| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
| Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
| Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
| Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
| Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
| Tooth Agenesis, Selective, 1 |
|
Hypodontia |
OMIM:106600 |
| Anodontia Of Permanent Dentition |
|
Anodontia |
OMIM:206780 |
| Malposition Of Teeth With Or Without Hypodontia/Oligodontia |
|
Tooth malposition, Hypodontia |
OMIM:189490 |
| Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
| Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
| Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
| Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
| Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
| Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
| Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
| Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
| Tooth Agenesis, Selective, 3 |
|
Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal hair morphology, Oligodontia,... |
OMIM:604625 |
| Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
| Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
| Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
| Trichodentoosseous Syndrome |
|
Abnormal hair morphology, Microdontia, Taurodontia, Widely spaced teeth |
OMIM:190320 |
| Discoid Fibromas, Familial Multiple |
|
Abnormal hair morphology |
OMIM:190340 |
| Ringed Hair |
|
Abnormal hair morphology |
OMIM:180600 |
| Hairy Nose Tip |
|
Abnormal hair morphology |
OMIM:139630 |
| Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
| Tricho-Dento-Osseous Syndrome |
|
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... |
ORPHA:3352 |
| Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
|
Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
| Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
| Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor |
OMIM:616390 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Taurodontism |
|
Taurodontia |
OMIM:272700 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair, Hypodontia |
OMIM:246500 |
| Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
| Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
| Witkop Syndrome |
|
Ridged nail, Concave nail, Microdontia of primary teeth, Agenesis of permanent teeth, Fine hair, ... |
OMIM:189500 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse axillary hair, Abnormality of the dentition, Sparse pubic hair, Sparse e... |
OMIM:605389 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic... |
ORPHA:2722 |
| Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
| Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
| Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
| Anonychia-Microcephaly Syndrome |
|
Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
| Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
| Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
|
Amelogenesis imperfecta |
OMIM:301201 |
| Amelogenesis Imperfecta, Type Ib |
|
Amelogenesis imperfecta |
OMIM:104500 |
| Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
| Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
| Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
| Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
| Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Amelogenesis imperfecta, Alopecia of scalp, Trichodysplasia |
ORPHA:79129 |
| Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
| Canine Teeth, Absence Of Upper Permanent |
|
Agenesis of canine |
OMIM:114600 |
| Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo... |
OMIM:615059 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Book Syndrome |
|
Premature graying of hair |
OMIM:112300 |
| Hypotrichosis 3 |
|
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Abnormal sweat glan... |
OMIM:613981 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Abnormality of the dentition, Absent... |
OMIM:612841 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
| Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
| Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
| Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
| Albinism, Oculocutaneous, Type Iii |
|
Red hair, Partial albinism, Albinism |
OMIM:203290 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Hypotrichosis 10 |
|
Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:614238 |
| Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
| Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
| Hypotrichosis 12 |
|
Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho... |
OMIM:615885 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Natal tooth, Sparse eyelashes, Sparse eyebrow, Hypoplastic sweat glands, Oligo... |
OMIM:601345 |
| Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor... |
OMIM:604379 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Tooth Agenesis, Selective, 8 |
|
Sparse eyebrow, Microdontia, Sparse hair, Selective tooth agenesis |
OMIM:617073 |
| Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Dental enamel pits, Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Dystrophic fingern... |
OMIM:619787 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
| Tietz Syndrome |
|
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... |
ORPHA:42665 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Uncombable Hair Syndrome 2 |
|
Uncombable hair, Juvenile cataract, Pili canaliculi |
OMIM:617251 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Dental Ankylosis |
|
Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
| Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
| Otodental Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... |
ORPHA:2791 |
| Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Hypertrichosis Lanuginosa Congenita |
|
Congenital, generalized hypertrichosis, Double eyebrow |
OMIM:145700 |
| Hypotrichosis 15 |
|
Sparse scalp hair |
OMIM:620177 |
| Hypotrichosis 2 |
|
Sparse scalp hair |
OMIM:146520 |
| Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
| Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... |
OMIM:617337 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars... |
OMIM:616788 |
| Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
| Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Sparse hair, Uncombable hair |
ORPHA:1264 |
| Aredyld |
|
Mandibular prognathia, Generalized hypotrichosis |
OMIM:207780 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Microdontia, Agenesis of molar, Supernumerary tooth, Diastema |
OMIM:619718 |
| Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
| Ringed Hair Disease |
|
Abnormal hair pattern, Fine hair |
ORPHA:169 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
| Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
| Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti... |
ORPHA:2222 |
| Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
| Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
| Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
| Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
| Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, White forelock, Heterochromia iridis |
OMIM:600193 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair |
OMIM:614931 |
| Hypertrichosis, Anterior Cervical |
|
Anterior cervical hypertrichosis |
OMIM:600457 |
| Hypertrichosis Universalis Congenita, Ambras Type |
|
Congenital, generalized hypertrichosis |
OMIM:145701 |
| Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
| Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, High anterior hairline, Notched primary central incisor |
OMIM:620062 |
| Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
| Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to... |
ORPHA:2228 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormality of the dentition, Abnormal eyelash morphology, Gingivitis, Periodo... |
ORPHA:1008 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary t... |
ORPHA:248 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Sparse hair, Reduced terminal:vellus ratio, Pili torti |
OMIM:601553 |
| Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Carious teeth, Supernumerary tooth, Hypoplasia of the zygomatic bone, Micrognathia |
