| Milia, Multiple Eruptive |
|
Milia |
OMIM:157400 |
| Nevus Comedonicus |
|
Nevus comedonicus |
OMIM:617025 |
| Elastosis Perforans Serpiginosa |
|
Nevus |
OMIM:130100 |
| Capillary Malformations, Congenital |
|
Nevus flammeus |
OMIM:163000 |
| Nevus Flammeus Of Nape Of Neck |
|
Nevus flammeus nuchae |
OMIM:163100 |
| Knuckle Pads |
|
Subcutaneous nodule |
OMIM:149100 |
| Dyschromatosis Universalis Hereditaria 3 |
|
Hypopigmented macule, Hypermelanotic macule |
OMIM:615402 |
| Nevus, Epidermal |
|
Melanocytic nevus, Numerous nevi |
OMIM:162900 |
| Syringocystadenoma Papilliferum |
|
Papule, Nevus sebaceous, Subcutaneous nodule |
ORPHA:840 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Pruritus on foot, Erythematous papule, Eczematoid dermatitis, Pruritis on breast, Urticarial plaq... |
ORPHA:64745 |
| Darier Disease |
|
Plantar pits, Palmoplantar keratoderma, Hypermelanotic macule, Subungual hyperkeratotic fragments... |
ORPHA:218 |
| Pemphigus Foliaceus |
|
Abnormal oral mucosa morphology, Erythema, Skin erosion, Psoriasiform dermatitis, Erythematous pl... |
ORPHA:79481 |
| Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Congenital absence of skin of limbs, Aplasia cutis congenita |
OMIM:600360 |
| Aplasia Cutis Congenita, Nonsyndromic |
|
Aplasia cutis congenita over the scalp vertex |
OMIM:107600 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Hyperkeratotic papule, Localized skin lesion, Carious teeth, Atypical scarring of skin, Keloids, ... |
ORPHA:79410 |
| Familial Benign Chronic Pemphigus |
|
Erythema, Skin erosion, Skin vesicle |
ORPHA:2841 |
| Pemphigoid Gestationis |
|
Skin vesicle |
ORPHA:63275 |
| Iga Pemphigus |
|
Annular cutaneous lesion, Skin erosion, Cutaneous abscess, Neutrophilic infiltration of the skin,... |
ORPHA:555905 |
| Erythema Elevatum Diutinum |
|
Skin nodule, Skin vesicle |
ORPHA:90000 |
| Dowling-Degos Disease |
|
Hyperkeratotic papule, Palmar pits, Erythematous papule, Acne inversa, Epidermoid cyst, Hypermela... |
ORPHA:79145 |
| Lichen Planus Pemphigoides |
|
Abnormal oral mucosa morphology, Skin vesicle, Pruritus, Hyperkeratosis |
ORPHA:254478 |
| Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
|
Protracted diarrhea, Villous atrophy, Death in infancy, Abnormal intestine morphology, Dehydration |
OMIM:251850 |
| Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Parakeratosis, Pruritus, Skin vesicle, Erythema migrans |
ORPHA:158681 |
| Wells Syndrome |
|
Skin vesicle |
ORPHA:901 |
| Familial Reactive Perforating Collagenosis |
|
Abnormal oral mucosa morphology, Hyperkeratotic papule, Inflammatory abnormality of the skin, Ery... |
ORPHA:79147 |
| Warty Dyskeratoma |
|
Localized skin lesion, Erythematous papule, Oral mucosa nodule, Abnormal hard palate morphology, ... |
ORPHA:69745 |
| Dermatitis Herpetiformis |
|
Dental enamel pits, Erythema, Eczematoid dermatitis, Delayed eruption of teeth, Erosion of oral m... |
ORPHA:1656 |
| Pierre Robin Syndrome |
|
Neonatal respiratory distress, Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:261800 |
| Pemphigus Erythematosus |
|
Localized skin lesion, Skin erosion, Hypopigmented skin patches, Focal dermal aplasia/hypoplasia,... |
ORPHA:79480 |
| Darier-White Disease |
|
Palmar pits, Plantar pits, Hypermelanotic macule, Enlargement of parotid gland, Subungual hyperke... |
OMIM:124200 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Abnormality of the dentition, Papule, Hypermelanotic macule, Milia, Hypomelanotic macule, Oral mu... |
ORPHA:79399 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Pustule, Eosinophilic dermal infiltration, Skin ves... |
ORPHA:293173 |
| Pruritic Urticarial Papules And Plaques Of Pregnancy |
|
Striae distensae |
OMIM:178995 |
| Striae Distensae, Familial |
|
Striae distensae |
OMIM:185200 |
| Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin, Pruritus, Hyperkeratosis |
ORPHA:735 |
| Lactase Deficiency, Congenital |
|
Diarrhea, Decreased small intestinal mucosa lactase level, Dehydration |
OMIM:223000 |
| Pyoderma Gangrenosum |
|
Atrophic scars, Papule, Skin vesicle, Skin ulcer |
ORPHA:48104 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule, Skin vesicle |
ORPHA:257 |
| Isolated Pierre Robin Syndrome |
|
Neonatal respiratory distress, Glossoptosis, Cleft palate |
ORPHA:718 |
| Proliferating Trichilemmal Cyst |
|
Skin ulcer, Epidermoid cyst |
ORPHA:492 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Abnormality of the dentition, Angular cheilitis, Follicular hyperkeratosis, Skin vesicle |
OMIM:613102 |
| Spinal Muscular Atrophy, Type I |
|
Tongue fasciculations, Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:253300 |
| Acrokeratosis Verruciformis |
|
Verrucous papule, Acrokeratosis, Punctate palmoplantar hyperkeratosis, Acantholysis, Hyperkeratosis |
OMIM:101900 |
| Chronic Hiccup |
|
Abnormal eating behavior, Dehydration |
ORPHA:396 |
| Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Oral leukoplakia, Dry skin, Angular cheilitis, Follicular hyperkeratosis, Punctate palmoplantar h... |
OMIM:616295 |
| Inflammatory Skin And Bowel Disease, Neonatal, 2 |
|
Vomiting, Secretory diarrhea, Pustule, Polyhydramnios, Papule, Dehydration |
OMIM:616069 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Abnormality of the dentition, Papule, Eczematoid dermatitis, Delayed eruption of teeth, Skin ulce... |
ORPHA:2314 |
| Superficial Epidermolytic Ichthyosis |
|
Erythema, Acantholysis, Palmoplantar keratoderma, Thin skin |
ORPHA:455 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Tongue fasciculations, Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:616081 |
| Congenital Short Bowel Syndrome |
|
Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal... |
OMIM:615237 |
| Diarrhea 4, Malabsorptive, Congenital |
|
Vomiting, Diarrhea, Dehydration |
OMIM:610370 |
| Melkersson-Rosenthal Syndrome |
|
Facial edema, Furrowed tongue |
OMIM:155900 |
| Ichthyosis, Congenital, Autosomal Recessive 12 |
|
White scaling skin |
OMIM:617320 |
| High-Grade Dysplasia In Patients With Barrett Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction |
ORPHA:231080 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Acne, Microglossia, Thick lower lip vermilion, Pustule, Subcutan... |
ORPHA:530 |
| Combined Malonic And Methylmalonic Aciduria |
|
Diarrhea, Vomiting, Dehydration |
OMIM:614265 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Erythema, Dermal atrophy, Milia, Erythematous plaque, Crusting erythematous dermatitis, Palmoplan... |
ORPHA:158673 |
| Alpha-Methylacetoacetic Aciduria |
|
Vomiting, Dehydration |
OMIM:203750 |
| Hennekam-Beemer Syndrome |
|
Erythema, Papule, Respiratory insufficiency, Thick lower lip vermilion, Skin vesicle, Subcutaneou... |
ORPHA:2135 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:300717 |
| Diffuse Palmoplantar Keratoderma, Bothnian Type |
|
Erythema, Papule, Skin ulcer, Diffuse palmoplantar hyperkeratosis, Pruritus |
ORPHA:2337 |
| Familial Cold Urticaria |
|
Erythema, Pruritus, Polydipsia, Dehydration |
ORPHA:47045 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue fasciculations, Respiratory failure, Tongue atrophy, Dysphagia |
OMIM:613435 |
| Reticular Dysgenesis |
|
Skin rash, Diarrhea, Skin ulcer, Dehydration |
ORPHA:33355 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Skin erosion, Natal tooth, Neonatal death, Aplasia cutis congenita, Acantholysis |
OMIM:609638 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
| Epidermolysis Bullosa Dystrophica, Pretibial |
|
