 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Reduced pancreatic beta cells, Dehydration, Weight loss |
ORPHA:99885 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Scaling skin, Aplasia/Hypoplasia of the eyebrow |
ORPHA:3464 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis |
ORPHA:93346 |
| Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long ph... |
OMIM:618580 |
| Tarp Syndrome |
|
Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Meckel diverticulum |
OMIM:311900 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention deficit hyperact... |
OMIM:619580 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Accessory spleen, Death in infancy, Redundant skin, Progeroid facial appearance, Periorbital edem... |
OMIM:613177 |
| Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hyperparathyroidism, Elevated circulating growth hormone concentration, Erythema, Insulinoma, Inc... |
ORPHA:276152 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... |
OMIM:618874 |
| Angelman Syndrome |
|
Hyperactivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Wide mouth, Self-injurio... |
ORPHA:72 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Splenomegaly, Hepatomegaly, Pallor |
ORPHA:98849 |
| Angelman Syndrome |
|
Hyperactivity, Protruding tongue, Wide mouth, Macroglossia, Widely spaced teeth, Paroxysmal burst... |
OMIM:105830 |
| Wrinkly Skin Syndrome |
|
Excessive skin wrinkling on dorsum of hands and fingers, Prominent veins on trunk, Cutis laxa, Ex... |
ORPHA:2834 |
| Bartter Syndrome, Type 2, Antenatal |
|
Small for gestational age, Polyhydramnios, Dehydration, Hyperaldosteronism, Polydipsia, Failure t... |
OMIM:241200 |
| Noonan Syndrome With Multiple Lentigines |
|
Excessive wrinkled skin, Wide nasal bridge |
ORPHA:500 |
| Geroderma Osteodysplastica |
|
Prematurely aged appearance, Redundant skin |
ORPHA:2078 |
| Bartter Syndrome Type 4 |
|
Small for gestational age, Polyhydramnios, Dehydration, Hyperaldosteronism, Severe failure to thr... |
ORPHA:89938 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... |
OMIM:616449 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Alopecia, Chronic mucocutaneous candidiasis, Nail dystrophy, Chronic oral candidiasis, Alopecia u... |
OMIM:240300 |
| Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Decreased circulating T4 concentration, Dry skin, Hypothyroidism, Congenital hypothyroidism |
OMIM:218700 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Supernumerary nipple |
ORPHA:3224 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
| Orofaciodigital Syndrome I |
|
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo... |
OMIM:311200 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow ... |
OMIM:611209 |
| Seckel Syndrome |
|
Sparse scalp hair, Prematurely aged appearance, Cachexia |
ORPHA:808 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Reduced subcutaneous adipose tissue, Progeroid facial appearance, Pancreatitis, Splenomegaly, Pre... |
ORPHA:280365 |
| Bartter Syndrome, Type 3 |
|
Hyperaldosteronism, Dehydration |
OMIM:607364 |
| Childhood Absence Epilepsy |
|
Pallor |
ORPHA:64280 |
| Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Swelling of proximal interphalangeal joints, Cholangitis, Splenome... |
ORPHA:3260 |
| Fumarase Deficiency |
|
Intrahepatic cholestasis, Hepatic failure, Pallor |
OMIM:606812 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Keutel Syndrome |
|
Alopecia |
ORPHA:85202 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Polyhydramnios, Edema, Sparse eyebrow, Congenital ichthyosiform erythroderma, P... |
OMIM:302960 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Protruding tongue, Stereotypical hand wringing, High palate, Everted lower lip vermilion, Bruxism... |
OMIM:617804 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Skin rash, Trichiasis, Acantholysis, Xerostomia, Skin ulcer... |
ORPHA:95455 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... |
OMIM:158350 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Abnormal hair pattern, Edema |