ORPHA:3145 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal dental morphology, Abnormal eyelash morphology, Hypodontia, Sparse hair, Abnormal toenai... |
ORPHA:1818 |
| Trichodental Dysplasia |
|
Brittle hair, Slow-growing hair, Odontodysplasia, Conical tooth, Fine hair, Hypodontia, Sparse hair |
OMIM:601453 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa |
OMIM:616760 |
| Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Anonychia With Flexural Pigmentation |
|
Abnormal hair morphology, Alopecia of scalp, Carious teeth |
ORPHA:69125 |
| Hypotrichosis 13 |
|
Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology |
OMIM:615896 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Atkin-Flaitz Syndrome |
|
Thick vermilion border, Everted lower lip vermilion, Maxillary lateral incisor microdontia, Abnor... |
ORPHA:1193 |
| Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Cataract, Abnormal eyelash morpholo... |
ORPHA:573 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
| Ectodermal Dysplasia 8, Hair/Tooth/Nail Type |
|
Sparse scalp hair, Irregular dentition, Macrodontia, Agenesis of permanent teeth, Aplasia/Hypopla... |
OMIM:602401 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Cataract, Abnormality of hair texture,... |
ORPHA:170 |
| Filippi Syndrome |
|
Serrated incisors, Thin vermilion border, Short philtrum, Hypodontia, Sparse hair, Microdontia, F... |
OMIM:272440 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Carious teeth, Patchy alopecia, Nail dystrophy, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
| Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
| Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth |
ORPHA:2027 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Alopecia, Yellow nails, Carious teeth, Conical incisor, Nail dystrophy, Enamel hypoplasia, Sparse... |
OMIM:614564 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
|
Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Hypodontia, Sparse h... |
OMIM:129490 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo... |
ORPHA:1808 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Premature graying of hair |
OMIM:190200 |
| Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
| Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... |
ORPHA:2972 |
| Rubinstein-Taybi Syndrome 2 |
|
Highly arched eyebrow, Micrognathia, Carious teeth, Talon cusp, Hirsutism, Dental malocclusion, N... |
OMIM:613684 |
| Kimura Disease |
|
Abnormal salivary gland morphology |
ORPHA:482 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Abnormal sweat gland morphology, Ab... |
OMIM:607823 |
| Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Sparse hair, Microdontia, Hypodontia, Fine hair |
ORPHA:1174 |
| Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Synophrys, Hirsutism, Gingival overgrowt... |
ORPHA:2026 |
| Galactosemia Iv |
|
Cataract |
OMIM:618881 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair, Tiger tail... |
OMIM:619692 |
| Hypertrichosis, Congenital Generalized |
|
Congenital, generalized hypertrichosis, Hirsutism |
OMIM:307150 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Macular hyperpigmented dermopathy, White forelock |
ORPHA:2779 |
| Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... |
OMIM:618729 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
|
Natal tooth |
OMIM:243185 |
| Teeth Present At Birth |
|
Natal tooth |
OMIM:187050 |
| Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
| Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome |
|
Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te... |
ORPHA:2891 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Alopecia of scalp |
OMIM:260910 |
| W Syndrome |
|
Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of the scalp hair... |
ORPHA:2804 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Cranioectodermal Dysplasia |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Taurodontia, Everted lower lip v... |
ORPHA:1515 |
| Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
| Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
| Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Salivary gland neoplasm, Cylindroma, Abnormality of the sublingual gland... |
ORPHA:79493 |
| Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Synophrys, Gingiv... |
ORPHA:2025 |
| Eem Syndrome |
|
Sparse scalp hair, Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious ... |
ORPHA:1897 |
| Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
| Thumb Deformity And Alopecia |
|
Solitary median maxillary central incisor, Alopecia |
OMIM:188150 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Acrokeratoderma, Hereditary Papulotranslucent |
|
Fine hair |
OMIM:101840 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... |
OMIM:602400 |
| Syndromic X-Linked Intellectual Disability 7 |
|
Tooth malposition, Abnormal dental morphology, Sparse body hair |
ORPHA:85274 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail |
OMIM:617294 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
| Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Highly arched eyebrow, Micrognathia, High, narrow palate, Incisor mac... |
ORPHA:166108 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair, Everted lower lip vermilion |
OMIM:278200 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thin upper lip vermilion, Widow's peak, Long philtrum, Sparse hair, Thick eyebrow |
OMIM:606242 |
| Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
| Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor |
OMIM:302350 |
| Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
| Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Cleft palate, Thin vermilion border, Long eyelashes, Narrow mouth, Incisor macrodontia, Long phil... |
OMIM:615502 |
| Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,... |
OMIM:129400 |
| Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Abnormality of the dentition, Fragile nails, Fine hair |
ORPHA:500166 |
| Hypotrichosis-Intellectual Disability, Lopes Type |
|
Sparse hair, Advanced eruption of teeth |
ORPHA:2266 |
| Polydactyly, Postaxial, Type A6 |
|
Abnormality of the nail, Abnormal sweat gland morphology |
OMIM:615226 |
| Pierre Robin Syndrome |
|
Glossoptosis, Pierre-Robin sequence, Cleft palate, Micrognathia |
OMIM:261800 |
| Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo |
OMIM:227010 |
| Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... |
OMIM:619947 |
| Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Carious teeth, Premature loss of teeth |
OMIM:161000 |
| Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
| Parc Syndrome |
|
Microretrognathia, Absent eyebrow, Alopecia, Absent eyelashes, Cleft palate |
OMIM:600331 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophrys, Pierre-Rob... |
ORPHA:364577 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Conical tooth, Aplasia of the sweat glands, Hypodontia, Sparse hair |
OMIM:612132 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal dental morphology, Abnormal fingernail morphology, Premature loss of primary teeth, Abno... |
ORPHA:1810 |
| Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth |
OMIM:184510 |
| Angioma Serpiginosum, X-Linked |
|
Sparse hair, Nail dystrophy, Fine hair |
OMIM:300652 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Brittle hair, Sparse eyelashes, Abnormality of the philtrum, Abnormality of hair texture, Sparse ... |
OMIM:225060 |
| Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
| Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Horner syndrome, Patchy... |
OMIM:141300 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Hyperconvex nail, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis |
OMIM:311895 |
| Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Intellectual Disability And Myopathy Syndrome |
|
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... |
OMIM:619719 |
| Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
| Mohr Syndrome |
|
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... |
OMIM:252100 |
| Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
| Heimler Syndrome 2 |
|
Beau's lines, Dental crowding, Leukonychia, Amelogenesis imperfecta |
