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 |
Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Parakeratosis, Superficial dermal perivascular inflammatory infiltrate |
OMIM:618531 |
White Sponge Nevus 2 |
|
Hyperparakeratosis, Edema |
OMIM:615785 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal 1 |
|
Perioral hyperkeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous ... |
OMIM:613000 |
Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Hyperkeratosis, Palmoplantar keratoderma, Recurrent cutaneous fungal infections |
OMIM:244850 |
Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:617574 |
Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Parakeratosis, Linear arrays of macular hyperkeratoses in flexural areas, Honeycomb palmoplantar ... |
OMIM:601952 |
Vohwinkel Syndrome, Variant Form |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Orthokerat... |
OMIM:604117 |
Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Hyperkeratosis, Palmoplantar hyperkeratosis, Abnormality of the dentition |
OMIM:617756 |
Porokeratosis Plantaris Palmaris Et Disseminata |
|
Pruritus, Hyperkeratotic papule, Palmoplantar hyperkeratosis, Porokeratosis |
ORPHA:737 |
Porokeratosis Of Mibelli |
|
Pruritus, Hyperkeratosis, Porokeratosis |
ORPHA:735 |
Tylosis With Esophageal Cancer |
|
Parakeratosis, Diffuse palmoplantar hyperkeratosis, Esophageal carcinoma, Follicular hyperkeratos... |
OMIM:148500 |
Bazex Syndrome |
|
Parakeratosis, Edema, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Acanthosis nigricans, L... |
ORPHA:166113 |
Porokeratosis 7, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:614714 |
Porokeratosis 1, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175800 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis, Parakeratosis, Agitation, Self-injurious behavior |
OMIM:618339 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Infantile Digital Fibromatosis |
|
Hyperkeratosis, Parakeratosis |
ORPHA:199267 |
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type |
|
Hyperkeratosis with erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:86923 |
Congenital Panfollicular Nevus |
|
Pruritus, Hyperkeratosis |
ORPHA:139414 |
Palmoplantar Keratoderma, Punctate Type Iii |
|
Hyperkeratosis, Acrokeratosis |
OMIM:101850 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Parakeratosis, Hypergranulosis, Palmoplantar keratoderma, Orthokeratosis |
OMIM:173200 |
Olmsted Syndrome 2 |
|
Parakeratosis, Pruritus, Perioral hyperkeratosis, Cheilitis, Palmoplantar hyperkeratosis, Hyperke... |
OMIM:619208 |
Dermatoleukodystrophy |
|
Hyperkeratosis, Thickened skin |
ORPHA:1659 |
Ichthyosis Hystrix, Lambert Type |
|
Hyperkeratosis, Orthokeratotic hyperkeratosis |
OMIM:146600 |
Vulvovaginal Gingival Syndrome |
|
Pruritus, Parakeratosis, Oral ulcer, Gingivitis |
ORPHA:83453 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
Porokeratosis 3, Multiple Types |
|
Parakeratosis, Porokeratosis |
OMIM:175900 |
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Parakeratosis, Pruritus, Hyperkeratosis, Tooth agenesis, Palmoplantar keratoderma, Ichthyosis, Gi... |
OMIM:615821 |
Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Parakeratosis, Hypergranulosis, Honeycomb palmoplantar hyperkeratosis, Palmoplantar hyperkeratosi... |
ORPHA:79395 |
Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Parakeratosis, Palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplanta... |
OMIM:300918 |
Acrokeratosis Verruciformis |
|
Hyperkeratosis, Punctate palmoplantar hyperkeratosis, Acrokeratosis |
OMIM:101900 |
Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Parakeratosis, Erythroderma, Palmoplantar hyperkeratosis, Congenital ichthyosiform erythroderma, ... |
OMIM:242300 |
Peeling Skin Syndrome 6 |
|
Pruritus, Parakeratosis, Orthokeratosis, Atopic dermatitis |
OMIM:618084 |
Palmoplantar Keratoderma, Nagashima Type |
|
Orthokeratotic hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis |
OMIM:615598 |
Palmoplantar Keratoderma-Deafness Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:2202 |
Psoriasis 2 |
|
Hyperkeratosis, Parakeratosis, Psoriasiform dermatitis |
OMIM:602723 |
Epidermolytic Hyperkeratosis 2 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
OMIM:620150 |
Ichthyosis, Congenital, Autosomal Recessive 10 |
|
Hypergranulosis, Hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, General... |
OMIM:615024 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Parakeratosis, Pruritus, Pruritis on abdomen, Pruritus on foot, Pruritis on hand, Pruritis on bre... |
ORPHA:64745 |
Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Parakeratosis, Hyperkeratosis, Palmoplantar keratoderma, Generalized ichthyosis, Congenital nonbu... |
OMIM:612281 |
Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Parakeratosis, Pruritus, Hyperparakeratosis, Periorificial hyperkeratos... |
OMIM:614594 |
Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Parakeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Erythr... |
OMIM:604777 |
Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Death in infancy, Villous atrophy, Abnormal intestine morphology, Dehydration |
OMIM:251850 |
Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
Harlequin Ichthyosis |
|
Dehydration, Hyperkeratosis, Self-injurious behavior, Congenital ichthyosiform erythroderma, Icht... |
ORPHA:457 |
Chronic Hiccup |
|
Dehydration, Abnormal eating behavior |
ORPHA:396 |
Aquagenic Palmoplantar Keratoderma |
|
Edema, Atopic dermatitis, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Palmar pruritus |
ORPHA:498359 |
Bathing Suit Ichthyosis |
|
Parakeratosis, Thickened skin, Palmoplantar hyperkeratosis, Ichthyosis, Congenital nonbullous ich... |
ORPHA:100976 |
Ichthyosis Hystrix Of Curth-Macklin |
|
Hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Recurrent skin infections, Ichthyosis |
ORPHA:79503 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Parakeratosis, Palmoplantar hyperkeratosis, Oral mucosal blisters |
ORPHA:158681 |
Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
Netherton Syndrome |
|
Hypernatremic dehydration, Parakeratosis, Villous atrophy, Recurrent skin infections, Eczema, Ang... |
OMIM:256500 |
Melkersson-Rosenthal Syndrome |
|
Facial edema, Furrowed tongue |
OMIM:155900 |
Psoriasis 14, Pustular |
|
Parakeratosis, Psoriasiform dermatitis, Pustule, Furrowed tongue, Geographic tongue |
OMIM:614204 |
Ichthyosis, Annular Epidermolytic, 1 |
|
Hyperparakeratosis, Palmoplantar hyperkeratosis, Ichthyosis, Congenital bullous ichthyosiform ery... |
OMIM:607602 |
Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
Hypotrichosis Simplex Of The Scalp |
|
Parakeratosis, Abnormality of the dentition, Pruritus, Atopic dermatitis, Hyperkeratosis |
ORPHA:90368 |
Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Pruritus, Hyperkeratosis, Orthokeratotic hyperkeratosis, Congenital nonbullous ichthyosiform eryt... |
OMIM:617571 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Plantar hyperkeratosis, Abnormality of the dentition, Pruritus, Oral mucosal blisters, Hyperkerat... |
ORPHA:79399 |
Acrokeratosis Verruciformis Of Hopf |
|
Parakeratosis, Hypergranulosis, Acantholysis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
Lactase Deficiency, Congenital |
|
Lactose intolerance, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
Anonychia With Flexural Pigmentation |
|
Carious teeth, Hyperkeratosis, Follicular hyperkeratosis |
ORPHA:69125 |
Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
Lamellar Ichthyosis |
|
Abnormality of the dentition, Pruritus, Dehydration, Hyperkeratosis, Ichthyosis, Everted lower li... |
ORPHA:313 |
Familial Reactive Perforating Collagenosis |
|
Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Abnormal oral mu... |
ORPHA:79147 |
Ulerythema Ophryogenesis |
|
Miscarriage, Acne, Follicular hyperkeratosis, Hyperkeratotic papule, Contact dermatitis |