Atrophic scars, Pruritus, Hyperkeratosis |
OMIM:131850 |
| Congenital Myopathy 10A, Severe Variant |
|
Tongue fasciculations, Gastroesophageal reflux, Respiratory insufficiency, High palate, Dysphagia... |
OMIM:614399 |
| Pemphigus Vulgaris |
|
Atypical scarring of skin, Urticarial plaque, Erosion of oral mucosa, Oral mucosal blisters, Acan... |
ORPHA:704 |
| Dyskeratosis Congenita |
|
Abnormality of the dentition, Carious teeth, Periodontitis, Oral leukoplakia, Palmoplantar kerato... |
ORPHA:1775 |
| Secondary Short Bowel Syndrome |
|
Diarrhea, Vomiting, Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic m... |
ORPHA:95427 |
| Erythrokeratodermia Variabilis Et Progressiva 6 |
|
Abnormal dental morphology, Erythematous plaque, Superficial dermal perivascular inflammatory inf... |
OMIM:618531 |
| Sweet Syndrome |
|
Inflammation of the large intestine, Erythematous papule, Acne inversa, Predominantly dermal neut... |
ORPHA:3243 |
| Lamellar Ichthyosis |
|
Dry skin, Lack of skin elasticity, Erythroderma, Pruritus, Hyperkeratosis, Dehydration |
ORPHA:313 |
| Porphyria Variegata |
|
Localized skin lesion, Skin erosion, Milia, Ileus, Skin vesicle, Constipation, Nausea, Hepatocell... |
ORPHA:79473 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Ichthyosis, Congenital, Autosomal Recessive 14 |
|
Erythema, Orthokeratotic hyperkeratosis, Scaling skin, Pruritus, Hyperkeratosis |
OMIM:617571 |
| Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Aplasia cutis congenita of scalp, Congenital pyloric atresia, Oral mucosal blisters, Neonatal dea... |
OMIM:619817 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:311895 |
| Central Diabetes Insipidus |
|
Diarrhea, Polydipsia, Dehydration, Anorexia |
ORPHA:178029 |
| Isobutyryl-Coa Dehydrogenase Deficiency |
|
Vomiting, Dehydration |
ORPHA:79159 |
| Nemaline Myopathy 8 |
|
Dysphagia, Respiratory failure, Death in infancy |
OMIM:615348 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Protein-losing enteropathy, Hematochezia, Diarrhea, Edema, Dehydration |
ORPHA:103910 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Palmoplantar keratoderma, Tooth agenesis, Palmoplantar scaling skin, Death in early adulthood, De... |
OMIM:605676 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:613869 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Gingival fibromatosis, Gingival overgrowth, Median cleft palate, Respiratory failure |
ORPHA:1832 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Dehydration |
OMIM:601410 |
| Hyperkeratosis Lenticularis Perstans |
|
Papule, Skin ulcer, Hyperkeratosis lenticularis perstans, Aplasia/Hypoplasia of the skin, Pruritus |
ORPHA:409 |
| Lichen Planopilaris |
|
Hypopigmented skin patches, Skin ulcer, Neoplasm of the oral cavity, Dermal atrophy, Abnormal int... |
ORPHA:525 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Tongue fasciculations, Respiratory failure |
OMIM:600561 |
| Congenital Myopathy 14 |
|
High palate, Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness |
OMIM:618414 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, High palate, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:611890 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Dysphagia, Respiratory failure, Respiratory insufficiency |
ORPHA:266 |
| Hereditary Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
| Amyotrophic Lateral Sclerosis 28 |
|
Dysphagia, Respiratory failure |
OMIM:620452 |
| Pityriasis Rubra Pilaris |
|
Papule, Subungual hyperkeratosis, Palmoplantar keratoderma, Eczematoid dermatitis, Pustule, Abnor... |
ORPHA:2897 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Orthokeratosis, Palmoplantar keratoderma, Psoriasiform dermatitis, Eosinophilic infiltration of t... |
OMIM:615508 |
| Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Vomiting, Dehydration, Neonatal death |
OMIM:602199 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Dysphagia, Respiratory failure, Death in infancy |
OMIM:225753 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Dysphagia, Dehydration |
OMIM:618958 |
| Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Atopic dermatitis, Gastroesophageal reflux, Vomiting, Eosinophilic microabscess formation in the ... |
ORPHA:411696 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Cataract, Glossoptosis, Death in infancy |
OMIM:614876 |
| Harlequin Ichthyosis |
|
Self-injurious behavior, Hyperkeratosis, Erythroderma, Dehydration |
ORPHA:457 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Gastrointestinal dysmotility, Dysphagia, Respiratory failure |
OMIM:618637 |
| Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Visceral Myopathy 2 |
|
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... |
OMIM:619350 |
| Woolly Hair-Skin Fragility Syndrome |
|
Acantholysis, Palmoplantar keratoderma |
OMIM:620415 |
| Chronic Graft Versus Host Disease |
|
Erythema, Gastroesophageal reflux, Xerostomia, Diarrhea, Skin ulcer, Ascites, Abnormal esophagus ... |
ORPHA:99921 |
| Psoriasis 14, Pustular |
|
Erythema, Furrowed tongue, Psoriasiform dermatitis, Pustule, Parakeratosis, Geographic tongue |
OMIM:614204 |
| Combined Malonic And Methylmalonic Acidemia |
|
Intermittent diarrhea, Vomiting, Dehydration |
ORPHA:289504 |
| Microvillus Inclusion Disease |
|
Diarrhea, Villous atrophy, Abnormal small intestinal villus morphology, Pruritus, Dehydration |
ORPHA:2290 |
| Chikungunya |
|
Facial edema, Erythema, Vomiting, Diarrhea, Joint swelling, Petechiae, Skin rash, Crusting erythe... |
ORPHA:324625 |
| Congenital Tufting Enteropathy |
|
Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor... |
ORPHA:92050 |
| Ring Dermoid Of Cornea |
|
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... |
OMIM:180550 |
| Hyperekplexia 4 |
|
High palate, Respiratory failure |
OMIM:618011 |
| Enteric Anendocrinosis |
|
Vomiting, Diarrhea, Dehydration |
ORPHA:83620 |
| Vulvovaginal Gingival Syndrome |
|
Erythema, Skin erosion, Oral ulcer, Parakeratosis, Gingivitis, Pruritus |
ORPHA:83453 |
| Hereditary Mucoepithelial Dysplasia |
|
Cataract, Alopecia, Fine hair, Furrowed tongue, Gingival overgrowth, Hematuria, Tracheoesophageal... |
ORPHA:1839 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Abnormality of the tongue muscle, Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Palmoplantar keratoderma, Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Hyperkeratosi... |
OMIM:616029 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Dysphagia, Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:90117 |
| Transient Neonatal Diabetes Mellitus |
|
Macroglossia, Dehydration |
ORPHA:99886 |
| Leukocyte Adhesion Deficiency Type Ii |
|
Gingival overgrowth, Protruding tongue, Recurrent gastroenteritis, Skin vesicle, Deep philtrum, L... |
ORPHA:99843 |
| Immunodeficiency 95 |
|
Respiratory failure |
OMIM:619773 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Gastroesophageal reflux, Respiratory insufficiency, Thick vermilion border, Gingival overgrowth, ... |
OMIM:618186 |
| Mulibrey Nanism |
|
Wide nasal bridge, Depressed nasal bridge, Microglossia, Dental malocclusion, Dental crowding, As... |
OMIM:253250 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Ventilator dependenc... |
ORPHA:254875 |
| Peeling Skin Syndrome 6 |
|
Atopic dermatitis, Orthokeratosis, Dry skin, Parakeratosis, Scaling skin, Pruritus |
OMIM:618084 |
| Intermediate Nemaline Myopathy |
|
High, narrow palate, Dysphagia, Respiratory failure, Long philtrum |
ORPHA:171433 |
| Boutonneuse Fever |
|