OMIM:616617 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Sparse h... |
OMIM:305100 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Abnormal dental morphology, Everted lower lip vermilion, Fingernail dysplasia, Sparse h... |
ORPHA:2251 |
| Hypohidrosis With Abnormal Palmar Dermal Ridges |
|
Decreased number of sweat glands |
OMIM:241120 |
| Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
| Chand Syndrome |
|
Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi... |
ORPHA:1401 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair |
OMIM:234030 |
| Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
| Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
| Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
| Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
| Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
| Isolated Pierre Robin Syndrome |
|
Glossoptosis, Cleft palate, Micrognathia |
ORPHA:718 |
| Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri... |
OMIM:117850 |
| Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
| White Forelock With Malformations |
|
White forelock, Poliosis |
OMIM:277740 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Highly arched eyebrow, Diastema, Synophrys, Deep philtrum, Talon cusp, Cleft palate, Microdontia |
OMIM:605282 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Delayed eruption of teeth, Sparse scalp hair, Alopecia, Mandibular prognathia, Abnormal fingernai... |
ORPHA:2325 |
| Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Nail dystrophy, Enamel hypoplasia, Anonychia, ... |
ORPHA:79402 |
| Odontomicronychial Dysplasia |
|
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu... |
ORPHA:1811 |
| Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Abnormal dental morphology, Abnormality of the dentition, Carious teeth... |
ORPHA:69087 |
| Rothmund-Thomson Syndrome, Type 1 |
|
Absent eyebrow, Thin nail, Conical tooth, Absent eyelashes, Nail dystrophy, Sparse hair |
OMIM:618625 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe... |
OMIM:613573 |
| Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
| Stimmler Syndrome |
|
Microdontia, Abnormal dental enamel morphology |
ORPHA:3199 |
| X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... |
ORPHA:181 |
| Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Cataract-Deafness-Hypogonadism Syndrome |
|
Developmental cataract, Generalized hypertrichosis |
ORPHA:1383 |
| Orofaciodigital Syndrome Type 2 |
|
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Micrognathia, Unilateral alveolar... |
ORPHA:2751 |
| Alopecia Antibody Deficiency |
|
Abnormality of dental color, Abnormal eyelash morphology, Sparse hair, Sparse body hair, Aplasia/... |
ORPHA:1006 |
| Dermoodontodysplasia |
|
Mandibular prognathia, Sparse scalp hair, Tooth agenesis, Fingernail dysplasia, Trichodysplasia, ... |
ORPHA:1660 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Cataract, Corneal opacity, Hypopigmentation of hair, Aplasia/Hypoplasia of the iris, Pe... |
ORPHA:1067 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Downturned corners of mouth, Sparse hair, Distichiasis, ... |
ORPHA:79133 |
| Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
| Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Taurodonti... |
ORPHA:3214 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Sparse hair |
ORPHA:401911 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair |
OMIM:616099 |
| Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
| Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
| Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
| Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
| Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Highly arched eyebrow, Synophrys, Supernumerary tooth, Submucous cleft hard palate,... |
OMIM:617412 |
| Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613265 |
| Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
| Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Galactosemia Ii |
|
Cataract |
OMIM:230200 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Sparse body hair, Abnormal testis morphology, Pili torti, Apla... |
ORPHA:202 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Central heterochromia, Decreased response to growth hormone stimulation test, Long eyeb... |
OMIM:275400 |
| X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
| Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Abnormal dental e... |
ORPHA:3220 |
| Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Fair hair |
OMIM:618808 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... |
OMIM:150400 |
| Acrofacial Dysostosis, Palagonia Type |
|
Sparse eyelashes, Micrognathia, High, narrow palate, Supernumerary tooth, Low anterior hairline, ... |
ORPHA:1787 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Thick upper lip vermilion |
OMIM:227260 |
| Hypotrichosis 6 |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti |
OMIM:607903 |
| Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
| Schopf-Schulz-Passarge Syndrome |
|
Ridged nail, Narrow nail, Thin nail, Poroma, Onycholysis, Nail dystrophy, Hypodontia, Small nail,... |
OMIM:224750 |
| Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
| Variant Abeta2M Amyloidosis |
|
Intestinal perforation, Abnormal salivary gland morphology, Abnormality of the tongue |
ORPHA:314652 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Schöpf-Schulz-Passarge Syndrome |
|
Alopecia, Premature loss of primary teeth, Hypodontia, Sparse hair, Aplasia/Hypoplasia of the eye... |
ORPHA:50944 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 11 |
|
Woolly hair |
OMIM:610476 |
| Melkersson-Rosenthal Syndrome |
|
Furrowed tongue |
OMIM:155900 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
| Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
| Nance-Horan Syndrome |
|
Mandibular prognathia, Supernumerary tooth, Abnormality of the dentition |
ORPHA:627 |
| Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... |
ORPHA:3353 |
| Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Abnormal fingernail morphology, Supernumerary nipple, Absent e... |
ORPHA:1809 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Thin upper lip vermilion, Enamel hypoplasia |
OMIM:613576 |
| Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
| Oculocerebral Syndrome With Hypopigmentation |
|
Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
| Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
| Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin... |
ORPHA:251393 |
| Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ... |
ORPHA:59303 |
| Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi... |
OMIM:601957 |
| Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Enamel hypoplasia, Nail dystrophy |
OMIM:226700 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
| Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Enamel hypoplasia, Coarse hair, Hair shafts flattened at irregular interv... |
OMIM:261900 |
| Trichorhinophalangeal Syndrome, Type Iii |
|
Thin upper lip vermilion, Dental crowding, Supernumerary tooth, Long philtrum, Sparse hair, Smoot... |
OMIM:190351 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Epicanthus, Cataract, Hirsutism |
ORPHA:85288 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Carious teeth, Generalized hypoplasia of dental enamel, Alopecia |
OMIM:203550 |
| Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
| Naxos Disease |
|
Sparse scalp hair, Curly hair, Cleft upper lip, Abnormality of hair texture, Hyperhidrosis, Wooll... |
ORPHA:34217 |
| Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Widow's peak |
OMIM:101805 |
| Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Abnormality of p... |
OMIM:257980 |
| Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
| Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula |
OMIM:258850 |
| Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Synophrys, Downturned corners of mouth, Wide mouth, Everted lower lip v... |
OMIM:618067 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Pulp calcification, Taurodontia, Enamel hypoplasia |
OMIM:211900 |
| Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Hypoplasia of the max... |
OMIM:211380 |
| Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
| Spermatogenic Failure 81 |
|
Multiple non-erupting secondary teeth |
OMIM:620277 |
| Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
| 48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth... |
ORPHA:10 |
| Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
| Heimler Syndrome 1 |
|
Beau's lines, Enamel hypoplasia, Leukonychia, Amelogenesis imperfecta |
OMIM:234580 |
| Oxoglutaric Aciduria |
|
Abnormal salivary gland morphology |
ORPHA:31 |
| Holoprosencephaly 9 |
|
Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis of incisor, De... |
OMIM:610829 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Sparse hair, Alopecia, Long eyelashes, Abnormality of the dentition |
ORPHA:3363 |
| Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
| Immunodeficiency 33 |
|
Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
| Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
OMIM:157980 |
| 17Q11.2 Microduplication Syndrome |
|
Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Thin vermilion border, Malar... |
ORPHA:139474 |
| Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
| Maxillonasal Dysplasia, Binder Type |
|
Dental malocclusion |
OMIM:155050 |
| Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
| Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Abnormal palate morphology, Abnormality of the dentition |
ORPHA:3270 |
| Ectodermal Dysplasia 13, Hair/Tooth Type |
|
Brittle hair, Sparse eyelashes, Low anterior hairline, Oligodontia, Thick vermilion border, Thin ... |
OMIM:617392 |
| Ectodermal Dysplasia 10B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Everted upper lip vermilion, Sparse eyelashes, Conical tooth, Sparse eyebrow, Oligodontia, Thick ... |
OMIM:224900 |
| Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
| Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... |
OMIM:193510 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair... |
ORPHA:90368 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal hair quantity, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Distichiasis |
ORPHA:1997 |
| Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia |
OMIM:613382 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... |
ORPHA:363417 |
| Dental Anomalies And Short Stature |
|
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta, Oligodontia, Widely sp... |
OMIM:601216 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Cleft palate |
OMIM:600252 |
| Hypotrichosis 14 |
|
Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair |
OMIM:618275 |
| Uncombable Hair Syndrome 3 |
|
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi |
OMIM:617252 |
| Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Sparse eyelashes, Dental crowding, Micrognathia, Hypoplasia of the max... |
OMIM:257850 |
| Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor... |
ORPHA:113 |
| Metaphyseal Chondrodysplasia, Spahr Type |
|
Carious teeth, Abnormality of the dentition |
ORPHA:2501 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye... |
ORPHA:1433 |
| Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
|
Carious teeth, Enamel hypoplasia, Thick vermilion border, Sparse lateral eyebrow |
ORPHA:363523 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Abnormality of the... |
OMIM:129500 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
| Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... |
ORPHA:895 |
| Snijders Blok-Campeau Syndrome |
|
Enamel hypoplasia, Taurodontia, High palate, Widely spaced teeth |
OMIM:618205 |
| Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Epicanthus, Abnormality of hair texture, Micrognathia, Synophrys, Hypoplastic sweat glands, Denta... |
ORPHA:73223 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Albinism, Oculocutaneous, Type Vi |
|
Generalized hypopigmentation, Fair hair |
OMIM:113750 |
| Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest |
OMIM:172850 |
| Zimmermann-Laband Syndrome |
|
Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc... |
ORPHA:3473 |
| Hypotrichosis And Recurrent Skin Vesicles |
|
Sparse scalp hair, Sparse eyelashes, Angular cheilitis, Sparse axillary hair, Sparse eyebrow, Leu... |
OMIM:613102 |
| Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Hypodontia |
ORPHA:63442 |
| Trichorhinophalangeal Syndrome Type 1 |
|
Sparse eyelashes, Micrognathia, Sparse eyebrow, Abnormality of the dentition, Supernumerary tooth... |
ORPHA:77258 |
| Xq27.3Q28 Duplication Syndrome |
|
Thin vermilion border, Sparse body hair |
ORPHA:261483 |
| Trisomy 4P |
|
Thick eyebrow, Abnormal hair pattern, Abnormality of the dentition, Carious teeth, Low anterior h... |
ORPHA:1738 |
| Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
| Gand Syndrome |
|
Sparse hair, Thin upper lip vermilion, Wide mouth, Short philtrum |
OMIM:615074 |
| Flynn-Aird Syndrome |
|
Carious teeth, Alopecia, Alopecia of scalp |
OMIM:136300 |
| Amelocerebrohypohidrotic Syndrome |
|
Amelogenesis imperfecta, Abnormality of dental color, Abnormal dental enamel morphology, Yellow-b... |
ORPHA:1946 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Sparse hair, Coarse hair, Brittle hair, Carious teeth |
ORPHA:1883 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
ORPHA:2786 |
| Craniosynostosis 3 |
|
Low anterior hairline, Dental malocclusion |
OMIM:615314 |
| Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Fine hair, High palate, Sparse hair |
OMIM:615278 |
| Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock |
OMIM:601706 |
| Carvajal Syndrome |
|
Woolly hair |
ORPHA:65282 |
| Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... |
ORPHA:2885 |
| Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Cleft lip, Cleft palate, Nail dystrophy... |
ORPHA:2890 |
| Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Hypodontia, Small nail, Nail dysplasia, Sparse hair, High anterio... |
OMIM:119580 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Cranioectodermal Dysplasia 4 |
|
Thin vermilion border, Smooth philtrum, Taurodontia |
OMIM:614378 |
| Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Abnormal eyebrow morphology, Generalized hirsutism, Hypodontia |
ORPHA:1816 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Hypoplasia of teeth, N... |
OMIM:234050 |
| Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia |
ORPHA:2574 |
| Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
| Trichorhinophalangeal Syndrome Type 2 |
|
Sparse scalp hair, Thick eyebrow, Thin upper lip vermilion, Abnormality of the dentition, Supernu... |
ORPHA:502 |
| Ifap Syndrome 2 |
|
Cataract, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, Atrichia,... |
OMIM:619016 |
| Lelis Syndrome |
|
Mandibular prognathia, Yellow nails, Carious teeth, Absent lower eyelashes, Furrowed tongue, Nail... |
ORPHA:140936 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
| Cerebellofaciodental Syndrome |
|
Sparse eyebrow, Dental malocclusion, Fine hair, Taurodontia, Macrodontia of permanent maxillary c... |
OMIM:616202 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Slow-growing hair, Sparse hair, Blepharitis, Sparse body hair |
OMIM:618535 |
| Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities |
|
Sparse hair, High, narrow palate, Wide mouth, Downturned corners of mouth |
OMIM:273390 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Mandibular prognathia, Thin upper lip vermilion, Sparse eyebrow, Wide mouth, Sparse hair, Smooth ... |
OMIM:619989 |
| Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
| Sabinas Brittle Hair Syndrome |
|
Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Acrofacial Dysostosis, Weyers Type |
|
Abnormal fingernail morphology, Abnormality of the dentition, Conical tooth, Hypoplastic toenails... |
ORPHA:952 |
| Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta |
OMIM:605594 |
| Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Cleft soft palate, Micrognathia, Cryptorchidism, ... |
OMIM:154500 |
| Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Hypohidrosis, Dystrophic fingernails, Dys... |
ORPHA:1882 |
| Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta |
ORPHA:71267 |
| Acrootoocular Syndrome |
|
Delayed eruption of teeth, Micrognathia, Grayish enamel, High, narrow palate, Supernumerary tooth... |