ORPHA:3406 |
Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617526 |
Lipoid Proteinosis |
|
Acne, Abnormal oral mucosa morphology, Pustule, Thickened skin, Abnormality of the gingiva, Thick... |
ORPHA:530 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Parakeratosis, Superficial dermal perivascular infl... |
ORPHA:284426 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Gingival overgrowth, Focal friction-related palmoplantar hyperkeratosis... |
ORPHA:2200 |
Graham Little-Piccardi-Lassueur Syndrome |
|
Pruritus, Perifollicular hyperkeratosis |
ORPHA:505 |
Chromomycosis |
|
Predominantly lower limb lymphedema, Edema, Lymphedema, Pruritus, Hyperparakeratosis, Hyperkerato... |
ORPHA:182 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Parakeratosis, Xerostomia, Hyperkeratosis, Ichthyosis, Acanthosis nigricans |
OMIM:618527 |
Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Recurrent cutaneous abscess formation, Perifolliculitis, Chronic furunculosis, Follicular hyperke... |
OMIM:613736 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Parakeratosis, Palmoplantar keratoderma, Follicular hyperkeratosis, Long philtrum |
OMIM:615225 |
Parana Hard Skin Syndrome |
|
Hyperkeratosis, Thickened skin |
ORPHA:2812 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Hyperkeratosis, Palmoplantar hyperkeratosis, Oral mucosal blisters |
ORPHA:89838 |
Lymphatic Malformation 4 |
|
Hyperkeratosis, Pedal edema, Lymphedema |
OMIM:615907 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Parakeratosis, Pruritus, Oligodontia, Hypodontia, Ichthyosis, Orthokeratosis, Enamel hypoplasia |
OMIM:607626 |
Acquired Ichthyosis |
|
Recurrent skin infections, Pruritus, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
ORPHA:454 |
Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Thickened skin, Ichthyosis, Palmoplantar ker... |
ORPHA:2897 |
Lymphatic Malformation 12 |
|
Nonimmune hydrops fetalis, Fetal ascites, Polyhydramnios, Lymphedema, Death in adolescence, Hyper... |
OMIM:620014 |
Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Hypergranulosis, Erythroderma |
OMIM:133200 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Intellectual Developmental Disorder, Fra12A Type |
|
Hyperkeratosis, Erythroderma |
OMIM:136630 |
Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
Epidermolytic Palmoplantar Keratoderma |
|
Hypergranulosis, Epidermal hyperkeratosis, Diffuse palmoplantar hyperkeratosis, Palmoplantar hype... |
ORPHA:2199 |
Neonatal Lupus Erythematosus |
|
Parakeratosis, Skin rash, Maculopapular exanthema, Hyperkeratosis, Malar rash |
ORPHA:398124 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Hyperkeratosis, Congenital bullous ichthyosiform erythroderma, Palmoplantar keratod... |
ORPHA:312 |
Ichthyosis, Congenital, Autosomal Recessive 9 |
|
Eclabion, Hypergranulosis, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma, Eryt... |
OMIM:615023 |
Lipoid Proteinosis Of Urbach And Wiethe |
|
Hyperkeratosis, Thickened skin, Aggressive behavior |
OMIM:247100 |
Keratoderma Hereditarium Mutilans |
|
Cleft palate, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis, Self-injurious behavior, Ich... |
ORPHA:494 |
Trichothiodystrophy 7, Nonphotosensitive |
|
Congenital nonbullous ichthyosiform erythroderma, Follicular hyperkeratosis, Ichthyosis |
OMIM:618546 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia, Dehydration, Long philtrum |
OMIM:618958 |
Central Diabetes Insipidus |
|
Polydipsia, Dehydration, Anorexia |
ORPHA:178029 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:311895 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
Recessive X-Linked Ichthyosis |
|
Hyperkeratosis, Attention deficit hyperactivity disorder, Ichthyosis |
ORPHA:461 |
Familial Cold Urticaria |
|
Pruritus, Polydipsia, Dehydration |
ORPHA:47045 |
Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Dehydration |
ORPHA:99886 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Pustule, Polyhydramnios, Dehydration |
OMIM:616069 |
Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Orthokeratosis, Hyperkeratosis, Hypergranulosis, Ichthyosis |
OMIM:613943 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Thin upper lip vermilion, Palmoplantar keratoderma, Follicular hyperkeratosis, Congenital bullous... |
OMIM:613576 |
Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar hyperkeratosis, Hyperkeratosis, Ichthyosis, Cobblestone-like hyperkeratosis, Palmopl... |
OMIM:602540 |
Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Hyperkeratosis, Sclerodactyly, Palmoplantar hyperkeratosis |
OMIM:212360 |
Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
Solar Urticaria |
|
Edema, Pruritus, Periorbital edema, Angioedema, Abnormal tongue morphology, Abnormal lip morphology |
ORPHA:97230 |
Chilblain Lupus |
|
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Hyperkeratosis, Pruritis on ... |
ORPHA:90280 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Hyperkeratosis, Palmoplantar keratoderma, Hypodo... |
OMIM:616029 |
Netherton Syndrome |
|
Skin rash, Eczema, Malabsorption, Dehydration, Ichthyosis, Congenital nonbullous ichthyosiform er... |
ORPHA:634 |
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
Reticular Dysgenesis |
|
Skin rash, Dehydration, Malabsorption |
ORPHA:33355 |
Atrophoderma Vermiculata |
|
Pruritus, Hyperkeratotic papule, Follicular hyperkeratosis |
ORPHA:79100 |
Lichen Planus Pemphigoides |
|
Pruritus, Hyperkeratosis, Abnormal oral mucosa morphology |
ORPHA:254478 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Enteric Anendocrinosis |
|
Dehydration, Malabsorption |
ORPHA:83620 |
Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
Palmoplantar Keratoderma, Punctate Type Ia |
|
Orthokeratosis, Punctate palmoplantar hyperkeratosis, Hypergranulosis |
OMIM:148600 |
Cole Disease |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis, Palmoplantar keratoderma, ... |
OMIM:615522 |
Ichthyosis Prematurity Syndrome |
|
Polyhydramnios, Pruritus, Generalized ichthyosis, Follicular hyperkeratosis, Erythroderma |
OMIM:608649 |
Classic Mycosis Fungoides |
|
Skin rash, Eczema, Edema, Pruritus, Hyperkeratosis |
ORPHA:2584 |
Pachyonychia Congenita 3 |
|
Chapped lip, Plantar hyperkeratosis, Gingivitis, Furrowed tongue, Palmoplantar keratoderma, Folli... |
OMIM:615726 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Edema, Dehydration |
ORPHA:103910 |
Hartnup Disorder |
|
Hyperactivity, Glossitis, Attention deficit hyperactivity disorder |
OMIM:234500 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Carious teeth, Dehydration, Death in childhood, Thin vermilion border,... |
OMIM:214150 |
Peeling Skin Syndrome 4 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Ichthyosis |
OMIM:607936 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Orthokeratosis, Hyperkeratosis, Palmoplantar keratoderma, Hypergranulosis |
OMIM:617525 |
Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans |
ORPHA:409 |
Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Orthokeratotic hyperkeratosis, Palmoplantar keratod... |
OMIM:148700 |
Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Hyperkeratosis, Palmoplantar keratoderma, Congenital nonbullous ichthyosiform erythroderma, Ichth... |
OMIM:606545 |
Pachyonychia Congenita 1 |
|
Oral leukoplakia, Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:167200 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Hyperkeratosis, Seborrheic dermatitis |
OMIM:610227 |
Congenital Short Bowel Syndrome |
|
Intestinal malrotation, Dehydration, Steatorrhea, Congenital shortened small intestine, Intestina... |
OMIM:615237 |
Mednik Syndrome |
|
Hyperkeratosis, Abnormal intestine morphology, Ichthyosis |
ORPHA:171851 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... |
ORPHA:3019 |
Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Neonatal death, Esophageal stenosis, Congenital pyloric atresia |