Skin rash, Petechiae, Macule, Skin nodule, Maculopapular exanthema, Skin detachment, Respiratory ... |
ORPHA:83313 |
| Herpes Simplex Virus Stromal Keratitis |
|
Herpetiform vesicles |
ORPHA:137599 |
| Plummer-Vinson Syndrome |
|
Narrow mouth, Pallor, Intra-oral hyperpigmentation, Esophageal web, Dysphagia, Glossitis, Cheilit... |
ORPHA:54028 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Dysphagia, Respiratory failure, Respiratory insufficiency due to muscle weakness |
ORPHA:2590 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Vomiting, Diarrhea, Death in childhood, Death in adolescence, Dehydration |
OMIM:560000 |
| Autosomal Agammaglobulinemia |
|
Diarrhea, Skin rash, High palate, Recurrent skin infections, Dehydration |
ORPHA:33110 |
| Vacterl Association With Hydrocephalus |
|
Anal atresia, Stillbirth, Respiratory failure, Respiratory insufficiency |
OMIM:276950 |
| Ichthyosis With Erythrokeratoderma |
|
Erythema, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Palmoplan... |
OMIM:620507 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:610127 |
| Solar Urticaria |
|
Abnormal lip morphology, Angioedema, Abnormal tongue morphology, Periorbital edema, Edema |
ORPHA:97230 |
| Lattice Corneal Dystrophy Type I |
|
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... |
ORPHA:98964 |
| Beta-Ketothiolase Deficiency |
|
Diarrhea, Vomiting, Edema, Dehydration, Pallor, Oral aversion, Anorexia, Agitation |
ORPHA:134 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:619057 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Atypical scarring of skin, Gastroesophageal reflux, Carious teeth, Skin erosion, Nevus, Anal fiss... |
ORPHA:89842 |
| Vitamin B12-Responsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:28 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... |
OMIM:245400 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Dehydration, Anorexia |
ORPHA:79312 |
| Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Intractable diarrhea, Atrophic scars, Milia, Congenital pyloric atresia, Death in infancy, Esopha... |
OMIM:226730 |
| Netherton Syndrome |
|
Eczematoid dermatitis, Angioedema, Hypernatremic dehydration, Recurrent infection of the gastroin... |
OMIM:256500 |
| Cronkhite-Canada Syndrome |
|
Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Lymphedema, Furrowed tongue, Stomach ca... |
ORPHA:2930 |
| Methylmalonyl-Coa Epimerase Deficiency |
|
Gastroesophageal reflux, Dehydration |
OMIM:251120 |
| Lethal Acantholytic Erosive Disorder |
|
Acantholysis, Natal tooth, Respiratory failure, Cleft palate |
ORPHA:158687 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Depressed nasal bridge, Tooth malposition, Cataract, Furrowed tongue, Low posterior hairline, Sho... |
ORPHA:1387 |
| Netherton Syndrome |
|
Eczematoid dermatitis, Dry skin, Skin rash, Erythroderma, Dehydration |
ORPHA:634 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death |
OMIM:619334 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Respiratory failure, Death in infancy |
OMIM:616277 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Glossoptosis, Cleft palate |
ORPHA:3104 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
| Orofaciodigital Syndrome Xv |
|
Wide nasal bridge, Midline notch of upper alveolar ridge, Anteverted nares, Hydronephrosis, Lobul... |
OMIM:617127 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Death in childhood, Dehydration |
OMIM:214150 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Esophageal stricture, Atrophic scars, Milia, Abnormal esophagus morphology, Constipation, Dysphag... |
OMIM:226600 |
| Lymphatic Malformation 12 |
|
Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Neonatal death, Death in adolescence, Polyh... |
OMIM:620014 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Trichiasis, Sparse eyebrow, Keratitis, Oral leukoplakia, Furrowed tongue, Corneal scarring, Nail ... |
OMIM:148210 |
| Orofaciodigital Syndrome Xix |
|
Wide nasal bridge, Bifid nasal tip, Narrow palate, Carious teeth, Downturned corners of mouth, Un... |
OMIM:620107 |
| Snakebite Envenomation |
|
Gingival bleeding, Erythema, Localized skin lesion, Neuromuscular dysphagia, Pseudobulbar paralys... |
ORPHA:449285 |
| Familial Renal Glucosuria |
|
Dehydration |
ORPHA:69076 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
High palate, Respiratory failure, Respiratory insufficiency |
OMIM:615330 |
| Hypercalcemia, Infantile, 1 |
|
Vomiting, Dehydration |
OMIM:143880 |
| Corneal Dystrophy, Fuchs Endothelial, 2 |
|
Corneal guttata, Corneal degeneration, Corneal dystrophy, Edema |
OMIM:610158 |
| Auriculocondylar Syndrome 2A |
|
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man... |
OMIM:614669 |
| Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Vomiting, Dehydration |
OMIM:602722 |
| Pai Syndrome |
|
Bifid uvula, Depressed nasal bridge, Nasal polyposis, Midline defect of the nose, Median cleft up... |
ORPHA:1993 |
| Catel-Manzke Syndrome |
|
Highly arched eyebrow, Oral synechia, Glossoptosis, Cleft palate |
ORPHA:1388 |
| Auriculocondylar Syndrome 4 |
|
Glossoptosis, Narrow mouth, Cleft palate |
OMIM:620457 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
High, narrow palate, Preauricular skin tag, Abnormal lip morphology, Abnormal upper lip morpholog... |
ORPHA:2707 |
| Propionic Acidemia |
|
Vomiting, Eczematoid dermatitis, Dehydration, Constipation |
OMIM:606054 |
| Isovaleric Acidemia |
|
Vomiting, Dehydration |
OMIM:243500 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Dysphagia, Respiratory failure |
OMIM:616867 |
| Osteootohepatoenteric Syndrome |
|
Secretory diarrhea, Increased intestinal transit time, Villous atrophy, Ileoileal intussusception... |
OMIM:619377 |
| Deafness-Craniofacial Syndrome |
|
Wide nasal bridge, Abnormality of the dentition, Underdeveloped nasal alae, Short lingual frenulu... |
ORPHA:3241 |
| Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Bifid uvula, Nasal polyposis, Median cleft upper lip, High palate, Iris coloboma |
OMIM:155145 |
| Shigellosis |
|
Vomiting, Ulcerative colitis, Anorexia, Bloody diarrhea, Paralytic ileus, Peritonitis, Intestinal... |
ORPHA:810 |
| Tylosis With Esophageal Cancer |
|
Oral leukoplakia, Diffuse palmoplantar hyperkeratosis, Parakeratosis, Follicular hyperkeratosis, ... |
OMIM:148500 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate |
ORPHA:141152 |
| Whistling Face Syndrome, Recessive Form |
|
Whistling appearance, Microglossia, Underdeveloped nasal alae, Long philtrum, Prominent nasal bri... |
OMIM:277720 |
| Carnitine Deficiency, Systemic Primary |
|
Vomiting, Diarrhea, Dehydration |
OMIM:212140 |
| Cystinosis |
|
Polydipsia, Vomiting, Motor stereotypy, Dehydration |
ORPHA:213 |
| Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Diarrhea, Vomiting, Dehydration |
OMIM:264350 |
| Pearson Marrow-Pancreas Syndrome |
|
Erythema, Vomiting, Exocrine pancreatic insufficiency, Villous atrophy, Pallor, Death in childhoo... |
OMIM:557000 |
| Bazex-Dupre-Christol Syndrome |
|
Atopic dermatitis, Acne inversa, Eczematoid dermatitis, Nevus, Furrowed tongue, Milia |
OMIM:301845 |
| Alg1-Cdg |
|
Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Respiratory failure |
ORPHA:79327 |
| Alternating Hemiplegia Of Childhood |
|
Diarrhea, Vomiting, Oral-pharyngeal dysphagia, Pallor, Impulsivity, Gastrointestinal dysmotility,... |
ORPHA:2131 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy, Respiratory insufficiency due to muscle weakness |
OMIM:254300 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Erythema, Diarrhea, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysp... |
OMIM:147060 |
| Systemic Sclerosis |
|
Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref... |
ORPHA:90291 |
| Hartnup Disorder |
|
Glossitis, Elevated urinary indoleacetic acid level, Neutral hyperaminoaciduria |
OMIM:234500 |
| Burning Mouth Syndrome |
|
Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa... |
ORPHA:353253 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Respiratory failure, Abnormality of the philtrum, Aplasia/Hypoplasia of ... |
ORPHA:2759 |
| Pachyonychia Congenita 3 |
|
Palmoplantar keratoderma, Oral leukoplakia, Chapped lip, Furrowed tongue, Follicular hyperkeratos... |
OMIM:615726 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Pustule, Atopic dermatitis, Vomiting, Dehydration |
ORPHA:171876 |
| Olmsted Syndrome 1 |
|
Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Orthokeratosis, Hyperpa... |
OMIM:614594 |
| Hemifacial Atrophy, Progressive |
|
Dental malocclusion, Delayed eruption of teeth, Patchy alopecia, Tongue atrophy, Poliosis, Short ... |
OMIM:141300 |
| Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
| Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Vomiting, Dehydration |
OMIM:620126 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Oligohydramnios, Neonatal death, Esophageal varix, Hematemesis, Dehydration |
OMIM:263200 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Thin upper lip vermilion, ... |
OMIM:613443 |
| Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... |
OMIM:136800 |
| Toxic Epidermal Necrolysis |
|
Erythema, Gastrointestinal hemorrhage, Skin ulcer, Tracheoesophageal fistula, Macule, Acantholysi... |
ORPHA:537 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Macroglossia, Dysphagia, Respiratory failure |
OMIM:606612 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
| Glucose/Galactose Malabsorption |
|
Chronic diarrhea, Hypertonic dehydration |
OMIM:606824 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Wide nasal bridge, Bulbous nose, Anteverted nares, Open mouth, Thin upper lip vermilion, High pal... |
OMIM:613604 |
| Bazex Syndrome |
|
Yellow nails, Palmoplantar keratoderma, Lip hyperpigmentation, Nail dystrophy, Parakeratosis, Hyp... |
ORPHA:166113 |
| Ullrich Congenital Muscular Dystrophy |
|
Respiratory failure, Abnormal palate morphology |
ORPHA:75840 |
| Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Diarrhea, Vomiting, Dehydration |
OMIM:177735 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Gastroesophageal reflux, Dysphagia, Respiratory failure |
ORPHA:70472 |
| Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
| Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure |
OMIM:604801 |
| Corticosterone Methyloxidase Type I Deficiency |
|
Vomiting, Dehydration |
OMIM:203400 |
| 9q subtelomeric deletion syndrome |
|
Anteverted nares, Protruding tongue, Short nose, Synophrys |
DECIPHER:52 |
| Cholesteryl Ester Storage Disease |
|
Pruritus, Diarrhea, Esophageal varix |
ORPHA:75234 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Long philtrum |
OMIM:312170 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
Tongue fasciculations, Death in childhood, Death in infancy, Neonatal death, Stillbirth, Respirat... |
OMIM:614922 |
| Portal Hypertension, Noncirrhotic, 2 |
|
Ascites, Petechiae, Ecchymosis, Esophageal varix, Hepatocellular carcinoma |
OMIM:619463 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Abnormality of canine, Microglossia, Underdeveloped nasal alae, Thin eyebrow, Bulbous nose, Oligo... |
ORPHA:364577 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
| Hereditary Acrokeratotic Poikiloderma |
|
Gingival bleeding, Abnormality of the dentition, Erythema, Xerostomia, Oral leukoplakia, Eczemato... |
ORPHA:2907 |
| Scedosporiosis |
|
Abnormal jejunum morphology, Subcutaneous nodule, Unusual skin infection, Respiratory failure |
ORPHA:449280 |
| Kindler Epidermolysis Bullosa |
|
Erythema, Inflammation of the large intestine, Carious teeth, Periodontitis, Palmoplantar keratod... |
ORPHA:2908 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Abnormality of the dentition, Carious teeth, Anoperineal fistula, Palmoplantar keratoderma, Chapp... |
ORPHA:158668 |
| Pontocerebellar Hypoplasia Type 1 |
|
Tongue fasciculations, Respiratory failure |
ORPHA:2254 |
| Noonan Syndrome 7 |
|
Webbed neck, Abnormal esophagus morphology, Thick vermilion border, Dysphagia, Impaired oropharyn... |
OMIM:613706 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy, Dysphagia |
ORPHA:496689 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Localized skin lesion, Carious teeth, Atrophic scars, Milia, Oral mucosal blisters, Gastrointesti... |
ORPHA:79409 |
| Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Vomiting, Polydipsia, Hypertonic dehydration, Constipation |
OMIM:125800 |
| Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Vomiting, Polydipsia, Hypertonic dehydration, Constipation |
OMIM:304800 |
| Cholera |
|
Vomiting, Diarrhea, Palmoplantar cutis laxa, Achlorhydria, Dehydration, Miscarriage |
ORPHA:173 |
| 3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Diarrhea, Pallor, Death in childhood, Episodic vomiting, Dehydration |
OMIM:246450 |
| Stevens-Johnson Syndrome |
|
Erythema, Gastrointestinal hemorrhage, Macule, Acantholysis, Dysphagia, Esophageal stricture |
ORPHA:36426 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Short philtrum, Wide mouth, Respiratory failure, Death in infancy |
ORPHA:1194 |
| Lelis Syndrome |
|
Yellow nails, Carious teeth, Sparse lateral eyebrow, Furrowed tongue, Nail dystrophy, Hypodontia,... |
ORPHA:140936 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Dehydration |
ORPHA:27 |
| Kindler Syndrome |
|
Diffuse skin atrophy, Anal stenosis, Carious teeth, Periodontitis, Oral leukoplakia, Dermal atrop... |
OMIM:173650 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Dry skin, Death in infancy, Esophageal varix, Chronic diarrh... |
OMIM:614576 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Respiratory failure |
ORPHA:168486 |
| Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Widely spa... |
OMIM:257980 |
| Auriculocondylar Syndrome 1 |
|
Mandibular condyle aplasia, Preauricular skin tag, Dental malocclusion, Dental crowding, Narrow m... |
OMIM:602483 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Diarrhea, Vomiting, Dehydration, Bloody diarrhea, Rectal prolapse, Peritonitis, Colonic stenosis,... |
ORPHA:90038 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Dysphagia, Respiratory failure, Respiratory insufficiency due to muscle weakness |
ORPHA:352447 |
| Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure |
ORPHA:71211 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Dysphagia, Respiratory failure |
OMIM:613954 |
| Early-Onset Familial Hypoaldosteronism |
|
Vomiting, Dehydration |
ORPHA:556030 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Diarrhea, Edema, Pallor, Episodic vomiting, Anorexia, Dehydration |
ORPHA:20 |
| Glucose-Galactose Malabsorption |
|
Diarrhea, Vomiting, Osmotic diarrhea, Dehydration |
ORPHA:35710 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Narrow palate, Tented upper lip vermilion, Respiratory failure |
OMIM:616505 |
| Diarrhea 1, Secretory Chloride, Congenital |
|
Polyhydramnios, Secretory diarrhea, Dehydration, Elevated stool chloride content |
OMIM:214700 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Oligohydramnios, Dehydration, Death in infancy |
OMIM:208085 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Petechiae, Purpura, Respiratory failure |
OMIM:620296 |
| Mandibulofacial Dysostosis With Alopecia |
|
Wide nasal bridge, Alopecia, Dental crowding, Hydroureter, Delayed eruption of primary teeth, Spa... |
OMIM:616367 |
| Ring Chromosome 22 Syndrome |
|
Wide nasal base, Lymphedema, Bulbous nose, Thick eyebrow, Pleural effusion, Protruding tongue, Th... |
ORPHA:1446 |
| Leigh Syndrome, Nuclear |
|
Respiratory failure, Respiratory insufficiency |
OMIM:256000 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Neonatal death, Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:605711 |
| Lysosomal Acid Lipase Deficiency |
|
Diarrhea, Vomiting, Ascites, Xanthelasma, Xanthomatosis, Esophageal varix, Steatorrhea, Pruritus,... |
ORPHA:275761 |
| Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Vomiting, Diarrhea, Dehydration |
OMIM:251000 |
| Congenital Myopathy 10B, Mild Variant |
|
High palate, Dysphagia, Respiratory failure, Cleft palate |
OMIM:620249 |
| Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Neonatal respiratory distress, Downturned corners of mouth, Achalasia, Hyperkeratosis, Short phil... |
OMIM:615510 |
| Malignant Atrophic Papulosis |
|
Gastrointestinal hemorrhage, Intestinal fistula, Gastrointestinal infarctions, Dermal atrophy, Pa... |
ORPHA:679 |
| Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Alopecia, Coarse hair, Erythematous oral mucosa, Furrowed tongue, Opacification of the ... |
OMIM:158310 |
| Pallister-Hall-Like Syndrome |
|
Depressed nasal bridge, Microglossia, Death in infancy, Median cleft upper lip, Short nose, Micro... |
OMIM:241800 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:614299 |
| Agel Amyloidosis |
|
Cataract, Xerostomia, Blepharochalasis, Stage 5 chronic kidney disease, Nail dystrophy, Proteinur... |
ORPHA:85448 |
| Auriculocondylar Syndrome |
|
Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal... |
ORPHA:137888 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
High palate, Respiratory failure |
ORPHA:98913 |
| Sandestig-Stefanova Syndrome |
|
High palate, Orofacial cleft, Respiratory failure |
OMIM:618804 |
| Clark-Baraitser syndrome |
|
Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Anteverted nares, P... |
OMIM:300602 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Abnormal sweat gland morphology, Alopecia, Predominantly lower limb lymphedema, Abnormality of th... |
OMIM:607823 |
| Corticosterone Methyloxidase Type Ii Deficiency |
|
Dehydration |
OMIM:610600 |
| Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Bifid uvula, Absent cupid's bow, Crossed fused renal ectopia, Cleft soft pal... |
ORPHA:2919 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Gastroesophageal reflux, Skin tags, Redundant skin, Neonatal death, Palmoplantar cutis laxa, Resp... |
OMIM:616482 |
| Melkersson-Rosenthal Syndrome |
|
Oligosacchariduria, Furrowed tongue, Periorbital edema, Macroglossia, Cheilitis, Edema |
ORPHA:2483 |
| Glycogen Storage Disease Iv |
|
Ascites, Esophageal varix, Polyhydramnios, Hydrops fetalis, Edema |
OMIM:232500 |
| Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Depressed nasal bridge, High anterior hairline, Cataract, Horizontal eyebrow, Anteverted nares, T... |
OMIM:618797 |
| Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
| Naxos Disease |
|
Subungual hyperkeratosis, Palmoplantar keratoderma, Diffuse palmoplantar hyperkeratosis, Acanthol... |
OMIM:601214 |
| Hypomandibular Faciocranial Dysostosis |
|
Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Narrow mouth, Death in infancy, ... |
ORPHA:1790 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Long philtrum, Cleft palate |
ORPHA:166100 |
| Ramos-Arroyo Syndrome |
|
Depressed nasal bridge, High anterior hairline, Carious teeth, Xerostomia, Smooth tongue, Long ph... |
ORPHA:1051 |
| Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de... |
OMIM:619859 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Vomiting, Dehydration |
OMIM:615453 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Everted lower lip vermilion, High palate, Pierre-Robin sequence... |
OMIM:608670 |
| Aplasia Cutis Congenita |
|
Erythema, Skin ulcer, Aplasia cutis congenita, Aplasia cutis congenita over the scalp vertex, Con... |
ORPHA:1114 |
| Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Chronic oral candidiasis, Respiratory failure... |
ORPHA:723 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... |
ORPHA:98974 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy, Dysphagia |
ORPHA:216873 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Neonatal respiratory distress, Glossoptosis, Cleft palate, Respiratory insufficiency |
OMIM:618356 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Skin erosion, Vomiting, Edema, Esophageal stricture, Pyoderma, Constipation, Aplasia cutis congen... |
ORPHA:79404 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Abnormality of the sense of smell, Low anterior... |
ORPHA:3201 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy |
OMIM:610678 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Palmoplantar keratoderma, Atrophic scars, Milia, Oral mucosal blisters, Scarring alopecia of scal... |
ORPHA:79402 |
| Marshall-Smith Syndrome |
|
Choanal atresia, Anteverted nares, Gingival overgrowth, Open mouth, Protruding tongue, Generalize... |
ORPHA:561 |
| Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... |
OMIM:608647 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Bifid nasal tip, Sparse eyebrow, Hypospadias, Ankyloglossia, Alopecia of scalp, Sparse eyelashes,... |
OMIM:618874 |
| Pontocerebellar Hypoplasia, Type 1B |
|
Tongue fasciculations, Tongue atrophy, Respiratory insufficiency |
OMIM:614678 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Sacral dimple, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
| Vipoma |
|
Erythema, Secretory diarrhea, Abnormal gastrointestinal motility, Ascites, Neoplasm of the liver,... |
ORPHA:97282 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory insufficiency, Respiratory failure, Widely spaced teeth |
OMIM:135100 |
| Lymphangiectasia, Pulmonary, Congenital |
|
Facial edema, Wide nasal bridge, Depressed nasal bridge, Chylothorax, Edema, Lymphedema, Ascites,... |
OMIM:265300 |
| Bronchogenic Cyst |
|
Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia |
ORPHA:2357 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Cataract, Microcornea, Furrowed tongue, Anteverted nares, Tented upper lip vermilion, Hydronephro... |
OMIM:616449 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure |
ORPHA:363400 |
| Peutz-Jeghers Syndrome |
|
Nasal polyposis, Abnormality of the nose, Neoplasm of the colon, Neoplasm of the nose, Stomach ca... |
ORPHA:2869 |
| Oculogastrointestinal Muscular Dystrophy |
|
Intestinal pseudo-obstruction, Gastroparesis, Abnormal gastric mucosa morphology, Abnormality of ... |
ORPHA:1876 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Microglossia, Aplasia/Hypoplasia involving the nose, Narrow mouth, Absent nares, Aplasia/Hypoplas... |
ORPHA:990 |
| Arterial Tortuosity Syndrome |
|
Gastroesophageal reflux, Cardiorespiratory arrest, Thin skin, Esophagitis, Median cleft palate, R... |
ORPHA:3342 |
| Wolcott-Rallison Syndrome |
|
Ascites, Exocrine pancreatic insufficiency, Dehydration |
ORPHA:1667 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Pallor, Respiratory failure |
ORPHA:3226 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Smooth philtrum, Open mouth, Protruding tongue, Downturned corners of mouth |
OMIM:618732 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Dysphagia, Respiratory failure |
OMIM:618233 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure |
OMIM:619483 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Furrowed tongue, Skin tags, Narrow mouth, Palmoplantar hyperkeratosis, High ... |
OMIM:615108 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue |
ORPHA:2743 |
| Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy, Dysphagia |
OMIM:158900 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Respiratory failure, Death in childhood |
OMIM:615838 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Difficulty in tongue movements, Respiratory insufficiency, Respiratory insufficiency due to muscl... |
ORPHA:308552 |
| Wolman Disease |
|
Steatorrhea, Ascites, Esophageal varix |
ORPHA:75233 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix |
OMIM:618955 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Preauricular skin tag, Webbed neck, Preauricular pit, Submucous cleft hard palate, Tracheoesophag... |
OMIM:619227 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Atypical scarring of skin, Inflammatory abnormality of the skin, Xerostomia, Skin ulcer, Oral-pha... |
ORPHA:95455 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Neonatal death, Tracheoesophageal fistula, Esophageal atresia, Polyhydramnios, Anal atresia, Sacr... |
OMIM:314390 |
| Spinocerebellar Ataxia Type 1 |
|
Dysphagia, Respiratory failure |
ORPHA:98755 |
| Proximal Spinal Muscular Atrophy |
|
Tongue fasciculations, Neonatal respiratory distress, Gastroesophageal reflux, Intercostal muscle... |
ORPHA:70 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Gastroesophageal reflux, Vomiting, Abnormal gastrointestinal tract morphology, Esophageal neoplas... |
ORPHA:1018 |
| Agnathia-Otocephaly Complex |
|
Microglossia, Aglossia, Narrow mouth, Polyhydramnios, Cleft palate, Wide nose |
OMIM:202650 |
| Tarp Syndrome |
|
Wide nasal bridge, Meckel diverticulum, Horseshoe kidney, Anteverted nares, Oligohydramnios, Neon... |
OMIM:311900 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death |
OMIM:265120 |
| Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Abnormal tongue morphology, Narrow nose, High palate, Sparse hair, Hyp... |
ORPHA:2457 |
| Dend Syndrome |
|
Vomiting, Dehydration |
ORPHA:79134 |
| Amyotrophic Lateral Sclerosis |
|
Tongue atrophy, Respiratory failure, Xerostomia, Dysphagia |
ORPHA:803 |
| Aspergillosis |
|
Localized skin lesion, Abnormal esophagus morphology, Pleural effusion |
ORPHA:1163 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Dysphagia, Respiratory failure |
OMIM:620166 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory failure |
OMIM:263000 |
| Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
| Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, D... |
OMIM:607625 |
| Acquired Hypertrichosis Lanuginosa |
|
Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Glossitis, Macroglossia, Hypopigme... |
ORPHA:2221 |
| Orofaciodigital Syndrome Iii |
|
Bifid uvula, Bulbous nose, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules |
OMIM:258850 |
| Renal Hypoplasia |
|
Polydipsia, Dehydration |
ORPHA:93101 |
| Nephrogenic Diabetes Insipidus |
|
Polydipsia, Hypernatremic dehydration, Constipation, Anorexia, Polyhydramnios |
ORPHA:223 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Ventilator dependence with inability to wean, Respiratory failure |
OMIM:604320 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Polyhydramnios, Dehydration |
OMIM:616271 |
| Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Ascites, Gastric varix, Pruritus, Esophageal varix, Hepatocellular c... |
ORPHA:64743 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Respiratory failure |
OMIM:250940 |
| Seckel Syndrome 2 |
|
Microglossia, Prominent nose, Microdontia, Ectopic kidney, Hypospadias |
OMIM:606744 |
| Coffin-Siris Syndrome 11 |
|
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid... |
OMIM:618779 |
| Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Furrowed tongue, Skin tags, Narrow mouth, Palmoplantar hyperkeratosis, High ... |
OMIM:615109 |
| Carey-Fineman-Ziter Syndrome |
|
Long philtrum, Aplasia/Hypoplasia of the tongue, Glandular hypospadias, Anteverted nares, Hydrone... |
ORPHA:1358 |
| Acrodermatitis Enteropathica |
|
Erythema, Skin ulcer, Furrowed tongue, Dry skin, Pustule, Abnormality of the tongue, Glossitis, C... |
ORPHA:37 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Respiratory insufficiency, Death in infancy, High palate, Narrow p... |
OMIM:608836 |
| Trisomy 8Q |
|
Wide nasal bridge, Hypoplasia of penis, Displacement of the urethral meatus, Abnormal oral frenul... |
ORPHA:1752 |
| Idiopathic Pulmonary Hemosiderosis |
|
Pallor, Respiratory failure |
ORPHA:99931 |
| Holzgreve Syndrome |
|
Webbed neck, Aplasia/Hypoplasia of the tongue, Oligohydramnios, Bifid tongue, Cleft palate |
ORPHA:2167 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Respiratory failure |
OMIM:620326 |
| Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration |
OMIM:143860 |
| Adams-Oliver Syndrome 6 |
|
Aplasia cutis congenita of scalp, Esophageal varix |
OMIM:616589 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
High palate, Tented upper lip vermilion, Respiratory failure |
ORPHA:98905 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Skin erosion, Respiratory failure, Death in childhood |
OMIM:617186 |
| Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue fasciculations, Tongue atrophy, Respiratory insufficiency |
OMIM:620285 |
| Pyruvate Carboxylase Deficiency |
|
Abnormal temper tantrums, Vomiting, Recurrent hand flapping, Anorexia, Compulsive behaviors, Dehy... |
ORPHA:3008 |
| Arthrogryposis, Distal, Type 5D |
|
Highly arched eyebrow, Bulbous nose, Anteverted nares, Furrowed tongue, Open mouth, Narrow mouth,... |
OMIM:615065 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Dysphagia, Respiratory failure, Death in childhood |
OMIM:619847 |
| Faciocardiomelic Dysplasia, Lethal |
|
Microglossia, Narrow mouth, Neonatal death |
OMIM:227270 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Gastroesophageal reflux, Respiratory insufficiency, Open mouth, Protruding tongue, Intercostal mu... |
ORPHA:258 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Open mouth, Exaggerated cupid's bow, Redundant neck skin, Macroglossia, Respiratory failure |
ORPHA:254528 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure, Long philtrum |
OMIM:617895 |
| Microsporidiosis |
|
Vomiting, Intermittent diarrhea, Peritonitis, Anorexia, Skin nodule, Nausea, Glossitis, Chronic d... |
ORPHA:2552 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
High palate, Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle wea... |
OMIM:220110 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Wide nasal bridge, Depressed nasal bridge, Webbed neck, Cleft lip, Dental malocclusion, Downturne... |
OMIM:616894 |
| Cystic Fibrosis |
|
Diarrhea, Exocrine pancreatic insufficiency, Ileus, Rectal prolapse, Steatorrhea, Meconium ileus,... |
OMIM:219700 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Protein-losing enteropathy, Alopecia, Cataract, Xerostomia, Nail dystrophy, Glossitis, Hamartomat... |
OMIM:175500 |
| Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Intestinal obstruction, Perit... |
ORPHA:131 |
| Immunodeficiency 12 |
|
Recurrent aphthous stomatitis, Skin rash, Death in adolescence, Cheilitis, Esophageal stricture |
OMIM:615468 |
| Adrenal Hypoplasia, Congenital |
|
Dehydration |
OMIM:300200 |
| Barrett Esophagus |
|
Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration |
OMIM:614266 |
| Methylmalonic Aciduria, Cblb Type |
|
Vomiting, Dehydration |
OMIM:251110 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Cleft palate, Pierre-Robin sequence |
OMIM:620269 |
| Neuroleptic Malignant Syndrome |
|
Vomiting, Dehydration, Nausea, Dysphagia, Agitation |
ORPHA:94093 |
| Hartnup Disease |
|
Gingivitis, Glossitis, Skin rash, Hypopigmented skin patches |
ORPHA:2116 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in childhood, Death in infancy, High palate, Dysphagia, Respiratory failure |
OMIM:620278 |
| Multiple Endocrine Neoplasia Type 1 |
|
Peptic ulcer, Gastroesophageal reflux, Diarrhea, Vomiting, Anorexia, Confetti-like hypopigmented ... |
ORPHA:652 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tooth agenesis, Breast aplasia, Open mouth, Abnormality of the ... |
ORPHA:570 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Self-injurious behavior, Atypical scarring of skin, Gastroesophageal reflux, Skin ulcer, Joint sw... |
ORPHA:534 |
| Orofaciodigital Syndrome Ii |
|
Depressed nasal bridge, Bifid nasal tip, Broad nasal tip, Lobulated tongue, Agenesis of central i... |
OMIM:252100 |
| Marburg Hemorrhagic Fever |
|
Diarrhea, Vomiting, Bloody diarrhea, Petechiae, Skin rash, Aggressive behavior, Abnormality of th... |
ORPHA:99826 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure |
OMIM:603689 |
| Methylmalonic Aciduria, Cbla Type |
|
Vomiting, Dehydration |
OMIM:251100 |
| Congenital Sialidosis Type 2 |
|
Cataract, Ascites, Gingival overgrowth, Protruding tongue, Corneal opacity, Developmental catarac... |
ORPHA:93400 |
| Dopamine Beta-Hydroxylase Deficiency |
|
Vomiting, Diarrhea, Dehydration |
ORPHA:230 |
| Raine Syndrome |
|
Depressed nasal bridge, Highly arched eyebrow, Choanal atresia, Natal tooth, Hydroureter, Wide mo... |
OMIM:259775 |
| Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
| Pearson Syndrome |
|
Exocrine pancreatic insufficiency, Median cleft palate, Chronic diarrhea, Corneal stromal edema, ... |
ORPHA:699 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... |
OMIM:122000 |
| Cowden Syndrome 1 |
|
Colonic diverticula, Furrowed tongue, Skin tags, Narrow mouth, Acrokeratosis, Palmoplantar hyperk... |
OMIM:158350 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence |
OMIM:192445 |
| Bloom Syndrome |
|
Gastroesophageal reflux, Neoplasm of the colon, Stomach cancer, Skin rash, Esophageal neoplasm, R... |
ORPHA:125 |
| Infantile Nephropathic Cystinosis |
|
Vomiting, Polydipsia, Dehydration, Constipation |
ORPHA:411629 |
| X-Linked Agammaglobulinemia |
|
Hypopigmented skin patches, Skin ulcer, Skin rash, Glossoptosis, Recurrent cutaneous abscess form... |
ORPHA:47 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
| Septo-Optic Dysplasia Spectrum |
|
Polydipsia, Dry skin, Tracheoesophageal fistula, Esophageal atresia, Constipation, Cleft palate |
ORPHA:3157 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Atopic dermatitis, Respiratory failure |
ORPHA:3240 |
| Orofaciodigital Syndrome V |
|
Bifid uvula, Hamartoma of tongue, Ankyloglossia, Horseshoe kidney, Thin upper lip vermilion, Medi... |
OMIM:174300 |
| Primary Ciliary Dyskinesia |
|
Intestinal malrotation, Neonatal respiratory distress, Respiratory failure |
ORPHA:244 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of the dentition, Respiratory failure, Hepatocellular carcinoma |
ORPHA:88618 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Downturned corners of mouth, Wide nasal ridge, Abnormal tongue morphology |
ORPHA:531151 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Renal cyst, Cleft palate, Lobulated tongue |
OMIM:614815 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Depressed nasal bridge, Thin skin, Thin eyebrow, Upper eyelid edema, Open mouth, Protruding tongu... |
OMIM:617804 |
| Autosomal Recessive Robinow Syndrome |
|
Multicystic kidney dysplasia, Open bite, Ankyloglossia, Short nose, Alopecia, Downturned corners ... |
ORPHA:1507 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Erythema, Palmoplantar keratoderma, Smooth tongue, Atrophic scars, Milia, Oral mucosal blisters, ... |
ORPHA:79396 |
| Distal Limb Deficiencies-Micrognathia Syndrome |
|
Renal hypoplasia, Microglossia, Prominent nasal bridge, Narrow mouth, Renal insufficiency, Microd... |
ORPHA:1307 |
| Orofaciodigital Syndrome I |
|
Dry hair, Carious teeth, Ankyloglossia, High palate, Sparse hair, Polycystic kidney dysplasia, Al... |
OMIM:311200 |
| Oligomeganephronia |
|
Polydipsia, Dehydration |
ORPHA:2260 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
High, narrow palate, Hypospadias, Sparse eyebrow, Microcornea, Male urethral meatus stenosis, Fur... |
ORPHA:464738 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Long philtrum, Diastema, Macrodontia, Long eyelashes, Thick eyebrow, Prominent nasal bridge, Open... |
OMIM:212066 |
| Colchicine Poisoning |
|
Nausea, Vomiting, Diarrhea, Dehydration |
ORPHA:31824 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Vomiting, Dehydration |
ORPHA:90791 |
| Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Open bite, Brittle hair, High palate, Sparse hair, Accessory oral f... |
ORPHA:2750 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
| Tooth Agenesis, Selective, 4 |
|
Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Peg-shaped maxillary lat... |
OMIM:150400 |
| Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Abnormality of the dentition, Oral leukoplakia, Esophageal stenosis |
OMIM:616553 |
| Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Wide nasal bridge, Broad nasal tip, Dental crowding, Protruding tongue, Submucous cleft hard pala... |
OMIM:618106 |
| Lymphatic Malformation 7 |
|
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... |
OMIM:617300 |
| Severe Congenital Nemaline Myopathy |
|
Dysphagia, Respiratory failure |
ORPHA:171430 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
| Orofaciodigital Syndrome Type 3 |
|
Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Bulbous nose, Stage 5 chronic kid... |
ORPHA:2752 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Bifid uvula, Anteverted nares, Protruding tongue, Death in childhood, Alveolar ridge overgrowth, ... |
OMIM:612938 |
| Infantile Krabbe Disease |
|
Hypopigmented skin patches, Gastroesophageal reflux, Respiratory failure |
ORPHA:206436 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Wide nasal bridge, Long philtrum, Anteverted nares, Narrow mouth, Renal insufficiency, Thin upper... |
OMIM:611209 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Underdeveloped nasal alae, Anteverted nares, Renal cyst, Glossoptos... |
ORPHA:2031 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Bifid uvula, Ankyloglossia, Cleft palate |
OMIM:303400 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Skin rash, Respiratory failure |
ORPHA:542323 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Furrowed tongue |
ORPHA:2928 |
| Gracile Bone Dysplasia |
|
Ascites, Ankyloglossia, Aniridia, Death in infancy, Micropenis |
OMIM:602361 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue fasciculations, Respiratory insufficiency, Death in childhood, Dysphagia, Tongue atrophy, ... |
OMIM:211530 |
| Hypoglossia With Situs Inversus |
|
Hypodontia, High palate, Microglossia, Narrow mouth |
OMIM:612776 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Wide nasal bridge, Prominent eyelashes, Long philtrum, Prominent nasal bridge, Gingival overgrowt... |
OMIM:619179 |
| Methimazole Embryofetopathy |
|
Polyhydramnios, Tracheoesophageal fistula, Esophageal atresia |
ORPHA:1923 |
| Distal Renal Tubular Acidosis |
|
Vomiting, Diarrhea, Polydipsia, Constipation, Dehydration |
ORPHA:18 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory insufficiency due ... |
OMIM:615512 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Downturned corners of mouth, Widely spaced teeth, Gingival overgrowth, Narrow mouth, Death in inf... |
OMIM:300868 |
| Otospondylomegaepiphyseal Dysplasia |
|
Depressed nasal bridge, Bifid uvula, Anteverted nares, Polyhydramnios, Glossoptosis, Cleft palate |
ORPHA:1427 |
| Treacher-Collins Syndrome |
|
Abnormal hair morphology, Open bite, Narrow mouth, Absent eyelashes, High palate, Rectovaginal fi... |
ORPHA:861 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Respiratory failure requiring assisted ventilation, Dysphagia, Respiratory failure, Widely spaced... |
ORPHA:496641 |
| Acrocallosal Syndrome |
|
Everted upper lip vermilion, Open mouth, Narrow mouth, Protruding tongue, Alveolar process hypopl... |
OMIM:200990 |
| Hallermann-Streiff Syndrome |
|
High, narrow palate, Choanal atresia, Alopecia, Sparse eyebrow, Natal tooth, Abnormality of the d... |
ORPHA:2108 |
| Auriculocondylar Syndrome 3 |
|
Bifid uvula, Glossoptosis |
OMIM:615706 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Hypospadias, Underdeveloped nasal alae, Abnormal columella morphology, Gloss... |
ORPHA:436003 |
| Mhc Class I Deficiency 1 |
|
Nasal polyposis, Ectopia lentis |
OMIM:604571 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Esophageal varix |
OMIM:617341 |
| Cohen Syndrome |
|
High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes... |
ORPHA:193 |
| Tetraamelia Syndrome 2 |
|
Absent nipple, Ankyloglossia, Bilateral cleft lip, Micropenis, Glossoptosis, Cleft palate |
OMIM:618021 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Ascites, Aplasia/Hypoplasia of the skin, Aplasia cutis congenita, Es... |
ORPHA:974 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Cardiorespiratory arrest, Dysphagia, Respiratory failure |
ORPHA:26791 |
| Caroli Disease |
|
Vomiting, Ascites, Cholangiocarcinoma, Anorexia, Nausea, Pruritus, Esophageal varix |
ORPHA:53035 |
| Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Ascites, Polyhydramnios, Esophageal varix, Nonimmune hydrops fetalis |
ORPHA:367 |
| Developmental And Epileptic Encephalopathy 80 |
|
Wide nasal bridge, Increased urine alpha-ketoglutarate concentration, Long philtrum, Tented upper... |
OMIM:618580 |
| Rabson-Mendenhall Syndrome |
|
Abnormality of the dentition, Nephrocalcinosis, Long penis, Dental crowding, Hypertrichosis, Prem... |
ORPHA:769 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Sparse eyebrow, Cleft lip, Natal tooth, Renal hypoplasia, Hamartoma of tongue, Prominent nose, Re... |
OMIM:616300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Recurrent upper respiratory tract infections, Diastema, Furrowed tongue, Thick eyebrow, Prominent... |
OMIM:300534 |
| Infant Acute Respiratory Distress Syndrome |
|
Respiratory failure |
ORPHA:70587 |
| Stuve-Wiedemann Syndrome 1 |
|
Wide nasal base, Carious teeth, Smooth tongue, Pursed lips, Anteverted nares, Oligohydramnios, Op... |
OMIM:601559 |
| Cowden Syndrome |
|
Palmoplantar keratoderma, Hypopigmented skin patches, Generalized hyperkeratosis, Furrowed tongue... |
ORPHA:201 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
| Muscular Dystrophy, Duchenne Type |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:310200 |
| Avian Influenza |
|
Respiratory failure, Miscarriage |
ORPHA:454836 |
| Cleidocranial Dysplasia |
|
High, narrow palate, Depressed nasal bridge, Abnormality of the dentition, Carious teeth, Dystrop... |
ORPHA:1452 |
| Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Glossitis, Hydrops fetalis, Stomatitis, Dehydration |
ORPHA:79282 |
| Orofaciodigital Syndrome Iv |
|
Hamartoma of tongue, Accessory oral frenulum, High palate, Tongue nodules, Cleft palate, Lobulate... |
OMIM:258860 |
| Ciliary Dyskinesia, Primary, 42 |
|
Nasal polyposis, Recurrent sinusitis, Chronic rhinitis |
OMIM:618695 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
| Vernal Keratoconjunctivitis |
|
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... |
ORPHA:70476 |
| Adams-Oliver Syndrome 5 |
|
Cutis marmorata telangiectatica congenita, Aplasia cutis congenita, Esophageal varix |
OMIM:616028 |
| Achondrogenesis, Type Ia |
|
Depressed nasal bridge, Hypoplastic nasal bridge, Anteverted nares, Increased nuchal translucency... |
OMIM:200600 |
| Poliomyelitis |
|
Paralytic ileus, Dysphagia, Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:2912 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Carious teeth, Oral leukoplakia, Microdontia, Palmoplantar hyperkeratosis, Esophageal stricture |
OMIM:224230 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Gastroparesis, Spontaneous esophageal perforation |
OMIM:277320 |
| Adult Acute Respiratory Distress Syndrome |
|
Respiratory failure |
ORPHA:70578 |
| Acute Lung Injury |
|
Respiratory failure |
ORPHA:178320 |
| Okamoto Syndrome |
|
Facial hypertrichosis, Exaggerated median tongue furrow, Open bite, Extension of hair growth on t... |
ORPHA:2729 |
| Down Syndrome |
|
Depressed nasal bridge, Depressed nasal ridge, Narrow palate, Abnormality of the dentition, Downt... |
ORPHA:870 |
| Hypoglossia-Hypodactyly Syndrome |
|
Wide nasal bridge, Aplasia/Hypoplasia of the tongue, Narrow mouth, Death in infancy, Jejunal atre... |
ORPHA:989 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Ankyloglossia, Cleft soft palate, Everted lower lip vermilion, Long nose, High palate, U-Shaped u... |
OMIM:620450 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Respiratory failure |
ORPHA:444013 |
| Robinow Syndrome |
|
Flared nostrils, Tooth malposition, Multicystic kidney dysplasia, Ankyloglossia, Marked delay in ... |
ORPHA:97360 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Protruding tongue, Macroglossia, Short nose |
OMIM:242860 |
| Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Inflammation of the large intestine, Oral leukoplakia, Petechiae, Pancolitis, Esophageal stricture |
OMIM:620133 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal respiratory distress, Respiratory failure, Death in infancy, Neonatal death |
OMIM:610921 |
| Brain-Lung-Thyroid Syndrome |
|
Hypodontia, Neonatal respiratory distress, Webbed neck, Respiratory failure |
ORPHA:209905 |
| Hypomandibular Faciocranial Dysostosis |
|
Aglossia, Choanal stenosis, Pursed lips |
OMIM:241310 |
| Fraser Syndrome 2 |
|
Intestinal malrotation, Narrow mouth, Rectal atresia, Anal atresia, Respiratory failure |
OMIM:617666 |
| Kleefstra Syndrome 1 |
|
Natal tooth, Anteverted nares, Persistence of primary teeth, Protruding tongue, Everted lower lip... |
OMIM:610253 |
| Developmental And Speech Delay Due To Sox5 Deficiency |
|
Dental crowding, Narrow palate, Gastroesophageal reflux, Exaggerated median tongue furrow |
ORPHA:313892 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Wide nasal bridge, Bifid uvula, Downturned corners of mouth, Underdeveloped nasal alae, Furrowed ... |
ORPHA:453499 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Thick |