ORPHA:2980 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Carious teeth, Nail dystrophy, Sparse hair, Premature loss of teeth, Oral leukoplakia |
OMIM:616353 |
| Odontomicronychial Dysplasia |
|
Premature eruption of permanent teeth, Short nail |
OMIM:601319 |
| Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, High palate, Dental malocclusion |
OMIM:618292 |
| Hypophosphatasia, Childhood |
|
Carious teeth, Premature loss of primary teeth |
OMIM:241510 |
| Pachyonychia Congenita 2 |
|
Sparse scalp hair, Dry hair, Natal tooth, Subungual hyperkeratosis, Angular cheilitis, Sparse eye... |
OMIM:167210 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia |
OMIM:129550 |
| Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
| Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Abnormal dental morphology, Abnormal dental enamel morphology, Highly arched eyebrow, M... |
ORPHA:3253 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... |
ORPHA:3019 |
| Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Abnormal dental enamel morphology, M... |
ORPHA:1452 |
| Uncombable Hair Syndrome 1 |
|
Uncombable hair, Dry hair, Pili canaliculi |
OMIM:191480 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Alveolar ridge overgrowth, Aplasia of the sweat glands, Premature loss of teeth, Tongue pain, Too... |
ORPHA:642 |
| Junctional Epidermolysis Bullosa Inversa |
|
Carious teeth, Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters |
ORPHA:79405 |
| Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... |
ORPHA:2409 |
| Pseudohypoaldosteronism Type 2 |
|
Abnormal dental enamel morphology, Abnormality of the dentition |
ORPHA:757 |
| Hawkinsinuria |
|
Sparse hair, Fine hair |
ORPHA:2118 |
| Bloom Syndrome |
|
Malar flattening, Agenesis of maxillary lateral incisor, Hypertrichosis |
OMIM:210900 |
| Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Macrodontia of perm... |
OMIM:216550 |
| Momo Syndrome |
|
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... |
ORPHA:2563 |
| Heyn-Sproul-Jackson Syndrome |
|
Sparse hair, Epicanthus |
OMIM:618724 |
| Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Malar flattening, Dental malocclusion, Widely spaced teeth |
OMIM:616108 |
| Trichothiodystrophy 8, Nonphotosensitive |
|
Thin upper lip vermilion, Sparse eyebrow, Long philtrum, Sparse hair, Woolly hair, Retrognathia, ... |
OMIM:619691 |
| Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
| Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
High, narrow palate, Sparse facial hair, Absent facial hair, Low posterior hairline |
ORPHA:2183 |
| Robin Sequence-Oligodactyly Syndrome |
|
Glossoptosis, Micrognathia, Cleft palate, Abnormality of the dentition |
ORPHA:3104 |
| Catel-Manzke Syndrome |
|
Highly arched eyebrow, Micrognathia, Cleft palate, Glossoptosis, Malar flattening, Oral synechia |
ORPHA:1388 |
| Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition |
ORPHA:1858 |
| Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Carious teeth, Scarring alopecia of scalp, Enamel hypoplasia, Nail dystrophy |
OMIM:226670 |
| 2Q32Q33 Microdeletion Syndrome |
|
Dental crowding, Micrognathia, Cleft palate, Fine hair, Oligodontia, Thin vermilion border, High ... |
ORPHA:251019 |
| Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Oligodontia, Everted lower lip vermilion, ... |
OMIM:614940 |
| Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
| Pfeiffer-Palm-Teller Syndrome |
|
Enamel hypoplasia |
ORPHA:2871 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Cryptorchidism, Tooth agene... |
ORPHA:2863 |
| Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
| Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Telecanthus, Sparse eyebrow, Abnormal soft p... |
ORPHA:884 |
| Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Supernumerary tooth, High palate, Persistence of primary teeth |
OMIM:619752 |
| Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Synophrys, Dental malocclusion |
OMIM:615541 |
| Ectodermal Dysplasia/Skin Fragility Syndrome |
|
Absent eyebrow, Absent eyelashes, Nail dystrophy, Sparse hair, Alopecia of scalp, Dystrophic fing... |
OMIM:604536 |
| Bazex-Dupre-Christol Syndrome |
|
Furrowed tongue, Hypohidrosis, Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrh... |
OMIM:301845 |
| Vulto-Van Silfhout-De Vries Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Widow's peak, Thick lower lip vermilion, Fine ... |
OMIM:615828 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Narrow palate, Short upper lip, Thick vermilion border, Short philtrum, Ma... |
ORPHA:364028 |
| Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, Abnormality of primary teeth, High palate, ... |
ORPHA:438216 |
| Progeroid Syndrome, Petty Type |
|
Mandibular prognathia, Brittle hair, Abnormal hair morphology, Tooth agenesis, Everted lower lip ... |
ORPHA:2963 |
| Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
| Inhalational Anthrax |
|
Abnormal sweat gland morphology |
ORPHA:247257 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C... |
OMIM:268305 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Carious teeth, Alopecia, Hypodontia |
OMIM:612079 |
| Whistling Face Syndrome, Recessive Form |
|
Telecanthus, Epicanthus, Micrognathia, Whistling appearance, Trismus, Long philtrum, High palate,... |
OMIM:277720 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Sparse hair |
ORPHA:2985 |
| Catifa Syndrome |
|
Delayed eruption of teeth, Epicanthus, Cleft lip, Cleft palate, Increased overbite, Long philtrum... |
OMIM:618761 |
| Oculodentodigital Dysplasia |
|
Dry hair, Slow-growing hair, Selective tooth agenesis, Cleft upper lip, Carious teeth, Cleft pala... |
OMIM:164200 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... |
ORPHA:659 |
| Bjornstad Syndrome |
|
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int... |
OMIM:262000 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Carious teeth, Synophrys, Malar flattening, Retrognathia, Abnormal palate morphology |
ORPHA:1390 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Carious teeth, Nail dystr... |
OMIM:612843 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormal hair pattern, Highly arched eyebrow, Downturned corners of mouth... |
ORPHA:1807 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Highly arched eyebrow, Carious teeth, Thick lower lip vermilion, Narrow palate, Narrow mouth |
ORPHA:457365 |
| Lessel-Kubisch Syndrome |
|
Sparse pubic hair, Premature graying of hair, Narrow mouth |
OMIM:618681 |
| Woolly Hair, Autosomal Dominant |
|
Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai... |
OMIM:194300 |
| Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... |
OMIM:104570 |
| Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency |
|
Furrowed tongue |
OMIM:165150 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Micrognathia, Open bite, Carious teeth, Low posterior hairline, Premature... |
ORPHA:2617 |
| Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Micrognathi... |
ORPHA:819 |
| Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Abnormal hair morphology, Supernumerary tooth, Thin vermilion border, Thick vermilion border, Mal... |
ORPHA:86818 |
| Weaver Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Thin nail, Micrognathia, Hypoplastic toenails, De... |
ORPHA:3447 |
| 48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96263 |
| Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Upper eyelid coloboma, Cleft palate, High pa... |
OMIM:619736 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Abnormal hair morphology, Cheilitis, Abnormality of the nail, Aplasi... |
ORPHA:129 |
| Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Synophrys, Supernumerary tooth, Widely spaced teeth, Hypodontia, Mic... |
ORPHA:90024 |
| Coffin-Siris Syndrome 2 |
|
Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Cryptorchid... |
OMIM:614607 |
| Late-Onset Junctional Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters |
ORPHA:79406 |
| Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Mandibular prognathia, Sparse scalp hair, Fine hair |
ORPHA:2324 |
| Silver-Russell Syndrome Due To 7P11.2P13 Microduplication |
|
Thin upper lip vermilion, Fine hair, Downturned corners of mouth, Hyperhidrosis, Long eyelashes, ... |
ORPHA:231137 |