ORPHA:2315 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Ichthyosis |
OMIM:163200 |
| Bartter Syndrome, Type 1, Antenatal |
|
Hyperparathyroidism, Small for gestational age, Polyhydramnios, Dehydration, Hyperaldosteronism, ... |
OMIM:601678 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Prematurely aged appearance, Redundant skin, Progeroid facial appearance, Poor wound healing, Cut... |
OMIM:123700 |
| Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Dysphagia |
OMIM:617114 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malabsorption, Protruding tongue |
OMIM:242860 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Patent ductus arteriosus, Hypoplastic fingernail, Dehydration, Oligohydramnios |
ORPHA:96191 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the upper lip, Lob... |
OMIM:616300 |
| Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Psoriasiform dermatitis, Alopecia totalis |
OMIM:615577 |
| Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... |
ORPHA:1452 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Eczema, Hyperkeratosis, Ichthyosis, Fair hair |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Alopecia, Eczema, Hyperkeratosis, Ichthyosis, Fair hair |
ORPHA:363958 |
| Icf Syndrome |
|
Macroglossia, Malabsorption, Protruding tongue |
ORPHA:2268 |
| Biotinidase Deficiency |
|
Recurrent skin infections, Alopecia, Skin rash, Seborrheic dermatitis |
OMIM:253260 |
| Alzahrani-Kuwahara Syndrome |
|
Self-mutilation, Dry skin, Eczema |
OMIM:619268 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
| Bartsocas-Papas Syndrome |
|
Hypoplastic toenails, Sparse or absent eyelashes, Alopecia totalis, Aplasia/Hypoplasia of the eye... |
ORPHA:1234 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Redundant skin, Sparse eyebrow, Hypoplastic nipples, Nail dysplasia, ... |
OMIM:230740 |
| Multiple Endocrine Neoplasia Type 1 |
|
Elevated circulating growth hormone concentration, Anorexia, Primary hyperparathyroidism, Insulin... |
ORPHA:652 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Alopecia |
ORPHA:3143 |
| Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Bifid uvula, Cleft palate |
ORPHA:1427 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Pallor |
ORPHA:276621 |
| X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Protruding tongue |
ORPHA:53351 |
| Exercise-Induced Malignant Hyperthermia |
|
Anhidrosis, Dry skin, Thrombocytopenia, Flushing |
ORPHA:466650 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Acne, Hirsutism, Striae distensae |
ORPHA:189427 |
| Orofaciodigital Syndrome Type 6 |
|
Hamartoma of tongue, Cleft palate, Midline notch of upper alveolar ridge, Lobulated tongue, Abnor... |
ORPHA:2754 |
| Ring Chromosome 22 Syndrome |
|
Inappropriate behavior, Thick vermilion border, Protruding tongue |
ORPHA:1446 |
| Fabry Disease |
|
Hyperkeratosis, Lymphedema |
ORPHA:324 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair, Oligohydramnios |
OMIM:613451 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Abnormal fingernail morphology |
ORPHA:1647 |
| Fanconi Anemia, Complementation Group C |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Intrauterine growth retar... |
OMIM:227645 |
| Alstrom Syndrome |
|
Acanthosis nigricans, Alopecia |
OMIM:203800 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Bowing of the long bones, Splenomegaly, Growth delay, Pallor, Abnormal metaphysis m... |
ORPHA:667 |
| Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ... |
OMIM:277170 |
| Cystic Fibrosis |
|
Dehydration, Hepatosplenomegaly, Failure to thrive, Pancreatitis, Exocrine pancreatic insufficiency |
OMIM:219700 |
| Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Short nose, Prematurely aged appearance, Redundant skin |
ORPHA:3342 |
| Raine Syndrome |
|
Natal tooth, Death in infancy, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, ... |
OMIM:259775 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
| Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentiti... |
ORPHA:1507 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Gingival overgrowth, Stereotypical hand wringing, Protruding tongue |
