| Keratosis, Focal Palmoplantar And Gingival |
|
Circumungual hyperkeratosis, Focal friction-related palmoplantar hyperkeratosis, Gingival hyperke... |
OMIM:148730 |
| Ichthyosis, Lamellar, Autosomal Dominant |
|
Pruritus, Congenital nonbullous ichthyosiform erythroderma, Hyperkeratosis |
OMIM:146750 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Pruritus, Superficial dermal perivascular inflammatory infiltrate, Parakeratosis |
OMIM:618531 |
| White Sponge Nevus 2 |
|
Edema, Hyperparakeratosis |
OMIM:615785 |
| Tylosis With Esophageal Cancer |
|
Esophageal carcinoma, Diffuse palmoplantar hyperkeratosis, Abnormality of the mouth, Parakeratosis |
OMIM:148500 |
| Palmoplantar Keratoderma, Norrbotten Recessive Type |
|
Recurrent cutaneous fungal infections, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:244850 |
| Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma |
|
Linear arrays of macular hyperkeratoses in flexural areas, Parakeratosis, Congenital nonbullous i... |
OMIM:601952 |
| Porokeratosis Plantaris Palmaris Et Disseminata |
|
Hyperkeratotic papule, Pruritus, Palmoplantar hyperkeratosis, Porokeratosis |
ORPHA:737 |
| Porokeratosis Of Mibelli |
|
Pruritus, Porokeratosis, Hyperkeratosis |
ORPHA:735 |
| Bazex Syndrome |
|
Lip hyperpigmentation, Acanthosis nigricans, Pruritus, Edema, Palmoplantar keratoderma, Parakerat... |
ORPHA:166113 |
| Ichthyosis, Congenital, Autosomal Recessive 13 |
|
Hypergranulosis, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617574 |
| Porokeratosis 7, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:614714 |
| Peeling Skin Syndrome 6 |
|
Pruritus, Orthokeratosis, Parakeratosis |
OMIM:618084 |
| Vohwinkel Syndrome, Variant Form |
|
Hyperkeratosis, Orthokeratosis, Hypergranulosis, Parakeratosis |
OMIM:604117 |
| 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 |
|
Diffuse palmoplantar hyperkeratosis, Hyperkeratosis with erythema |
ORPHA:86923 |
| Palmoplantar Keratoderma, Nonepidermolytic, Focal 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:616400 |
| Palmoplantar Keratoderma, Punctate Type Iii |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101850 |
| Erythrokeratodermia Variabilis Et Progressiva 5 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617756 |
| Olmsted Syndrome 2 |
|
Cheilitis, Pruritus, Palmoplantar keratoderma, Parakeratosis, Perioral hyperkeratosis, Hyperkerat... |
OMIM:619208 |
| Sjogren-Larsson-Like Ichthyosis Without Cns Or Eye Involvement |
|
Congenital ichthyosiform erythroderma, Hyperkeratosis |
OMIM:270220 |
| Dermatoleukodystrophy |
|
Thickened skin, Hyperkeratosis |
ORPHA:1659 |
| Cole Disease |
|
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615522 |
| Pityriasis Rubra Pilaris |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hypergranulosis, Orthokeratosis |
OMIM:173200 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Pruritus, Palmoplantar keratoderma, Parakeratosis, Gingival recession, Ichthyosis, Hyperkeratosis... |
OMIM:615821 |
| Vulvovaginal Gingival Syndrome |
|
Oral ulcer, Pruritus, Gingivitis, Parakeratosis |
ORPHA:83453 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Hypergranulosis, Congenital nonb... |
ORPHA:79395 |
| Olmsted Syndrome, X-Linked |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Parakeratosis, Hyperkeratosis, Palmoplantar h... |
OMIM:300918 |
| Porokeratosis 3, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175900 |
| Epidermolysis Bullosa Simplex 1C, Localized |
|
Hyperkeratosis |
OMIM:131800 |
| Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
| Porokeratosis 1, Multiple Types |
|
Porokeratosis, Parakeratosis |
OMIM:175800 |
| Ichthyosis, Congenital, Autosomal Recessive 5 |
|
Erythroderma, Palmoplantar keratoderma, Parakeratosis, Congenital nonbullous ichthyosiform erythr... |
OMIM:604777 |
| Palmoplantar Keratoderma-Deafness Syndrome |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:2202 |
| Psoriasis 2 |
|
Hyperkeratosis, Psoriasiform dermatitis, Parakeratosis |
OMIM:602723 |
| Acrokeratosis Verruciformis |
|
Acrokeratosis, Hyperkeratosis |
OMIM:101900 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Eczematoid dermatitis, Pruritis on breast, Pruritis on hand, Pruritis on abdomen, Pruritus, Parak... |
ORPHA:64745 |
| Mental Retardation, Fra12A Type |
|
Hyperkeratosis |
OMIM:136630 |
| Diarrhea 2, With Microvillus Atrophy |
|
Abnormal intestine morphology, Death in infancy, Dehydration, Villous atrophy |
OMIM:251850 |
| Bathing Suit Ichthyosis |
|
Erythroderma, Eclabion, Thickened skin, Parakeratosis, Congenital nonbullous ichthyosiform erythr... |
ORPHA:100976 |
| Dowling-Degos Disease 2 |
|
Hyperkeratotic papule, Follicular hyperkeratosis |
OMIM:615327 |
| Ichthyosis, Congenital, Autosomal Recessive 6 |
|
Erythroderma, Palmoplantar keratoderma, Generalized ichthyosis, Parakeratosis, Congenital nonbull... |
OMIM:612281 |
| Colonic Varices Without Portal Hypertension |
|
Intestinal bleeding, Colonic varices |
OMIM:120440 |
| Hyperkeratosis Lenticularis Perstans |
|
Hyperkeratosis lenticularis perstans |
OMIM:144150 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Erythroderma, Parakeratosis, Everted lower lip vermilion, Palmoplantar hyperkeratosis, Congenital... |
OMIM:242300 |
| Angioma Serpiginosum, Autosomal Dominant |
|
Hyperkeratosis |
OMIM:106050 |
| Reticulate Acropigmentation Of Kitamura |
|
Hyperkeratosis |
OMIM:615537 |
| Papillomatosis, Confluent And Reticulated |
|
Hyperkeratosis |
OMIM:167900 |
| Olmsted Syndrome 1 |
|
Pruritus, Palmoplantar keratoderma, Subungual hyperkeratosis, Parakeratosis |
OMIM:614594 |
| Ichthyosis Hystrix Of Curth-Macklin |
|
Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, Ichthyosis, Hyperkeratosis |
ORPHA:79503 |
| Hypotrichosis Simplex Of The Scalp |
|
Hyperkeratosis, Pruritus, Atopic dermatitis, Parakeratosis |
ORPHA:90368 |
| Netherton Syndrome |
|
Abnormal intestine morphology, Erythroderma, Villous atrophy, Angioedema, Hypernatremic dehydrati... |
OMIM:256500 |
| Palmoplantar Keratoderma, Nagashima Type |
|
Hypergranulosis, Orthokeratotic hyperkeratosis |
OMIM:615598 |
| Aquagenic Palmoplantar Keratoderma |
|
Atopic dermatitis, Orthokeratotic hyperkeratosis, Edema, Palmoplantar keratoderma, Palmar pruritus |
ORPHA:498359 |
| Chronic Hiccup |
|
Dehydration, Abnormal eating behavior |
ORPHA:396 |
| Congenital Panfollicular Nevus |
|
Hyperkeratosis |
ORPHA:139414 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue, Facial edema |
OMIM:155900 |
| Psoriasis 14, Pustular |
|
Geographic tongue, Psoriasiform dermatitis, Pustule, Furrowed tongue, Parakeratosis |
OMIM:614204 |
| Epidermolysis Bullosa Simplex 4, Localized Or Generalized Intermediate, Autosomal Recessive |
|
Hyperkeratosis |
OMIM:615028 |
| Familial Reactive Perforating Collagenosis |
|
Hyperkeratotic papule, Inflammatory abnormality of the skin, Pruritus, Perifolliculitis, Abnormal... |
