Epidermolysis Bullosa Simplex 1D, Generalized, Intermediate Or Severe, Autosomal Recessive |
|
Ridged nail, Onychogryposis, Oral mucosal blisters |
OMIM:601001 |
Blistering, Acantholytic, Of Oral And Laryngeal Mucosa |
|
Erosion of oral mucosa, Oral mucosal blisters |
OMIM:619226 |
Hereditary Gingival Fibromatosis |
|
Gingival fibromatosis, Gingival overgrowth |
ORPHA:2024 |
Book Syndrome |
|
Premature graying of hair, Hypodontia |
OMIM:112300 |
Tongue, Pigmented Fungiform Papillae Of |
|
Abnormality of the tongue |
OMIM:275250 |
Periodontitis, Aggressive, 1 |
|
Premature loss of teeth, Severe periodontitis, Gingival recession |
OMIM:170650 |
White Sponge Nevus 1 |
|
Oral leukoplakia |
OMIM:193900 |
Pachyonychia Congenita 1 |
|
Nail dystrophy, Oral leukoplakia, Onychogryposis |
OMIM:167200 |
Acatalasemia |
|
Oral ulcer |
OMIM:614097 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Abnormality of skin pigmentation, Nail dystrophy, Oral leukoplakia, Squamous cell carcinoma of th... |
OMIM:613988 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Dyskeratosis, Hereditary Benign Intraepithelial |
|
Oral leukoplakia |
OMIM:127600 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Oral leukoplakia |
OMIM:615735 |
Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
Pachyonychia Congenita 2 |
|
Natal tooth, Sparse scalp hair, Subungual hyperkeratosis, Dry hair, Angular cheilitis, Sparse eye... |
OMIM:167210 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Carious teeth, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Premature... |
OMIM:616353 |
Tylosis With Esophageal Cancer |
|
Esophageal carcinoma, Oral leukoplakia |
OMIM:148500 |
Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate |
OMIM:261800 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Glossoptosis, Pierre-Robin sequence, Hyperconvex nail, Cleft palate |
OMIM:311895 |
Periodontal Ehlers-Danlos Syndrome |
|
Hypermelanotic macule, Premature loss of primary teeth, Gingival overgrowth, Agenesis of permanen... |
ORPHA:75392 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin... |
ORPHA:2222 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate |
ORPHA:718 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Intrauterine growth retardation, Esophageal stenosis, Oral leukoplakia, Abnormality of the dentition |
OMIM:616553 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6 |
|
Premature graying of hair, Nail dystrophy, Oral leukoplakia, Reticular hyperpigmentation |
OMIM:619767 |
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
Pachyonychia Congenita 3 |
|
Chapped lip, Onychogryposis of toenails, Gingivitis, Furrowed tongue, Nail dystrophy, Oral leukop... |
OMIM:615726 |
Polyposis of gastric fundus without polyposis coli |
|
Abnormal gastric mucosa morphology, Multiple gastric polyps |
OMIM:175505 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Abnormality of skin pigmentation, Cataract |
OMIM:300719 |
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Melanoc... |
ORPHA:1008 |
Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Reticulated skin pigmentation, Nail dystrophy, Oral leukoplakia |
OMIM:613987 |
Pachyonychia Congenita |
|
Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail dysp... |
ORPHA:2309 |
Tietz Syndrome |
|
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... |
ORPHA:42665 |
Bone Marrow Failure Syndrome 5 |
|
Growth delay, Short stature, Oral leukoplakia |
OMIM:618165 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Furrowed tongue, Nail dystrophy,... |
OMIM:148210 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Sparse eyelashes, Carious teeth, Esophageal stricture, Pterygium of nails, Ret... |
OMIM:224230 |
Autoinflammatory Disease, Familial, Behcet-Like 3 |
|
Ileitis, Oral ulcer |
OMIM:618287 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Abnormality of the dentition, Reticulated skin pigmentation, Esophageal stricture, Premature gray... |
OMIM:613989 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro... |
ORPHA:2026 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Abnormal oral cavity morphology, Narrow ... |
ORPHA:1355 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Dyskeratosis Congenita, Autosomal Recessive 8 |
|
Sparse scalp hair, Esophageal stricture, Pancolitis, Inflammation of the large intestine, Nail dy... |
OMIM:620133 |
Cleft Palate-Lateral Synechia Syndrome |
|
Oral synechia, Everted lower lip vermilion, Cleft palate, Narrow mouth |
ORPHA:2016 |
Hereditary Acrokeratotic Poikiloderma |
|
Premature loss of primary teeth, Abnormality of the dentition, Open bite, Xerostomia, Hypopigment... |
ORPHA:2907 |
Cleft Palate, Isolated |
|
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate |
OMIM:119540 |
Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads |
|
Angular cheilitis, Cheilitis, Leukonychia, Onycholysis, Oral leukoplakia |
OMIM:616295 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... |
OMIM:141300 |
Revesz Syndrome |
|
Nail pits, Fine hair, Nail dystrophy, Sparse hair, Fine, reticulate skin pigmentation, Oral leuko... |
OMIM:268130 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Carious teeth, Nail pits, Reticular hyperpigmentation, Premature graying o... |
OMIM:127550 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
Focal Palmoplantar And Gingival Keratoderma |
|
Subungual hyperkeratosis, Abnormal fingernail morphology, Gingival overgrowth, Gingival hyperkera... |
ORPHA:2200 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa |
|
Erosion of oral mucosa, Recurrent loss of toenails and fingernails, Oral mucosal blisters, Nail d... |
ORPHA:231568 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv... |
ORPHA:2025 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Reticulated skin pigmentation, Fine hair, Premature graying of hair, Nail dysplasia, Or... |
OMIM:613990 |
Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
Hartnup Disorder |
|
Glossitis, Short stature |
OMIM:234500 |
Dyskeratosis Congenita, Digenic |
|
Alopecia, Sparse eyelashes, Abnormality of the dentition, Abnormality of skin pigmentation, Nail ... |
OMIM:620040 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Esophageal stenosis, Abnormal fingernail morphology, Hyper... |
ORPHA:1775 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:613265 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Iri... |
OMIM:601706 |
Kindler Syndrome |
|
Ridged nail, Anal stenosis, Esophageal stenosis, Carious teeth, Spotty hypopigmentation, Gingivit... |
OMIM:173650 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Glossoptosis, Cataract |
OMIM:614876 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue |
OMIM:618732 |
Oculogastrointestinal Muscular Dystrophy |
|
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... |
ORPHA:1876 |
Catel-Manzke Syndrome |
|
Glossoptosis, Oral synechia, Short stature, Cleft palate |
ORPHA:1388 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Spontaneous esophageal perforation, Cataract, Oral mucosal blisters, Narrow mouth, Esophageal str... |
OMIM:226600 |
Chromosome 4Q21 Deletion Syndrome |
|
Severe short stature, Postnatal growth retardation, Downturned corners of mouth, Short philtrum, ... |
OMIM:613509 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation |
OMIM:212067 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Cronkhite-Canada Syndrome |
|
Intestinal polyposis, Generalized hyperpigmentation, Cataract, Malabsorption, Hypogeusia, Furrowe... |
ORPHA:2930 |
Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Intestinal bleeding, Nail dystrophy, Nail dysplasia, Sparse... |