| Temple-Baraitser Syndrome |
|
Tented upper lip vermilion, Hypoplastic thumbnail, Low anterior hairline, High palate, High anter... |
ORPHA:420561 |
| Glycosylphosphatidylinositol Biosynthesis Defect 25 |
|
Sparse hair, Coarse hair |
OMIM:619985 |
| Oslam Syndrome |
|
Carious teeth |
ORPHA:2760 |
| Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
| Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Conical tooth, Absent eyelash... |
OMIM:614941 |
| Restrictive Dermopathy |
|
Natal tooth, Telecanthus, Entropion, Short nail, Micrognathia, Sparse eyebrow, Aplasia/Hypoplasti... |
ORPHA:1662 |
| Trichothiodystrophy 7, Nonphotosensitive |
|
Tiger tail banding, Brittle hair |
OMIM:618546 |
| Waardenburg Syndrome, Type 4A |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:277580 |
| Albinism-Deafness Syndrome |
|
Patchy hypo- and hyperpigmentation, Piebaldism, Partial albinism, Albinism |
OMIM:300700 |
| Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Low anterior hairline, Hirsutism, Long eyelashes, Everted lower lip vermilion, Sparse hair, Thick... |
OMIM:616819 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Abnormal dental enamel morphology, Abnormal palate morphology, Fine hair |
ORPHA:3236 |
| Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Curly eyelashes, Abnormal hair pattern, Highly arched eyebrow, High, narrow palate, Wid... |
ORPHA:3051 |
| Anauxetic Dysplasia 2 |
|
Macroglossia, Hypodontia, Nail dysplasia, Small nail, Sparse hair |
OMIM:617396 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
| Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
| Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Down... |
ORPHA:2107 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Micrognathia, Thin vermilion border, Short philtrum, Sparse hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
| 49,Xxxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96264 |
| Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Chand Syndrome |
|
Curly hair, Commissural lip pit, Nail dysplasia |
OMIM:214350 |
| Oligodontia-Colorectal Cancer Syndrome |
|
Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Oligodontia, Short eyelashes, Sparse bod... |
OMIM:608615 |
| Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Abnormality of the dentition, Cleft upper lip, Hypoplastic nipples, Small nail, Sparse hair |
OMIM:273400 |
| Cerebellar-Facial-Dental Syndrome |
|
Micrognathia, Sparse eyebrow, Dental malocclusion, Alveolar ridge overgrowth, Fine hair, Taurodon... |
ORPHA:444072 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Premature graying of hair, Heterochromia iridis |
ORPHA:66633 |
| Trichothiodystrophy 5, Nonphotosensitive |
|
Mandibular prognathia, Brittle hair, Slow-growing hair, Sparse eyebrow, Wide mouth, Reduced hair ... |
OMIM:300953 |
| Hereditary Mucoepithelial Dysplasia |
|
Alopecia, Cataract, Corneal dystrophy, Fine hair, Sparse hair |
ORPHA:1839 |
| Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Epicanthus, Dental crowding, Highly arched eyebrow, Persistence of primary teeth, Micrognathia, T... |
OMIM:618342 |
| Craniofrontonasal Dysplasia |
|
Abnormality of hair texture, Abnormality of the dentition, Widow's peak, Orofacial cleft, Low pos... |
ORPHA:1520 |
| Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
| Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... |
OMIM:172800 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Sparse scalp hair, Thin upper lip vermilion, Highly arched eyebrow, Microg... |
OMIM:619841 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of ... |
ORPHA:50814 |
| Oculodentodigital Dysplasia |
|
Mandibular prognathia, Curly hair, Brittle hair, Slow-growing hair, Abnormal dental enamel morpho... |
ORPHA:2710 |
| Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
| Hypophosphatasia, Adult |
|
Carious teeth, Premature loss of permanent teeth, Premature loss of primary teeth |
OMIM:146300 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
| Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelid morphology, Fine hair, Ova... |
ORPHA:2221 |
| Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... |
OMIM:602483 |
| Trichorhinophalangeal Syndrome, Type I |
|
Delayed eruption of teeth, Thin upper lip vermilion, Slow-growing hair, Thin nail, Micrognathia, ... |
OMIM:190350 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Carious teeth, Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters |
ORPHA:79411 |
| Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hyp... |
OMIM:616367 |
| Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
| Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Upslanted palpebral fissure, Abnormal palat... |
ORPHA:3241 |
| Cardiocranial Syndrome, Pfeiffer Type |
|
Micrognathia, Abnormal hair whorl, High, narrow palate, Temporomandibular joint ankylosis, Sparse... |
ORPHA:2872 |
| Erythrokeratodermia Variabilis Et Progressiva 7 |
|
Woolly hair, Anhidrosis, Dystrophic toenail |
OMIM:619209 |
| Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Enamel hypoplasia, Nail dystrophy, Hypodontia |
OMIM:616029 |
| Hypotrichosis With Juvenile Macular Degeneration |
|
Sparse scalp hair, Brittle hair, Pili torti, Fine hair |
ORPHA:1573 |
| Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
| Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Cataract, Poliosis, Abnormal eyelash morphology, ... |
ORPHA:3437 |
| Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Ptosis, Thick eyebrow, Cleft palate, Wide mouth, Macroglossia, Delayed eruptio... |
OMIM:614608 |
| Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
| Rodrigues Blindness |
|
Sparse hair, Tooth malposition, Fine hair |
OMIM:268320 |
| Fanconi Anemia, Complementation Group S |
|
Macrodontia, Low anterior hairline, Dental malocclusion, Narrow palate, Long eyelashes, Sparse ha... |
OMIM:617883 |
| Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
| Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
| Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Enamel hypomineralization |
ORPHA:494444 |
| Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth |
OMIM:620099 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia |
ORPHA:466722 |
| Congenital Short Bowel Syndrome |
|
Sparse hair |
ORPHA:2301 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Microretrognathia, Micrognathia, Carious teeth, Pierre-Robin sequence, Cle... |
OMIM:618363 |
| Auriculocondylar Syndrome 3 |
|
Micrognathia, Glossoptosis, Retrognathia, Bifid uvula, Ectropion |
OMIM:615706 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Dental malocclusion, Torus palatinus |
OMIM:144750 |
| Muir-Torre Syndrome |
|
Colon cancer, Adenoma sebaceum, Neoplasm of the stomach, Salivary gland neoplasm |
ORPHA:587 |
| Braddock-Carey Syndrome 1 |
|
Curly hair, Pierre-Robin sequence, Cleft palate, Thick vermilion border, Everted lower lip vermil... |
OMIM:619980 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nip... |
ORPHA:1071 |
| Igg4-Related Submandibular Gland Disease |
|
Enlarged lacrimal glands, Abnormal pancreas morphology, Xerostomia, Enlargement of parotid gland,... |
ORPHA:449432 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Everted lower lip vermilion, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:242300 |
| Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
| Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
| Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
| Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Fine hair |
OMIM:272300 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Carious teeth, Deep philtrum, Thick lower lip vermilion, Low posterior hairlin... |
ORPHA:2701 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Cataract, Sparse eyelashes, Sparse eyebrow, Nail dysplasia |
OMIM:615704 |
| Acrogeria |
|
Micrognathia, Fine hair |
ORPHA:2500 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Nail dystrophy, Cataract, Alopecia totalis |
ORPHA:1366 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Epicanthus, Cataract, Sparse body hair |
ORPHA:177 |
| Griscelli Syndrome Type 1 |
|
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation |
ORPHA:79476 |
| Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Mandibular prognathia, Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Sp... |