ORPHA:79147 |
| Peeling Skin Syndrome 5 |
|
Hyperkeratosis |
OMIM:617115 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Pruritus, Hyperkeratosis |
OMIM:131850 |
| Harlequin Ichthyosis |
|
Erythroderma, Eclabion, Ichthyosis, Hyperkeratosis, Dehydration, Congenital ichthyosiform erythro... |
ORPHA:457 |
| Blood Group, Cromer System |
|
Protein-losing enteropathy |
OMIM:613793 |
| Lactase Deficiency, Congenital |
|
Lactose intolerance, Dehydration, Decreased small intestinal mucosa lactase level |
OMIM:223000 |
| Hyperkeratosis-Hyperpigmentation Syndrome |
|
Hyperkeratosis |
ORPHA:1336 |
| Anonychia With Flexural Pigmentation |
|
Carious teeth, Follicular hyperkeratosis, Hyperkeratosis |
ORPHA:69125 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Pruritus, Palmar hyperkeratosis, Hyperkeratosis, Abnormality of the dentition, Plantar hyperkerat... |
ORPHA:79399 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Pruritus, Parakeratosis |
ORPHA:158681 |
| Insulin-Resistance Syndrome Type A |
|
Hyperkeratosis |
ORPHA:2297 |
| Erythrokeratoderma ''En Cocardes'' |
|
Hyperkeratosis |
ORPHA:315 |
| Lamellar Ichthyosis |
|
Erythroderma, Pruritus, Ichthyosis, Everted lower lip vermilion, Hyperkeratosis, Abnormality of t... |
ORPHA:313 |
| Palmoplantar Carcinoma, Multiple Self-Healing |
|
Follicular hyperkeratosis, Palmoplantar keratoderma, Long philtrum, Parakeratosis |
OMIM:615225 |
| Erythrokeratodermia Variabilis Et Progressiva 3 |
|
Hypergranulosis, Palmoplantar keratoderma, Hyperkeratosis |
OMIM:617525 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Hypodontia, Oligodontia, Parakeratosis, Enamel hypoplasia, Orthokeratosis, Ichthyosis |
OMIM:607626 |
| Geographic And Fissured Tongue |
|
Geographic tongue, Furrowed tongue |
OMIM:137400 |
| Chromomycosis |
|
Hyperkeratotic papule, Lymphedema, Abnormal oral cavity morphology, Pruritus, Edema, Hyperparaker... |
ORPHA:182 |
| Lipoid Proteinosis |
|
Thick lower lip vermilion, Dysphagia, High palate, Pustule, Tongue nodules, Thickened skin, Micro... |
ORPHA:530 |
| Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Circumungual hyperkeratosis, Palmoplantar keratoderma, Gingival overgro... |
ORPHA:2200 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Predominantly dermal neutrophilic infiltrate, Pustule, Superficial dermal perivascular inflammato... |
ORPHA:284426 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Perifollicular hyperkeratosis, Pruritus |
ORPHA:505 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Orthokeratotic hyperkeratosis, Pruritus, Hyperkeratosis |
OMIM:617571 |
| Pachyonychia Congenita 4 |
|
Palmoplantar keratoderma, Hyperkeratosis |
OMIM:615728 |
| Alpha-Methylacetoacetic Aciduria |
|
Dehydration |
OMIM:203750 |
| Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease |
|
Chronic furunculosis, Recurrent cutaneous abscess formation, Perifolliculitis, Acne inversa, Foll... |
OMIM:613736 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Hypodontia, Dysphagia, Enamel hypoplasia, Hyperkeratosis |
OMIM:616029 |
| Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Pruritus, Palmoplantar hyperkeratosis, Oral mucosal blisters, Hyperkeratosis |
ORPHA:89838 |
| Parana Hard Skin Syndrome |
|
Thickened skin, Hyperkeratosis |
ORPHA:2812 |
| Gilbert Syndrome |
|
Dehydration |
OMIM:143500 |
| Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Hyperkeratosis |
OMIM:618339 |
| Erythrokeratodermia Variabilis Et Progressiva 4 |
|
Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:617526 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Dehydration |
OMIM:610370 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Edema, Dehydration, Pustule |
OMIM:616069 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
| Acquired Ichthyosis |
|
Pruritus, Palmoplantar keratoderma, Recurrent skin infections, Ichthyosis, Hyperkeratosis |
ORPHA:454 |
| Lymphatic Malformation 4 |
|
Lymphedema, Hyperkeratosis |
OMIM:615907 |
| Pityriasis Rubra Pilaris |
|
Abnormal oral cavity morphology, Eczema, Erythroderma, Pustule, Subungual hyperkeratosis, Pruritu... |
ORPHA:2897 |
| Erythrokeratodermia Variabilis Et Progressiva 1 |
|
Generalized hyperkeratosis, Patchy palmoplantar hyperkeratosis, Erythroderma, Hypergranulosis |
OMIM:133200 |
| Pierre Robin Syndrome |
|
Cleft palate, Pierre-Robin sequence, Glossoptosis |
OMIM:261800 |
| Combined Malonic And Methylmalonic Aciduria |
|
Dehydration |
OMIM:614265 |
| Neonatal Lupus Erythematosus |
|
Parakeratosis, Malar rash, Skin rash, Maculopapular exanthema, Hyperkeratosis |
ORPHA:398124 |
| Ichthyosis With Confetti |
|
Erythroderma, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:609165 |
| Epidermolytic Palmoplantar Keratoderma |
|
Epidermal hyperkeratosis, Hypergranulosis, Palmoplantar hyperkeratosis, Palmar hyperkeratosis, Di... |
ORPHA:2199 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Erythroderma, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Congenital bullous ichthyosif... |
ORPHA:312 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia, Dehydration, Long philtrum |
OMIM:618958 |
| Ichthyosis, Congenital, Autosomal Recessive 8 |
|
Hypergranulosis, Orthokeratosis, Ichthyosis, Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:613943 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Follicular hyperkeratosis, Ichthyosis, Congenital nonbullous ichthyosiform erythroderma |
OMIM:618546 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Cleft palate, Pierre-Robin sequence, Glossoptosis |
OMIM:311895 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
| Isolated Pierre Robin Syndrome |
|
Cleft palate, Glossoptosis |
ORPHA:718 |
| Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Dehydration |
ORPHA:99886 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Dehydration |
OMIM:143860 |
| Familial Cold Urticaria |
|
Pruritus, Dehydration, Polydipsia |
ORPHA:47045 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:79159 |
| Ichthyosis, Congenital, Autosomal Recessive 3 |
|
Congenital nonbullous ichthyosiform erythroderma, Palmoplantar keratoderma, Eclabion, Hyperkeratosis |
OMIM:606545 |
| Solar Urticaria |
|
Abnormal lip morphology, Angioedema, Pruritus, Edema, Abnormal tongue morphology, Periorbital edema |
ORPHA:97230 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Palmoplantar keratoderma, Follicular hyperkeratosis, Enamel hypoplasia, Thin upper lip vermilion,... |
OMIM:613576 |
| Angioma Serpiginosum, X-Linked |
|
Hyperkeratosis |
OMIM:300652 |
| Chilblain Lupus |
|
Inflammatory abnormality of the skin, Pruritis on hand, Discoid lupus rash, Malar rash, Skin rash... |
ORPHA:90280 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Cleft palate, Glossoptosis |
ORPHA:3104 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Sclerodactyly, Palmoplantar hyperkeratosis, Hyperkeratosis |
OMIM:212360 |