OMIM:612199 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Postnatal growth retardation, Thick upper lip vermilion, Thick lower lip vermilion, Wide mouth |
OMIM:309545 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Macroglossia, Glossitis, Genera... |
ORPHA:2221 |
Hereditary Mucoepithelial Dysplasia |
|
Cataract, Corneal dystrophy, Anorectal anomaly, Gingival overgrowth, Tracheoesophageal fistula, F... |
ORPHA:1839 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Reynolds Syndrome |
|
Abnormal gastric mucosa morphology, Xerostomia, Keratoconjunctivitis sicca, Gastroesophageal refl... |
ORPHA:779 |
Isolated Congenital Hypoglossia/Aglossia |
|
Microglossia, Cleft palate |
ORPHA:141152 |
Ménétrier Disease |
|
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... |
ORPHA:2494 |
Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, Alopecia ... |
ORPHA:530 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:614669 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... |
ORPHA:895 |
Lelis Syndrome |
|
Carious teeth, Yellow nails, Perioral hyperpigmentation, Absent lower eyelashes, Furrowed tongue,... |
ORPHA:140936 |
Nk-Cell Enteropathy |
|
Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul... |
ORPHA:263665 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip |
OMIM:137215 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Short philtrum, Temporal hypotrichosis, Bif... |
ORPHA:3241 |
Bazex-Dupre-Christol Syndrome |
|
Hyperpigmentation of the skin, Furrowed tongue, Coarse hair, Sparse hair, Trichoepithelioma, Pili... |
OMIM:301845 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
Dermatopathia Pigmentosa Reticularis |
|
Reticulate pigmentation of oral mucosa, Alopecia of scalp, Nail dystrophy, Reticular hyperpigment... |
OMIM:125595 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Hypopigmen... |
ORPHA:3214 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Abnormality of retinal pigmentation, Furrowed tongue |
ORPHA:2743 |
Plummer-Vinson Syndrome |
|
Tongue atrophy, Concave nail, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mou... |
ORPHA:54028 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Yellow-brown discoloration of the te... |
ORPHA:83450 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... |
ORPHA:2885 |
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Cleft palate, Long philtrum |
ORPHA:166100 |
Dyskeratosis Congenita, X-Linked |
|
Ridged nail, Split nail, Alopecia, Hyperpigmentation of the skin, Sparse eyelashes, Carious teeth... |
OMIM:305000 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia |
|
Abnormal peristalsis, Esophageal food impaction, Lactose intolerance, Esophageal stenosis, Eosino... |
ORPHA:411696 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Intestinal obstruction, Hypopigmentation of hair, Aganglioni... |
ORPHA:897 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence |
OMIM:192445 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Synophrys, Pieba... |
ORPHA:2884 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Aganglionic megacolon, Partial albinism, Piebaldism, Wh... |
OMIM:172800 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Esophageal stenosis, Congenital pyloric atresia, Oral mucosal blisters |
OMIM:619817 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cataract, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, Protein-losing entero... |
OMIM:175500 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Carious teeth, Narrow mouth, Esophageal stricture, Corneal ero... |
ORPHA:89842 |
Epilepsy, Progressive Myoclonic, 9 |
|
Microglossia |
OMIM:616540 |
9q subtelomeric deletion syndrome |
|
Synophrys, Protruding tongue |
DECIPHER:52 |
Waardenburg Syndrome, Type 4A |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:277580 |
Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, Tented upper lip vermilion, Aganglionic megacolon, White eyelashes, Whi... |
ORPHA:894 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Short stature, Furrowed tongue |
ORPHA:2928 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Gingival bleeding, Albinism |
OMIM:614072 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Portal Hypertension, Noncirrhotic, 1 |
|
Esophageal varix |
OMIM:617068 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Furrowed tongue, Low posterior hairline, Everted lower lip vermilion, High palate, Short philtrum... |
ORPHA:1387 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
Inflammatory Bowel Disease (Crohn Disease) 30 |
|
Gastritis, Duodenitis, Pancolitis, Protein-losing enteropathy, Abnormal intestine morphology, Ile... |
OMIM:619079 |
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of |
|
Absence of intrinsic factor |
OMIM:243320 |
Dubin-Johnson Syndrome |
|
Abnormal gastric mucosa morphology |
ORPHA:234 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Tongue atrophy |
ORPHA:496689 |
Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy |
OMIM:254300 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Short stature, Pierre-Robin sequence, Growth delay, Glossoptosis, High ... |
OMIM:613604 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Orofaciodigital Syndrome Iii |
|
Hyperconvex nail, Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Intestinal obstruction, Aphthous ulcer, Ulcerative colitis, Growth delay, Inflammation of the lar... |
OMIM:266600 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Abnormality of p... |
OMIM:257980 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Cleft soft palate, Smooth philtrum, Peters anomaly |
OMIM:614526 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
Erythrokeratoderma ''En Cocardes'' |
|
Abnormality of skin pigmentation |
ORPHA:315 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... |
OMIM:145250 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
Barrett Esophagus |
|
Esophageal ulceration, Esophageal carcinoma, Barrett esophagus, Gastroesophageal reflux |
OMIM:614266 |
Whistling Face Syndrome, Recessive Form |
|
Whistling appearance, Narrow mouth, High palate, Long philtrum, Microglossia |
OMIM:277720 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Midline notch of upper alveolar ridge |
OMIM:617127 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Anterior open-... |
OMIM:602483 |
Seckel Syndrome 2 |
|
Growth delay, Microdontia, Microglossia, Short stature |
OMIM:606744 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Oral leukoplakia, Malabsorption |
ORPHA:342 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Gastroesophageal Reflux |
|
Esophageal neoplasm, Barrett esophagus, Gastroesophageal reflux, Esophagitis |
OMIM:109350 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Short stature, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia |
ORPHA:3201 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... |
ORPHA:659 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Esophageal stricture, Corneal erosion, Gastrointestinal inf... |
ORPHA:79409 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Glossoptosis, Pierre-Robin sequence, Short stature, Cleft palate |
OMIM:620269 |
Mulibrey Nanism |
|
Dental crowding, Corneal dystrophy, Dental malocclusion, Pigmentary retinopathy, Astigmatism, Hyp... |
OMIM:253250 |
Waardenburg Syndrome |
|
Abnormality of the gastrointestinal tract, Intestinal obstruction, Hypopigmentation of hair, Agan... |
ORPHA:3440 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Esophageal stenosis, Cataract, Hypoperistalsis, Esophageal neoplasm, Keratitis, Abnormal esophagu... |
ORPHA:1018 |
Orofaciodigital Syndrome Iv |
|
Short stature, Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High... |
OMIM:258860 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Tongue atrophy |
OMIM:616155 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Cleft palate, Glo... |
OMIM:616367 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Hypoglossia With Situs Inversus |
|
Microglossia, High palate, Hypodontia, Narrow mouth |
OMIM:612776 |
Faciocardiomelic Dysplasia, Lethal |
|
Neonatal death, Microglossia, Narrow mouth |
OMIM:227270 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth, Dysphagia, Hypopigm... |
ORPHA:98795 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Retinitis Pigmentosa 89 |
|
Esophageal varix |
OMIM:618955 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Oral mucosal blisters, Esophageal atresia, Congenital pyloric atresia, Enamel hypoplasia, Axillar... |
OMIM:226730 |
Mismatch Repair Cancer Syndrome 3 |
|
Axillary freckling, Neoplasm of the rectum, Colon cancer, Lisch nodules, Multiple cafe-au-lait spots |
OMIM:619097 |
Hartnup Disease |
|
Malabsorption, Hypopigmented skin patches, Gingivitis, Irregular hyperpigmentation, Glossitis |
ORPHA:2116 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 2 |
|
Gastrointestinal hemorrhage, Premature graying of hair, Esophageal varix |
OMIM:617341 |
Pontocerebellar Hypoplasia, Type 1B |
|
Growth delay, Tongue atrophy, Tongue fasciculations |
OMIM:614678 |
Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity, Abnormal stomach morphology |
ORPHA:281090 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Tongue atrophy |
ORPHA:216873 |
Orofaciodigital Syndrome Xix |
|
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Low posterior hairline,... |
OMIM:620107 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum |
OMIM:613443 |
Coffin-Siris Syndrome 11 |
|
Cleft soft palate, Esophageal atresia, Downturned corners of mouth, Wide mouth, High palate, Bifi... |
OMIM:618779 |
Cholesteryl Ester Storage Disease |
|
Esophageal varix |
ORPHA:75234 |
Facioscapulohumeral Muscular Dystrophy 1 |
|
Tongue atrophy |
OMIM:158900 |
Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
Tetraamelia Syndrome 2 |
|
Absent nipple, Bilateral cleft lip, Cleft palate, Glossoptosis, Ankyloglossia |
OMIM:618021 |
Lichen Planus Pemphigoides |
|
Hypopigmented streaks, Abnormal oral mucosa morphology, Abnormality of the nail |
ORPHA:254478 |
Terminal Osseous Dysplasia |
|
Accessory oral frenulum, Cleft palate, Abnormality of skin pigmentation, Thick vermilion border, ... |
OMIM:300244 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Premature loss of primary teeth, Abnormality of the dentition, Abnorm... |
ORPHA:1810 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Esophageal stricture, Hypodontia, Dysphagia, Enamel hypoplasia |
OMIM:616029 |
9Q21.13 Microdeletion Syndrome |
|
Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of mouth |
ORPHA:531151 |
Auriculocondylar Syndrome |
|
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... |
ORPHA:137888 |
Joubert Syndrome 18 |
|
Intrauterine growth retardation, Lobulated tongue, Cleft palate |
OMIM:614815 |
Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Malabsorption, Paronychia, Cheilitis, Abnorma... |
ORPHA:37 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Esophageal atresia, Iris coloboma, Tracheoesophageal fistula, Sclerocornea |
ORPHA:77298 |
Leiomyoma Of Vulva And Esophagus |
|
Esophageal obstruction |
OMIM:150700 |
Hypoglossia-Hypodactylia |
|
Microglossia, Aglossia, Narrow mouth |
OMIM:103300 |
Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth, Dysphagia, Hypopigm... |
ORPHA:411511 |
Lethal Faciocardiomelic Dysplasia |
|
Intrauterine growth retardation, Microglossia, Narrow mouth |
ORPHA:1972 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Abnormality of skin pigm... |
ORPHA:1806 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Bronchogenic Cyst |
|
Abnormal esophagus morphology, Dysphagia, Abnormal stomach morphology |
ORPHA:2357 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Cataract |
OMIM:251270 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Wide mouth, Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
Craniolenticulosutural Dysplasia |
|
Smooth philtrum, Delayed eruption of teeth, Carious teeth, Hypoplasia of teeth, Abnormality of sk... |
ORPHA:50814 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Sparse eyelashes, Sparse eyebrow, Bilateral cleft lip and palate, Alope... |
OMIM:618874 |
Carey-Fineman-Ziter Syndrome |
|
Short stature, Aplasia/Hypoplasia of the tongue, Pierre-Robin sequence, Cleft palate, Growth dela... |
ORPHA:1358 |
Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
Kindler Epidermolysis Bullosa |
|
Corneal opacity, Abnormal dental enamel morphology, Premature loss of primary teeth, Carious teet... |
ORPHA:2908 |
Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Abnormal tongue morphology, Hypoplasia of teeth, Abnormality of skin p... |
ORPHA:2457 |
Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Aganglionic megacolon, Hamartoma of tongue, Cleft pal... |
OMIM:174300 |
Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Short stature, Cleft palate, Furrowed tongue, Narrow mouth, Open mouth |
OMIM:615065 |
Psoriasis 14, Pustular |
|
Geographic tongue, Nail dystrophy, Furrowed tongue |
OMIM:614204 |
Noonan Syndrome 7 |
|
Impaired oropharyngeal swallow response, Thick vermilion border, Abnormal esophagus morphology, D... |
OMIM:613706 |
Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Abnormal dental morphology, Slow-growing hair, Abnormality of the dentiti... |
ORPHA:238468 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Abnormality of hair textu... |
ORPHA:2752 |
Holzgreve Syndrome |
|
Intrauterine growth retardation, Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate |
ORPHA:2167 |
Systemic Sclerosis |
|
Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Barrett esophagus... |
ORPHA:90291 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Ocular albinism, Giant melanosomes in melanocytes, Astigmatism, Freckl... |
ORPHA:54 |
Aspergillosis |
|
Keratitis, Abnormal esophagus morphology |
ORPHA:1163 |
Paraneoplastic Pemphigus |
|
Oral ulcer, Oral mucosal blisters |
ORPHA:63455 |
Darier Disease |
|
Abnormality of skin pigmentation, Hypermelanotic macule, Anal mucosal leukoplakia |
ORPHA:218 |
Dyskeratosis Congenita, Autosomal Recessive 5 |
|
Esophageal stenosis, Colitis |
OMIM:615190 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Protruding tongue, Low anterior hairline, Gingival overgrowth, Wide mouth, Horizontal eyebrow, Hi... |
OMIM:618797 |
Portal Hypertension, Noncirrhotic, 2 |
|
Esophageal varix, Hepatocellular carcinoma |
OMIM:619463 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Pallister-Hall-Like Syndrome |
|
Microglossia, Median cleft lip, Short stature, Cleft palate |
OMIM:241800 |
Limited Cutaneous Systemic Sclerosis |
|
Abnormality of skin pigmentation, Gastroesophageal reflux, Hypopigmented skin patches, Dysphagia |
ORPHA:220402 |
X-Linked Agammaglobulinemia |
|
Glossoptosis, Conjunctivitis, Hypopigmented skin patches, Malabsorption |
ORPHA:47 |
Wolman Disease |
|
Esophageal varix, Steatorrhea |
ORPHA:75233 |
Down Syndrome |
|
Cataract, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Thick lower lip... |
ORPHA:870 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Spontaneous esophageal perforation |
OMIM:277320 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Esophageal stenosis, Downturned corners of mouth, Anisocoria, Short philtrum, Dysphagia, Achalasia |
OMIM:615510 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