OMIM:619817 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Acantholysis, Pruritus, Punctate palmoplantar hyperkeratosis, Cheilitis, Hyper... |
OMIM:616295 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Parakeratosis, Cleft upper lip, Hyperkeratosis, Congenital ichthyosiform erythroderma, Stillbirth... |
OMIM:308050 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration, Anorexia |
ORPHA:79312 |
Ichthyosis, Annular Epidermolytic, 2 |
|
Orthokeratosis, Palmoplantar keratoderma, Palmoplantar hyperkeratosis, Ichthyosis |
OMIM:620148 |
Meige Disease |
|
Recurrent bacterial skin infections, Predominantly lower limb lymphedema, Recurrent skin infectio... |
ORPHA:90186 |
Rothmund-Thomson Syndrome, Type 1 |
|
Hyperkeratosis, Conical tooth |
OMIM:618625 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Malabsorption, Enter... |
ORPHA:95427 |
Autosomal Agammaglobulinemia |
|
Recurrent skin infections, Skin rash, Malabsorption, Dehydration, High palate |
ORPHA:33110 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Irida Syndrome |
|
Hyperkeratosis, Abnormal intestine morphology, Ichthyosis |
ORPHA:209981 |
Lichen Planopilaris |
|
Pruritus, Hyperkeratosis, Abnormal intestine morphology, Neoplasm of the oral cavity |
ORPHA:525 |
Flynn-Aird Syndrome |
|
Carious teeth, Hyperkeratosis |
OMIM:136300 |
Hypotrichosis 6 |
|
Pruritus, Follicular hyperkeratosis |
OMIM:607903 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Acrokeratoelastoidosis Of Costa |
|
Orthokeratosis, Hyperkeratotic papule, Hypergranulosis, Palmoplantar hyperkeratosis |
ORPHA:38 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Subungual hyperkeratosis, Natal tooth, Eczema, Cleft palate, Short philtrum, Orthokeratosis, Acne... |
OMIM:617337 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Pedal edema, Hyperkeratosis, Erysipelas |
ORPHA:79452 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Death in infancy |
OMIM:614876 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Death in adolescence, Dehydration, Death in childhood |
OMIM:560000 |
Glucose/Galactose Malabsorption |
|
Hypertonic dehydration, Malabsorption |
OMIM:606824 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Impulsivity, Compulsive behaviors, Dysphagia, Violent behavior |
ORPHA:216873 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Comedonal acne, Follicular hyperkeratosis |
OMIM:615147 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:613435 |
Microvillus Inclusion Disease |
|
Pruritus, Villous atrophy, Abnormal small intestinal villus morphology, Dehydration |
ORPHA:2290 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms, Dehydration, Malabsorption |
ORPHA:213 |
Syndromic Recessive X-Linked Ichthyosis |
|
Ichthyosis, Hyperkeratosis, Attention deficit hyperactivity disorder, Abnormal stomach morphology |
ORPHA:281090 |
Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:614669 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Gingivitis, Death in childhood, Hyperkeratosis, Congenital nonbullous ichthyosiform erythroderma,... |
OMIM:614457 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Superficial Epidermolytic Ichthyosis |
|
Ichthyosis, Palmoplantar keratoderma, Edema, Acantholysis |
ORPHA:455 |
Hypercalcemia, Infantile, 1 |
|
Dehydration |
OMIM:143880 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Malabsorption, Orofacial cleft, Deh... |
ORPHA:92050 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ichthyosis, Death in infancy, Dehydration, Oligohydramnios |
OMIM:208085 |
Proteus Syndrome |
|
Hyperkeratosis, Open mouth |
OMIM:176920 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
Erythrokeratodermia Variabilis |
|
Hyperkeratosis, Skin rash, Patchy palmoplantar hyperkeratosis |
ORPHA:317 |
Sjögren-Larsson Syndrome |
|
Hyperkeratosis, Abnormal dental enamel morphology, Ichthyosis |
ORPHA:816 |
Hereditary Mucoepithelial Dysplasia |
|
Hyperkeratosis, Tracheoesophageal fistula, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Dysphagia |
ORPHA:496689 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate |
ORPHA:141152 |
Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Cleft palate |
ORPHA:1388 |
Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Edema, Periorbital edema, Cheilitis, Furrowed tongue, Macro... |
ORPHA:2483 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Geophagia, Intra-oral hyperpigmentation, Cheilitis, Dysphagia, Esophageal web, Na... |
ORPHA:54028 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Hypergranulosis, Hyperkeratosis, Congenital ichthyosiform erythroderma, Palmoplantar keratoderma,... |
OMIM:242100 |
Schopf-Schulz-Passarge Syndrome |
|
Hyperkeratosis, Palmoplantar keratoderma, Hypodontia |
OMIM:224750 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Pruritus, Hyperkeratosis, Congenital ichthyosiform erythroderma, Conical primary incisor |
OMIM:602400 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
Acquired Hypertrichosis Lanuginosa |
|
Thickened skin, Macroglossia, Ichthyosis, Acanthosis nigricans, Glossitis |
ORPHA:2221 |
Carnitine Deficiency, Systemic Primary |
|
Dehydration |
OMIM:212140 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Parakeratosis, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermat... |
ORPHA:83617 |
Beta-Ketothiolase Deficiency |
|
Anorexia, Edema, Dehydration, Agitation, Oral aversion |
ORPHA:134 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
Fanconi Anemia, Complementation Group O |
|
Death in infancy, Miscarriage, Cryptorchidism, Rectal atresia, Neonatal death, Anal atresia |
OMIM:613390 |
Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, A... |
OMIM:615508 |
Propionic Acidemia |
|
Eczema, Dehydration |
OMIM:606054 |
Dend Syndrome |
|
Downturned corners of mouth, Dehydration, Long philtrum |
ORPHA:79134 |
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
Gaucher Disease, Perinatal Lethal |
|
Everted upper lip vermilion, Nonimmune hydrops fetalis, Polyhydramnios, Dysphagia, Hyperkeratosis... |
OMIM:608013 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hyperkeratosis, Lymphedema |
ORPHA:79279 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Ichthyosis, Hyperkeratosis, Eczema, Dysphagia |
OMIM:612379 |
Darier-White Disease |
|
Acrokeratosis, Acantholysis, Pruritus, Enlargement of parotid gland, Subungual hyperkeratotic fra... |
OMIM:124200 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Pustule, Atopic dermatitis, Dehydration |
ORPHA:171876 |
De Sanctis-Cacchione Syndrome |
|
Parakeratosis |
OMIM:278800 |
Monilethrix |
|
Follicular hyperkeratosis, Abnormality of the dentition |
ORPHA:573 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Hyperparakeratosis, Seborrheic dermatitis |
ORPHA:276280 |
Familial Benign Chronic Pemphigus |
|
Hyperkeratosis, Acantholysis |
ORPHA:2841 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Anorexia, Lymphedema, Malabsorption, Hypogeusia, Furrowed tongue, Hamartoma... |
ORPHA:2930 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
Congenital Disorder Of Glycosylation, Type If |
|
Hyperkeratosis, Thin vermilion border, Death in infancy, Erythroderma |
OMIM:609180 |
Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Hyperkeratosis, Malar rash, Cheilitis |
ORPHA:163525 |
Pachyonychia Congenita |
|
Natal tooth, Angular cheilitis, Linear arrays of macular hyperkeratoses in flexural areas, Palmop... |
ORPHA:2309 |
Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Plantar hyperkeratosis, Palmoplantar keratoderma, Epidermal hyperkeratosis |
OMIM:104100 |
Abcd Syndrome |
|
Neonatal death, Aganglionic megacolon, Total intestinal aganglionosis |
OMIM:600501 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Esophageal varix, Dehydration, Oligohydramnios |
OMIM:263200 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Polydipsia, Hypertonic dehydration |
OMIM:125800 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion |
OMIM:141300 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Polydipsia, Hypertonic dehydration |
OMIM:304800 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Wide mouth, Hyperkeratosis, Short philtrum, Death in infancy |
ORPHA:163966 |
Alternating Hemiplegia Of Childhood |
|
Exaggerated cupid's bow, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivity, D... |
ORPHA:2131 |
Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
Costello Syndrome |
|
Abnormal dental enamel morphology, Polyhydramnios, Abnormality of the dentition, Thick lower lip ... |
ORPHA:3071 |
Hidrotic Ectodermal Dysplasia |
|
Thickened skin, Palmoplantar hyperkeratosis, Cobblestone-like hyperkeratosis, Palmoplantar kerato... |
ORPHA:189 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Deep philtrum, Dehydration, Gingivitis, Periodontitis, Compulsive behaviors, Abn... |
ORPHA:534 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy, Dysphagia |
OMIM:158900 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Hyperkeratosis |
ORPHA:1883 |
Noonan Syndrome 8 |
|
Hyperkeratosis, Pleural effusion, Eczema, Polyhydramnios |
OMIM:615355 |
Lelis Syndrome |
|
Carious teeth, Palmoplantar hyperkeratosis, Furrowed tongue, Hypodontia, Acanthosis nigricans |
ORPHA:140936 |
Odontoonychodermal Dysplasia |
|
Plantar hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Abnormality of primary teet... |
OMIM:257980 |
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 |
Dowling-Degos Disease |
|
Pruritus, Hyperkeratosis, Hyperkeratotic papule, Acne inversa |
ORPHA:79145 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
High palate, Follicular hyperkeratosis |
OMIM:617066 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
Cardiofaciocutaneous Syndrome 3 |
|
Wide mouth, Hyperkeratosis |
OMIM:615279 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration |
OMIM:251000 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
Renal Hypoplasia |
|
Polydipsia, Dehydration |
ORPHA:93101 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
Whistling Face Syndrome, Recessive Form |
|
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia |
OMIM:277720 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Abnormal dental morphology, Abnormality of the dentition,... |
ORPHA:158668 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Recurrent bacterial skin infections, Furrowed tongue, Hyperkeratosis, Ichthyosis, Microdontia, Or... |
OMIM:148210 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Aggressive behavior, Narrow palate, Self-injur... |
ORPHA:313892 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Skin rash, Edema, Carious teeth, Hyperkeratosis, Palmoplantar keratoderma... |
OMIM:604173 |
Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
Chronic Mucocutaneous Candidiasis |
|
Skin rash, Abnormal dental enamel morphology, Pruritus, Cheilitis, Hyperkeratosis, Abnormal lip m... |
ORPHA:1334 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Skin rash, Pustule, Joint swelling, Hyperkeratosis, Stomatitis |
OMIM:612852 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Gist-Plus Syndrome |
|
Gastrointestinal stroma tumor, Intussusception, Intestinal polyposis |
OMIM:175510 |
Osteootohepatoenteric Syndrome |
|
Pruritus, Villous atrophy, Ileoileal intussusception, Dehydration |
OMIM:619377 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Dehydration |
OMIM:615453 |
Pearson Marrow-Pancreas Syndrome |
|
Villous atrophy, Anorexia, Malabsorption, Hydrops fetalis, Dehydration, Death in childhood, Steat... |
OMIM:557000 |
Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Esophageal varix, Hyperkeratosis, Inflammation of the large intestine, Peau d'o... |
OMIM:614576 |
Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Hyperkeratosis, Thick vermilio... |
ORPHA:79280 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
Congenital Disorder Of Glycosylation, Type Im |
|
Ichthyosis, Hyperkeratosis, Inflammatory abnormality of the skin, Death in infancy |
OMIM:610768 |
Mednik Syndrome |
|
Death in infancy, Jejunal atresia, Death in childhood, Neonatal death, Volvulus, Microcolon |
OMIM:609313 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration |
OMIM:616271 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Furrowed tongue, Everted lower lip vermilion, High palate, Short philtrum, Tooth malposition |
ORPHA:1387 |
Intussusception |
|
Intussusception |
OMIM:147710 |
Mulibrey Nanism |
|
Dental crowding, Dental malocclusion, Hydrops fetalis, Hypodontia, Microglossia, Ascites, Enamel ... |
OMIM:253250 |
Wolcott-Rallison Syndrome |
|
Ascites, Dehydration |
ORPHA:1667 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Dehydration |
OMIM:214700 |
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Eclabion, Generalized hyperkeratosis, Generalized ichthyosis |
ORPHA:2269 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Folliculitis, Palmoplantar keratoderma, Follicular hyperkeratosis |
OMIM:308800 |
Angelman Syndrome Due To A Point Mutation |
|
Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth, Widely spaced teeth, I... |
ORPHA:411511 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
High palate, Follicular hyperkeratosis |
ORPHA:486815 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Eczema, Abnormality of the dentition, Xerostomia, Hyperkeratosis, Too... |
ORPHA:238468 |
Ring Chromosome 22 Syndrome |
|
Edema, Protruding tongue, Lymphedema, Inappropriate behavior, Thick vermilion border, Pleural eff... |
ORPHA:1446 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polydipsia, Polyhydramnios, Anorexia |
ORPHA:223 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Anorexia, Edema, Dehydration |
ORPHA:20 |
Shigellosis |
|
Anorexia, Intestinal perforation, Ulcerative colitis, Dehydration, Paralytic ileus, Acute colitis |
ORPHA:810 |
Faciocardiomelic Dysplasia, Lethal |
|
Neonatal death, Microglossia, Narrow mouth |
OMIM:227270 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Gingival overgrowth, Dehydration, Macroglossia, High palate, Oligohydramnios |
ORPHA:96191 |
Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
Cholera |
|
Miscarriage, Dehydration |
ORPHA:173 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Spinocerebellar Ataxia 34 |
|
Epidermal hyperkeratosis, Erythroderma |
OMIM:133190 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... |
OMIM:174300 |
Oligomeganephronia |
|
Polydipsia, Dehydration |
ORPHA:2260 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Polyhydra... |
ORPHA:2759 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Hydrops fetalis, Dehydration, Stomatitis, Glossitis, Smooth philtrum |
ORPHA:79282 |
Leopard Syndrome 3 |
|
Hyperkeratosis, Epidermal hyperkeratosis |
OMIM:613707 |
Pyruvate Carboxylase Deficiency |
|
Anorexia, Dehydration, Abnormal temper tantrums, Compulsive behaviors, Recurrent hand flapping |
ORPHA:3008 |
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 |
Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... |
ORPHA:137888 |
Methylmalonic Aciduria, Cblb Type |
|
Dehydration |
OMIM:251110 |
Bazex-Dupre-Christol Syndrome |
|
Atopic dermatitis, Eczema, Acne inversa, Furrowed tongue |
OMIM:301845 |
Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
Donohue Syndrome |
|
Thick lower lip vermilion, Gingival overgrowth, Wide mouth, Hyperkeratosis, Acanthosis nigricans |
OMIM:246200 |
Hypotrichosis And Recurrent Skin Vesicles |
|
Angular cheilitis, Follicular hyperkeratosis |
OMIM:613102 |
Agnathia-Otocephaly Complex |
|
Polyhydramnios, Aglossia, Cleft palate, Narrow mouth, Microglossia |
OMIM:202650 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Prolidase Deficiency |
|
Pruritus, Carious teeth, Crusting erythematous dermatitis, Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:742 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:620269 |
Familial Keratoacanthoma |
|
Hyperkeratosis |
ORPHA:493 |
Sacral Agenesis With Vertebral Anomalies |
|
Neonatal death, Anal atresia, Persistent cloaca |
OMIM:615709 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Palpebral edema, Nonimmune hydrops fetalis, Epidermal hyperkeratosis, Lymphedema, Thick vermilion... |
OMIM:137940 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Glossoptosis, Cleft palate, Aggressive behavior |
OMIM:618356 |
Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Premature loss of primary teeth, Abnormality of the dentition, Pustule, Open bite, Xerost... |
ORPHA:2907 |
Kindler Epidermolysis Bullosa |
|
Recurrent skin infections, Abnormal dental enamel morphology, Premature loss of primary teeth, Ca... |
ORPHA:2908 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... |
OMIM:620107 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Bifid tongue, Abnormal pala... |
ORPHA:3241 |
Hypomandibular Faciocranial Dysostosis |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Polyhydramnios, Cleft palate, Narrow mouth, B... |
ORPHA:1790 |
Trichothiodystrophy 1, Photosensitive |
|
Death in infancy, Intestinal obstruction, Malabsorption, Hyperkeratosis, Congenital nonbullous ic... |
OMIM:601675 |
Methylmalonic Aciduria, Cbla Type |
|
Dehydration |
OMIM:251100 |
Cardiofaciocutaneous Syndrome 1 |
|
Polyhydramnios, Abnormality of the dentition, Open bite, Deep philtrum, Submucous cleft hard pala... |
OMIM:115150 |
Holzgreve Syndrome |
|
Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate, Oligohydramnios |
ORPHA:2167 |
Sialidosis Type 1 |
|
Hyperkeratosis, Thick lower lip vermilion |
ORPHA:812 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hyperactivity, Protruding tongue, Abnormal eating behavior, Tongue thrusting, Wide mouth, Widely ... |
ORPHA:98794 |
Punctate Palmoplantar Keratoderma Type 1 |
|
Hypergranulosis, Esophageal neoplasm, Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Aden... |
ORPHA:79501 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Intestinal perforation, Rectal prolapse, Colonic stenosis, Dehydration, Intussusception, Acute co... |
ORPHA:90038 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:90791 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Dehydration |
ORPHA:411629 |
Hypoglossia With Situs Inversus |
|
Microglossia, High palate, Hypodontia, Narrow mouth |
OMIM:612776 |
Neuroleptic Malignant Syndrome |
|
Agitation, Dehydration, Dysphagia |
ORPHA:94093 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Esophageal stenosis, Downturned corners of mouth, Hyperkeratosis, Short philtrum, Dysphagia |
OMIM:615510 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis |
ORPHA:1809 |
Tyrosinemia Type 2 |
|
Hyperkeratosis, Palmoplantar keratoderma |
ORPHA:28378 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Anorexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Glossitis |
OMIM:175500 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Bone Marrow Failure Syndrome 3 |
|
Hyperactivity, Eczema, Oral ulcer, Downturned corners of mouth, Hyperkeratosis, Hypodontia, Micro... |
OMIM:617052 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis |
ORPHA:36386 |
Acrodermatitis Enteropathica |
|
Anorexia, Malabsorption, Pustule, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis |
ORPHA:37 |
Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... |
OMIM:258860 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
Microsporidiosis |
|
Glossitis, Dehydration, Anorexia |
ORPHA:2552 |
Pallister-Hall-Like Syndrome |
|
Death in infancy, Microglossia, Median cleft lip, Cleft palate |
OMIM:241800 |
Vipoma |
|
Anorexia, Ascites, Dehydration, Malabsorption |
ORPHA:97282 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Tarp Syndrome |
|
Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Meckel diverticulum, Oli... |
OMIM:311900 |
Cowden Syndrome 5 |
|
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... |
OMIM:615108 |
Lysosomal Acid Lipase Deficiency |
|
Pruritus, Esophageal varix, Dehydration, Steatorrhea, Ascites |
ORPHA:275761 |
Arthrogryposis And Ectodermal Dysplasia |
|
Abnormal dental enamel morphology, Cleft upper lip, Orofacial cleft, Cleft palate, Hyperkeratosis... |
OMIM:601701 |
Kid Syndrome |
|
Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit... |
ORPHA:477 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Sclerodactyly, Premature loss of permane... |
OMIM:610644 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations, Attention deficit hyperactivity disorder, Dysphagia |
ORPHA:276198 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Microcolon |
OMIM:619362 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Hyperkeratosis, Abnormality of the dentition |
ORPHA:1806 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Protruding tongue, Tongue thrusting, Wide mouth, Widely spaced teeth, Dysphagia |
ORPHA:98795 |
Pearson Syndrome |
|
Hydrops fetalis, Dehydration, Dysphagia, Corneal stromal edema, Steatorrhea, Median cleft lip and... |
ORPHA:699 |
Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Macrodontia, Protruding tongue, Diastema, Aggressive behavior, Gingival overgrowth, Wide mouth, T... |
OMIM:212066 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Recurrent skin infections, Abnormal oral mucosa morphology, Edema, Esopha... |
ORPHA:79404 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Glossoptosis, Submucous cleft hard palate, Hypodontia |
ORPHA:3201 |
Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Hyperkeratosis, Abnormal dental enamel morphology, Ichthyosis |
ORPHA:1005 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Delayed eruption of primary teeth, Cleft palate, Glossoptosis, Everted lower lip... |
OMIM:616367 |
Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
Kleefstra Syndrome 1 |
|
Natal tooth, Protruding tongue, Persistence of primary teeth, Aggressive behavior, Macroglossia, ... |
OMIM:610253 |
Cowden Syndrome 6 |
|
Colonic diverticula, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous polyposis, High ... |
OMIM:615109 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia |
OMIM:614153 |
Distal Renal Tubular Acidosis |
|
Polydipsia, Dehydration |
ORPHA:18 |
Kanzaki Disease |
|
Telangiectasia of the oral mucosa, Lymphedema, Thick lower lip vermilion, Lip telangiectasia, Hyp... |
OMIM:609242 |
Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Hyperactivity, Dental crowding, Aggressive behavior, Narrow palate, Sel... |
OMIM:616078 |
Acute Radiation Syndrome |
|
Hyperkeratosis, Inflammatory abnormality of the skin |
ORPHA:454831 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Impulsivity, Aggressive behavior, Thickened skin, Dental malocclusion, Localized hypoplasia of de... |
ORPHA:73223 |
Mucoepithelial Dysplasia, Hereditary |
|
Erythematous oral mucosa, Follicular hyperkeratosis, Chronic mucocutaneous candidiasis, Furrowed ... |
OMIM:158310 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Hyperactivity, Eczema, Polyhydramnios, Hyperkeratosis, High palate, Attention deficit hyperactivi... |
OMIM:607721 |
Naxos Disease |
|
Subungual hyperkeratosis, Acantholysis, Diffuse palmoplantar hyperkeratosis, Hyperkeratosis, Palm... |
OMIM:601214 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Downturned corners of mouth, Dehydration |
ORPHA:99885 |
Mandibuloacral Dysplasia |
|
Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, High palate, Acanthosis nigricans |
ORPHA:2457 |
Proximal Renal Tubular Acidosis |
|
Polydipsia, Enamel hypomineralization, Dehydration, Malabsorption |
ORPHA:47159 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Dehydration |
ORPHA:411634 |
Oculocutaneous Albinism Type 1A |
|
Hyperkeratosis, Thickened skin |
ORPHA:79431 |
Joubert Syndrome 18 |
|
Lobulated tongue, Cleft palate |
OMIM:614815 |
Hartnup Disease |
|
Glossitis, Skin rash, Gingivitis, Malabsorption |
ORPHA:2116 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
Cowden Syndrome 1 |
|
Colonic diverticula, Acrokeratosis, Palmoplantar hyperkeratosis, Furrowed tongue, Hamartomatous p... |
OMIM:158350 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Hyperactivity, Restlessness, Aggressive behavior, Diastema, Furrowed to... |
OMIM:300534 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... |
ORPHA:364577 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Death in child... |
OMIM:612938 |
Moebius Syndrome |
|
Death in infancy, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Ev... |
ORPHA:570 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Thickened skin, Narrow philtrum, Palmoplantar hyperkeratosis, Corneal ... |
OMIM:601812 |
Generalized Pustular Psoriasis |
|
Pustule, Cheilitis, Pedal edema, Palmoplantar pustulosis, Erythroderma, Geographic tongue |
ORPHA:247353 |
Cardiofaciocutaneous Syndrome |
|
Lymphedema, Submucous cleft hard palate, Hyperkeratosis, Ichthyosis, Palmoplantar keratoderma, Hi... |
ORPHA:1340 |
Ullrich Congenital Muscular Dystrophy 1 |
|
High palate, Follicular hyperkeratosis |
OMIM:254090 |
Gracile Bone Dysplasia |
|
Death in infancy, Ascites, Ankyloglossia |
OMIM:602361 |
Reactive Arthritis |
|
Pustule, Joint swelling, Hyperkeratosis, Inflammation of the large intestine, Recurrent aphthous ... |
ORPHA:29207 |
Trisomy 8Q |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ... |
ORPHA:1752 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Protruding tongue, Stereotypical hand wringing, Upper eyelid edema, Everted lower lip vermilion, ... |
OMIM:617804 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion... |
ORPHA:870 |
Chime Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Hype... |
ORPHA:3474 |
Cystinosis, Nephropathic |
|
Polydipsia, Dysphagia, Dehydration, Oral-pharyngeal dysphagia |
OMIM:219800 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Impulsivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Attention deficit hyperact... |
OMIM:619580 |
Angelman Syndrome |
|
Hyperactivity, Protruding tongue, Aggressive behavior, Tongue thrusting, Wide mouth, Self-injurio... |
ORPHA:72 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Tongue fasciculations, Dysphagia, Death in childhood |
OMIM:211530 |
Carey-Fineman-Ziter Syndrome |
|
Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Glossoptosis, Thin vermili... |
ORPHA:1358 |
Hyperoxaluria, Primary, Type I |
|
Dehydration |
OMIM:259900 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Noonan Syndrome 10 |
|
Increased nuchal translucency, Hyperkeratosis, Pleural effusion, High palate |
OMIM:616564 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Hyperkeratosis, Colitis |
OMIM:301220 |
Cystic Fibrosis |
|
Meconium ileus, Rectal prolapse, Ileus, Dehydration, Steatorrhea |
OMIM:219700 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Microglossia, Polyhydramnios, Narrow mouth |
ORPHA:990 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... |
OMIM:252100 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth |
OMIM:615065 |
X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Glossoptosis, Skin rash, Malabsorption |
ORPHA:47 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Increased nuchal translucency, Cleft palate, Furrowed tongue, Downturned corners of mouth, Macrog... |
ORPHA:453499 |
Marburg Hemorrhagic Fever |
|
Skin rash, Maculopapular exanthema, Anorexia, Aggressive behavior, Dehydration |
ORPHA:99826 |
Noonan Syndrome 2 |
|
Hyperkeratosis, Increased nuchal translucency, High palate, Polyhydramnios |
OMIM:605275 |
Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Bifid uvula, Polyhydramnios |
ORPHA:1427 |
Werner Syndrome |
|
Hyperkeratosis, Miscarriage, Neoplasm of the oral cavity |
ORPHA:902 |
Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis |
ORPHA:2583 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Polyhydramnios, Hamartoma of tongue, Edema... |
OMIM:269860 |
Angelman Syndrome |
|
Hyperactivity, Protruding tongue, Wide mouth, Macroglossia, Widely spaced teeth, Paroxysmal burst... |
OMIM:105830 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:289548 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Abnormal dental morphology, Skin rash, Abnormal dental enamel morpholo... |
ORPHA:464 |
Developmental And Epileptic Encephalopathy 80 |
|
Death in infancy, Tented upper lip vermilion, Protruding tongue, Wide mouth, High palate, Long ph... |
OMIM:618580 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Long upper... |
OMIM:608670 |
Hypoglossia-Hypodactyly Syndrome |
|
Death in infancy, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, H... |
ORPHA:989 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High palate, Thick v... |
OMIM:618106 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ... |
ORPHA:958 |
Tetraamelia Syndrome 2 |
|
Glossoptosis, Ankyloglossia, Bilateral cleft lip, Cleft palate |
OMIM:618021 |
Bartter Syndrome, Type 2, Antenatal |
|
Polydipsia, Polyhydramnios, Dehydration |
OMIM:241200 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow ... |
OMIM:611209 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis, Anorexia |
ORPHA:90045 |
Multiple Endocrine Neoplasia Type 1 |
|
Duodenal ulcer, Peptic ulcer, Anorexia, Gingival fibromatosis, Dehydration |
ORPHA:652 |
Fucosidosis |
|
Generalized hyperkeratosis, Abnormality of the dentition |
ORPHA:349 |
Hermansky-Pudlak Syndrome |
|
Abnormal dental enamel morphology, Anorexia, Malabsorption, Thickened skin, Hyperkeratosis |
ORPHA:79430 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Lobulated tongue, Bifid u... |
ORPHA:2752 |
9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Ichthyosis follicularis, Subungual hyperkeratosis, Death in infancy, Recurrent skin infections, E... |
OMIM:308205 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Acanthosis nigricans, Furrowe... |
ORPHA:769 |
Seckel Syndrome 2 |
|
Microdontia, Microglossia |
OMIM:606744 |
Eec Syndrome |
|
Abnormal dental enamel morphology, Carious teeth, Xerostomia, Orofacial cleft, Cleft palate, Hype... |
ORPHA:1896 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia |
ORPHA:1307 |
9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology |
ORPHA:531151 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... |
OMIM:616449 |
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 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Maculopapular exanthema, Conical tooth, Hyperkeratosis, Oligodontia, H... |
OMIM:308300 |
Orofaciodigital Syndrome I |
|
Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernumerary tooth, Alveo... |
OMIM:311200 |
Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentiti... |
ORPHA:1507 |
Ramon Syndrome |
|
Delayed eruption of teeth, Hyperkeratosis, Gingival fibromatosis, Narrow palate |
OMIM:266270 |
Congenital Sialidosis Type 2 |
|
Ascites, Gingival overgrowth, Edema, Protruding tongue |
ORPHA:93400 |
Agel Amyloidosis |
|
Tongue atrophy, Edema, Pruritus, Xerostomia, Blepharochalasis |
ORPHA:85448 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis |
ORPHA:93346 |
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 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Xerostomia, Smooth tongue, Narrow mouth, Self-mutilation, L... |
ORPHA:1051 |
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 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy, Dysphagia |
OMIM:617114 |
Bartter Syndrome Type 4 |
|
Polyhydramnios, Dehydration |
ORPHA:89938 |
Lethal Faciocardiomelic Dysplasia |
|
Microglossia, Narrow mouth |
ORPHA:1972 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Skin rash, Tracheoesophageal fistula, High palate, Stomatitis, Glossitis |
OMIM:277380 |
Hypoglossia-Hypodactylia |
|
Microglossia, Aglossia, Narrow mouth |
OMIM:103300 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Death in infancy, Abnormal repetitive mannerisms, Thick lower lip vermi... |
OMIM:619297 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Hyperkeratosis, Adenocarcinoma of the colon |
OMIM:620189 |
Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:440354 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... |
ORPHA:1452 |
Raine Syndrome |
|
Natal tooth, Death in infancy, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, ... |
OMIM:259775 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Aglossia |
OMIM:241310 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Gingival overgrowth, Stereotypical hand wringing, Protruding tongue |
OMIM:619179 |
Bartter Syndrome, Type 1, Antenatal |
|
Polyhydramnios, Dehydration |
OMIM:601678 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Protruding tongue, Increased nuchal translucency, Hydrops fetalis, Stillbirth |
OMIM:200600 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... |
ORPHA:2751 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Miscarriage, Acne, Dehydration |
ORPHA:90794 |
Developmental And Epileptic Encephalopathy 31B |
|
Choking episodes, Gingival overgrowth, Protruding tongue |
OMIM:620352 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Stomatitis, Skin rash, Glossitis, Cleft palate |
ORPHA:79284 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Aggressive behavior, High, narrow palate, Cl... |
ORPHA:464738 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Polyhydramnios, Protruding tongue, High palate, Attention deficit hyper... |
OMIM:617062 |
Cohen Syndrome |
|
Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, High, narrow palate,... |
ORPHA:193 |
Juvenile Sialidosis Type 2 |
|
Gingival overgrowth, Dysphagia, Protruding tongue |
ORPHA:93399 |
Lymphatic Filariasis |
|
Hyperkeratosis, Predominantly lower limb lymphedema, Lymphedema |
ORPHA:2035 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Recurrent skin infections, Oral mucosal blisters, Palmoplantar keratoderma, Smooth tongue, Enamel... |
ORPHA:79396 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Death in infancy, Carious teeth, Thin vermilion border, Smooth tongue, Dysphagia, Ol... |
OMIM:601559 |
Orofaciodigital Syndrome Type 6 |
|
Hamartoma of tongue, Midline notch of upper alveolar ridge, Cleft palate, Lobulated tongue, Abnor... |
ORPHA:2754 |
Carey-Fineman-Ziter Syndrome 1 |
|
Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Dysphagia, Microglossia |
OMIM:254940 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Polyhydramnios, Carious teeth, Cleft lip, Pierre-Robin sequence... |
OMIM:117650 |
Orofaciodigital Syndrome Type 1 |
|
Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenulum, Hamartoma of tongue... |
ORPHA:2750 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Recurrent skin infections, Anal fissure, Carious teeth, Esophageal stricture... |
ORPHA:89842 |
X-Linked Dystonia-Parkinsonism |
|
Impaired oropharyngeal swallow response, Protruding tongue |
ORPHA:53351 |
Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
Orofaciodigital Syndrome Vi |
|
Hamartoma of tongue, Accessory oral frenulum, Cleft upper lip, Cleft palate, Incomplete cleft of ... |
OMIM:277170 |
Fabry Disease |
|
Anorexia, Malabsorption, Lymphedema, Thick lower lip vermilion, Hyperkeratosis |
ORPHA:324 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Gingival overgrowth, Dysphagia, Narrow mouth |
OMIM:230600 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Compulsive behaviors, Microdontia, Advance... |
OMIM:615873 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Downturned corners of mouth, Short philtrum, Widely spaced te... |
OMIM:619950 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malabsorption, Protruding tongue |
OMIM:242860 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of permanent teeth, A... |
OMIM:616894 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Abnormal dental enamel morphology, Polyhydramnios, Abnormal dental morphol... |
ORPHA:818 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Bilateral cleft lip and palate, High palate, Enamel hypoplasia, Ankylog... |
OMIM:618874 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Protruding tongue, Diastema, Thick lower lip vermilion, Widely-spaced maxillary central incisors,... |
OMIM:301040 |
Glucagonoma |
|
Intestinal obstruction, Skin rash, Anorexia, Pruritus, Steatorrhea, Stomatitis, Ascites, Glossitis |
ORPHA:97280 |
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 |
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 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, High, narrow palate, Pyloric stenosis, Cleft palate, Tics, Compulsive b... |
ORPHA:261330 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Wide mouth, Gingival overgrowth, Protruding tongue |
OMIM:618797 |
Treacher-Collins Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Abnorm... |
ORPHA:861 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
Marshall-Smith Syndrome |
|
Open mouth, Gingival overgrowth, Protruding tongue |
ORPHA:561 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Glossoptosis, Cleft palate |
ORPHA:436003 |
Joubert Syndrome 1 |
|
Hyperactivity, Protruding tongue, Aggressive behavior, Macroglossia, Triangular-shaped open mouth... |
OMIM:213300 |
Cowden Syndrome |
|
Furrowed tongue, Hamartomatous polyposis, Macroglossia, Palmoplantar keratoderma, High palate, Co... |
ORPHA:201 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Follicular hyperkeratosis, Polyhydramnios, Cleft soft palate |
OMIM:614557 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Protruding tongue, High, narrow palate, Dysphagia, Macroglossia, High palate, Death in childhood |
OMIM:214100 |
Restrictive Dermopathy 1 |
|
Natal tooth, Polyhydramnios, Epidermal hyperkeratosis, Submucous cleft hard palate, Stillbirth, N... |
OMIM:275210 |
Au-Kline Syndrome |
|
Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia, High palate, Attenti... |
OMIM:616580 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Abnormal dental morphology, Eczema, Hyperkeratosis, Everted lower lip vermilion, Inappropriate la... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Abnormal dental morphology, Eczema, Hyperkeratosis, Everted lower lip vermilion, Inappropriate la... |
ORPHA:363958 |
Warburg-Cinotti Syndrome |
|
Dental crowding, Gingival overgrowth, Joint swelling, High palate, Follicular hyperkeratosis |
OMIM:618175 |
Icf Syndrome |
|
Macroglossia, Malabsorption, Protruding tongue |
ORPHA:2268 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Protruding tongue, Macroglossia, Dysphagia, Open mouth, Cerebral edema |
ORPHA:258 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hyperkeratosis with erythema |
OMIM:118650 |
Charcot-Marie-Tooth Disease Type 1F |
|
Restless legs, Tongue atrophy |
ORPHA:101085 |
Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... |
ORPHA:97360 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Death in infancy, Protruding tongue, Thick vermilion border, Narrow mouth, Smooth philtrum |
OMIM:608779 |
Distal Deletion 12Q |
|
Late onset atopic dermatitis, Hyperactivity, Median cleft lip, High, narrow palate, Supernumerary... |
ORPHA:96149 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Downturned corners of mouth, Macroglossia, Everted lower lip vermilion, Protruding tongue |
ORPHA:96147 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
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 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Recurrent skin infections, Anal fissure, Oral mucosal blisters, Carious t... |
ORPHA:79408 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Gingival overgrowth, High palate, Dysphagia, Micro... |
OMIM:619777 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis |
ORPHA:2031 |
Giant Cell Arteritis |
|
Glossitis, Anorexia |
ORPHA:397 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
High, narrow palate, Short philtrum, High palate, Tics, Compulsive behaviors, Abnormal repetitive... |
OMIM:619475 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ... |
OMIM:268310 |
Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Pyloric stenosis, Gingival overgrowth, Anteriorly placed anus, Glo... |
OMIM:602535 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Dental crowding, Per... |
OMIM:180700 |
Autosomal Dominant Robinow Syndrome |
|
Median cleft lip and palate, Open bite, High, narrow palate, Abnormality of the gingiva, Supernum... |
ORPHA:3107 |
6Q Terminal Deletion Syndrome |
|
Broad philtrum, Hyperkeratosis, Thick vermilion border, High, narrow palate |
ORPHA:75857 |
Opitz Gbbb Syndrome |
|
Natal tooth, Cleft lip, Tracheoesophageal fistula, Cleft palate, Dysphagia, Ectopic anus, High pa... |
ORPHA:2745 |
Xeroderma Pigmentosum |
|
Hyperkeratosis, Thickened skin, Abnormality of the dentition |
ORPHA:910 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Palpebral edema, Protruding tongue, Deep philtrum, Gingival overgrowth, Nar... |
ORPHA:99843 |
Otopalatodigital Syndrome Type 2 |
|
Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia, Narrow mouth, Anodontia |
ORPHA:90652 |
Chand Syndrome |
|
Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesis of maxilla... |
ORPHA:1401 |
Leprechaunism |
|
Thickened skin, Rectal prolapse, Megarectum, Hyperkeratosis, Thick vermilion border, Acanthosis n... |
ORPHA:508 |
Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, High palate, Short philtrum, Protruding tongue |
OMIM:300963 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Abnormality of the dentition, High, narrow palate, Supernumerary tooth, Abnormality ... |
ORPHA:2108 |
Tarp Syndrome |
|
Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptosis, Abnormal duodenum m... |
ORPHA:2886 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Hydrops fetalis, Cleft palate, Mic... |
OMIM:263520 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Polyhydramnios, Protruding tongue, Hydrops fetalis, Long philtrum |
ORPHA:50945 |
Pelvis-Shoulder Dysplasia |
|
Thick anterior alveolar ridges, Microglossia, Cleft palate |
ORPHA:2839 |
Cerebrocostomandibular Syndrome |
|
Glossoptosis, Short hard palate, Cleft palate, Death in infancy |
ORPHA:1393 |
Pallister-Hall Syndrome |
|
Natal tooth, Cleft upper lip, Cleft palate, Anteriorly placed anus, Neonatal death, Microglossia,... |
OMIM:146510 |
Frontorhiny |
|
Bifid tongue, Cleft palate |
ORPHA:391474 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Hyperkeratosis, Stillbirth, Short philtrum, Death in childhood, Oligohydramnios |
OMIM:210710 |
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 |
1Q21.1 Microdeletion Syndrome |
|
Ankyloglossia, High palate, Attention deficit hyperactivity disorder, Long philtrum |
ORPHA:250989 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Difficulty in tongue movements, Tongue atrophy |
ORPHA:99956 |
Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
Fontaine Progeroid Syndrome |
|
Thin upper lip vermilion, Death in infancy, Protruding tongue, High, narrow palate, Anteriorly pl... |
OMIM:612289 |
Meckel Syndrome, Type 1 |
|
Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, Cleft palate, Wid... |
OMIM:249000 |
Yunis-Varon Syndrome |
|
Polyhydramnios, Premature loss of primary teeth, Abnormality of dental structure, High, narrow pa... |
ORPHA:3472 |
Spondyloepiphyseal Dysplasia Congenita |
|
Glossoptosis, Cleft palate |
ORPHA:94068 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Polyhydramnios, Aggressive behavior, Agenesis of incisor, Wide mouth, S... |
OMIM:619841 |
Restrictive Dermopathy |
|
Natal tooth, Polyhydramnios, Epidermal hyperkeratosis, Submucous cleft hard palate, Narrow mouth,... |
ORPHA:1662 |
Kawasaki Disease |
|
Glossitis, Skin rash, Cheilitis, Edema |
ORPHA:2331 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Downturned corners of mouth, Glossoptosis, Macroglossia, High palate, L... |
ORPHA:444077 |
Charcot-Marie-Tooth Disease Type 4C |
|
Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations |
ORPHA:99949 |
Plague |
|
Chapped lip, Skin rash, Edema, Anorexia, Erythema nodosum, Enterocolitis, Inflammation of the lar... |
ORPHA:707 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Hyperactivity, Aganglionic megacolon, Dental crowding, Eczema, Intestinal malro... |
OMIM:270400 |
Meckel Syndrome |
|
Furrowed tongue, Aplasia/Hypoplasia of the tongue, Cleft palate, Oligohydramnios |
ORPHA:564 |
Catel-Manzke Syndrome |
|
Cleft upper lip, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Narrow mouth, Bi... |
OMIM:616145 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Abnormality of the dentition, Cleft palate, Short philtrum, Attention d... |
ORPHA:1596 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Aganglionic megacolon, Abnormal dental enamel morphology, Eczema, Cheilitis, Hyperkeratosis, Icht... |
ORPHA:2273 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Dental crowding, Follicular hyperkeratosis |
OMIM:225400 |
Choreoacanthocytosis |
|
Self-mutilation of tongue and lips due to involuntary movements, Hyperactivity, Protruding tongue... |
ORPHA:2388 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Hyperactivity, Tented upper lip vermilion, Hypoplastic philtrum, Protru... |
OMIM:309580 |
Degcags Syndrome |
|
Jejunal atresia, Polyhydramnios, Protruding tongue, Hiatus hernia, Pyloric stenosis, Oral-pharyng... |
OMIM:619488 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue atrophy, Atopic dermatitis |
ORPHA:466768 |
Stickler Syndrome |
|
Abnormal dental enamel morphology, Cleft upper lip, Open bite, Cleft palate, Glossoptosis, Macrog... |
ORPHA:828 |
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 |
Cousin Syndrome |
|
Microglossia, Alveolar ridge overgrowth, Cleft palate |
OMIM:260660 |
Orofaciodigital Syndrome Type 14 |
|
Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle... |
ORPHA:434179 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... |
ORPHA:2729 |
Orofaciodigital Syndrome Xiv |
|
Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasia of the epiglottis, Clef... |
OMIM:615948 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
High palate, Follicular hyperkeratosis |
ORPHA:536545 |
Viss Syndrome |
|
Chronic gastritis, Duodenitis, Eczema, Polyhydramnios, Intestinal malrotation, Cleft soft palate,... |
OMIM:619472 |
Fraser Syndrome |
|
Death in infancy, Anal stenosis, Dental crowding, Cleft upper lip, Dental malocclusion, Orofacial... |
ORPHA:2052 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Abnormal tongue morphology, Thick vermilion border, Ganglioneuromatosis |
ORPHA:653 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Downturned corners of mouth, Ankyloglossia, Cleft palate |
ORPHA:488642 |
Atypical Werner Syndrome |
|
Hyperkeratosis, Thin vermilion border, Neoplasm of the oral cavity |
ORPHA:79474 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormality of the dentition, Cleft palate, Anteriorly placed anus, Microglossia, Enamel hypoplasia |
OMIM:151050 |
Bilateral Perisylvian Polymicrogyria |
|
Pseudobulbar paralysis, Dysphagia, Protruding tongue |
ORPHA:98889 |
Stüve-Wiedemann Syndrome |
|
Abnormality of the dentition, Smooth tongue, Oligohydramnios |
ORPHA:3206 |
Leprosy |
|
Hyperkeratosis |
ORPHA:548 |
Proteus Syndrome |
|
Abnormal dental enamel morphology, Lymphedema, Carious teeth, Thickened skin, Tooth agenesis, Gen... |
ORPHA:744 |
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 |
Neuroocular Syndrome |
|
Short uvula, Submucous cleft hard palate, Downturned corners of mouth, Widely spaced teeth, Torus... |
OMIM:619539 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia |
OMIM:190685 |
Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Short lingual frenulum, Dental crowding, Persistence of primary teeth,... |
ORPHA:740 |
Pallister-Hall Syndrome |
|
Natal tooth, Accessory oral frenulum, Cleft lip, Paroxysmal bursts of laughter, Cleft palate, Mic... |
ORPHA:672 |
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 |
Microphthalmia, Syndromic 6 |
|
Microglossia, High palate, Bifid uvula, Cleft palate |
OMIM:607932 |