| Pachyonychia Congenita 1 |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis, Oral leukoplakia |
OMIM:167200 |
| Chronic Intestinal Pseudoobstruction |
|
Pyloric stenosis, Abnormal intestine morphology, Intestinal malrotation |
ORPHA:2978 |
| Netherton Syndrome |
|
Eczema, Acanthosis nigricans, Erythroderma, Malabsorption, Congenital nonbullous ichthyosiform er... |
ORPHA:634 |
| Reticular Dysgenesis |
|
Malabsorption, Dehydration, Skin rash |
ORPHA:33355 |
| Singleton-Merten Syndrome 2 |
|
Hyperkeratosis |
OMIM:616298 |
| Lichen Planus Pemphigoides |
|
Abnormal oral mucosa morphology, Pruritus, Hyperkeratosis |
ORPHA:254478 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Short philtrum, Acne inversa, Orthokeratosis, Hyperkeratosis, Natal tooth |
OMIM:617337 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Cleft upper lip, Stillbirth, Parakeratosis, Hyperkeratosis, Congenital ichthyosiform erythroderma |
OMIM:308050 |
| Atrophoderma Vermiculata |
|
Hyperkeratotic papule, Pruritus, Follicular hyperkeratosis |
ORPHA:79100 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Palmoplantar keratoderma, Furrowed tongue, Gingivitis, Palmar hyperkeratosis, Hyperk... |
OMIM:615726 |
| Classic Mycosis Fungoides |
|
Eczema, Pruritus, Edema, Skin rash, Hyperkeratosis |
ORPHA:2584 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Enteric Anendocrinosis |
|
Dehydration, Malabsorption |
ORPHA:83620 |
| Keratoderma Hereditarium Mutilans |
|
Cleft palate, Ichthyosis, Honeycomb palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:494 |
| Central Diabetes Insipidus |
|
Dehydration, Polydipsia |
ORPHA:178029 |
| Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
| Gastric Volvulus, Intrathoracic |
|
Volvulus, Hiatus hernia |
OMIM:137210 |
| Seborrhea-Like Dermatitis With Psoriasiform Elements |
|
Seborrheic dermatitis, Hyperkeratosis |
OMIM:610227 |
| Ichthyosis Prematurity Syndrome |
|
Erythroderma, Pruritus, Polyhydramnios, Follicular hyperkeratosis, Generalized ichthyosis |
OMIM:608649 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Edema, Dehydration |
ORPHA:103910 |
| Hyperkeratosis Lenticularis Perstans |
|
Pruritus, Hyperkeratosis lenticularis perstans |
ORPHA:409 |
| Palmoplantar Keratoderma, Punctate Type Ia |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Orthokeratosis |
OMIM:148600 |
| Palmoplantar Keratoderma I, Striate, Focal, Or Diffuse |
|
Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Streaks of hyperkeratosis along each fin... |
OMIM:148700 |
| Ichthyosis, Hystrix-Like, With Deafness |
|
Palmoplantar keratoderma, Erythroderma, Ichthyosis, Hyperkeratosis |
OMIM:602540 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
| Peeling Skin Syndrome 4 |
|
Orthokeratosis, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis |
OMIM:607936 |
| Ramon Syndrome |
|
Abnormal dental enamel morphology, Delayed eruption of teeth, Narrow palate, Hyperkeratosis, Ging... |
ORPHA:3019 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Abnormal dental enamel morphology, Advanced eruption of teeth, Delayed eruption of teeth, Abnorma... |
ORPHA:1028 |
| Combined Malonic And Methylmalonic Acidemia |
|
Dehydration |
ORPHA:289504 |
| Meige Disease |
|
Predominantly lower limb lymphedema, Edema of the dorsum of hands, Facial edema, Recurrent bacter... |
ORPHA:90186 |
| Recessive X-Linked Ichthyosis |
|
Ichthyosis, Hyperkeratosis |
ORPHA:461 |
| Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Polyphagia, Volvulus,... |
ORPHA:95427 |
| Burning Mouth Syndrome |
|
Strawberry tongue, Parageusia, Tongue pain, Xerostomia, Abnormality of the gingiva, Burning mouth... |
ORPHA:353253 |
| Mednik Syndrome |
|
Abnormal intestine morphology, Ichthyosis, Hyperkeratosis |
ORPHA:171851 |
| Autosomal Agammaglobulinemia |
|
High palate, Malabsorption, Recurrent skin infections, Skin rash, Dehydration |
ORPHA:33110 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Palmoplantar keratoderma, Hypergranulosis, Congenital nonbullous ichthyosiform erythroderma, Ever... |
OMIM:242100 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Death in infancy, Dehydration, Ichthyosis |
OMIM:208085 |
| Moynahan Syndrome |
|
Hyperkeratosis |
ORPHA:2574 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Conical tooth, Hyperkeratosis |
OMIM:618625 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Pruritus, Hyperkeratosis |
ORPHA:89843 |
| Hypercalcemia, Infantile, 1 |
|
Thick lower lip vermilion, Dehydration |
OMIM:143880 |
| Porokeratosis |
|
Pruritus, Hyperkeratosis |
ORPHA:79358 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Death in infancy, Glossoptosis |
OMIM:614876 |
| Flynn-Aird Syndrome |
|
Carious teeth, Hyperkeratosis |
OMIM:136300 |
| Neuropathy, Hereditary Sensory, Type If |
|
Hyperkeratosis |
OMIM:615632 |
| Lichen Planopilaris |
|
Pruritus, Abnormal intestine morphology, Neoplasm of the oral cavity, Hyperkeratosis |
ORPHA:525 |
| Hypertrichosis-Acromegaloid Facial Appearance Syndrome |
|
Gingival overgrowth, Furrowed tongue, Palpebral edema, Thick vermilion border, Everted lower lip ... |
ORPHA:966 |
| Hypotrichosis 6 |
|
Pruritus, Follicular hyperkeratosis |
OMIM:607903 |
| Irida Syndrome |
|
Abnormal intestine morphology, Ichthyosis, Hyperkeratosis |
ORPHA:209981 |
| Milroy Disease |
|
Lymphedema, Hyperkeratosis, Pedal edema, Erysipelas, Predominantly lower limb lymphedema |
ORPHA:79452 |
| Acrokeratosis Verruciformis Of Hopf |
|
Hypergranulosis, Punctate palmoplantar hyperkeratosis, Hyperkeratosis |
ORPHA:79151 |
| Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Follicular hyperkeratosis, Acne, Contact dermatitis |
ORPHA:3406 |
| Microvillus Inclusion Disease |
|
Pruritus, Dehydration, Abnormality of small intestinal villus morphology, Villous atrophy |
ORPHA:2290 |
| Glucose/Galactose Malabsorption |
|
Hypertonic dehydration, Malabsorption |
OMIM:606824 |
| Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Abnormal intestine morphology, Esophagitis, Duodenitis, Gastritis, Pancolitis, Protein-losing ent... |
OMIM:619079 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Palmoplantar keratoderma, Angular cheilitis, Hyperkeratosis |
OMIM:616295 |
| Auriculocondylar Syndrome 2 |
|
Mandibular condyle aplasia, Cleft palate, Glossoptosis, Short mandibular rami, Narrow mouth, Dent... |
OMIM:614669 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Dysphagia, Tongue atrophy |
ORPHA:496689 |
| Acrokeratoelastoidosis Of Costa |
|
Hyperkeratotic papule, Orthokeratosis, Palmoplantar hyperkeratosis, Hypergranulosis |
ORPHA:38 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Oligohydramnios, Dehydration, Esophageal varix |
OMIM:263200 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Dehydration |
OMIM:251120 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Dehydration |
OMIM:602722 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Psoriasiform dermatitis, Erythroderma, Acantholysis, Palmoplantar keratoderma, Hypergranulosis, O... |