OMIM:620001 |
| Aredyld Syndrome |
|
Mandibular prognathia, Smooth philtrum, Craniofacial hyperostosis, Abnormal dental enamel morphol... |
ORPHA:1133 |
| Prader-Willi Syndrome Due To Imprinting Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177910 |
| Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Carious teeth, Hypoplasia of teeth |
OMIM:613312 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Brittle hair, High palate |
ORPHA:50812 |
| Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Slow-growing hair, Micrognathia, Abnormal hair morphology, Abnormal palate... |
ORPHA:3082 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Carious teeth, Cleft palate, Everted lower lip vermil... |
ORPHA:2316 |
| Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Abnormality of the dentiti... |
ORPHA:1775 |
| Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis |
|
Leukonychia, Tooth agenesis, Nail dystrophy, Woolly hair, Fragile nails, Gingival recession |
OMIM:615821 |
| Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy |
|
Anterior cervical hypertrichosis |
OMIM:239840 |
| Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Wide mouth, High palate, Long ... |
OMIM:618825 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Epicanthus, Sparse eyelashes, Decreased response to growth hormone st... |
OMIM:615280 |
| Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Tented upper lip vermilion, Micrognathia, Synophrys, Low posterior hairline, Downturned corners o... |
OMIM:619320 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:604292 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Absent eyelashes... |
OMIM:106260 |
| Leopard Syndrome 2 |
|
Mandibular prognathia, Curly hair, Thick lower lip vermilion |
OMIM:611554 |
| Poirier-Bienvenu Neurodevelopmental Syndrome |
|
Mandibular prognathia, Protruding tongue, Downturned corners of mouth, Open mouth, Smooth philtrum |
OMIM:618732 |
| Even-Plus Syndrome |
|
Highly arched eyebrow, Synophrys, High palate, Hypodontia, Sparse hair |
OMIM:616854 |
| Ellis Van Creveld Syndrome |
|
Abnormal hair quantity, Delayed eruption of teeth, Abnormal fingernail morphology, Abnormal oral ... |
ORPHA:289 |
| Marshall Syndrome |
|
Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermilion, Pierre-Robin s... |
OMIM:154780 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Fine hair, Microcornea... |
ORPHA:1806 |
| Autosomal Dominant Otospondylomegaepiphyseal Dysplasia |
|
Micrognathia, Cleft palate, Glossoptosis, Long philtrum, Malar flattening |
ORPHA:166100 |
| Eec Syndrome |
|
Slow-growing hair, Abnormal dental enamel morphology, Sparse eyebrow, Carious teeth, Orofacial cl... |
ORPHA:1896 |
| Beaulieu-Boycott-Innes Syndrome |
|
Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, High anterior hai... |
OMIM:613680 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Narrow mouth, Synophrys, Narrow palate, Fine hair, Hypoplasia of teeth, Wide mouth,... |
OMIM:620250 |
| Jalili Syndrome |
|
Carious teeth, Yellow-brown discoloration of the teeth, Enamel agenesis |
OMIM:217080 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Cheilitis, Alopecia universalis |
OMIM:619208 |
| Intellectual Developmental Disorder, Autosomal Recessive 5 |
|
Smooth philtrum, Synophrys, Short philtrum, Sparse hair, Thick upper lip vermilion, Thick eyebrow |
OMIM:611091 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Synophrys, Coarse hair, Widely spaced teeth, Smooth philtrum |
OMIM:616351 |
| Methionine Malabsorption Syndrome |
|
White hair, Blue irides |
OMIM:250900 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Brittle hair, Abnormality of hair texture, Carious teeth, Coarse hair, High palate, Narrow mouth,... |
OMIM:219200 |
| Tonne-Kalscheuer Syndrome |
|
Micrognathia, Concave nail, Velopharyngeal insufficiency, Fine hair, Downturned corners of mouth,... |
OMIM:300978 |
| Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:614072 |
| Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
| Darier-White Disease |
|
Enlargement of parotid gland, Ridged nail, Subungual hyperkeratotic fragments |
OMIM:124200 |
| Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Anal stenosis, Anterior pituitary hypoplasia, Sparse axillary hair, ... |
OMIM:181450 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Selective tooth agenesis, Micrognathia, High, narrow palate, Supernumerary tooth, De... |
OMIM:234100 |
| Papillon-Lefèvre Syndrome |
|
Severe periodontitis, Abnormal fingernail morphology, Premature loss of primary teeth, Abnormalit... |
ORPHA:678 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Accessory oral frenulum, Hypoplasia of teeth |
ORPHA:88630 |
| Albinism-Deafness Syndrome |
|
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... |
ORPHA:998 |
| Lacrimoauriculodentodigital Syndrome 2 |
|
Carious teeth, Microdontia, Hypodontia, Conical tooth |
OMIM:620192 |
| Amaurosis-Hypertrichosis Syndrome |
|
Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow |
ORPHA:1021 |
| Schimke Immuno-Osseous Dysplasia |
|
Microdontia, Abnormal primary molar morphology, Hypodontia |
ORPHA:1830 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Corneal opacity, Abnormal hair morphology, Abnormality of the nail, Abnormal ... |
ORPHA:317 |
| Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Abnormal fingernail morphology, Open bite, Den... |
ORPHA:3079 |
| Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Curly hair, Curly eyelashes, Multiple rows of eyelashes, Narrow philtrum, Thick lower lip vermili... |
ORPHA:163654 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Curly hair, Thin upper lip vermilion, Tented upper lip vermilion, Sparse eyebrow, Synophrys, Thic... |
OMIM:620075 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Corneal opacity, Nail dystrophy, Opacification of the corneal stroma, N... |
OMIM:614594 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Smooth philtrum, Delayed eruption of teeth, Gingival overgrowth, Narrow palate, Conical incisor, ... |
OMIM:235510 |
| Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Epicanthus, Dental crowding, Broad philtrum, Macroglossia, High palate... |
OMIM:616354 |
| Fg Syndrome 3 |
|
Sparse hair, Frontal upsweep of hair, Fine hair |
OMIM:300406 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Delayed eru... |
OMIM:268400 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Sparse pubic hair, Cryptorchidism, Decreased testicular size, Sparse axillary hair |
OMIM:146110 |
| Cataract-Intellectual Disability-Hypogonadism Syndrome |
|
Micrognathia, Cryptorchidism, Low posterior hairline, Furrowed tongue, High palate, Short philtru... |
ORPHA:1387 |
| Orofaciodigital Syndrome I |
|
Microretrognathia, Median cleft lip, Hamartoma of tongue, Cleft upper lip, Carious teeth, Supernu... |
OMIM:311200 |
| Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Hypoplasia of the maxilla, Sparse facial hair, Sparse axillary hair |
OMIM:608154 |
| Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
| Qazi-Markouizos Syndrome |
|
High, narrow palate, Open mouth, Broad philtrum, Hypoplasia of teeth |
ORPHA:3010 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
| Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
| Distal Duplication 6P |
|
Abnormal hair quantity, Micrognathia, Abnormal eyelash morphology, Fine hair, Thin vermilion bord... |
ORPHA:1745 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormal hair morphology, Synophrys, Wh... |
ORPHA:894 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Palpebral edema, Enlarged lacrimal glands, Xerostomia, Abnormality of the orbital region, Enlarge... |
ORPHA:79078 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Oligodontia, Hypodontia, Sparse hair, Ena... |
OMIM:607626 |
| Usher Syndrome Type 2 |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:231178 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Epicanthus, Exaggerated cupid's bow, Wide mouth, Delayed eruption of permanent teeth, Thick vermi... |
OMIM:618506 |
| Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Selective tooth agenesis, Abnormali... |
ORPHA:2909 |
| Char Syndrome |
|
Supernumerary nipple, Persistence of primary teeth, No permanent dentition, Short philtrum, Thick... |
ORPHA:46627 |