Short stature, Dental crowding, Protruding tongue, Submucous cleft hard palate, Wide mouth, High ... |
OMIM:618106 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Corneal opacity, Abnormality of canine, Pier... |
ORPHA:364577 |
Moebius Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the tongue, Cleft palate, Tooth agenesis, High palate, Eve... |
ORPHA:570 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Aglossia |
OMIM:241310 |
Mohr Syndrome |
|
Median cleft lip, Short stature, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated... |
OMIM:252100 |
Cowden Syndrome 5 |
|
Colonic diverticula, Cataract, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:615108 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Gastrointestinal inflammation, Abnormality of skin pigmenta... |
ORPHA:79411 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Erythematous oral mucosa, Furrowed tongue, Coarse hair, Nail dystrophy, Nail dysplasia,... |
OMIM:158310 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue atrophy, Tongue fasciculations |
OMIM:601596 |
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Glossoptosis, Rhizomelia, Cleft palate |
ORPHA:440354 |
Budd-Chiari Syndrome |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Malabsorption, Esophageal varix, Gastrointes... |
ORPHA:131 |
Adams-Oliver Syndrome 6 |
|
Esophageal varix |
OMIM:616589 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Abnormality of skin pigmentation, Enamel hypoplasia, Oral mucosal blisters |
ORPHA:79402 |
Trisomy 8Q |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Abnormal oral frenulum morphology, Everted ... |
ORPHA:1752 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Bifid tongue, Intestinal malrotation, Bilateral cleft lip and palate |
ORPHA:2001 |
Cohen Syndrome |
|
Abnormality of retinal pigmentation, Macrodontia, Aplasia/Hypoplasia of the tongue, Thick hair, A... |
ORPHA:193 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Tongue atrophy, Tongue fasciculations |
OMIM:620285 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Cataract, Cleft palate, Furrowed tongue, Microcornea, Gastroesophagea... |
OMIM:616449 |
Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Prominent palatine ridges, Bifid uvula,... |
OMIM:200990 |
Carney Complex, Type 1 |
|
Palatine myxoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Glossoptosis, Cleft palate |
OMIM:618356 |
Angelman Syndrome |
|
Protruding tongue, Blue irides, Wide mouth, Macroglossia, Widely spaced teeth, Fair hair, Hypopig... |
OMIM:105830 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Short stature, Cleft palate, High palate, Narrow mouth, Microdontia, Microglossia |
ORPHA:1307 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Thick eyebrow, Macrodontia, Protruding tongue, Diastema, Gingival overgrowth, Wide mouth, Thin ve... |
OMIM:212066 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Rhizomelia, Short stature, Postnatal growth retardation, Pierre-Robin s... |
OMIM:611209 |
Chand Syndrome |
|
Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi... |
ORPHA:1401 |
Non-Syndromic Posterior Hypospadias |
|
Esophageal atresia, Anal atresia, Cleft palate |
ORPHA:95706 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Protruding tongue, Alveolar ridge overgrowth, Cleft palate, Thin vermilion border, Intrauterine g... |
OMIM:612938 |
Cowden Syndrome 6 |
|
Colonic diverticula, Cataract, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:615109 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue |
ORPHA:2759 |
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Esophageal ulceration, Gastric ulcer, Duodenal ulcer |
OMIM:618372 |
Methimazole Embryofetopathy |
|
Esophageal atresia, Tracheoesophageal fistula |
ORPHA:1923 |
Glycogen Storage Disease Iv |
|
Esophageal varix |
OMIM:232500 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Exaggerated median tongue furrow, Dental crowding, Narrow palate |
ORPHA:313892 |
Agnathia-Otocephaly Complex |
|
Microglossia, Aglossia, Cleft palate, Narrow mouth |
OMIM:202650 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
Juvenile Sialidosis Type 2 |
|
Cataract, Corneal opacity, Protruding tongue, Gingival overgrowth, Dysphagia |
ORPHA:93399 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced teeth, Dysphagia, Hypopigm... |
ORPHA:98794 |
Methylmalonic Acidemia With Homocystinuria Type Cblf |
|
Cleft palate, Growth delay, Stomatitis, Intrauterine growth retardation, Glossitis |
ORPHA:79284 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Abnormality of retinal pigmentation, Cataract, Dental crowding, Ecto... |
ORPHA:394 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistula, Cafe-au-lait spot, Du... |
OMIM:619227 |
Gardner Syndrome |
|
Duodenal polyposis, Ampulla of Vater carcinoma, Abnormality of the dentition, Supernumerary tooth... |
ORPHA:79665 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Orofaciodigital Syndrome I |
|
Dry hair, Median cleft lip, Alopecia, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supern... |
OMIM:311200 |
Muenke Syndrome |
|
High, narrow palate, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
3Q29 Microdeletion Syndrome |
|
Cataract, Dental crowding, Abnormality of the dentition, Orofacial cleft, Abnormality of skin pig... |
ORPHA:65286 |
Icf Syndrome |
|
Macroglossia, Malabsorption, Short stature, Protruding tongue |
ORPHA:2268 |
Rabson-Mendenhall Syndrome |
|
Dental crowding, Thick hair, Abnormality of the dentition, Onychauxis, Low anterior hairline, Gin... |
ORPHA:769 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Corneal op... |
OMIM:608670 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Macroglossia, Malabsorption, Short stature, Protruding tongue |
OMIM:242860 |
Marshall-Smith Syndrome |
|
Open mouth, Gingival overgrowth, Generalized hirsutism, Protruding tongue |
ORPHA:561 |
Hepatoportal Sclerosis |
|
Gastrointestinal hemorrhage, Esophageal varix, Gastric varix, Hepatocellular carcinoma |
ORPHA:64743 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Corneal opacity, Oral mucosal blisters, Depigmentation/hyperpigmentation of skin, Generalized ret... |
ORPHA:79396 |
Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Carious teeth, Keratitis, Xerostomia, Nasolacrimal duct obstruction, Smoot... |
ORPHA:1051 |
Hypoglossia-Hypodactyly Syndrome |
|
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Abnormal fingernail morphology, Cleft palate, ... |
ORPHA:989 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Abnormality of skin pigmentation, Cataract, Dysphagia |
OMIM:612379 |
Williams Syndrome |
|
Rectal prolapse, Gastroesophageal reflux, Microdontia, Megalocornea, Abnormal dental morphology, ... |
ORPHA:904 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Narrow mouth, Anal atresia |
ORPHA:59315 |
Tarp Syndrome |
|
Cleft palate, Tongue nodules, Glossoptosis, High palate, Neonatal death, Intrauterine growth reta... |
OMIM:311900 |
Orofaciodigital Syndrome Type 1 |
|
Alopecia, Median cleft lip, Brittle hair, Abnormal dental enamel morphology, Accessory oral frenu... |
ORPHA:2750 |
Apert Syndrome |
|
Delayed eruption of teeth, Esophageal atresia, Corneal erosion, Cleft palate, Narrow palate, Ecto... |
ORPHA:87 |
Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Keratoconus, Protruding tongue, Wide mouth, Astigmatis... |
ORPHA:72 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Sparse hair, Microdontia, Periorbit... |
OMIM:305100 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Spinocerebellar Ataxia 36 |
|
Tongue atrophy, Tongue fasciculations |
OMIM:614153 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, Aganglionic megacolon, White eyebrow, Blue irides, Hypopigmented skin patches, P... |
OMIM:613266 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Alopecia, Sparse eyelashes, Abnormality of the dentition, Sparse eyebrow, High, narr... |
ORPHA:2108 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis |
ORPHA:93346 |
Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Cataract, Esophageal varix |
ORPHA:974 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Esophageal varix, Enamel hypoplasia |
OMIM:614576 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal stroma tumor, Intestinal obstruction, Hyperpigmentation of the skin, Dysphagia |
OMIM:606764 |
Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia |
OMIM:615272 |
Developmental And Epileptic Encephalopathy 80 |
|
Tented upper lip vermilion, Protruding tongue, Growth delay, Wide mouth, High palate, Long philtr... |
OMIM:618580 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Long philtrum, Short stature, Gingival overgrowth, Protruding tongue |
OMIM:619179 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Ankyloglossia |
OMIM:619352 |
Orofaciodigital Syndrome Type 6 |
|
Short stature, Hamartoma of tongue, Cleft palate, Midline notch of upper alveolar ridge, Growth d... |
ORPHA:2754 |
Ritscher-Schinzel Syndrome 2 |
|
Intestinal malrotation, Protruding tongue, Postnatal growth retardation, High palate, Short philtrum |
OMIM:300963 |
Agel Amyloidosis |
|
Tongue atrophy, Cataract, Xerostomia, Keratoconjunctivitis sicca, Lattice corneal dystrophy, Corn... |
ORPHA:85448 |
Cowden Syndrome 1 |
|
Colonic diverticula, Cataract, Furrowed tongue, Hamartomatous polyposis, High palate, Narrow mouth |
OMIM:158350 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Protruding tongue, Synophrys, Widow's peak, Everted lower lip vermilion, High palate, Thin eyebro... |
OMIM:617804 |
Gastritis, Familial Giant Hypertrophic |
|
Giant hypertrophic gastritis |
OMIM:137280 |
Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Unilateral alveolar cleft of maxi... |
ORPHA:2751 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Thin upper lip vermilion, Short stature, Tracheoesophageal fistula, High palate, Stomatitis, Glos... |
OMIM:277380 |
Immunodeficiency 12 |
|
Esophageal stricture, Recurrent aphthous stomatitis, Cheilitis |
OMIM:615468 |
Chronic Graft Versus Host Disease |
|
Esophageal stricture, Xerostomia, Abnormality of skin pigmentation, Abnormal esophagus morphology... |
ORPHA:99921 |
Spinocerebellar Ataxia Type 36 |
|
Tongue atrophy, Tongue fasciculations |
ORPHA:276198 |
Cleidocranial Dysplasia |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormality of the dentition, Open ... |
ORPHA:1452 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Natal tooth, Rhizomelia, Hamartoma of tongue, Cleft lip, Cleft palate, Incomplete cleft of the up... |
OMIM:616300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Thin upper lip vermilion, Thick eyebrow, Diastema, Furrowed tongue, Patchy alopecia, High palate,... |
OMIM:300534 |
Congenital Sialidosis Type 2 |
|
Cataract, Corneal opacity, Protruding tongue, Gingival overgrowth, Developmental cataract |
ORPHA:93400 |
Treacher-Collins Syndrome |
|
Cataract, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Open bi... |
ORPHA:861 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Esophageal stricture |
ORPHA:158673 |
Autosomal Recessive Robinow Syndrome |
|
Alopecia, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of the dentition, Open... |
ORPHA:1507 |
Trisomy 18 |
|
Abnormality of retinal pigmentation, Cataract, Esophageal atresia, Non-midline cleft lip, Narrow ... |
ORPHA:3380 |
Ring Chromosome 22 Syndrome |
|
Growth delay, Thick vermilion border, Protruding tongue |
ORPHA:1446 |
Kleefstra Syndrome 1 |
|
Natal tooth, Protruding tongue, Persistence of primary teeth, Synophrys, Macroglossia, Everted lo... |
OMIM:610253 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Microglossia, Aplasia/Hypoplasia of the eyebrow, Narrow mouth |
ORPHA:990 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Glossoptosis, Short stature |
ORPHA:2031 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Tongue atrophy, Cataract, Developmental glaucoma, Buphthalmos, Difficulty in tongue movements |
ORPHA:99956 |
Immunodeficiency 57 With Autoinflammation |
|
Perianal abscess, Inflammation of the large intestine, Gastritis |
OMIM:618108 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short stature, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, Agenesis of per... |
OMIM:616894 |
Pitt-Hopkins-Like Syndrome 2 |
|
Wide mouth, Protruding tongue |
OMIM:614325 |
Feingold Syndrome |
|
Esophageal atresia, Orofacial cleft, Duodenal atresia |
ORPHA:1305 |
Otospondylomegaepiphyseal Dysplasia |
|
Glossoptosis, Disproportionate short stature, Bifid uvula, Cleft palate |
ORPHA:1427 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, Tracheoesophageal fistula, Orofacial cleft, High palate, Short ... |
ORPHA:958 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Thin upper lip vermilion, Dental crowding, Synophrys, Narrow palate, High palate, Thick vermilion... |
OMIM:616078 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Orofaciodigital Syndrome Vi |
|
Short stature, Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Cleft palate, Incom... |
OMIM:277170 |
Vacterl With Hydrocephalus |
|
Microcornea, Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
ORPHA:3412 |
Coach Syndrome 1 |
|
Wide mouth, Esophageal varix |
OMIM:216360 |
Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Bifid uvula, Cleft palate, Narrow mouth |
ORPHA:1790 |
Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
Raine Syndrome |
|
Natal tooth, Short stature, Protruding tongue, Gingival overgrowth, Cleft palate, Wide mouth, Hig... |
OMIM:259775 |
Progeroid Short Stature With Pigmented Nevi |
|
Irregular dentition, Cataract, Allergic conjunctivitis, Hypodontia, Esophageal ulceration |
OMIM:176690 |
Frontorhiny |
|
Bifid tongue, Iris coloboma, Cleft palate, Cataract |
ORPHA:391474 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Abnormality of skin pigmentation, High palate, Abnormal dental enamel morphology |
ORPHA:2180 |
Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of the dentition, Abnorm... |
ORPHA:96169 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
OMIM:314390 |
Cirrhosis, Familial |
|
Esophageal varix |
OMIM:215600 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
High, narrow palate, Glossoptosis, Iris coloboma, Cleft palate |
ORPHA:436003 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Open bite, Deep philtrum, Widow's peak, Wide mouth, Coarse ha... |
ORPHA:1974 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Esophageal varix |
ORPHA:367 |
Benign Schwannoma |
|
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology |
ORPHA:252164 |
Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate |
ORPHA:3157 |
Carey-Fineman-Ziter Syndrome 1 |
|
Cataract, Pierre-Robin sequence, Cleft palate, Glossoptosis, High palate, Gastroesophageal reflux... |
OMIM:254940 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Short stature, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid ... |
OMIM:613091 |
Autosomal Dominant Robinow Syndrome |
|
Alopecia, Median cleft lip and palate, Curly eyelashes, Open bite, High, narrow palate, Abnormali... |
ORPHA:3107 |
Hereditary Folate Malabsorption |
|
Glossitis, Cheilitis |
ORPHA:90045 |
Cowden Syndrome |
|
Cataract, Hypopigmented skin patches, Furrowed tongue, Hamartomatous polyposis, Macroglossia, Mel... |
ORPHA:201 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:619859 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, High, narrow palate, Cleft palate, Furrowed ... |
ORPHA:464738 |
Pelvis-Shoulder Dysplasia |
|
Microglossia, Cleft palate, Microcornea, Thick anterior alveolar ridges, Iris coloboma |
ORPHA:2839 |
Gracile Bone Dysplasia |
|
Ankyloglossia, Short stature |
OMIM:602361 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Protruding tongue, Postnatal growth retardation, Diastema, Thick lower lip vermilion, Growth dela... |
OMIM:301040 |
Cerebrocostomandibular Syndrome |
|
Anal stenosis, Cleft soft palate, Postnatal growth retardation, Cleft lip, Carious teeth, Pierre-... |
OMIM:117650 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
|
Esophageal varix |
OMIM:619662 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Everted lower lip vermilion, Smooth philtrum, Protruding tongue |
ORPHA:324410 |
Microgastria-Limb Reduction Defect Syndrome |
|
Intestinal malrotation, Hiatus hernia, Esophageal atresia, Rectal atresia, Tracheoesophageal fist... |
ORPHA:2538 |
Adams-Oliver Syndrome 5 |
|
Esophageal varix |
OMIM:616028 |
Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Dental malocclusion, Gingival overgrowth, Orofacia... |
ORPHA:97360 |
Focal Dermal Hypoplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Corneal opacity, Abnormality of th... |
ORPHA:2092 |
Cholesteryl Ester Storage Disease |
|
Esophageal varix, Steatorrhea |
OMIM:278000 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Cleft palate, Furrowed tongue, Downturned corners of mouth, Macroglossia, Oligodontia, High palat... |
ORPHA:453499 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Esophageal atresia, Deep philtrum, Cleft palate |
OMIM:610536 |
Caroli Disease |
|
Cholangiocarcinoma, Esophageal varix, Conjunctival icterus |
ORPHA:53035 |
Kinsship Syndrome |
|
Thin upper lip vermilion, Synophrys, Thick lower lip vermilion, Gingival overgrowth, Downturned c... |
OMIM:619297 |
Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Cataract, Corneal opacity, Cleft palate, Abnormality of skin pigmentation, ... |
ORPHA:1052 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Gingivitis, Giant melanosomes in mel... |
OMIM:214500 |
Hereditary Hemorrhagic Telangiectasia |
|
Intestinal polyposis, Esophageal varix, Conjunctival telangiectasia, Gastrointestinal hemorrhage |
ORPHA:774 |
Stevens-Johnson Syndrome |
|
Gastrointestinal hemorrhage, Esophageal stricture, Corneal erosion, Conjunctivitis, Dysphagia |
ORPHA:36426 |
Fanconi Anemia, Complementation Group B |
|
Esophageal atresia, Tracheoesophageal fistula, Duodenal atresia |
OMIM:300514 |
Fryns Syndrome |
|
Tented upper lip vermilion, Aganglionic megacolon, Intestinal malrotation, Cleft upper lip, Esoph... |
OMIM:229850 |
Cholestasis-Lymphedema Syndrome |
|
Gastrointestinal hemorrhage, Abnormality of skin pigmentation, Acholic stools |
ORPHA:1414 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Protruding tongue, Growth delay, Macroglossia, Downturned corners of mouth, Everted lower lip ver... |
ORPHA:96147 |
Cartilage-Hair Hypoplasia |
|
Anal stenosis, Aganglionic megacolon, Malabsorption, Esophageal atresia, Fair hair |
OMIM:250250 |
Myopathy, Myofibrillar, 7 |
|
Tongue atrophy |
OMIM:617114 |
Gm1-Gangliosidosis, Type Ii |
|
Protruding tongue, Gingival overgrowth, Narrow mouth |
OMIM:230600 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short lingual frenulum, Rhizomelia, Short st... |
OMIM:180700 |
Cerebrocostomandibular Syndrome |
|
Short stature, Cleft palate, Glossoptosis, Intrauterine growth retardation, Short hard palate |
ORPHA:1393 |
Developmental And Epileptic Encephalopathy 31B |
|
Gingival overgrowth, Protruding tongue |
OMIM:620352 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Anal fissure, Oral mucosal blisters, Carious teeth, Narrow mouth, Corneal... |
ORPHA:79408 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Tongue fasciculations |
OMIM:211530 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated tongue, Neo... |
OMIM:269860 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Open bi... |
ORPHA:352665 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Short stature, Protruding tongue, Growth delay, Thick vermilion border, Narrow mouth, Intrauterin... |
OMIM:608779 |
Brittle Cornea Syndrome 1 |
|
Red hair, Dentinogenesis imperfecta |
OMIM:229200 |
Marshall-Smith Syndrome |
|
Eclabion, Irregular dentition, Brittle hair, Highly arched eyebrow, Pyloric stenosis, Synophrys, ... |
OMIM:602535 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Cataract, Protruding tongue, Brushfield spots, High, narrow palate, Macroglossia, Pigmentary reti... |
OMIM:214100 |
Otopalatodigital Syndrome Type 2 |
|
Cataract, Developmental glaucoma, Pierre-Robin sequence, Cleft palate, Glossoptosis, Oligodontia,... |
ORPHA:90652 |
Leukocyte Adhesion Deficiency Type Ii |
|
Severe periodontitis, Short stature, Protruding tongue, Deep philtrum, Gingival overgrowth, Narro... |
ORPHA:99843 |
Tarp Syndrome |
|
Abnormal hair pattern, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Glossoptos... |
ORPHA:2886 |
Smith-Lemli-Opitz Syndrome |
|
Hypopigmentation of hair, Cataract, Aganglionic megacolon, Abnormal dental enamel morphology, Abn... |
ORPHA:818 |
Hardikar Syndrome |
|
Lacrimal duct stenosis, Cleft soft palate, Intestinal malrotation, Celiac disease, Hematemesis, E... |
OMIM:301068 |
Spondyloepiphyseal Dysplasia Congenita |
|
Growth delay, Glossoptosis, Disproportionate short-trunk short stature, Cleft palate |
ORPHA:94068 |
Fanconi Anemia, Complementation Group L |
|
Esophageal atresia, Tracheoesophageal fistula, Cleft palate, Cafe-au-lait spot, Anal atresia |
OMIM:614083 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corners of mouth, Short phi... |
OMIM:619950 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
Catel-Manzke Syndrome |
|
Cleft upper lip, Postnatal growth retardation, Pierre-Robin sequence, Cleft palate, Glossoptosis,... |
OMIM:616145 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Cataract, Abnormal dental morphology, Abnormal dental enamel morpholog... |
ORPHA:464 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Gingival overgrowth, Wide ... |
OMIM:268310 |
Caroli Syndrome |
|
Cholangiocarcinoma, Hematemesis, Conjunctival icterus, Esophageal varix, Melena |
ORPHA:480520 |
X-Linked Dystonia-Parkinsonism |
|
Protruding tongue |
ORPHA:53351 |
Generalized Pustular Psoriasis |
|
Geographic tongue, Cheilitis, Abnormality of the nail |
ORPHA:247353 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cleft lip, Furrowed tongue, Gastroesophageal reflux, High palate, Broad alveolar ridges, Peters a... |
OMIM:616975 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Short stature, High, narrow palate, Pyloric stenosis, Cleft palate, Gro... |
ORPHA:261330 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Cleft lip, Cleft palate, Anal atresia |
OMIM:617925 |
Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Carious teeth, Blotching pigmentation of the skin, Thin vermilion border, Smooth ton... |
OMIM:601559 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Thin upper lip vermilion, Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched e... |
ORPHA:444077 |
Wolfram Syndrome 2 |
|
Gastric ulcer |
OMIM:604928 |
Arteriosclerosis, Severe Juvenile |
|
Gastric ulcer |
OMIM:208060 |
Prader-Willi Syndrome Due To Translocation |
|
Thin upper lip vermilion, Hypopigmentation of hair, Carious teeth, Alveolar ridge overgrowth, Cle... |
ORPHA:177907 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Xerostomia |
OMIM:180920 |
Microphthalmia, Syndromic 3 |
|
Esophageal atresia, Cataract, Sclerocornea |
OMIM:206900 |
Au-Kline Syndrome |
|
Supernumerary nipple, Dental malocclusion, Cleft palate, Downturned corners of mouth, Oligodontia... |
OMIM:616580 |
Wilson Disease |
|
Kayser-Fleischer ring, Esophageal varix, Dysphagia, Hepatocellular carcinoma |
OMIM:277900 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Esophageal varix, Hepatocellular adenoma |
ORPHA:264580 |
Hurler Syndrome |
|
Corneal opacity, Abnormality of skin pigmentation, Macroglossia, Everted lower lip vermilion, Thi... |
ORPHA:93473 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Short stature, Abnormality of the dentition, Postnatal growth retardati... |
ORPHA:1596 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Anal stenosis, Cataract, Malabsorption, Abnormality of the dentition, ... |
ORPHA:235 |
Apert Syndrome |
|
Delayed eruption of teeth, Pyloric stenosis, Esophageal atresia, Dental malocclusion, Narrow pala... |
OMIM:101200 |
Imerslund-Gräsbeck Syndrome |
|
Glossitis, Angular cheilitis |
ORPHA:35858 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Hematemesis, Esophageal varix |
OMIM:263200 |
1Q21.1 Microdeletion Syndrome |
|
Short stature, High palate, Long philtrum, Intrauterine growth retardation, Ankyloglossia |
ORPHA:250989 |
Large Congenital Melanocytic Nevus |
|
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches |
ORPHA:626 |
Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Prominent corneal nerve fibers, Abnormal tongue morphology, Neoplasm of th... |
ORPHA:653 |
Charcot-Marie-Tooth Disease Type 4C |
|
Anisocoria, Difficulty in tongue movements, Tongue atrophy, Tongue fasciculations |
ORPHA:99949 |
Feingold Syndrome 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Tracheoesophageal fistula, High pa... |
OMIM:164280 |
Immunodeficiency 23 |
|
Esophageal stricture, High palate |
OMIM:615816 |
Aicardi Syndrome |
|
Intestinal polyposis, Abnormality of retinal pigmentation, Hiatus hernia, Malabsorption, Cleft up... |
ORPHA:50 |
Pallister-Hall Syndrome |
|
Natal tooth, Short stature, Cleft upper lip, Cleft palate, Anteriorly placed anus, Neonatal death... |
OMIM:146510 |
Stickler Syndrome |
|
Cataract, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Ectopia lentis, Cleft pa... |
ORPHA:828 |
Mirage Syndrome |
|
Achalasia, Gastroesophageal reflux, Esophageal stricture |
OMIM:617053 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Protruding tongue, Synophrys, Gingival overgrowth, High palate, Micro... |
OMIM:619777 |
Coffin-Siris Syndrome 1 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Duodenal ulcer, Intestinal malrotation, Coni... |
OMIM:135900 |
Fanconi Anemia |
|
Cataract, Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Clef... |
ORPHA:84 |
Meckel Syndrome |
|
Cataract, Aplasia/Hypoplasia of the tongue, Sclerocornea, Cleft palate, Furrowed tongue, Microcor... |
ORPHA:564 |
Distal Deletion 12Q |
|
Median cleft lip, High, narrow palate, Esophageal atresia, Pyloric stenosis, Supernumerary tooth,... |
ORPHA:96149 |
Giant Cell Arteritis |
|
Alopecia, Glossitis |
ORPHA:397 |
Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
Achondrogenesis, Type Ia |
|
Stillbirth, Disproportionate short-trunk short stature, Protruding tongue |
OMIM:200600 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Hypopigmentation of hair, Cleft upper lip, Albinis... |
OMIM:242840 |
Opitz Gbbb Syndrome |
|
Natal tooth, Short stature, Cleft lip, Tracheoesophageal fistula, Cleft palate, Ectopic anus, Hig... |
ORPHA:2745 |
Charcot-Marie-Tooth Disease Type 1F |
|
Tongue atrophy |
ORPHA:101085 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Gastric ulcer, Esophageal varix, Corneal opacity |
ORPHA:2072 |
Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation, Cleft palate, Abnormality of the dentition |
ORPHA:90354 |
Gabriele-De Vries Syndrome |
|
Abnormality of upper lip vermillion, Lacrimal duct stenosis, Oral-pharyngeal dysphagia, Abnormali... |
ORPHA:506358 |
Fanconi Anemia, Complementation Group D2 |
|
Abnormality of skin pigmentation, Esophageal atresia, Cafe-au-lait spot, Tracheoesophageal fistula |
OMIM:227646 |
Maternal Phenylketonuria |
|
Esophageal atresia, High palate, Long philtrum |
ORPHA:2209 |
Feingold Syndrome Type 1 |
|
Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia |
ORPHA:391641 |
Van Esch-O'Driscoll Syndrome |
|
Esophageal atresia, Tracheoesophageal fistula, Downturned corners of mouth, Wide mouth, Bifid uvula |
OMIM:301030 |
Cousin Syndrome |
|
Microcornea, Microglossia, Alveolar ridge overgrowth, Cleft palate |
OMIM:260660 |
Helsmoortel-Van Der Aa Syndrome |
|
Thin upper lip vermilion, Short stature, Carious teeth, High, narrow palate, Thick lower lip verm... |
OMIM:615873 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Gastric ulcer, Gastric hypertrophy |
OMIM:161700 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Short stature, Cleft palate, Downturned corners of mouth, Intrauterine growth retardation, Ankylo... |
ORPHA:488642 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Growth delay, Stomatitis, Intrauterine growth retardation, Glossitis, Smooth philtrum |
ORPHA:79282 |
Neuroocular Syndrome |
|
Cataract, Peters anomaly, Brushfield spots, Short uvula, Submucous cleft hard palate, Blue irides... |
OMIM:619539 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Gastric ulcer, Malabsorption |
ORPHA:3463 |
Joubert Syndrome 1 |
|
Highly arched eyebrow, Macroglossia, Triangular-shaped open mouth, Protruding tongue |
OMIM:213300 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ileus, Hypopigmente... |
ORPHA:163746 |
Fontaine Progeroid Syndrome |
|
Thin upper lip vermilion, Sparse scalp hair, Absent nipple, Protruding tongue, High, narrow palat... |
OMIM:612289 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morphology, Malabsorption, Ocu... |
ORPHA:79430 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Cataract, Conical tooth, Keratitis, Abnormality of skin pigmentation, ... |
OMIM:308300 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Protruding tongue |
OMIM:619580 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Corneal opacity, Abnormal dental enamel morphology, Scleroco... |
ORPHA:2556 |
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Aphthous ulcer, Esophageal varix, Oral ulcer |
OMIM:615688 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Rhizomelia, Protruding tongue, Long philtrum, Neonatal short-limb short stature |
ORPHA:50945 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Abnormal oral mucosa morphology, Esophageal stricture, Gastrointestinal i... |
ORPHA:79404 |
Ablepharon Macrostomia Syndrome |
|
Corneal opacity, Corneal erosion, Abnormality of skin pigmentation, Wide mouth, Thin vermilion bo... |
ORPHA:920 |
Yunis-Varon Syndrome |
|
Cataract, Premature loss of primary teeth, Sclerocornea, Abnormality of dental structure, High, n... |
ORPHA:3472 |
Okur-Chung Neurodevelopmental Syndrome |
|
Thin upper lip vermilion, Highly arched eyebrow, Protruding tongue, Synophrys, High palate |
OMIM:617062 |
Meckel Syndrome, Type 1 |
|
Smooth philtrum, Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, ... |
OMIM:249000 |
Down Syndrome |
|
Aganglionic megacolon, Protruding tongue, Brushfield spots, Duodenal stenosis, Macroglossia, Anal... |
OMIM:190685 |
Degcags Syndrome |
|
Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, Hi... |
OMIM:619488 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Esophageal varix |
ORPHA:309854 |
Okamoto Syndrome |
|
Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intestinal malrotati... |
ORPHA:2729 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormality of retinal pigmentation, Tongue atrophy, Cataract |
ORPHA:466768 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Absent nipple, Carious teeth, Sparse eyebrow, Downturned c... |
OMIM:620186 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Short stature, Abnormality of the dentition, Cleft palate, Anteriorly placed anus, Intrauterine g... |
OMIM:151050 |
Senior-Boichis Syndrome |
|
Esophageal varix |
ORPHA:84081 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cataract, Cleft upper lip, Esophageal atresia, Ectopic anus, Long philtrum, Bifid tongue, Anal at... |
ORPHA:93271 |
Orofaciodigital Syndrome Type 14 |
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Accessory oral frenulum, Hamartoma of tongue, Supernumerary tooth, Aplasia of the epiglottis, Cle... |
ORPHA:434179 |
Syndromic Diarrhea |
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Villous atrophy, Brittle hair, Gastritis, Hypopigmentation of hair, Colitis, Uncombable hair, Woo... |
ORPHA:84064 |
Arima Syndrome |
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Wide mouth, Esophageal varix |
OMIM:243910 |
Congenital Tracheal Stenosis |
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Abnormal stomach morphology, Tracheoesophageal fistula, Duodenal stenosis, Meckel diverticulum, A... |
ORPHA:141127 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
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Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Cleft palate, Microglossia |
OMIM:263520 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Gastroesophageal reflux, Esophageal varix, High palate, Intestinal malrotation |
OMIM:613658 |
Orofaciodigital Syndrome Xiv |
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Natal tooth, Hamartoma of tongue, Cleft lip, Supernumerary tooth, Aplasia of the epiglottis, Clef... |
OMIM:615948 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
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Intestinal malrotation, Esophageal atresia, Cleft lip, Tracheoesophageal fistula, Cleft palate, C... |
OMIM:265380 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
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Thin upper lip vermilion, Sparse scalp hair, Highly arched eyebrow, Sparse eyebrow, Synophrys, Ag... |
OMIM:619841 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
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Macroglossia, Open mouth, Protruding tongue |
ORPHA:258 |
Lysosomal Acid Lipase Deficiency |
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Esophageal varix, Steatorrhea |
ORPHA:275761 |
Autosomal Recessive Polycystic Kidney Disease |
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Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Protein-losing enteropathy, He... |
ORPHA:731 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
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Hypopigmentation of the skin, Thin upper lip vermilion, Cataract, High, narrow palate, Short uvul... |
OMIM:619475 |
Microsporidiosis |
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Keratitis, Corneal ulceration, Glossitis, Keratoconjunctivitis |
ORPHA:2552 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
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Thin upper lip vermilion, Tented upper lip vermilion, Short stature, Hypoplastic philtrum, Protru... |
OMIM:309580 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Few cafe-au-lait spots, Thin upper lip vermilion, Delayed eruption of teeth, Dental crowding, Cle... |
OMIM:619503 |
Glucagonoma |
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Gastrointestinal hemorrhage, Intestinal obstruction, Abnormal gastrointestinal motility, Steatorr... |
ORPHA:97280 |
Hutchinson-Gilford Progeria Syndrome |
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Delayed eruption of teeth, Absent eyebrow, Short lingual frenulum, Dental crowding, Alopecia tota... |
ORPHA:740 |
Smith-Lemli-Opitz Syndrome |
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Cataract, Aganglionic megacolon, Intestinal malrotation, Dental crowding, Pyloric stenosis, Gastr... |
OMIM:270400 |
Fraser Syndrome |
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Anal stenosis, Dental crowding, Abnormal hair pattern, Cleft upper lip, Dental malocclusion, Orof... |
ORPHA:2052 |
Ring Chromosome 7 Syndrome |
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Cleft palate, Abnormality of skin pigmentation, Thin vermilion border, Short philtrum, Median cle... |
ORPHA:1449 |
Stüve-Wiedemann Syndrome |
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Intrauterine growth retardation, Short stature, Smooth tongue, Abnormality of the dentition |
ORPHA:3206 |
Ring Chromosome 13 Syndrome |
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Abnormality of skin pigmentation, High palate, Short philtrum, Cafe-au-lait spot, Anal atresia, A... |
ORPHA:96176 |
Kawasaki Disease |
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Abnormality of nail color, Glossitis, Cheilitis |
ORPHA:2331 |
Carney Complex |
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Neoplasm of the stomach, Esophageal neoplasm, Neoplasm of the rectum, Multiple lentigines, Abnorm... |
ORPHA:1359 |
Congenital Tracheomalacia |
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Esophageal atresia, Gastroesophageal reflux, Tracheoesophageal fistula |
ORPHA:95430 |
Plague |
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Chapped lip, Hematemesis, Enterocolitis, Inflammation of the large intestine, Conjunctival hypere... |
ORPHA:707 |
Bilateral Perisylvian Polymicrogyria |
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Intrauterine growth retardation, Protruding tongue |
ORPHA:98889 |
Vascular Ehlers-Danlos Syndrome |
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Keratoconus, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, High, ... |
ORPHA:286 |
Charge Syndrome |
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Anal stenosis, Cataract, Cleft upper lip, Esophageal atresia, Tracheoesophageal fistula, Cleft pa... |
OMIM:214800 |
Viss Syndrome |
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Chronic gastritis, Sparse scalp hair, Alopecia, Duodenitis, Intestinal malrotation, Cleft soft pa... |
OMIM:619472 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Exaggerated median tongue furrow, Intestinal malrotation, Short nail, Supernumerary nipple, Submu... |
OMIM:312870 |
Microphthalmia, Syndromic 6 |
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Sclerocornea, Cleft palate, Microcornea, High palate, Microglossia, Bifid uvula |
OMIM:607932 |
Vater/Vacterl Association |
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Esophageal atresia, Tracheoesophageal fistula, Anal atresia |
OMIM:192350 |
Pallister-Hall Syndrome |
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Natal tooth, Short stature, Accessory oral frenulum, Cleft lip, Cleft palate, Intrauterine growth... |
ORPHA:672 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
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Gastroesophageal reflux, Everted lower lip vermilion, Esophageal varix |
OMIM:619534 |
Congenital Disorder Of Glycosylation, Type Iiw |
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Supernumerary tooth, Ankyloglossia |
OMIM:619525 |
Choreoacanthocytosis |
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Protruding tongue |
ORPHA:2388 |
Alström Syndrome |
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Abnormality of dental color, Cataract, Posterior subcapsular cataract, Esophageal varix, Gingivit... |
ORPHA:64 |