OMIM:615508 |
| Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Follicular hyperkeratosis, High palate |
OMIM:617066 |
| Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Malabsorption, Anal atresia, Abnormal small intestinal mucosa morphology, Abnorm... |
ORPHA:92050 |
| Visceral Myopathy 2 |
|
Dysphagia, Rectal prolapse, Megaduodenum, Intestinal pseudo-obstruction, Volvulus, Esophagitis, I... |
OMIM:619350 |
| Superficial Epidermolytic Ichthyosis |
|
Edema, Palmoplantar keratoderma, Acantholysis, Ichthyosis |
ORPHA:455 |
| Proteus Syndrome |
|
Open mouth, Hyperkeratosis |
OMIM:176920 |
| Hereditary Mucoepithelial Dysplasia |
|
Gingival overgrowth, Furrowed tongue, Tracheoesophageal fistula, Hyperkeratosis |
ORPHA:1839 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
| Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Skin rash, Hyperkeratosis |
ORPHA:317 |
| Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Ichthyosis, Hyperkeratosis |
ORPHA:816 |
| Cystinosis |
|
Dehydration, Malabsorption, Polydipsia |
ORPHA:213 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration |
ORPHA:79312 |
| Catel-Manzke Syndrome |
|
Cleft palate, Oral synechia, Glossoptosis |
ORPHA:1388 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Cleft palate, Microglossia |
ORPHA:141152 |
| Hartnup Disorder |
|
Glossitis |
OMIM:234500 |
| Pilodental Dysplasia With Refractive Errors |
|
Conical incisor, Follicular hyperkeratosis, Hypodontia |
OMIM:262020 |
| Melkersson-Rosenthal Syndrome |
|
Inflammatory abnormality of the skin, Macroglossia, Cheilitis, Edema, Furrowed tongue, Periorbita... |
ORPHA:2483 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Pyloric stenosis, Eczema, Cleft palate, Superficial dermal perivascular inflammatory infiltrate, ... |
ORPHA:83617 |
| Plummer-Vinson Syndrome |
|
Dysphagia, Geophagia, Cheilitis, Esophageal web, Narrow mouth, Glossitis, Tongue atrophy, Intra-o... |
ORPHA:54028 |
| Acquired Hypertrichosis Lanuginosa |
|
Acanthosis nigricans, Macroglossia, Thickened skin, Glossitis, Ichthyosis |
ORPHA:2221 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Seborrheic dermatitis, Hyperparakeratosis |
ORPHA:276280 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
| Auriculocondylar Syndrome 3 |
|
Bifid uvula, Glossoptosis |
OMIM:615706 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Dehydration |
OMIM:203400 |
| Gaucher Disease, Perinatal Lethal |
|
Dysphagia, Nonimmune hydrops fetalis, Everted upper lip vermilion, Ascites, Neonatal death, Polyh... |
OMIM:608013 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Lymphedema, Hyperkeratosis |
ORPHA:79279 |
| Congenital Disorder Of Glycosylation, Type Iq |
|
Eczema, Ichthyosis, Hyperkeratosis |
OMIM:612379 |
| Pseudohypoaldosteronism, Type I, Autosomal Recessive |
|
Dehydration |
OMIM:264350 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Atopic dermatitis, Dehydration, Pustule |
ORPHA:171876 |
| Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome |
|
Hyperkeratotic papule, Palmoplantar keratoderma, Palmoplantar hyperkeratosis |
ORPHA:2698 |
| Monilethrix |
|
Abnormality of the dentition, Follicular hyperkeratosis |
ORPHA:573 |
| Darier-White Disease |
|
Acantholysis, Pruritus, Subungual hyperkeratotic fragments, Acrokeratosis, Enlargement of parotid... |
OMIM:124200 |
| Juvenile Idiopathic Arthritis |
|
Psoriasiform dermatitis, Pericardial effusion, Thickened skin, Malabsorption, Skin rash, Generali... |
ORPHA:92 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
| Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hyperkeratosis |
OMIM:145250 |
| Lelis Syndrome |
|
Carious teeth, Hypodontia, Acanthosis nigricans, Furrowed tongue, Abnormality of the mouth, Palmo... |
ORPHA:140936 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Ichthyosis, Abnormal stomach morphology, Hyperkeratosis |
ORPHA:281090 |
| Dowling-Degos Disease |
|
Hyperkeratotic papule, Pruritus, Acne inversa, Anal margin squamous cell carcinoma, Hyperkeratosis |
ORPHA:79145 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Dehydration |
OMIM:177735 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Smooth philtrum, Protruding tongue, Open mouth |
OMIM:618732 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Epidermal hyperkeratosis, Palmoplantar keratoderma, Plantar hyperkeratosis |
OMIM:104100 |
| Familial Benign Chronic Pemphigus |
|
Acantholysis, Hyperkeratosis |
ORPHA:2841 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Dehydration |
OMIM:560000 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Wide mouth, Short philtrum, Hyperkeratosis |
ORPHA:163966 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Generalized hyperkeratosis, Eclabion, Generalized ichthyosis |
ORPHA:2269 |
| Propionic Acidemia |
|
Eczema, Dehydration |
OMIM:606054 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Dehydration |
OMIM:251000 |
| Hemifacial Atrophy, Progressive |
|
Short mandibular rami, Tongue atrophy, Delayed eruption of teeth, Dental malocclusion |
OMIM:141300 |
| Dend Syndrome |
|
Downturned corners of mouth, Dehydration, Long philtrum |
ORPHA:79134 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Dysphagia, Tongue atrophy |
ORPHA:216873 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypertonic dehydration, Polydipsia |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypertonic dehydration, Polydipsia |
OMIM:304800 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Follicular hyperkeratosis |
ORPHA:300179 |
| Early-Onset Familial Hypoaldosteronism |
|
Dehydration |
ORPHA:556030 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Dysphagia, Tongue atrophy |
OMIM:158900 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Carious teeth, Hyperkeratosis |
ORPHA:1883 |
| Costello Syndrome |
|
Thick lower lip vermilion, Acanthosis nigricans, Macroglossia, Abnormal dental enamel morphology,... |
ORPHA:3071 |
| Hidrotic Ectodermal Dysplasia |
|
Hyperkeratotic papule, Thickened skin, Palmoplantar keratoderma, Cobblestone-like hyperkeratosis,... |
ORPHA:189 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Cleft palate, Glossoptosis, Long philtrum |
ORPHA:166100 |
| Beta-Ketothiolase Deficiency |
|
Edema, Dehydration, Oral aversion |
ORPHA:134 |
| Noonan Syndrome 8 |
|
Eczema, Pleural effusion, Polyhydramnios, Hyperkeratosis |
OMIM:615355 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Cleft palate, Bifid uvula, Lobulated tongue, Median cleft lip |
OMIM:174300 |
| Renal Hypoplasia |
|
Dehydration, Polydipsia |
ORPHA:93101 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Congenital ichthyosiform erythroderma, Hyperkeratosis |
OMIM:602400 |
| Auriculocondylar Syndrome 1 |
|
Mandibular condyle aplasia, Cleft palate, Impaired mastication, Glossoptosis, Anterior open-bite ... |
OMIM:602483 |
| Chronic Mucocutaneous Candidiasis |
|
Abnormal lip morphology, Cheilitis, Pruritus, Abnormal dental enamel morphology, Abnormality of t... |
ORPHA:1334 |
| Whistling Face Syndrome, Recessive Form |
|
High palate, Long philtrum, Microglossia, Whistling appearance, Narrow mouth |
OMIM:277720 |
| Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive |
|
Follicular hyperkeratosis |
OMIM:277350 |
| Odontoonychodermal Dysplasia |
|
Hypodontia, Hypergranulosis, Abnormality of primary teeth, Orthokeratosis, Smooth tongue, Plantar... |
OMIM:257980 |
| Cardiofaciocutaneous Syndrome 3 |
|
Wide mouth, Hyperkeratosis |
OMIM:615279 |
| Pachyonychia Congenita |
|
Linear arrays of macular hyperkeratoses in flexural areas, Palmoplantar keratoderma, Advanced eru... |
ORPHA:2309 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Dehydration, Polyhydramnios |
OMIM:214700 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Carious teeth, Chapped lip, Pruritus, Cheilitis, Palmoplantar keratoderma, Abnormality of dental ... |
ORPHA:158668 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... |
ORPHA:2919 |
| Osteootohepatoenteric Syndrome |
|
Pruritus, Dehydration, Ileoileal intussusception, Villous atrophy |
OMIM:619377 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Hyperkeratosis |
ORPHA:1573 |
| Congenital Disorder Of Glycosylation, Type If |
|
Erythroderma, Hyperkeratosis |
OMIM:609180 |
| Gist-Plus Syndrome |
|
Intussusception, Gastrointestinal stroma tumor, Intestinal polyposis |
OMIM:175510 |
| Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Pustule, Stomatitis, Skin rash, Hyperkeratosis, Joint swelling |
OMIM:612852 |
| Cronkhite-Canada Syndrome |
|
Stomach cancer, Furrowed tongue, Malabsorption, Hypogeusia, Intestinal polyposis, Colon cancer, H... |
ORPHA:2930 |
| Glucose-Galactose Malabsorption |
|
Dehydration |
ORPHA:35710 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Death in infancy, Esophageal varix, Peau d'orange, Enamel hy... |
OMIM:614576 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Thick vermilion border, Lip telangiectasia, Hyperkeratosis, Telangiectasia of the oral mucosa, Ly... |
ORPHA:79280 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, Polyhydra... |
ORPHA:2759 |
| Faciocardiomelic Dysplasia, Lethal |
|
Neonatal death, Microglossia, Narrow mouth |
OMIM:227270 |
| Premature Aging Syndrome, Penttinen Type |
|
Thin vermilion border, Delayed eruption of teeth, Hyperkeratosis |
OMIM:601812 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
High palate, Short philtrum, Tooth malposition, Furrowed tongue, Everted lower lip vermilion |
ORPHA:1387 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Carious teeth, Odontogenic neoplasm, Death in infancy, Abnormal dental enamel morphology, Delayed... |
ORPHA:534 |
| Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
| Mulibrey Nanism |
|
Hypodontia, Ascites, Microglossia, Enamel hypoplasia, Dental malocclusion, Dental crowding, Hydro... |
OMIM:253250 |
| Intussusception |
|
Intussusception |
OMIM:147710 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Furrowed tongue, Recurrent bacterial skin infections, Ichthyosis, Oral leukoplakia, Hyperkeratosis |
OMIM:148210 |
| Alternating Hemiplegia Of Childhood |
|
Dysphagia, Exaggerated cupid's bow, Downturned corners of mouth, Oral-pharyngeal dysphagia, Dehyd... |
ORPHA:2131 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Follicular hyperkeratosis, Palmoplantar keratoderma, Folliculitis |
OMIM:308800 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
High palate, Macroglossia, Gingival overgrowth, Oligohydramnios, Dehydration |
ORPHA:96191 |
| Hypohidrotic Ectodermal Dysplasia |
|
Eczema, Xerostomia, Abnormality of dental morphology, Thick vermilion border, Hyperkeratosis, Abn... |
ORPHA:238468 |
| Ichthyosis, Spastic Quadriplegia, And Mental Retardation |
|
Ichthyosis, Hyperkeratosis |
OMIM:614457 |
| Oligomeganephronia |
|
Dehydration, Polydipsia |
ORPHA:2260 |
| Methylmalonic Aciduria, Cblb Type |
|
Dehydration |
OMIM:251110 |
| Wolcott-Rallison Syndrome |
|
Dehydration, Ascites |
ORPHA:1667 |
| Monilethrix |
|
Perifollicular hyperkeratosis |
OMIM:158000 |
| Pallister-Hall-Like Syndrome |
|
Death in infancy, Cleft palate, Microglossia, Median cleft lip |
OMIM:241800 |
| Methylmalonic Aciduria, Cbla Type |
|
Dehydration |
OMIM:251100 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Smooth philtrum, Stomatitis, Glossitis, Dehydration, Hydrops fetalis |
ORPHA:79282 |
| Facial Abnormalities, Kyphoscoliosis, And Mental Retardation |
|
Macroglossia, Protruding tongue |
OMIM:227250 |
| Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Follicular hyperkeratosis, High palate |
ORPHA:486815 |
| Donohue Syndrome |
|
Thick lower lip vermilion, Acanthosis nigricans, Wide mouth, Gingival overgrowth, Hyperkeratosis |
OMIM:246200 |
| Spinocerebellar Ataxia 34 |
|
Hyperkeratosis |
OMIM:133190 |
| Orofaciodigital Syndrome Vi |
|
High palate, Cleft palate, Cleft upper lip, Tongue nodules, Accessory oral frenulum |
OMIM:277170 |
| Ring Chromosome 22 Syndrome |
|
Edema, Thick vermilion border, Pleural effusion, Protruding tongue, Lymphedema |
ORPHA:1446 |
| Carey-Fineman-Ziter Syndrome |
|
Dysphagia, Cleft palate, Pierre-Robin sequence, Microglossia, Glossoptosis |
OMIM:254940 |
| Leopard Syndrome 3 |
|
Epidermal hyperkeratosis, Hyperkeratosis |
OMIM:613707 |
| Linear Verrucous Nevus Syndrome |
|
Hyperkeratosis |
ORPHA:2611 |
| Orofaciodigital Syndrome Xv |
|
Lobulated tongue |
OMIM:617127 |
| Auriculocondylar Syndrome |
|
Mandibular condyle aplasia, Cleft palate, Dental crowding, Hamartoma of tongue, Microglossia, Bif... |
ORPHA:137888 |
| Familial Keratoacanthoma |
|
Hyperkeratosis |
ORPHA:493 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Follicular hyperkeratosis, Angular cheilitis |
OMIM:613102 |
| Angelman Syndrome Due To A Point Mutation |
|
Widely spaced teeth, Dysphagia, Wide mouth, Drooling, Abnormal eating behavior, Protruding tongue |
ORPHA:411511 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cleft palate, Glossoptosis |
OMIM:618356 |
| Neuroleptic Malignant Syndrome |
|
Dysphagia, Dehydration, Excessive salivation, Drooling |
ORPHA:94093 |
| Deafness-Craniofacial Syndrome |
|
Abnormal palate morphology, Short lingual frenulum, Short philtrum, Bifid tongue, Abnormality of ... |
ORPHA:3241 |
| Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Polydipsia, Polyhydramnios |
ORPHA:223 |
| Kindler Epidermolysis Bullosa |
|
Carious teeth, Dysphagia, Inflammation of the large intestine, Colitis, Cheilitis, Abnormality of... |
ORPHA:2908 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Cleft palate, Bifid uvula |
OMIM:303400 |
| Holzgreve Syndrome |
|
Cleft palate, Bifid tongue, Oligohydramnios, Aplasia/Hypoplasia of the tongue |
ORPHA:2167 |
| Kanzaki Disease |
|
Thick lower lip vermilion, Lip telangiectasia, Hyperkeratosis, Telangiectasia of the oral mucosa,... |
OMIM:609242 |
| Shigellosis |
|
Acute colitis, Intestinal perforation, Paralytic ileus, Dehydration, Ulcerative colitis |
ORPHA:810 |
| Hypomandibular Faciocranial Dysostosis |
|
Cleft palate, Death in infancy, Aplasia/Hypoplasia of the tongue, Bifid uvula, Polyhydramnios, Na... |
ORPHA:1790 |
| Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Gingival bleeding, Open bite, Xerostomia, Ankyloglossia, Gingivitis, Narrow mout... |
ORPHA:2907 |
| Prolidase Deficiency |
|
Carious teeth, Pruritus, Palmoplantar keratoderma, Hyperkeratosis, Crusting erythematous dermatitis |
ORPHA:742 |
| Hypoglossia With Situs Inversus |
|
Hypodontia, High palate, Microglossia, Narrow mouth |
OMIM:612776 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Edema, Dehydration |
ORPHA:20 |
| Clark-Baraitser syndrome |
|
Thick lower lip vermilion, Exaggerated median tongue furrow, Maxillary lateral incisor microdonti... |
OMIM:300602 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Epidermal hyperkeratosis, Palpebral edema, Thick vermilion border, Lymphedema |
OMIM:137940 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Rectal prolapse, Acute colitis, Intestinal perforation, Intussusception, Colonic stenosis, Dehydr... |
ORPHA:90038 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
| Popov-Chang syndrome |
|
Thick vermilion border, Long philtrum, Thin upper lip vermilion, Hyperkeratosis |
OMIM:618428 |
| Punctate Palmoplantar Keratoderma Type 1 |
|
Hyperkeratotic papule, Esophageal neoplasm, Stomach cancer, Adenocarcinoma of the small intestine... |
ORPHA:79501 |
| Sialidosis Type 1 |
|
Thick lower lip vermilion, Hyperkeratosis |
ORPHA:812 |
| Infantile Nephropathic Cystinosis |
|
Dehydration, Polydipsia |
ORPHA:411629 |
| Tyrosinemia Type 2 |
|
Palmoplantar keratoderma, Hyperkeratosis |
ORPHA:28378 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Dehydration |
ORPHA:230 |
| Atkin-Flaitz Syndrome |
|
Thick lower lip vermilion, Exaggerated median tongue furrow, Maxillary lateral incisor microdonti... |
OMIM:300431 |
| Arthrogryposis And Ectodermal Dysplasia |
|
Cleft palate, Oligodontia, Cleft upper lip, Abnormal dental enamel morphology, Hyperkeratosis, Or... |
OMIM:601701 |
| Orofaciodigital Syndrome Iii |
|
Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Bifid tongue |
OMIM:258850 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Dehydration |
ORPHA:90791 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Hyperkeratosis |
ORPHA:36386 |
| Cholera |
|
Dehydration |
ORPHA:173 |
| Alacrima, Achalasia, And Mental Retardation Syndrome |
|
Dysphagia, Hyperkeratosis |
OMIM:615510 |
| Trichothiodystrophy 1, Photosensitive |
|
Erythroderma, Malabsorption, Intestinal obstruction, Congenital nonbullous ichthyosiform erythrod... |
OMIM:601675 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Follicular hyperkeratosis |
ORPHA:1809 |
| Cowden Syndrome 5 |
|
High palate, Furrowed tongue, Colonic diverticula, Narrow mouth, Hamartomatous polyposis, Palmopl... |
OMIM:615108 |
| Tetraamelia Syndrome 2 |
|
Ankyloglossia, Bilateral cleft lip, Glossoptosis |
OMIM:618021 |
| Bartter Syndrome, Type 3 |
|
Dehydration |
OMIM:607364 |
| Agnathia-Otocephaly Complex |
|
Narrow mouth, Cleft palate, Microglossia, Aglossia |
OMIM:202650 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3 |
|
Neonatal death, Microcolon |
OMIM:619362 |
| Bone Marrow Failure Syndrome 3 |
|
Hypodontia, Eczema, Microdontia, Amelogenesis imperfecta, Enamel hypoplasia, Hyperkeratosis |
OMIM:617052 |
| Cardiofaciocutaneous Syndrome 1 |
|
Atopic dermatitis, High palate, Dental malocclusion, Open bite, Deep philtrum, Polyhydramnios, Ic... |
OMIM:115150 |
| Orofaciodigital Syndrome Iv |
|
High palate, Cleft palate, Hamartoma of tongue, Tongue nodules, Accessory oral frenulum, Lobulate... |
OMIM:258860 |
| Ulnar Agenesis And Endocardial Fibroelastosis |
|
Neonatal death, Hydrops fetalis |
OMIM:276822 |
| Lysosomal Acid Lipase Deficiency |
|
Esophageal varix, Ascites, Pruritus, Steatorrhea, Dehydration |
ORPHA:275761 |
| Microcolon |
|
Microcolon |
OMIM:251400 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Hypodontia, Submucous cleft hard palate, Glossoptosis |
ORPHA:3201 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Widely spaced teeth, Dysphagia, Protruding tongue, Wide mouth |
ORPHA:98795 |
| Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
|
Sclerodactyly, Orthokeratotic hyperkeratosis, Palmoplantar keratoderma, Premature loss of permane... |
OMIM:610644 |
| Mandibulofacial Dysostosis With Alopecia |
|
Cleft palate, Glossoptosis, Delayed eruption of primary teeth, Everted lower lip vermilion, Denta... |
OMIM:616367 |
| Pearson Syndrome |
|
Dysphagia, Corneal stromal edema, Median cleft lip and palate, Steatorrhea, Dehydration, Hydrops ... |
ORPHA:699 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Cleft palate, Aganglionic megacolon, Erythroderma, Follicular hyperkeratosis, Oligohydramnios |
OMIM:308205 |
| Colchicine Poisoning |
|
Dehydration |
ORPHA:31824 |
| Down Syndrome |
|
Thick lower lip vermilion, Aganglionic megacolon, Microdontia, Macroglossia, Anal atresia, Narrow... |
ORPHA:870 |
| Rare Cutaneous Lupus Erythematosus |
|
Deep dermal perivascular inflammatory infiltrate, Pustule, Superficial dermal perivascular inflam... |
ORPHA:535 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Pyoderma, Edema, Abnormal oral mucosa morphology, Enamel hypoplasia, Recurrent skin infections, E... |
ORPHA:79404 |
| Distal Renal Tubular Acidosis |
|
Dehydration, Polydipsia |
ORPHA:18 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Abnormality of the dentition, Hyperkeratosis |
ORPHA:1806 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Downturned corners of mouth, Dehydration |
ORPHA:99885 |
| Cowden Syndrome 6 |
|
High palate, Furrowed tongue, Colonic diverticula, Narrow mouth, Hamartomatous polyposis, Palmopl... |
OMIM:615109 |
| Spinocerebellar Ataxia 36 |
|
Dysphagia, Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Abnormal dental enamel morphology, Ichthyosis, Hyperkeratosis |
ORPHA:1005 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
| Kid Syndrome |
|
Neoplasm of the tongue, Psoriasiform dermatitis, Lip fissure, Folliculitis, Recurrent cutaneous a... |
ORPHA:477 |
| Proximal Renal Tubular Acidosis |
|
Enamel hypomineralization, Dehydration, Malabsorption, Polydipsia |
ORPHA:47159 |
| Cystinosis, Nephropathic |
|
Oral-pharyngeal dysphagia, Dysphagia, Dehydration, Polydipsia |
OMIM:219800 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Widely spaced teeth, Dysphagia, Wide mouth, Drooling, Abnormal eating behavior, Protruding tongue |
ORPHA:98794 |
| Vipoma |
|
Dehydration, Malabsorption, Ascites |
ORPHA:97282 |
| Hartnup Disease |
|
Glossitis, Gingivitis, Malabsorption, Skin rash |