| Duplication Of The Pituitary Gland |
|
Supernumerary tooth, Abnormality of the tongue, Cleft palate, Wide mouth, Retrognathia |
ORPHA:314621 |
| Hallermann-Streiff Syndrome |
|
Natal tooth, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Micrognathi... |
ORPHA:2108 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Epicanthus, Telecanthus, Highly arched eyebrow, Open bite, Synophrys, Abno... |
ORPHA:1327 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Coarse hair, Everted lower lip vermilion, Nail dystrophy, Long philtrum |
ORPHA:75389 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Hypogeusia, Furrowed tongue, Dyst... |
ORPHA:2930 |
| Igg4-Related Thyroid Disease |
|
Pancreatic fibrosis, Abnormal pituitary gland morphology, Euthyroid goiter, Abnormality of the oc... |
ORPHA:64744 |
| Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
| Lamellar Ichthyosis |
|
Abnormality of the dentition, Everted lower lip vermilion, Sparse hair, Abnormality of the nail, ... |
ORPHA:313 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Sparse hair, Cataract, Developmental cataract |
OMIM:610756 |
| Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Abnormal dental enamel morphology |
ORPHA:2238 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Furrowed tongue, Ptosis |
ORPHA:2743 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Thin upper lip vermilion, Micrognathia, Synophrys, Low anterior hairline, Fine hair, Downturned c... |
ORPHA:391408 |
| Distal Duplication 18Q |
|
Abnormal dental morphology, Abnormal hair pattern, Micrognathia, Carious teeth, High palate |
ORPHA:1716 |
| Cleidocranial Dysplasia 1 |
|
Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, narrow palate, Sup... |
OMIM:119600 |
| Cardiofaciocutaneous Syndrome 3 |
|
Wide mouth, Curly hair, Hyperhidrosis |
OMIM:615279 |
| Hypomelanosis Of Ito |
|
Epicanthus, Alopecia, Cataract, Iris coloboma |
OMIM:300337 |
| Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Smooth philtrum, Abnormal hair pattern, Abnormality of the dentition, Carious ... |
ORPHA:1786 |
| Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Bifid... |
ORPHA:2363 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Cryptorchidism, Thick lower lip vermilion, Frontal upsweep of hair, Wi... |
OMIM:619797 |
| Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
| Burning Mouth Syndrome |
|
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... |
ORPHA:353253 |
| Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Downslanted palpebral fissures, Posteriorly placed tongue, Pierre-Ro... |
OMIM:192445 |
| 19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Fine hair, Wide mouth, Sparse or absent eyelashes, Thin vermilion border, S... |
ORPHA:217346 |
| Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Microgna... |
OMIM:265800 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Mandibular prognathia, Hirsutism |
OMIM:618087 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Abnormal dental morphology, Abnormality of the dentit... |
ORPHA:978 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Nail dystrophy, Amelogenesis imperfecta |
OMIM:245660 |
| 9q subtelomeric deletion syndrome |
|
Synophrys, Protruding tongue |
DECIPHER:52 |
| Ohdo Syndrome |
|
Micrognathia, Sparse eyebrow, Hypoplasia of teeth, Thin vermilion border, Widely spaced teeth, Na... |
OMIM:249620 |
| Igg4-Related Ophthalmic Disease |
|
Sinusitis, Palpebral edema, Abnormal morphology of bony orbit of skull, Abnormal eyelid morpholog... |
ORPHA:449563 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Calvarial Doughnut Lesions With Bone Fragility |
|
Carious teeth |
OMIM:126550 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Sparse scalp hair, Alopecia, Absent eyebrow, Palpebral edema, Absent eyelashes, Hydrocele testis,... |
ORPHA:69735 |
| Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Micrognathia, Fine hair, Downturned corners of mouth, Oligodontia, Narrow mouth, Sparse hair |
OMIM:616817 |
| Trichohepatoenteric Syndrome 2 |
|
Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa |
OMIM:614602 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Alopecia, Abnormality of the dentition, Conical tooth, Fine hair, Broad philtrum |
ORPHA:228390 |
| Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
| Trichothiodystrophy 6, Nonphotosensitive |
|
Tiger tail banding, Brittle hair, Slow-growing hair |
OMIM:616943 |
| Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Thin vermilion border, Sparse body hair |
OMIM:300869 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Short Syndrome |
|
Alopecia, Abnormal dental enamel morphology, Abnormality of the dentition, Abnormal zygomatic bon... |
ORPHA:3163 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
| Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
| Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Micrognathia, Open bite, Abnormality of the ... |
ORPHA:1507 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus, Low anterior h... |
ORPHA:2095 |
| Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Brittle hair, Carious teeth, Eclabion, Tiger tail banding, Trichorrhexis nodosa |
OMIM:616395 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Micrognathia, Sparse eyebrow, Carious teeth, Thin vermilion border, Short philt... |
OMIM:613026 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic thumbnail, Micrognathia, Hypoplastic toenails, Hypoplastic fifth fingernail, Delayed ... |
OMIM:619356 |
| Myasthenic Syndrome, Congenital, 10 |
|
Tongue atrophy, Ptosis |
OMIM:254300 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 12 |
|
Woolly hair |
OMIM:611528 |
| Xp22.13P22.2 Duplication Syndrome |
|
Sparse hair, High anterior hairline, High palate, Mandibular prognathia |
ORPHA:284180 |
| Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, ... |
OMIM:618021 |
| Bathing Suit Ichthyosis |
|
Sparse hair, Alopecia, Nail dystrophy, Eclabion |
ORPHA:100976 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Peeling Skin Syndrome 1 |
|
Palmoplantar hyperhidrosis, Brittle hair, Onycholysis, Nail dystrophy |
OMIM:270300 |
| Pachyonychia Congenita |
|
Natal tooth, Alopecia, Angular cheilitis, Paronychia, Onychogryposis of toenails, Nail dystrophy,... |
ORPHA:2309 |
| Orofaciodigital Syndrome Xix |
|
Epicanthus, Cleft soft palate, Accessory oral frenulum, Carious teeth, Retrognathia, Narrow palat... |
OMIM:620107 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Monosomy 18P |
|
Alopecia, Micrognathia, Carious teeth, Cleft palate, Low posterior hairline, Downturned corners o... |
ORPHA:1598 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Congenital abnormal hair pattern, Corneal opacity, Cryptorchidism, Atrichia, ... |
ORPHA:1867 |
| Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of hair texture, Abnormality of the dentiti... |
ORPHA:2752 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma |
OMIM:120433 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Low anterior hairlin... |
OMIM:619244 |
| Noonan Syndrome 5 |
|
Mandibular prognathia, Curly hair, Sparse eyebrow, Fine hair, Wide mouth, Thick vermilion border,... |
OMIM:611553 |
| Baralle-Macken Syndrome |
|
Upslanted palpebral fissure, Cataract, Hirsutism |
OMIM:619255 |
| Cardiospondylocarpofacial Syndrome |
|
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth |
ORPHA:3238 |
| Obesity Due To Prohormone Convertase I Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71528 |
| Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Red hair, Hypopigmentation of the skin |
ORPHA:71526 |
| Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
| Osteogenesis Imperfecta, Type Xx |
|
Mandibular prognathia, Tented upper lip vermilion, Highly arched eyebrow, Narrow palate, Agenesis... |
OMIM:618644 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short lingual frenulum, Short uvula, Cleft palate, Fine hair, Agenesis of permanent teeth, Fused ... |
OMIM:614091 |
| Lacrimoauriculodentodigital Syndrome 3 |
|
Absent eyelashes, Enamel hypoplasia, Carious teeth, Widely spaced teeth |
OMIM:620193 |
| Hennekam Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Supernume... |
ORPHA:2136 |
| Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Epicanthus, Cleft upper lip, Abnormality of the dentition, