Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of the dentition |
OMIM:617756 |
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 |
Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:146750 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Ulerythema Ophryogenesis |
|
Miscarriage, Acne, Dry skin, Facial erythema, Follicular hyperkeratosis, Hyperkeratotic papule, C... |
ORPHA:3406 |
Aquagenic Palmoplantar Keratoderma |
|
Edema, Excessive skin wrinkling on dorsum of hands and fingers, Atopic dermatitis, Orthokeratotic... |
ORPHA:498359 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Oral mucosal blisters, Pruritus, Palmoplantar hyperkeratosis, Hyperkeratosis, Failure to thrive |
ORPHA:89838 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Erythema, Hyperkeratosis, Orthokeratotic hyperkeratosis, Scaling skin, Congenital nonbu... |
OMIM:617571 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Melkersson-Rosenthal Syndrome |
|
Facial edema, Furrowed tongue |
OMIM:155900 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Skin ulcer, Weight loss, Hyperkeratosis, Congenital bullous ichthyosiform erythrode... |
ORPHA:312 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Ichthyos... |
ORPHA:454 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Abnormality of the dentition, Pruritus, Oral mucosal blisters, Hyperkerat... |
ORPHA:79399 |
Anonychia With Flexural Pigmentation |
|
Carious teeth, Hyperkeratosis, Follicular hyperkeratosis |
ORPHA:69125 |
Non-Epidermolytic Palmoplantar Keratoderma |
|
Pruritus, Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal oral mu... |
ORPHA:79147 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Increased body weight, Facial ery... |
ORPHA:64745 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Erythema, Palmoplantar hyperker... |
OMIM:617526 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis |
ORPHA:79503 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Palmoplantar hyperkeratosis, Facial erythema, Hyperkeratosis, Dry skin, Sclerodactyly |
OMIM:212360 |
Lipoid Proteinosis |
|
Acne, Abnormal oral mucosa morphology, Pustule, Thickened skin, Abnormality of the gingiva, Thick... |
ORPHA:530 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Edema, Pruritus, Erythema, Skin ulcer, Hyperkeratosis, Dry skin |
ORPHA:2584 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Skin ulcer, Hyperkeratosis, ... |
ORPHA:90280 |
Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Acanthosi... |
ORPHA:166113 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:2812 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Erythema, Hyperkeratosis, Tooth agenesis, Palmoplantar keratoderma, Icht... |
OMIM:615821 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Scaling skin on fingertip, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis,... |
ORPHA:79395 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Congenital Disorder Of Glycosylation, Type If |
|
Death in infancy, Ataxia, Dry skin, Hyperkeratosis, Thin vermilion border, Scaling skin, Erythrod... |
OMIM:609180 |
Lamellar Ichthyosis |
|
Abnormality of the dentition, Pruritus, Erythroderma, Dehydration, Lack of skin elasticity, Hyper... |
ORPHA:313 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans, Skin ulcer |
ORPHA:409 |
Erythrokeratodermia Variabilis |
|
Skin rash, Erythema, Patchy palmoplantar hyperkeratosis, Weight loss, Hyperkeratosis, Dry skin |
ORPHA:317 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate, Weight loss |
ORPHA:141152 |
Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Chronic furunculosis, Pyoderma gangrenosum, Cutaneous abscess |
OMIM:619986 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Erythema, Gingivitis, Hyperkeratosis, Ichthyosis, Scaling skin, Congenital nonbullous ichthyosifo... |
OMIM:614457 |
Dermatofibrosarcoma Protuberans |
|
Thickened skin, Erythema, Skin ulcer |
ORPHA:31112 |
Reticular Dysgenesis |
|
Skin rash, Malabsorption, Dehydration, Weight loss, Skin ulcer, Failure to thrive |
ORPHA:33355 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... |
OMIM:616295 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... |
ORPHA:3019 |
Atrophoderma Vermiculata |
|
Pruritus, Erythema, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Juvenile Hyaline Fibromatosis |
|
Death in infancy, Gingival fibromatosis, Skin ulcer, Gingival overgrowth |
ORPHA:2028 |
Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Failure to thrive, Cleft palate |
ORPHA:1388 |
Ichthyosis, Congenital, Autosomal Recessive 4B |
|
Death in infancy, Congenital ichthyosiform erythroderma, Everted lower lip vermilion, Neonatal de... |
OMIM:242500 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Thickened skin, Abn... |
ORPHA:659 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... |
ORPHA:2897 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis, Scaling skin |
OMIM:602723 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Abnormal oral mucosa morphology, Skin vesicle |
ORPHA:254478 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Thickened skin, Erythroderma, Palmoplantar hyperkeratosis, Palmoplantar scaling sk... |
ORPHA:100976 |
Lichen Planopilaris |
|
Pruritus, Skin ulcer, Hyperkeratosis, Abnormal intestine morphology, Neoplasm of the oral cavity |
ORPHA:525 |
Vulvovaginal Gingival Syndrome |
|
Parakeratosis, Pruritus, Erythema, Oral ulcer, Gingivitis |
ORPHA:83453 |
Hartnup Disorder |
|
Episodic ataxia, Glossitis |
OMIM:234500 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Erythema, Hyperkeratosis, Ichthyosis, Dry skin |
ORPHA:816 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... |
OMIM:620014 |
Solar Urticaria |
|
Edema, Pruritus, Periorbital edema, Angioedema, Abnormal tongue morphology, Abnormal lip morphology |
ORPHA:97230 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... |
OMIM:619208 |
Epidermolytic Palmoplantar Keratoderma |
|
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... |
ORPHA:2199 |
Dracunculiasis |
|
Pruritus, Recurrent cutaneous abscess formation, Skin rash, Skin ulcer |
ORPHA:231 |
Flynn-Aird Syndrome |
|
Carious teeth, Hyperkeratosis, Ataxia |
OMIM:136300 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy |
OMIM:614876 |
Peeling Skin Syndrome 6 |
|
Parakeratosis, Pruritus, Atopic dermatitis, Scaling skin, Orthokeratosis, Dry skin |
OMIM:618084 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Pustule, Erythema, Furrowed tongue, Geographic tongue |
OMIM:614204 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Acquired Hypertrichosis Lanuginosa |
|
Thickened skin, Weight loss, Macroglossia, Ichthyosis, Acanthosis nigricans, Glossitis |
ORPHA:2221 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Eclabion, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Eryt... |
OMIM:615023 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Erythema, Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythrode... |
OMIM:606545 |
Free Sialic Acid Storage Disease |
|
Ataxia, Failure to thrive in infancy, Hydrops fetalis, Skin ulcer, Athetosis, Gait disturbance, A... |
ORPHA:834 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous... |
OMIM:613576 |
Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Abnormality of the dentition, Pruritus, Atopic dermatitis, Hyperkeratosis, Scaling... |
ORPHA:90368 |
Chilblain Lupus 1 |
|
Chilblains, Skin ulcer |
OMIM:610448 |
Acrodermatitis Enteropathica |
|
Malabsorption, Pustule, Erythema, Cheilitis, Abnormality of the tongue, Furrowed tongue, Weight l... |
ORPHA:37 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Oral mucosal blisters, Pruritus, Palmoplantar hyperkeratosis, Erythema migrans, Sk... |
ORPHA:158681 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Ichthyosis, Orthokeratosis |
OMIM:613943 |
Keratoderma Hereditarium Mutilans |
|
Hyperkeratosis, Cleft palate, Honeycomb palmoplantar hyperkeratosis, Ichthyosis |
ORPHA:494 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Unsteady gait, Cutis laxa, Scaling skin, Generalized ichthyosis, Eclabion, Dry skin, Generalized ... |
ORPHA:2269 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Ataxia, Xerostomia, Dysmetria, Hyperkeratosis, Ichthyosis, Acanthosis nigricans, D... |
OMIM:618527 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Erythema, Palmoplantar hyperkeratosis, Ichthyosis, Scaling skin, Congenital b... |
OMIM:607602 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Erythema, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthok... |
OMIM:620148 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Decreased body weight, Nonimmune hydrops fetalis, Polyhydramnios, Ak... |
OMIM:608013 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Dry skin, Ichthyosis |
ORPHA:461 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:614669 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis, Scaling skin |
OMIM:617115 |
Moynahan Syndrome |
|
Hyperkeratosis, Cachexia |
ORPHA:2574 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Ataxia, Dental malocclusion, Short mandibular rami |
OMIM:141300 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, Cobblestone-... |
OMIM:602540 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Inability to walk, Dry skin, High palate, Follicular hyperkeratosis |
OMIM:617066 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... |
OMIM:242300 |
Noonan Syndrome 8 |
|
Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Webbed neck, Palmoplantar cuti... |
OMIM:615355 |
Peeling Skin Syndrome 4 |
|
Hyperkeratosis, Palmoplantar keratoderma, Scaling skin, Ichthyosis, Orthokeratosis |
OMIM:607936 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia, Gait ataxia |
OMIM:616540 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Inability to walk, Penetrating foot ulcers, Skin ulcer, Hyperkeratosis, Steppage gait, Gait imbal... |
ORPHA:36386 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Cardiofaciocutaneous Syndrome 3 |
|
Wide mouth, Hyperkeratosis, Failure to thrive, Webbed neck |
OMIM:615279 |
Costello Syndrome |
|
Failure to thrive in infancy, Abnormal dental enamel morphology, Polyhydramnios, Abnormality of t... |
ORPHA:3071 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Hypodontia, Dry skin |
OMIM:224750 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis, Conical tooth |
OMIM:618625 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Dry skin, Cutis laxa, Hyperkeratosis, Ichthyosis, Failure to thrive |
OMIM:612379 |
Harlequin Ichthyosis |
|
Erythroderma, Dehydration, Hyperkeratosis, Congenital ichthyosiform erythroderma, Ichthyosis, Ecl... |
ORPHA:457 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Prolidase Deficiency |
|
Pruritus, Carious teeth, Crusting erythematous dermatitis, Erythema, Skin ulcer, Hyperkeratosis, ... |
ORPHA:742 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Tip-toe gait |
ORPHA:496689 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Eczema, Abnormality of the dentition, Xerostomia, Dry skin, Hyperkera... |
ORPHA:238468 |
Irida Syndrome |
|
Hyperkeratosis, Abnormal intestine morphology, Pallor, Ichthyosis |
ORPHA:209981 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Gait disturbance, Acral ulceration, Skin ulcer |
ORPHA:139578 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Premature loss of primary teeth, Abnormality of the dentition, Pustule, Open bite, Narrow... |
ORPHA:2907 |
Myasthenic Syndrome, Congenital, 10 |
|
Waddling gait, Tongue atrophy |
OMIM:254300 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:617525 |
Faciocardiomelic Dysplasia, Lethal |
|
Neonatal death, Microglossia, Small for gestational age, Narrow mouth |
OMIM:227270 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy, Steppage gait, Gait disturbance |
OMIM:616155 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:604777 |
Isolated Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Skin rash, Malabsorption, Skin ulcer, Failure to thrive |
ORPHA:229717 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Truncal obesity, Gait disturbance, Furrowed tongue |
ORPHA:2928 |
Proteus Syndrome |
|
Hyperkeratosis, Open mouth |
OMIM:176920 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Abnormal dental morphology, Abnormality of the dentition,... |
ORPHA:158668 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Skin rash, Malabsorption, Skin ulcer, Weight loss, Glossop... |
ORPHA:47 |
Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... |
OMIM:148500 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Hypergranulosis, Acantholysis, Eosinophilic i... |
OMIM:615508 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... |
OMIM:300918 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypergranulosis, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar ke... |
OMIM:242100 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin |
OMIM:247100 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Hypergranulosis, Erythema, Palmoplantar hyperkeratosis, Abnormality of pr... |
OMIM:257980 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal dental enamel morphology, Pruritus, Erythema, Cheilitis, Skin ulcer, Hyperker... |
ORPHA:1334 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
Acrogeria |
|
Excessive wrinkled skin, Thin skin, Skin ulcer |
ORPHA:2500 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Overweight, Dry skin, High palate, Follicular hyperkeratosis |
ORPHA:486815 |
Flynn-Aird Syndrome |
|
Carious teeth, Skin ulcer, Ataxia, Cachexia |
ORPHA:2047 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Hypotrichosis 6 |
|
Pruritus, Erythema, Follicular hyperkeratosis |
OMIM:607903 |
Leishmaniasis |
|
Abnormal oral mucosa morphology, Skin ulcer, Weight loss, Pallor, Abnormal oral cavity morphology |
ORPHA:507 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Cleft palate, Dysmetria, Glossoptosis, Dysdiadochokinesis, Failure to thrive |
OMIM:618356 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Gait disturbance |
ORPHA:216873 |
Proliferating Trichilemmal Cyst |
|
Skin ulcer |
ORPHA:492 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli... |
OMIM:615726 |
Netherton Syndrome |
|
Hypernatremic dehydration, Parakeratosis, Villous atrophy, Recurrent skin infections, Eczema, Ang... |
OMIM:256500 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis, Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Pachyonychia Congenita |
|
Natal tooth, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmop... |
ORPHA:2309 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... |
ORPHA:182 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Esophageal varix, Dry skin, Hyperkeratosis, Inflammation of the large intestine... |
OMIM:614576 |
Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Inflammatory abnormality of the skin, Dry skin, Hyperkeratosis, Ichthyosis, Fai... |
OMIM:610768 |
Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Thin skin, Skin ulcer, Purpura |
ORPHA:743 |
Leopard Syndrome 3 |
|
Hyperkeratosis, Dry skin, Webbed neck, Epidermal hyperkeratosis |
OMIM:613707 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Hypodo... |
OMIM:616029 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Steppage gait, Gait disturbance, Tongue fasciculations, Tip-toe gait, Loss of amb... |
OMIM:620285 |
Reynolds Syndrome |
|
Skin rash, Pruritus, Abnormal gastric mucosa morphology, Xerostomia, Skin ulcer, Ascites, Sclerod... |
ORPHA:779 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
Subacute Cutaneous Lupus Erythematosus |
|
Psoriasiform lesion, Discoid lupus rash, Cheilitis, Hyperkeratosis, Malar rash |
ORPHA:163525 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Inability to walk, Downturned corners of mouth, Lobulated tongue, Short... |
OMIM:613443 |
Combined Immunodeficiency Due To Dock8 Deficiency |
|
Recurrent bacterial skin infections, Atopic dermatitis, Skin ulcer, Anal canal squamous carcinoma |
ORPHA:217390 |
Prolidase Deficiency |
|
Eczema, Crusting erythematous dermatitis, Skin ulcer, High palate, Failure to thrive, Petechiae |
OMIM:170100 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Natal tooth, Eczema, Cleft palate, Short philtrum, Orthokeratosis, Acne... |
OMIM:617337 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... |
OMIM:148700 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
Whistling Face Syndrome, Recessive Form |
|
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia |
OMIM:277720 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Skin rash, Eczema, Abnormality of the dentition, Pruritus, Gingivitis,... |
ORPHA:2314 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Cachexia, Lymphedema, Malabsorption, Hypogeusia, Furrowed tongue, Hamartoma... |
ORPHA:2930 |
Brooke-Spiegler Syndrome |
|
Abnormality of the sublingual glands, Abnormality of the submandibular glands, Skin ulcer, Saliva... |
ORPHA:79493 |
Dowling-Degos Disease |
|
Pruritus, Hyperkeratosis, Skin vesicle, Hyperkeratotic papule, Acne inversa |
ORPHA:79145 |
Neuropathy, Hereditary Sensory, Type Iic |
|
Acral ulceration |
OMIM:614213 |
Infantile Systemic Hyalinosis |
|
Abnormal dental morphology, Lymphedema, Malabsorption, Thickened skin, Gingival overgrowth, Skin ... |
ORPHA:2176 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Pallor, Narrow mouth, Gl... |
ORPHA:54028 |
Spinocerebellar Ataxia 34 |
|
Ataxia, Epidermal hyperkeratosis, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Erythroderma |
OMIM:133190 |
Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma |
OMIM:608649 |
Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Erythema, Skin ulcer |
ORPHA:542592 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Small for gestational age, Malabsorption, Hyperkeratosi... |
OMIM:601675 |
Familial Benign Chronic Pemphigus |
|
Skin vesicle, Hyperkeratosis, Erythema, Acantholysis |
ORPHA:2841 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Pruritus, Oligodontia, Hypodontia, Ichthyosis, Orthokeratosis, Enamel hypoplasia, ... |
OMIM:607626 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Conical primary incisor |
OMIM:602400 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition |
ORPHA:1387 |
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Cystic acne, Colitis, Acne, Pyoderma gangrenosum |
OMIM:604416 |
Mednik Syndrome |
|
Hyperkeratosis, Abnormal intestine morphology, Ichthyosis |
ORPHA:171851 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Macro... |
ORPHA:2483 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Facial erythema, Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis, Dry skin |
OMIM:308800 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
Pachyonychia Congenita 1 |
|
Oral leukoplakia, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Obesity, Prominent median palatal ra... |
OMIM:300602 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Syndromic Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Abnormal stomach morphology, Ichthyosis |
ORPHA:281090 |
Aplasia Cutis Congenita |
|
Skin ulcer |
ORPHA:1114 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Palmoplantar erythema, Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
Cardiofaciocutaneous Syndrome |
|
Failure to thrive in infancy, Redundant skin, Lymphedema, Submucous cleft hard palate, Webbed nec... |
ORPHA:1340 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Ataxia, Dysmetria, Limb ataxia, Tongue fasciculations, Difficulty walking, Trunca... |
ORPHA:276198 |
Donohue Syndrome |
|
Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Hyperkeratosis, Severe failure to thr... |
OMIM:246200 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Skin rash, Failure to thrive in infancy, Pustule, Joint swelling, Hyperkeratosis, Stomatitis |
OMIM:612852 |
Sialidosis Type 1 |
|
Hyperkeratosis, Thick lower lip vermilion, Ataxia, Gait disturbance |
ORPHA:812 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Hyperkeratosis, Short philtrum, Death in infancy |
ORPHA:163966 |
Tarp Syndrome |
|
Failure to thrive, Cleft palate, Tongue nodules, Glossoptosis, Athetosis, High palate, Neonatal d... |
OMIM:311900 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Ataxia, Limb ataxia, Gait ataxia, Tongue fasciculations, Truncal ataxia |
OMIM:614153 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Furrowed tongue, Hyperkeratosis, Ichthyosis, Microdontia, Or... |
OMIM:148210 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy |
OMIM:158900 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
ORPHA:189 |
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 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis |
OMIM:618339 |
Adult Polyglucosan Body Disease |
|
Skin ulcer, Ataxia, Gait disturbance |
ORPHA:206583 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, Intestinal bleeding, Anal can... |
ORPHA:424019 |
Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:620269 |
Holzgreve Syndrome |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Webbed neck, Bifid tongue, Oligohydramnios |
ORPHA:2167 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Recurrent skin infections, Pyoderma gangrenosum, Oral ulcer, Gingivitis, Periodontitis, Recurrent... |
ORPHA:486 |
Mulibrey Nanism |
|
Dental crowding, Dental malocclusion, Hydrops fetalis, Hypodontia, Microglossia, Ascites, Enamel ... |
OMIM:253250 |
Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard pala... |
OMIM:115150 |
Pyoderma Gangrenosum |
|
Pustule, Skin vesicle, Inflammation of the large intestine, Skin ulcer |
ORPHA:48104 |
Werner Syndrome |
|
Miscarriage, Lack of skin elasticity, Skin ulcer, Hyperkeratosis, Slender build, Neoplasm of the ... |
ORPHA:902 |
Bazex-Dupre-Christol Syndrome |
|
Atopic dermatitis, Eczema, Acne inversa, Furrowed tongue |
OMIM:301845 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis, Skin ulcer, Abnormality of the dentition |
ORPHA:1806 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Lymphedema |
ORPHA:79279 |
Polyarteritis Nodosa |
|
Erythema, Skin ulcer, Weight loss |
ORPHA:767 |
Lelis Syndrome |
|
Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia, Acanthosis nigricans |
ORPHA:140936 |
Monilethrix |
|
Follicular hyperkeratosis, Abnormality of the dentition |
ORPHA:573 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Edema, Carious teeth, Hyperkeratosis, Palmoplantar keratoderma... |
OMIM:604173 |
Dermatoosteolysis, Kirghizian Type |
|
Oligodontia, Skin ulcer, Abnormality of the dentition |
ORPHA:1657 |
Aplasia Cutis-Myopia Syndrome |
|
Skin ulcer |
ORPHA:1117 |
Mandibuloacral Dysplasia |
|
Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Thin skin, Acantho... |
ORPHA:2457 |
Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... |
ORPHA:137888 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Pyoderma gangrenosum, Recurrent aphthous stomatitis, Chronic oral candidiasis |
OMIM:150550 |
Acute Radiation Syndrome |
|
Hyperkeratosis, Inflammatory abnormality of the skin, Scaling skin, Skin ulcer |
ORPHA:454831 |
Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Pyoderma gangrenosum, Recurrent skin infections |
OMIM:616576 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations, Difficulty walking |
OMIM:601596 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Papa Syndrome |
|
Pustule, Acne, Skin ulcer |
ORPHA:69126 |
Angelman Syndrome Due To A Point Mutation |
|
Broad-based gait, Ataxia, Protruding tongue, Obesity, Wide mouth, Widely spaced teeth, Gait imbal... |
ORPHA:411511 |
Hartnup Disease |
|
Ataxia, Skin rash, Malabsorption, Gingivitis, Glossitis |
ORPHA:2116 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Skin rash, Small for gestational age, Tracheoesophageal fistula, High p... |
OMIM:277380 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Skin vesicle, Angular cheilitis, Follicular hyperkeratosis |
OMIM:613102 |
Seckel Syndrome 2 |
|
Microdontia, Microglossia, Small for gestational age |
OMIM:606744 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Skin rash, Cleft palate, Stomatitis, Lethargy, Failure to thrive, Glossitis |
ORPHA:79284 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Hyperkeratosis |
ORPHA:1883 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Death in child... |
OMIM:612938 |
Takayasu Arteritis |
|
Skin ulcer, Weight loss |
ORPHA:3287 |
Infantile Myofibromatosis |
|
Intestinal obstruction, Gingival fibromatosis, Tracheoesophageal fistula, Skin ulcer, Abnormal in... |
ORPHA:2591 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:870 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Thickened skin, Narrow philtrum, Palmoplantar hyperkeratosis, Corneal ... |
OMIM:601812 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Long philtrum |
OMIM:615225 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Polyhydra... |
ORPHA:2759 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Hereditary Folate Malabsorption |
|
Pallor, Failure to thrive, Glossitis, Cheilitis |
ORPHA:90045 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Hyperkeratosis... |
OMIM:601701 |
Chime Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Erythema, Cleft pa... |
ORPHA:3474 |
Ring Chromosome 22 Syndrome |
|
Edema, Protruding tongue, Lymphedema, Gait ataxia, Thick vermilion border, Pleural effusion |
ORPHA:1446 |
Ollier Disease |
|
Skin ulcer |
ORPHA:296 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Slender build, Failure to thrive, High palate, Follicular hyperkeratosis |
OMIM:254090 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash |
ORPHA:398124 |
Malakoplakia |
|
Inflammatory abnormality of the skin, Skin rash, Pruritus, Abnormality of the tongue, Skin ulcer,... |
ORPHA:556 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Inability to walk, Penetrating foot ulcers, Tip-toe gait, Difficulty walking, Dif... |
ORPHA:99956 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Epidermal hyperkeratosis, Lymphedema, Thick vermilion... |
OMIM:137940 |
Attenuated Chédiak-Higashi Syndrome |
|
Gingival bleeding, Skin ulcer |
ORPHA:352723 |
Agel Amyloidosis |
|
Tongue atrophy, Ataxia, Edema, Pruritus, Xerostomia, Cutis laxa, Blepharochalasis, Dry skin |
ORPHA:85448 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Familial Keratoacanthoma |
|
Hyperkeratosis, Skin ulcer |
ORPHA:493 |
Hypoglossia With Situs Inversus |
|
Microglossia, High palate, Hypodontia, Narrow mouth |
OMIM:612776 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Microglossia, Median cleft lip, Cleft palate |
OMIM:241800 |
Limited Cutaneous Systemic Sclerosis |
|
Skin ulcer |
ORPHA:220402 |
Adult Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Skin ulcer, Thin skin, Dry skin |
ORPHA:978 |
Bone Marrow Failure Syndrome 3 |
|
Eczema, Oral ulcer, Downturned corners of mouth, Hyperkeratosis, Hypodontia, Microdontia, Enamel ... |
OMIM:617052 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Skin rash, Abnormal dental enamel morpholo... |
ORPHA:464 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Protruding tongue, Obesity, Wide mouth, Macroglossia, Progressive gait ... |
OMIM:105830 |
Marshall-Smith Syndrome |
|
Protruding tongue, Gingival overgrowth, Thin skin, Open mouth, Failure to thrive |
ORPHA:561 |
Pgm3-Cdg |
|
Lactose intolerance, Recurrent skin infections, Eczema, Ataxia, Atopic dermatitis, Skin ulcer, Hi... |
ORPHA:443811 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Ataxia, Protruding tongue, Inability to walk, Upper eyelid edema, High palate, Thin skin, Everted... |
OMIM:617804 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... |
OMIM:174300 |
Giant Cell Arteritis |
|
Skin ulcer, Glossitis, Ataxia, Weight loss |
ORPHA:397 |
Chronic Granulomatous Disease |
|
Eczema, Malabsorption, Pyloric stenosis, Tracheoesophageal fistula, Gingivitis, Skin ulcer |
ORPHA:379 |
Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... |
OMIM:258860 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Dry skin, Failure to thrive, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
Generalized Pustular Psoriasis |
|
Pustule, Overweight, Cheilitis, Pedal edema, Obesity, Palmoplantar pustulosis, Erythroderma, Geog... |
ORPHA:247353 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Diastema, Furrowed tongue, High palate, Shuffling gait, Decreased body ... |
OMIM:300534 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Ataxia, Death in childhood, Tongue fasciculations, Gait imbalance, Truncal ataxia |
OMIM:211530 |
Agnathia-Otocephaly Complex |
|
Polyhydramnios, Aglossia, Cleft palate, Narrow mouth, Microglossia |
OMIM:202650 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... |
OMIM:618106 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology, Difficulty walking |
ORPHA:531151 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Cleft upper lip, Erythema, Hyperkeratosis, Congenital ichthyosiform erythroderma, ... |
OMIM:308050 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Familial Multiple Nevi Flammei |
|
Skin ulcer, Edema |
ORPHA:624 |
Xeroderma Pigmentosum |
|
Ataxia, Abnormality of the dentition, Thickened skin, Erythema, Dry skin, Hyperkeratosis, Thin sk... |
ORPHA:910 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... |
OMIM:616367 |
Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long ph... |
OMIM:618580 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Abnormal dental enamel morphology, Premature loss of primary teeth, Ca... |
ORPHA:2908 |
Noonan Syndrome 10 |
|
Increased nuchal translucency, Hyperkeratosis, High palate, Webbed neck, Palmoplantar cutis laxa,... |
OMIM:616564 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Eczema, Polyhydramnios, Large for gestational age, Hyperkeratosis, Ichthyosis, High palate, Webbe... |
OMIM:607721 |
Calciphylaxis |
|
Abnormality of skin physiology, Skin ulcer |
ORPHA:280062 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Cleft palate, Narrow mouth, B... |
ORPHA:1790 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Broad-based gait, Protruding tongue, Wide mouth, Widely spaced teeth, Gait imbalance |
ORPHA:98795 |
Joubert Syndrome 18 |
|
Lobulated tongue, Cleft palate |
OMIM:614815 |
Gracile Bone Dysplasia |
|
Death in infancy, Failure to thrive, Ascites, Ankyloglossia |
OMIM:602361 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis |
OMIM:175500 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
Orofaciodigital Syndrome Type 6 |
|
Failure to thrive, Ataxia, Hamartoma of tongue, Midline notch of upper alveolar ridge, Cleft pala... |
ORPHA:2754 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Congenital Sialidosis Type 2 |
|
Ataxia, Edema, Protruding tongue, Gingival overgrowth, Dysmetria, Ascites, Petechiae |
ORPHA:93400 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Acral ulceration, Tongue fasciculations |
OMIM:162400 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Protruding tongue, Diastema, Unsteady gait, Gingival overgrowth, Wide mouth, Thin ve... |
OMIM:212066 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Ataxia, Protruding tongue, Obesity, Wide mouth, Widely spaced teeth, Gait imbal... |
ORPHA:98794 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Lymphedema, Thick lower lip vermilion, Lip telangiectasia, Hyp... |
OMIM:609242 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Recurrent skin infections, E... |
OMIM:308205 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia, Ataxia, Dysmetria |
OMIM:619352 |
Imerslund-Gräsbeck Syndrome |
|
Angular cheilitis, Weight loss, Pallor, Failure to thrive, Glossitis |
ORPHA:35858 |
Diffuse Cutaneous Systemic Sclerosis |
|
Carious teeth, Xerostomia, Skin ulcer, Malabsorption |
ORPHA:220393 |
Systemic Sclerosis |
|
Abnormal small intestine morphology, Barrett esophagus, Recurrent skin infections, Abnormal large... |
ORPHA:90291 |
X-Linked Dystonia-Parkinsonism |
|
Bradykinesia, Shuffling gait, Difficulty walking, Protruding tongue |
ORPHA:53351 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Maculopapular exanthema, Conical tooth, Erythema, Hyperkeratosis, Olig... |
OMIM:308300 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Failure to thrive in infancy, Pierre-Robin sequence, Cleft palate, Glos... |
OMIM:611209 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Lymphedema, Thickened skin, Skin ulcer, Thick vermilion border, Chylothorax, Scaling skin,... |
ORPHA:2526 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Dehydration, Gingivitis, Periodontitis, Death in infancy, Abnorma... |
ORPHA:534 |
Gm1-Gangliosidosis, Type Ii |
|
Ataxia, Protruding tongue, Gingival overgrowth, Gait disturbance, Narrow mouth, Failure to thrive |
OMIM:230600 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Narrow palate |
ORPHA:313892 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer, Weight loss |
ORPHA:86884 |
Hajdu-Cheney Syndrome |
|
Intestinal malrotation, Abnormality of the dentition, Open bite, Thickened skin, Cleft palate, Dr... |
ORPHA:955 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Palpebral edema, Ataxia, Protruding tongue, Small for gestational age, Deep... |
ORPHA:99843 |
Leukocyte Adhesion Deficiency, Type I |
|
Skin ulcer, Chronic mucocutaneous candidiasis, Gingivitis, Rectal abscess, Periodontitis |
OMIM:116920 |
Trisomy 8Q |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ... |
ORPHA:1752 |
Juvenile Dermatomyositis |
|
Skin rash, Palpebral edema, Pruritus, Erythema, Skin ulcer, Weight loss, Dry skin |
ORPHA:93672 |
Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer |
OMIM:604571 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili... |
ORPHA:1358 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma, Ataxia |
ORPHA:28378 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Hyperkeratosis, Abnormal dental enamel morphology, Ichthyosis |
ORPHA:1005 |
Bethlem Myopathy |
|
Waddling gait, Hyperkeratosis, Gait disturbance, Difficulty walking |
ORPHA:610 |
Acquired Purpura Fulminans |
|
Pyoderma gangrenosum, Skin rash, Macular purpura |
ORPHA:49566 |
Dyskeratosis Congenita |
|
Esophageal stenosis, Abnormality of the dentition, Carious teeth, Malabsorption, Tracheoesophagea... |
ORPHA:1775 |
Cushing Disease |
|
Acne, Intra-oral hyperpigmentation, Increased body weight, Recurrent cutaneous fungal infections,... |
ORPHA:96253 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Colitis, Failure to thrive in infancy |
OMIM:301220 |
Neutrophilic Dermatosis, Acute Febrile |
|
Cystic acne, Erythema, Pyoderma gangrenosum, Acne inversa |
OMIM:608068 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Esophageal stenosis, Ataxia, Downturned corners of mouth, Hyperkeratosis, Short philtrum |
OMIM:615510 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Failure to thrive, Malabsorption, Protruding tongue |
OMIM:242860 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Protruding tongue, Inability to walk, Steppage gait, Everted lower lip vermilion, Smooth philtrum |
ORPHA:324410 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth |
OMIM:615065 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis, Psoriasiform lesion |
OMIM:616298 |
Cowden Syndrome 5 |
|
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... |
OMIM:615108 |
Chand Syndrome |
|
Ataxia, Cleft palate, Agenesis of permanent teeth, Dry skin, Abnormal oral frenulum morphology, A... |
ORPHA:1401 |
Fucosidosis |
|
Failure to thrive, Generalized hyperkeratosis, Abnormality of the dentition |
ORPHA:349 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Wide mouth, Dry skin, Gingival overgrowth, Protruding tongue |
OMIM:618797 |
Hereditary Spherocytosis |
|
Skin ulcer, Maculopapular exanthema, Pallor, Ataxia |
ORPHA:822 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... |
OMIM:252100 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Failure to thrive in infancy, Abnormality of the d... |
ORPHA:193 |
9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Ataxia, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma o... |
ORPHA:2750 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Esophageal neoplasm, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Aden... |
ORPHA:79501 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Skin rash, Eczema, Ataxia, Erythema nodosum, Aphthous ulcer, Esophageal varix, Oral ulcer, Skin u... |
OMIM:615688 |
Toxic Epidermal Necrolysis |
|
Malabsorption, Intestinal perforation, Acantholysis, Erythema, Tracheoesophageal fistula, Skin ul... |
ORPHA:537 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Failure... |
OMIM:618874 |
Livedoid Vasculopathy |
|
Superficial dermal perivascular inflammatory infiltrate, Recurrent skin infections, Skin ulcer, P... |
ORPHA:542643 |
Amoebiasis Due To Free-Living Amoebae |
|
Unusual skin infection, Abnormality of taste sensation, Ataxia, Pustule, Skin ulcer, Lethargy, Ce... |
ORPHA:68 |
Eec Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Xerostomia, Orofacial cleft, Cleft palate, Hype... |
ORPHA:1896 |
Cryoglobulinemic Vasculitis |
|
Petechiae, Skin ulcer, Purpura |
ORPHA:91138 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Oral mucosal blisters, Erythema, Palmoplantar keratoderma, Smooth tong... |
ORPHA:79396 |
Juvenile Sialidosis Type 2 |
|
Ataxia, Protruding tongue, Gingival overgrowth, Dysmetria, Loss of ambulation |
ORPHA:93399 |
Cowden Syndrome 6 |
|
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... |
OMIM:615109 |
Reactive Arthritis |
|
Pustule, Weight loss, Joint swelling, Hyperkeratosis, Inflammation of the large intestine, Recurr... |
ORPHA:29207 |
Dominant Beta-Thalassemia |
|
Failure to thrive in infancy, Pallor, Skin ulcer, Abnormality of the dentition |
ORPHA:231226 |
Charcot-Marie-Tooth Disease Type 1F |
|
Tongue atrophy, Inability to walk, Unsteady gait, Limb ataxia, Gait ataxia, Steppage gait |
ORPHA:101085 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Cleft palate, Furrowed tongue, Downturned corners of mouth, Macrog... |
ORPHA:453499 |
Kleefstra Syndrome 1 |
|
Natal tooth, Protruding tongue, Persistence of primary teeth, Obesity, Macroglossia, Everted lowe... |
OMIM:610253 |
Noonan Syndrome 2 |
|
Polyhydramnios, Increased nuchal translucency, Hyperkeratosis, High palate, Palmoplantar cutis laxa |
OMIM:605275 |
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 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Hypogeusia, Acral ulceration |
OMIM:201300 |
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer |
ORPHA:2218 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... |
ORPHA:2752 |
Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Follicular hyperkeratosis, Chronic mucocutaneous candidiasis, Furrowed ... |
OMIM:158310 |
Cowden Syndrome 1 |
|
Colonic diverticula, Acrokeratosis, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous p... |
OMIM:158350 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis |
ORPHA:93346 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Polyhydramnios, Hamartoma of tongue, Edema... |
OMIM:269860 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, H... |
ORPHA:989 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Severe failure to ... |
ORPHA:1051 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Broad-based gait, Protruding tongue |
OMIM:614325 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Hyperkeratosis, Thick vermilio... |
ORPHA:79280 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... |
ORPHA:769 |
Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Bifid uvula, Polyhydramnios |
ORPHA:1427 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia |
ORPHA:1307 |
Charcot-Marie-Tooth Disease Type 4C |
|
Tongue atrophy, Inability to walk, Gait ataxia, Tongue fasciculations, Difficulty walking, Diffic... |
ORPHA:99949 |
6Q Terminal Deletion Syndrome |
|
High, narrow palate, Obesity, Dysmetria, Gait ataxia, Hyperkeratosis, Thick vermilion border, Fai... |
ORPHA:75857 |
Lethal Faciocardiomelic Dysplasia |
|
Microglossia, Narrow mouth |
ORPHA:1972 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... |
OMIM:616449 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Redundant neck skin, Protruding tongue, High, narrow palate, Unsteady gait, Macroglossia, High pa... |
OMIM:214100 |
Orofaciodigital Syndrome Vi |
|
Failure to thrive, Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, I... |
OMIM:277170 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Protruding tongue, Excessive wrinkled skin, Thick vermilion border, Narrow mout... |
OMIM:608779 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Failure to thrive, Gingival overgrowth, Protruding tongue |
OMIM:619179 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:440354 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Webbed neck, Anteriorly placed... |
OMIM:616894 |
Moebius Syndrome |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Ev... |
ORPHA:570 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Skin ulcer |
OMIM:613640 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ... |
ORPHA:958 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Premature loss of permanent teeth, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Scler... |
OMIM:610644 |
Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:601214 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentiti... |
ORPHA:1507 |
Raine Syndrome |
|
Natal tooth, Death in infancy, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, ... |
OMIM:259775 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Difficulty walking |
OMIM:617114 |
Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Hyperkeratosis, Decreased body w... |
OMIM:266270 |
Orofaciodigital Syndrome I |
|
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo... |
OMIM:311200 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Failure to thrive, Esophageal stenosis, Recurrent skin infections, Anal fissure, Carious teeth, E... |
ORPHA:89842 |
Restrictive Dermopathy 1 |
|
Natal tooth, Polyhydramnios, Epidermal hyperkeratosis, Submucous cleft hard palate, Stillbirth, T... |
OMIM:275210 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Death in infancy, Carious teeth, Thin vermilion border, Smooth tongue, Thin skin, Pr... |
OMIM:601559 |
Beta-Thalassemia Major |
|
Failure to thrive in infancy, Pallor, Skin ulcer, Abnormality of the dentition |
ORPHA:231214 |
Microscopic Polyangiitis |
|
Erythema, Skin rash, Skin ulcer |
ORPHA:727 |
Immunoglobulin A Vasculitis |
|
Skin rash, Edema, Pustule, Angioedema, Erythema, Skin ulcer, Purpura |
ORPHA:761 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Aglossia |
OMIM:241310 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Protruding tongue, Obesity, Downturned corners of mouth, Macroglossia, Everted lower lip vermilio... |
ORPHA:96147 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Acral ulceration |
OMIM:613115 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Inability to walk, Clef... |
ORPHA:464738 |
Granulomatosis With Polyangiitis |
|
Oral ulcer, Skin ulcer, Weight loss |
OMIM:608710 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... |
ORPHA:1452 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Microglossia, Polyhydramnios, Narrow mouth |
ORPHA:990 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis |
ORPHA:1809 |
Cowden Syndrome |
|
Ataxia, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, High pa... |
ORPHA:201 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Polyhydramnios, Carious teeth, Cleft lip, Pierre-Robin sequence... |
OMIM:117650 |
Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Acne, Pustule, Pyoderma gangrenosum, Inflammation o... |
ORPHA:3243 |
Hermansky-Pudlak Syndrome |
|
Abnormal dental enamel morphology, Malabsorption, Thickened skin, Weight loss, Hyperkeratosis |
ORPHA:79430 |
Dermatomyositis |
|
Edema, Periorbital edema, Gastrointestinal stroma tumor, Pruritus, Erythema, Skin ulcer, Weight l... |
ORPHA:221 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Dental crowding, Obesity, Narrow palate, High palate, Thick vermilion b... |
OMIM:616078 |
Chronic Graft Versus Host Disease |
|
Esophageal ulceration, Thickened skin, Esophageal stricture, Erythema, Xerostomia, Skin ulcer, We... |
ORPHA:99921 |
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 |
Warburg-Cinotti Syndrome |
|
Dental crowding, Erythema, Gingival overgrowth, Joint swelling, High palate, Thin skin, Follicula... |
OMIM:618175 |
Blau Syndrome |
|
Skin rash, Erythema nodosum, Erythema, Xerostomia, Skin ulcer, Joint swelling, Ichthyosis, Abnorm... |
ORPHA:90340 |
Developmental And Epileptic Encephalopathy 31B |
|
Failure to thrive, Gingival overgrowth, Protruding tongue |
OMIM:620352 |
Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... |
ORPHA:861 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Death in infancy, Thick lower lip vermilion, Gingival overgrowth, Downt... |
OMIM:619297 |
Tarp Syndrome |
|
Broad-based gait, Failure to thrive, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft pala... |
ORPHA:2886 |
Plague |
|
Chapped lip, Skin rash, Edema, Erythema nodosum, Unsteady gait, Enterocolitis, Skin ulcer, Inflam... |
ORPHA:707 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Ataxia, Protruding tongue, Inability to walk, Gait ataxia, Choreoathetosis |
OMIM:619580 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Protruding tongue, Inability to walk, Obesity, Wide mouth, Widely space... |
ORPHA:72 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Cleft soft palate, Polyhydramnios, Cutis laxa, Follicular hyperkeratosis |
OMIM:614557 |
Carey-Fineman-Ziter Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Microglossia, Failure to thrive |
OMIM:254940 |
Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
Catastrophic Antiphospholipid Syndrome |
|
Miscarriage, Skin ulcer |
ORPHA:464343 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Protruding tongue, Increased nuchal translucency, Hydrops fetalis, Stillbirth |
OMIM:200600 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Skin ulcer, Amelogenesis imperfecta |
OMIM:245660 |
Hypoglossia-Hypodactylia |
|
Microglossia, Aglossia, Narrow mouth |
OMIM:103300 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth, Xerostomia, Cl... |
OMIM:129900 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Hydrops fetalis, Dehydration, Stomatitis, Lethargy, Failure to thrive, Glossitis, Smooth ... |
ORPHA:79282 |
Granulomatosis With Polyangiitis |
|
Intestinal obstruction, Skin rash, Periorbital edema, Skin ulcer, Weight loss, Abnormal oral cavi... |
ORPHA:900 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Cleft palate, Glossoptosis, Webbed neck, Short hard palate |
ORPHA:1393 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Eclabion, Thin upper lip vermilion, Ataxia, Cleft soft palate, High, narrow palate, Deep philtrum... |
OMIM:619950 |
Glucagonoma |
|
Intestinal obstruction, Skin rash, Necrolytic migratory erythema, Pruritus, Weight loss, Steatorr... |
ORPHA:97280 |
Fontaine Progeroid Syndrome |
|
Thin upper lip vermilion, Death in infancy, Dermal translucency, Small for gestational age, Redun... |
OMIM:612289 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Glossoptosis, Cleft palate |
ORPHA:436003 |
Robinow Syndrome |
|
Dental crowding, Small for gestational age, Persistence of primary teeth, Dental malocclusion, Gi... |
ORPHA:97360 |
Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Ataxia, Polyhydramnios, Protruding tongue, High palate, Failure to thrive |
OMIM:617062 |
Leprechaunism |
|
Thickened skin, Rectal prolapse, Megarectum, Hyperkeratosis, Thick vermilion border, Decreased bo... |
ORPHA:508 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Protruding tongue, Inability to walk, Macroglossia, Decreased body weight, Open mouth, Cerebral e... |
ORPHA:258 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Acne, Neoplasm of the stomach, Intra-oral hyperpigmentation, Increased body weight, Recurrent cut... |
ORPHA:99889 |
Otopalatodigital Syndrome Type 2 |
|
Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Failure to thrive, ... |
ORPHA:90652 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Pelvis-Shoulder Dysplasia |
|
Thick anterior alveolar ridges, Microglossia, Cleft palate, Waddling gait |
ORPHA:2839 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal dental morphology, Eczema, Small for gestational age, Hyperkeratosis, Everted lower lip ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Abnormal dental morphology, Eczema, Small for gestational age, Hyperkeratosis, Everted lower lip ... |
ORPHA:363958 |
Atypical Werner Syndrome |
|
Lack of skin elasticity, Skin ulcer, Hyperkeratosis, Thin vermilion border, Thin skin, Decreased ... |
ORPHA:79474 |
Au-Kline Syndrome |
|
Failure to thrive, Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia, H... |
OMIM:616580 |
Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Failure to thrive, Pyloric stenosis, Gingival overgrowth, Anterior... |
OMIM:602535 |
Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis |
ORPHA:2583 |
Helsmoortel-Van Der Aa Syndrome |
|
Thin upper lip vermilion, Carious teeth, High, narrow palate, Thick lower lip vermilion, Obesity,... |
OMIM:615873 |
Icf Syndrome |
|
Macroglossia, Malabsorption, Protruding tongue |
ORPHA:2268 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Dental crowding, Excessive wrinkled skin, Thin skin, Follicular hyperkeratosis, Palmoplantar cuti... |
OMIM:225400 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormality of the dentition, Microglossia, Cleft palate, Cutis laxa, Anteriorly placed anus, Thi... |
OMIM:151050 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Dry skin, Hyperkeratosis, Stillbirth, Short philtrum, Death in childhood, Failu... |
OMIM:210710 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis |
ORPHA:2031 |
Blau Syndrome |
|
Eczema, Erythema nodosum, Skin ulcer, Joint swelling, Cystoid macular edema |
OMIM:186580 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue atrophy, Inability to walk, Atopic dermatitis, Tip-toe gait, Gait disturbance, Difficulty ... |
ORPHA:466768 |
Restrictive Dermopathy |
|
Natal tooth, Polyhydramnios, Epidermal hyperkeratosis, Narrow mouth, Submucous cleft hard palate,... |
ORPHA:1662 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Glossoptosis, Cleft palate |
ORPHA:94068 |
Wiskott-Aldrich Syndrome |
|
Eczema, Skin ulcer, Inflammation of the large intestine, Gingival bleeding, Petechiae, Purpura |
ORPHA:906 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth,... |
OMIM:604292 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... |
ORPHA:83617 |
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 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Acral ulceration, Spastic gait |
OMIM:256840 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,... |
OMIM:301040 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Cachexia, Esophageal varix, Limb ataxia, Skin ulcer, Gastric ulcer, Ecchymosis |
ORPHA:2072 |
Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, In... |
ORPHA:424016 |
Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, High palate, Short philtrum, Protruding tongue |
OMIM:300963 |
Fusariosis |
|
Pleural effusion, Maculopapular exanthema, Skin ulcer |
ORPHA:228119 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ... |
OMIM:268310 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Abnormal dental enamel morphology, Polyhydramnios, Abnormal dental morphol... |
ORPHA:818 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, Gait ataxia, Choreoathetosis,... |
OMIM:619777 |
Autosomal Dominant Robinow Syndrome |
|
Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the gingiva, Supernum... |
ORPHA:3107 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Median cleft lip, Failure to thrive in infancy, High, narrow palate... |
ORPHA:96149 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Ataxia, Inability to walk, Cleft palate, Downturned corners of mouth, Gait imbalance, Ankyloglossia |
ORPHA:488642 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per... |
OMIM:180700 |
Yunis-Varon Syndrome |
|
Redundant neck skin, Polyhydramnios, Premature loss of primary teeth, Abnormality of dental struc... |
ORPHA:3472 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Aganglionic megacolon, Abnormal dental enamel morphology, Eczema, Erythema, Cheilitis, Hyperkerat... |
ORPHA:2273 |
Leprosy |
|
Hyperkeratosis, Steppage gait, Penetrating foot ulcers, Acral ulceration |
ORPHA:548 |
Pallister-Hall Syndrome |
|
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Neonatal death, Microglossia,... |
OMIM:146510 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... |
ORPHA:2108 |
Fabry Disease |
|
Hyperkeratosis, Thick lower lip vermilion, Malabsorption, Lymphedema |
ORPHA:324 |
Joubert Syndrome 1 |
|
Macroglossia, Ataxia, Triangular-shaped open mouth, Protruding tongue |
OMIM:213300 |
Frontorhiny |
|
Bifid tongue, Cleft palate |
ORPHA:391474 |
1Q21.1 Microdeletion Syndrome |
|
Failure to thrive, Ankyloglossia, High palate, Long philtrum |
ORPHA:250989 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Thickened skin, Dental malocclusion, Epidermal thickening, Localized hypoplasia of dental enamel,... |
ORPHA:73223 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Broad-based gait, Ataxia, Ascites, Acral ulceration, Loss of ambulation, Failure to thrive |
OMIM:256810 |
De Sanctis-Cacchione Syndrome |
|
Choreoathetosis, Parakeratosis, Scissor gait, Ataxia |
OMIM:278800 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Adenocarcinoma of the colon |
OMIM:620189 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Difficulty walking, High palate, Thin skin, Follicular hyperkeratosis |
ORPHA:536545 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Inflammatory abnormality of the skin, Skin rash, Acantholysis, Intestinal perforation, Oral mucos... |
ORPHA:95455 |
Meckel Syndrome, Type 1 |
|
Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, Cleft palate, Wid... |
OMIM:249000 |
Stickler Syndrome |
|
Slender build, Abnormal dental enamel morphology, Cachexia, Cleft upper lip, Open bite, Cleft pal... |
ORPHA:828 |
Primary Sjögren Syndrome |
|
Erythema nodosum, Xerostomia, Skin ulcer, Dry skin, Parotitis, Purpura |
ORPHA:289390 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Obesity, Downturned corners of mouth, Glossoptosis, Macroglossia, High ... |
ORPHA:444077 |
Orofaciodigital Syndrome Type 14 |
|
Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle... |
ORPHA:434179 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Thin upper lip vermilion, Broad-based gait, Failure to thrive, Palpebral edema, Ataxia, Overweigh... |
OMIM:619475 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Failure to thrive, Small for gestational age, Abnormality of the dentit... |
ORPHA:1596 |
Lymphatic Filariasis |
|
Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema |
ORPHA:2035 |
Kawasaki Disease |
|
Skin rash, Edema, Cheilitis, Palmoplantar erythema, Glossitis |
ORPHA:2331 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Pyloric stenosis, Cleft palate, Narrow mouth, Anky... |
ORPHA:261330 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Redundant neck skin,... |
ORPHA:2729 |
Opitz Gbbb Syndrome |
|
Natal tooth, Cleft lip, Tracheoesophageal fistula, Cleft palate, Ectopic anus, High palate, Hypod... |
ORPHA:2745 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Hydrops fetalis, Cleft palate, Mic... |
OMIM:263520 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Pallor, Ganglioneuroma... |
ORPHA:653 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Polyhydramnios, Protruding tongue, Hydrops fetalis, Long philtrum |
ORPHA:50945 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... |
ORPHA:740 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cleft lip, Furrowed tongue, High palate, Broad alveolar ridges, Smooth philtrum, Duodenal atresia |
OMIM:616975 |
Microsporidiosis |
|
Cachexia, Glossitis, Dehydration, Weight loss |
ORPHA:2552 |
Simple Cryoglobulinemia |
|
Purpura, Acral ulceration, Weight loss |
ORPHA:91139 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration |
OMIM:608654 |
Catel-Manzke Syndrome |
|
Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi... |
OMIM:616145 |
Degcags Syndrome |
|
Jejunal atresia, Small for gestational age, Polyhydramnios, Protruding tongue, Hiatus hernia, Pyl... |
OMIM:619488 |
Cousin Syndrome |
|
Microglossia, Alveolar ridge overgrowth, Cleft palate |
OMIM:260660 |
Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer |
ORPHA:90307 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Aganglionic megacolon, Dental crowding, Eczema, Intestinal malrotation, Pyloric... |
OMIM:270400 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Recurrent skin infections, Anal fissure, Oral mucosal blisters, Carious t... |
ORPHA:79408 |
Meckel Syndrome |
|
Furrowed tongue, Aplasia/Hypoplasia of the tongue, Cleft palate, Oligohydramnios |
ORPHA:564 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasia of the epiglottis, Clef... |
OMIM:615948 |
Viss Syndrome |
|
Chronic gastritis, Failure to thrive, Duodenitis, Eczema, Polyhydramnios, Intestinal malrotation,... |
OMIM:619472 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Hypoplastic philtrum, Protruding tongue, Th... |
OMIM:309580 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Polyhydramnios, Carious teeth, Downturned corners of mouth... |
OMIM:620186 |
Fraser Syndrome |
|
Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial... |
ORPHA:2052 |
Down Syndrome |
|
Redundant neck skin, Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, A... |
OMIM:190685 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Acral ulceration |
OMIM:256800 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Polyhydramnios, Agenesis of incisor, Wide mouth, Widely spaced teeth, S... |
OMIM:619841 |
Proteus Syndrome |
|
Abnormal dental enamel morphology, Cachexia, Lymphedema, Carious teeth, Thickened skin, Tooth age... |
ORPHA:744 |
Leukocyte Adhesion Deficiency |
|
Severe periodontitis, Recurrent skin infections, Abnormality of the dentition, Perianal abscess, ... |
ORPHA:2968 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema |
OMIM:118650 |
Bilateral Perisylvian Polymicrogyria |
|
Dysmetria, Protruding tongue |
ORPHA:98889 |
Stüve-Wiedemann Syndrome |
|
Abnormality of the dentition, Smooth tongue, Oligohydramnios |
ORPHA:3206 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Seborrheic dermatitis |
ORPHA:276280 |
Choreoacanthocytosis |
|
Protruding tongue, Weight loss, Bradykinesia, Falls, Loss of ambulation |
ORPHA:2388 |
Carney Complex |
|
Neoplasm of the stomach, Esophageal neoplasm, Increased body weight, Neoplasm of the rectum, Abdo... |
ORPHA:1359 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Exaggerated median tongue furrow, Intestinal malrotation, Polyhydramnios, Submucous cleft lip, De... |
OMIM:312870 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Esophageal atresia, Hydrops fetalis, Ectopic anus, Long philtrum, Bifid tongue, ... |
ORPHA:93271 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Supernumerary tooth, Failure to thrive, Ankyloglossia |
OMIM:619525 |
Pallister-Hall Syndrome |
|
Natal tooth, Accessory oral frenulum, Large for gestational age, Cleft lip, Cleft palate, Microgl... |
ORPHA:672 |
Neuroocular Syndrome |
|
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... |
OMIM:619539 |
Microphthalmia, Syndromic 6 |
|
Cleft palate, High palate, Microglossia, Failure to thrive, Bifid uvula |
OMIM:607932 |
Split Cord Malformation |
|
Penetrating foot ulcers, Hydromyelia |
ORPHA:573278 |