OMIM:619179 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, High palat... |
ORPHA:453499 |
| Diamond-Blackfan Anemia 1 |
|
Short stature, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Hypoplasia of the... |
OMIM:105650 |
| Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... |
ORPHA:193 |
| Immunodeficiency 7 |
|
Patchy alopecia, Hypereosinophilia, Chronic oral candidiasis |
OMIM:615387 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
| Juvenile Sialidosis Type 2 |
|
Gingival overgrowth, Dysphagia, Protruding tongue |
ORPHA:93399 |
| Kinsship Syndrome |
|
Thin upper lip vermilion, Death in infancy, Thick lower lip vermilion, Gingival overgrowth, Downt... |
OMIM:619297 |
| Developmental And Epileptic Encephalopathy 31B |
|
Choking episodes, Gingival overgrowth, Protruding tongue |
OMIM:620352 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Recurrent skin infections, Eczema,... |
ORPHA:37042 |
| Degcags Syndrome |
|
Hepatomegaly, Syndactyly, Toe syndactyly, Short thumb, Preaxial hand polydactyly, Cholestasis, He... |
OMIM:619488 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
| Non-Functioning Pituitary Adenoma |
|
Pallor |
ORPHA:91349 |
| Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Thickened skin, Loss of eyelashes, Scleroderma, Hypertrichosis |
OMIM:263700 |
| Marshall-Smith Syndrome |
|
Open mouth, Gingival overgrowth, Protruding tongue |
ORPHA:561 |
| Adrenoleukodystrophy |
|
Alopecia |
OMIM:300100 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash |
OMIM:253270 |
| Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, Short philtrum, Hig... |
ORPHA:958 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Glossoptosis, Cleft palate |
ORPHA:436003 |
| Prolactinoma |
|
Pallor, Delayed puberty |
ORPHA:2965 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Dysphagia, Microglossia |
OMIM:254940 |
| Proximal Renal Tubular Acidosis |
|
Polydipsia, Failure to thrive, Dehydration |
ORPHA:47159 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis |
OMIM:277380 |
| Leigh Syndrome |
|
Alopecia, Frontal hirsutism, Eczema, Hypertrichosis |
ORPHA:506 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of permanent teeth, A... |
OMIM:616894 |
| Gm1-Gangliosidosis, Type Ii |
|
Narrow mouth, Gingival overgrowth, Dysphagia, Protruding tongue |
OMIM:230600 |
| Imerslund-Gräsbeck Syndrome |
|
Pallor |
ORPHA:35858 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Microglossia, Narrow mouth |
ORPHA:990 |
| Adenohypophysitis |
|
Pallor |
ORPHA:95512 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Sparse eyebrow, ... |
OMIM:268400 |
| Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavior, High, narrow palate, Cl... |
ORPHA:464738 |
| Ataxia-Telangiectasia-Like Disorder 2 |
|
Conjunctival telangiectasia, Progeroid facial appearance, Cutaneous telangiectasia, Dysphagia, Cu... |
OMIM:615919 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Nail pits, Premature graying of hair, Nail dystrophy, Sparse hair |
OMIM:127550 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Glossitis, Cleft palate |
ORPHA:79284 |
| Aregenerative Anemia |
|
Pallor |
ORPHA:101096 |
| Panhypophysitis |
|
Pallor |
ORPHA:95513 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... |
ORPHA:352665 |
| Giant Cell Arteritis |
|
Alopecia, Skin ulcer |
ORPHA:397 |
| Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Self-mutilation, L... |
ORPHA:1051 |
| Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... |
ORPHA:861 |
| Fanconi Anemia, Complementation Group E |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Complete duplication of t... |
OMIM:600901 |
| Fanconi Anemia, Complementation Group D2 |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Preaxial hand polydactyly... |
OMIM:227646 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Bruising susceptibility, Progeroid facial appearance, Oligoh... |
OMIM:616914 |
| Pituitary Apoplexy |
|
Pallor |
ORPHA:95613 |
| Arterial Tortuosity Syndrome |
|
Progeroid facial appearance, Bruising susceptibility, Telangiectases of the cheeks, Cutis laxa |
OMIM:208050 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
| Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Carious teeth, Cleft lip, Pierre-Robin sequence, Cleft palate, ... |
OMIM:117650 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Alo... |
ORPHA:2232 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Eczema |
OMIM:212750 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Anal at... |
OMIM:613091 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Pallor |
ORPHA:137675 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Pallor |
ORPHA:29072 |
| Acquired Generalized Lipodystrophy |
|
Acute pancreatitis, Generalized hirsutism, Progeroid facial appearance |
ORPHA:79086 |
| Fanconi Anemia, Complementation Group A |
|
Anemic pallor, Short stature, Absent thumb, Absent radius, Short thumb, Complete duplication of t... |
OMIM:227650 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Alopecia, Congenital nonbullous ichthyosiform erythroderma |
ORPHA:98907 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Seborrheic dermatitis |
OMIM:210210 |
| Generalized Juvenile Polyposis/Juvenile Polyposis Coli |
|
Growth delay, Anemic pallor |
ORPHA:329971 |
| Gracile Bone Dysplasia |
|
Death in infancy, Ankyloglossia |
OMIM:602361 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Acanthosis nigricans, Sparse scalp hair, Alopecia, Onychogryposis |
OMIM:248370 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia |
ORPHA:453533 |
| Ritscher-Schinzel Syndrome 2 |
|
High palate, Intestinal malrotation, Short philtrum, Protruding tongue |
OMIM:300963 |
| Retinitis Pigmentosa And Erythrocytic Microcytosis |
|
Pallor |
OMIM:616959 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance... |
OMIM:615873 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Psoriasiform dermatitis, Alopecia totalis, Nail dystrophy, Abnormality of the periungua... |
ORPHA:293978 |
| Ane Syndrome |
|
Alopecia |
ORPHA:157954 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis |
ORPHA:2031 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Acne, Hirsutism |
ORPHA:90795 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Pyloric stenosis, Narrow mouth, Cleft palate, Tics... |
ORPHA:261330 |
| Au-Kline Syndrome |
|
Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia, High palate, Attenti... |
OMIM:616580 |
| Refractory Anemia With Excess Blasts |
|
Anemic pallor |
ORPHA:86839 |
| Primary Fanconi Renotubular Syndrome |
|
Dehydration, Weight loss |
ORPHA:3337 |
| Saul-Wilson Syndrome |
|
Prominent superficial veins, Progeroid facial appearance, Neutropenia |
OMIM:618150 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Synophrys, Follicular hyperkeratosis |
ORPHA:536545 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Protruding tongue, Diastema, Thick lower lip vermilion, Macroglossia, Widely-spaced maxillary cen... |
OMIM:301040 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia |
ORPHA:93160 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Pericardial effusion, Alopecia, Redundant skin |
ORPHA:536532 |
| Insulin-Resistance Syndrome Type B |
|
Acanthosis nigricans, Alopecia, Skin rash, Hirsutism |
ORPHA:2298 |
| Cockayne Syndrome Type 1 |
|
Failure to thrive, Progeroid facial appearance, Hypohidrosis, Cutaneous photosensitivity, Anemia |
ORPHA:90321 |
| Hallermann-Streiff Syndrome |
|
Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body... |
ORPHA:2108 |
| Biotinidase Deficiency |
|
Alopecia, Eczematoid dermatitis, Skin rash |
ORPHA:79241 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Protruding tongue, High, narrow palate, Death in childhood, Macroglossia, High palate, Dysphagia |
OMIM:214100 |
| Esophageal Atresia |
|
Growth delay, Clinodactyly, Pallor |
ORPHA:1199 |
| Cowden Syndrome |
|
Palmoplantar keratoderma, Generalized hyperkeratosis |
ORPHA:201 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Neo... |
OMIM:269860 |
| Joubert Syndrome 1 |
|
Hyperactivity, Aggressive behavior, Protruding tongue, Macroglossia, Triangular-shaped open mouth... |
OMIM:213300 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hemoglobin A1c, Progeroid facial appearance, Sparse eyebrow, Palmoplantar hyperkeratosis... |
OMIM:619127 |
| Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... |
ORPHA:97360 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue |
ORPHA:96147 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Narrow mouth, Esophageal stricture, Dysphagia, ... |
ORPHA:89842 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Nail dystrophy |
OMIM:620040 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per... |
OMIM:180700 |
| Frontorhiny |
|
Bifid tongue, Cleft palate |
ORPHA:391474 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Alopecia universalis |
OMIM:277440 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Alopecia totalis |
OMIM:618775 |
| Classical Ehlers-Danlos Syndrome |
|
Prematurely aged appearance, Poor wound healing, Bruising susceptibility, Joint swelling, Blephar... |
ORPHA:287 |
| Baller-Gerold Syndrome |
|
Erythema |
OMIM:218600 |
| Diamond-Blackfan Anemia |
|
Short stature, Absent thumb, Short thumb, Partial duplication of thumb phalanx, Growth delay, Pal... |
ORPHA:124 |
| Cockayne Syndrome Type 2 |
|
Progeroid facial appearance |
ORPHA:90322 |
| Cerebrocostomandibular Syndrome |
|
Glossoptosis, Short hard palate, Cleft palate, Death in infancy |
ORPHA:1393 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Tongue atrophy |
ORPHA:101085 |
| Multiple Endocrine Neoplasia Type 2 |
|
Neoplasm of the liver, Pallor |
ORPHA:653 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pallor, Pancreatic islet cell adenoma, Pancreatic cysts |
ORPHA:892 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ... |
OMIM:268310 |
| Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Dysphagia, Micro... |
OMIM:619777 |
| Otopalatodigital Syndrome Type 2 |
|
Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Anodontia |
ORPHA:90652 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Cleft hard palate, Submucou... |
OMIM:300990 |
| Pelvis-Shoulder Dysplasia |
|
Thick anterior alveolar ridges, Microglossia, Cleft palate |
ORPHA:2839 |
| Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Prematurely aged appearance, Redundant skin, Telangiectasia of the skin, Abnormality of... |
ORPHA:286 |
| Autosomal Dominant Robinow Syndrome |
|
Open bite, High, narrow palate, Abnormality of the gingiva, Supernumerary tooth, Gingival overgro... |
ORPHA:3107 |
| Tarp Syndrome |
|
Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum m... |
ORPHA:2886 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperconvex fingernails, Prematurely aged appearance, Redundant skin, Hypoplastic fingernail |
ORPHA:2658 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Protruding tongue, High palate, Attention deficit hyperactivity disorde... |
OMIM:617062 |
| Opitz Gbbb Syndrome |
|
Natal tooth, Cleft lip, Tracheoesophageal fistula, Cleft palate, Ectopic anus, High palate, Hypod... |
ORPHA:2745 |
| Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis |
ORPHA:247353 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy |
ORPHA:99956 |
| Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Abnormal dental enamel morphology, Abnormal dental morphology, Pyloric ste... |
ORPHA:818 |
| Congenital Sialidosis Type 2 |
|
Gingival overgrowth, Protruding tongue |
ORPHA:93400 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia |
OMIM:613001 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Pallor, Pancreatitis |
ORPHA:544482 |
| Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Pyloric stenosis, Gingival overgrowth, Anteriorly placed anus, Glo... |
OMIM:602535 |
| Williams Syndrome |
|
Death in early adulthood, Failure to thrive in infancy, Redundant skin, Prematurely aged appearan... |
ORPHA:904 |
| Cerebrotendinous Xanthomatosis |
|
Prematurely aged appearance, Aggressive behavior, Agitation, Attention deficit hyperactivity diso... |
ORPHA:909 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Chronic mucocutaneous candidiasis |
OMIM:269200 |
| Tsh-Secreting Pituitary Adenoma |
|
Pallor, Delayed puberty |
ORPHA:91347 |
| Catel-Manzke Syndrome |
|
Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi... |
OMIM:616145 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Glossoptosis, Cleft palate |
ORPHA:94068 |
| Branchioskeletogenital Syndrome |
|
Absent nipple, Highly arched eyebrow, Synophrys, Blepharochalasis, Periorbital wrinkles |
ORPHA:1299 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Failure to thrive, Dry skin, Acute myelomonocytic leukemia |
ORPHA:99646 |
| 1Q21.1 Microdeletion Syndrome |
|
Ankyloglossia, High palate, Attention deficit hyperactivity disorder, Long philtrum |
ORPHA:250989 |
| Distal Deletion 12Q |
|
Hyperactivity, Median cleft lip, High, narrow palate, Esophageal atresia, Pyloric stenosis, Super... |
ORPHA:96149 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Protruding tongue, Deep philtrum, Gingival overgrowth, Narrow palate, Long ... |
ORPHA:99843 |
| Chromosome Xp11.3 Deletion Syndrome |
|
Progeroid facial appearance |
OMIM:300578 |
| Pallister-Hall Syndrome |
|
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Neonatal death, Microglossia,... |
OMIM:146510 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, High palate, Tics, Compulsive behaviors, Short philtrum, Abnormal repetitive... |
OMIM:619475 |
| Distal Deletion 19P |
|
Alopecia, Thick eyebrow |
ORPHA:96129 |
| Keppen-Lubinsky Syndrome |
|
Progeroid facial appearance, Failure to thrive, Lack of facial subcutaneous fat, Polyhydramnios |
OMIM:614098 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations |
ORPHA:99949 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Attention deficit hyperactivity d... |
OMIM:616975 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Macroglossia, Open mouth, Dysphagia, Protruding tongue |
ORPHA:258 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Alopecia, Xerostomia, Chronic mucocutaneous candidiasis |
ORPHA:227990 |
| Achondrogenesis, Type Ia |
|
Stillbirth, Protruding tongue |
OMIM:200600 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Alopecia, Xerostomia, Chronic mucocutaneous candidiasis |
ORPHA:227982 |
| Orofaciodigital Syndrome Type 14 |
|
Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Cleft palate, Aplasia of the e... |
ORPHA:434179 |
| Proteus Syndrome |
|
Lymphedema, Thickened skin, Generalized hirsutism, Generalized hyperkeratosis, Abnormality of the... |
ORPHA:744 |
| Pseudoxanthoma Elasticum |
|
Civatte bodies, Cutis laxa |
OMIM:264800 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Narrow mouth, Palmopl... |
ORPHA:79408 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia |
OMIM:263520 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Cleft palate, Aplasia of the ep... |
OMIM:615948 |
| Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Sparse eyelashes, Pterygium of nails, Premature graying of hai... |
OMIM:305000 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Cutaneous photosensitivity, Progeroid facial appearance |
OMIM:610651 |
| Stickler Syndrome |
|
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Macroglossia, Glosso... |
ORPHA:828 |
| Distal Deletion 15Q |
|
Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Attention d... |
ORPHA:1596 |
| Cousin Syndrome |
|
Microglossia, Alveolar ridge overgrowth, Cleft palate |
OMIM:260660 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Protruding tongue, Hypoplast... |
OMIM:309580 |
| Linear Nevus Sebaceus Syndrome |
|
Alopecia |
ORPHA:2612 |
| Meckel Syndrome, Type 1 |
|
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ... |
OMIM:249000 |
| Encephalocraniocutaneous Lipomatosis |
|
Abnormal eyelash morphology, Alopecia |
ORPHA:2396 |
| Systemic Lupus Erythematosus |
|
Discoid lupus rash, Alopecia, Malar rash |
ORPHA:536 |
| Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Hyperactivity, Aganglionic megacolon, Intestinal malrotation, Dental crowding, ... |
OMIM:270400 |
| Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Downturned corners of mouth, Ankyloglossia, Cleft palate |
ORPHA:488642 |
| Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Protruding tongue... |
ORPHA:2388 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Downturned corners of mouth, Macroglossia, Glossoptosis, High palate, L... |
ORPHA:444077 |
| Steinert Myotonic Dystrophy |
|
Early balding, Alopecia, Polyhydramnios |
ORPHA:273 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Pallor |
OMIM:253280 |
| Fraser Syndrome |
|
Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial... |
ORPHA:2052 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormality of the dentition, Cleft palate, Anteriorly placed anus, Microglossia, Enamel hypoplasia |
OMIM:151050 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Low posterior hairlin... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Low posterior hairlin... |
ORPHA:99228 |
| Monosomy X |
|
Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Low posterior hairlin... |
ORPHA:99226 |
| Turner Syndrome |
|
Alopecia, Abnormal fingernail morphology, Lymphedema, Hypoplastic toenails, Low posterior hairlin... |
ORPHA:881 |
| Sarcoidosis |
|
Alopecia, Maculopapular exanthema, Eosinophilia, Erythema nodosum, Joint swelling, Chylothorax, P... |
ORPHA:797 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Sparse hair, Alopecia, Loss of eyelashes, Thin eyebrow |
ORPHA:2636 |
| Yunis-Varon Syndrome |
|
Premature loss of primary teeth, Abnormality of dental structure, High, narrow palate, Pyloric st... |
ORPHA:3472 |
| Bilateral Perisylvian Polymicrogyria |
|
Pseudobulbar paralysis, Dysphagia, Protruding tongue |
ORPHA:98889 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Long philtrum, Protruding tongue |
ORPHA:50945 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Carious teeth, Downturned corners of mouth, Ankyloglossia,... |
OMIM:620186 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue atrophy |
ORPHA:466768 |
| Viss Syndrome |
|
Sparse scalp hair, Alopecia, Eczema, Polyhydramnios, Hypereosinophilia, Atopic dermatitis, Cutis ... |
OMIM:619472 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Aggressive behavior, Agenesis of incisor, Wide mouth, Self-injurious be... |
OMIM:619841 |
| Meckel Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Furrowed tongue |
ORPHA:564 |
| Adams-Oliver Syndrome 1 |
|
Alopecia, Supernumerary nipple, Small nail |
OMIM:100300 |
| Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... |
ORPHA:2729 |
| Neuroocular Syndrome |
|
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Atten... |
OMIM:619539 |
| Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia |
OMIM:190685 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia |
OMIM:619321 |
| African Trypanosomiasis |
|
Pruritus, Alopecia |
ORPHA:3385 |
| Ring Chromosome 13 Syndrome |
|
Alopecia |
ORPHA:96176 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Pallor |
ORPHA:99125 |
| Goodpasture Syndrome |
|
Pallor |
OMIM:233450 |
| Stüve-Wiedemann Syndrome |
|
Smooth tongue, Abnormality of the dentition |
ORPHA:3206 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Intestinal malrotation, Submucous cleft lip, Dental malocclusio... |
OMIM:312870 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:261537 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, Anal atresia |
ORPHA:93271 |
| Pallister-Killian Syndrome |
|
Sparse scalp hair, Alopecia, Edema of the dorsum of feet, Sparse eyelashes, Polyhydramnios, Super... |
OMIM:601803 |
| Pallister-Hall Syndrome |
|
Natal tooth, Accessory oral frenulum, Cleft lip, Cleft palate, Bifid uvula, Microglossia, Paroxys... |
ORPHA:672 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Delayed eruption of teeth, Aganglionic megacolon, Dental crowding, Abnormal dental morphology, Cl... |
ORPHA:261552 |
| Microphthalmia, Syndromic 6 |
|
Microglossia, High palate, Bifid uvula, Cleft palate |
OMIM:607932 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Supernumerary tooth, Ankyloglossia |
OMIM:619525 |
| Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Abnormal hard palate morpho... |
ORPHA:1359 |