ORPHA:2116 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Agenesis of central incisor, Cleft palate, Pierre-Robin sequence, Oligodontia, Long upper lip, Mi... |
ORPHA:364577 |
| Mandibuloacral Dysplasia |
|
High palate, Acanthosis nigricans, Abnormal tongue morphology, Hypoplasia of teeth, Dental crowding |
ORPHA:2457 |
| Developmental And Epileptic Encephalopathy 80 |
|
High palate, Smooth philtrum, Wide mouth, Death in infancy, Long philtrum, Tented upper lip vermi... |
OMIM:618580 |
| Oculocutaneous Albinism Type 1A |
|
Thickened skin, Hyperkeratosis |
ORPHA:79431 |
| Mcdonough Syndrome |
|
Furrowed tongue, Short philtrum, Dental malocclusion |
OMIM:248950 |
| Juvenile Nephropathic Cystinosis |
|
Dehydration, Polydipsia |
ORPHA:411634 |
| Cowden Syndrome 1 |
|
High palate, Furrowed tongue, Colonic diverticula, Acrokeratosis, Narrow mouth, Hamartomatous pol... |
OMIM:158350 |
| Moebius Syndrome |
|
Dysphagia, High palate, Cleft palate, Microdontia, Death in infancy, Aplasia/Hypoplasia of the to... |
ORPHA:570 |
| Reactive Arthritis |
|
Inflammation of the large intestine, Pustule, Hyperkeratosis, Recurrent aphthous stomatitis, Join... |
ORPHA:29207 |
| Spinocerebellar Ataxia Type 36 |
|
Dysphagia, Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
| Pyruvate Carboxylase Deficiency |
|
Dehydration |
ORPHA:3008 |
| Microsporidiosis |
|
Dehydration, Glossitis |
ORPHA:2552 |
| Trisomy 8Q |
|
High palate, Cleft palate, Bifid tongue, Non-midline cleft lip, Everted lower lip vermilion, Abno... |
ORPHA:1752 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Microglossia, Narrow mouth, Polyhydramnios |
ORPHA:990 |
| Otospondylomegaepiphyseal Dysplasia |
|
Bifid uvula, Cleft palate, Glossoptosis, Polyhydramnios |
ORPHA:1427 |
| 9q subtelomeric deletion syndrome |
|
Protruding tongue |
DECIPHER:52 |
| Ullrich Congenital Muscular Dystrophy 1 |
|
Follicular hyperkeratosis, High palate |
OMIM:254090 |
| Meconium Ileus |
|
Meconium ileus, Microcolon |
OMIM:614665 |
| Noonan Syndrome 10 |
|
Increased nuchal translucency, High palate, Pleural effusion, Hyperkeratosis |
OMIM:616564 |
| Autosomal Dominant Cerebellar Ataxia |
|
Tongue fasciculations, Tongue atrophy, Pseudobulbar paralysis, Hyperkeratosis |
ORPHA:99 |
| Catel-Manzke Syndrome |
|
Cleft upper lip, High palate, Cleft palate, Glossoptosis |
OMIM:616145 |
| Mohr Syndrome |
|
Agenesis of central incisor, High palate, Cleft palate, Tongue nodules, Accessory oral frenulum, ... |
OMIM:252100 |
| Chime Syndrome |
|
Hypodontia, Cleft palate, Microdontia, Short philtrum, Supernumerary tooth, Abnormality of dental... |
ORPHA:3474 |
| X-Linked Agammaglobulinemia |
|
Malabsorption, Skin rash, Glossoptosis, Recurrent cutaneous abscess formation |
ORPHA:47 |
| Carey-Fineman-Ziter Syndrome |
|
High palate, Cleft palate, Pierre-Robin sequence, Long philtrum, Aplasia/Hypoplasia of the tongue... |
ORPHA:1358 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Cleft palate, Smooth philtrum, Pierre-Robin sequence, Oligodontia, Long upper lip, High palate, L... |
OMIM:608670 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Diastema, Wide mouth, Gingival overgrowth, Thin vermilion border, Everted lower lip vermilion, Op... |
OMIM:212066 |
| Raine Syndrome |
|
High palate, Cleft palate, Microdontia, Wide mouth, Neonatal death, Gingival overgrowth, Enamel h... |
OMIM:259775 |
| Congenital Sialidosis Type 2 |
|
Edema, Gingival overgrowth, Ascites, Protruding tongue |
ORPHA:93400 |
| Cardiofaciocutaneous Syndrome |
|
High palate, Long philtrum, Palmoplantar keratoderma, Ichthyosis, Hyperkeratosis, Submucous cleft... |
ORPHA:1340 |
| 46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:168558 |
| Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Dehydration |
ORPHA:289548 |
| Noonan Syndrome 2 |
|
Increased nuchal translucency, High palate, Polyhydramnios, Hyperkeratosis |
OMIM:605275 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
High palate, Stomatitis, Glossitis, Skin rash, Thin upper lip vermilion |
OMIM:277380 |
| Acrodermatitis Enteropathica |
|
Pustule, Cheilitis, Malabsorption, Furrowed tongue, Abnormality of the tongue, Glossitis |
ORPHA:37 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Dysphagia, Tongue atrophy, Tongue fasciculations |
OMIM:211530 |
| Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked |
|
Colitis, Hyperkeratosis |
OMIM:301220 |
| Mycetoma |
|
Recurrent bacterial skin infections, Cobblestone-like hyperkeratosis |
ORPHA:2583 |
| Cystic Fibrosis |
|
Rectal prolapse, Ileus, Steatorrhea, Meconium ileus, Dehydration |
OMIM:219700 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Xerostomia, Malabsorption, Glossitis, Hamartomatous polyposis, Protein-losing enteropathy |
OMIM:175500 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Macroglossia, Cleft palate, Protruding tongue, Bifid uvula |
OMIM:612938 |
| Bartter Syndrome, Type 2, Antenatal |
|
Dehydration, Polydipsia, Polyhydramnios |
OMIM:241200 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
High palate, Cleft palate, Microdontia, Microglossia, Narrow mouth |
ORPHA:1307 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Narrow palate, Dental crowding, Exaggerated median tongue furrow |
ORPHA:313892 |
| Rabson-Mendenhall Syndrome |
|
High palate, Acanthosis nigricans, Polydipsia, Macroglossia, Gingival overgrowth, Furrowed tongue... |
ORPHA:769 |
| Acro-Renal-Mandibular Syndrome |
|
High palate, Short philtrum, Aplasia/Hypoplasia of the tongue, Oligohydramnios, Tracheoesophageal... |
ORPHA:958 |
| Short-Rib Thoracic Dysplasia 12 |
|
Hamartoma of tongue, Ascites, Median cleft lip and palate, Edema, Neonatal death, Polyhydramnios,... |
OMIM:269860 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Ankyloglossia, Supernumerary tooth |
OMIM:106280 |
| Autoinflammation With Arthritis And Dyskeratosis |
|
Follicular hyperkeratosis, Palmoplantar hyperkeratosis |
OMIM:617388 |
| Eec Syndrome |
|
Carious teeth, Cleft palate, Microdontia, Xerostomia, Abnormal dental enamel morphology, Taurodon... |
ORPHA:1896 |
| Angelman Syndrome |
|
Widely spaced teeth, Wide mouth, Macroglossia, Drooling, Protruding tongue |
OMIM:105830 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Eczema, High palate, Polyhydramnios, Ichthyosis, Hyperkeratosis |
OMIM:607721 |
| Hypoglossia-Hypodactyly Syndrome |
|
Hypodontia, High palate, Cleft palate, Death in infancy, Aplasia/Hypoplasia of the tongue, Jejuna... |
ORPHA:989 |
| Fucosidosis |
|
Generalized hyperkeratosis, Abnormality of the dentition |
ORPHA:349 |
| Seckel Syndrome 2 |
|
Microglossia, Microdontia |
OMIM:606744 |
| Lethal Faciocardiomelic Dysplasia |
|
Microglossia, Narrow mouth |
ORPHA:1972 |
| Juvenile Sialidosis Type 2 |
|
Dysphagia, Gingival overgrowth, Protruding tongue |
ORPHA:93399 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Bifid uvula, Lobulated tongue, Abnormality of the denti... |
ORPHA:2752 |
| Kleefstra Syndrome 1 |
|
U-Shaped upper lip vermilion, Macroglossia, Everted lower lip vermilion, Persistence of primary t... |
OMIM:610253 |
| X-Linked Dystonia-Parkinsonism |
|
Protruding tongue, Impaired oropharyngeal swallow response |
ORPHA:53351 |
| Agel Amyloidosis |
|
Xerostomia, Pruritus, Edema, Tongue atrophy, Blepharochalasis |
ORPHA:85448 |
| 9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology |
ORPHA:531151 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis |
ORPHA:93346 |
| Ramon Syndrome |
|
Gingival fibromatosis, Narrow palate, Delayed eruption of teeth, Hyperkeratosis |
OMIM:266270 |
| Orofaciodigital Syndrome I |
|
Carious teeth, High palate, Cleft palate, Alveolar ridge overgrowth, Tongue nodules, Supernumerar... |
OMIM:311200 |
| Tarp Syndrome |
|
Tongue nodules, High palate, Cleft palate, Glossoptosis |
OMIM:311900 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bilateral cleft lip and palate, Bifid tongue, Intestinal malrotation |
ORPHA:2001 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Cleft palate, Glossoptosis |
ORPHA:440354 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Protruding tongue, Malabsorption |
OMIM:242860 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
High palate, Cleft palate, Oligodontia, Macroglossia, Furrowed tongue, Bifid uvula, Increased nuc... |
ORPHA:453499 |
| Myopathy, Myofibrillar, 7 |
|
Dysphagia, Tongue atrophy |
OMIM:617114 |
| Pitt-Hopkins-Like Syndrome 2 |
|
Protruding tongue, Wide mouth, Drooling |
OMIM:614325 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
High palate, Smooth philtrum, Diastema, Furrowed tongue, Thin upper lip vermilion |
OMIM:300534 |
| Incontinentia Pigmenti |
|
Hypodontia, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormality of dental m... |
ORPHA:464 |
| Marburg Hemorrhagic Fever |
|
Dehydration, Maculopapular exanthema, Skin rash |
ORPHA:99826 |
| Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
High palate, Long philtrum, Macroglossia, Protruding tongue, Dental crowding |
OMIM:141750 |
| Bartter Syndrome, Type 1, Antenatal |
|
Dehydration, Polyhydramnios |
OMIM:601678 |
| Autosomal Recessive Robinow Syndrome |
|
Abnormal palate morphology, Hypodontia, Death in infancy, Wide mouth, Open bite, Long philtrum, S... |
ORPHA:1507 |
| Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Glossitis, Cleft palate, Skin rash, Stomatitis |
ORPHA:79284 |
| Multiple Endocrine Neoplasia Type 1 |
|
Gingival fibromatosis, Duodenal ulcer, Dehydration, Peptic ulcer |
ORPHA:652 |
| Bethlem Myopathy |
|
Hyperkeratosis |
ORPHA:610 |
| Ritscher-Schinzel Syndrome 2 |
|
Protruding tongue, Short philtrum |
OMIM:300963 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Palmoplantar keratoderma, Enamel hypoplasia, Recurrent skin infections, Smooth tongue, Oral mucos... |
ORPHA:79396 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Gingival overgrowth, Wide mouth, Protruding tongue |
OMIM:618797 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Aglossia |
OMIM:241310 |
| Cleidocranial Dysplasia |
|
Carious teeth, High, narrow palate, Cleft palate, Open bite, Supernumerary tooth, Abnormal dental... |
ORPHA:1452 |
| Marshall-Smith Syndrome |
|
Gingival overgrowth, Open mouth, Protruding tongue |
ORPHA:561 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Smooth philtrum, Protruding tongue, Everted lower lip vermilion |
ORPHA:324410 |
| Down Syndrome |
|
Aganglionic megacolon, Duodenal stenosis, Macroglossia, Anal atresia, Protruding tongue |
OMIM:190685 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
High, narrow palate, Cleft palate, Open bite, Exaggerated median tongue furrow, Macroglossia, Int... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
High, narrow palate, Cleft palate, Open bite, Exaggerated median tongue furrow, Macroglossia, Int... |
ORPHA:352665 |
| Hypoglossia-Hypodactylia |
|
Narrow mouth, Aglossia, Microglossia |
OMIM:103300 |
| Angelman Syndrome |
|
Widely spaced teeth, Dysphagia, Wide mouth, Polyphagia, Drooling, Protruding tongue |
ORPHA:72 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Dysphagia, Macroglossia, Impaired mastication, Cerebral edema, Open mouth, Protruding tongue |
ORPHA:258 |
| Lymphatic Filariasis |
|
Predominantly lower limb lymphedema, Lymphedema, Hyperkeratosis |
ORPHA:2035 |
| Primary Fanconi Renotubular Syndrome |
|
Dehydration |
ORPHA:3337 |
| Orofaciodigital Syndrome Type 1 |
|
Odontogenic neoplasm, Hypodontia, Cleft palate, High palate, Hamartoma of tongue, Open bite, Tong... |
ORPHA:2750 |
| Orofaciodigital Syndrome Type 2 |
|
Peg-shaped maxillary lateral incisors, Agenesis of central incisor, Cleft palate, High palate, Ha... |
ORPHA:2751 |
| Cohen Syndrome |
|
High, narrow palate, Short philtrum, Aplasia/Hypoplasia of the tongue, Gingival overgrowth, Open ... |
ORPHA:193 |
| Gracile Bone Dysplasia |
|
Ankyloglossia, Ascites |
OMIM:602361 |
| Icf Syndrome |
|
Macroglossia, Protruding tongue, Malabsorption |
ORPHA:2268 |
| Infantile Bartter Syndrome With Sensorineural Deafness |
|
Dehydration, Polyhydramnios |
ORPHA:89938 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Gingival overgrowth, Long philtrum |
OMIM:619179 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Cleft palate, Long philtrum, Gingival overgrowth, Bifid tongue, Cleft lip, Downturned corners of ... |
OMIM:616894 |
| Hermansky-Pudlak Syndrome |
|
Thickened skin, Abnormal dental enamel morphology, Malabsorption, Hyperkeratosis |
ORPHA:79430 |
| Marshall-Smith Syndrome |
|
Irregular dentition, Eclabion, Short philtrum, Gingival overgrowth, Glossoptosis, Short mandibula... |
OMIM:602535 |
| Werner Syndrome |
|
Neoplasm of the oral cavity, Hyperkeratosis |
ORPHA:902 |
| Orofaciodigital Syndrome Type 6 |
|
High palate, Cleft palate, Hamartoma of tongue, Tongue nodules, Midline notch of upper alveolar r... |
ORPHA:2754 |
| Cerebrocostomandibular Syndrome |
|
High palate, Long philtrum, Cleft soft palate, Polyhydramnios, Glossoptosis, Abnormality of the d... |
OMIM:117650 |
| Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Dysphagia, Smooth tongue, Abnormal dental enamel morphology |
OMIM:601559 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate, Follicular hyperkeratosis |
OMIM:614557 |
| Treacher-Collins Syndrome |
|
Cleft palate, High palate, Wide mouth, Open bite, Rectovaginal fistula, Cleft upper lip, Abnormal... |
ORPHA:861 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Carious teeth, Dysphagia, Ankyloglossia, Recurrent skin infections, Anal fissure, Narrow mouth, E... |
ORPHA:89842 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Macroglossia, Downturned corners of mouth, Protruding tongue, Everted lower lip vermilion |
ORPHA:96147 |
| Ramos-Arroyo Syndrome |
|
Carious teeth, Aganglionic megacolon, Long philtrum, Xerostomia, Narrow mouth, Smooth tongue |
ORPHA:1051 |
| Arthrogryposis, Distal, Type 5D |
|
Cleft palate, Furrowed tongue |
OMIM:615065 |
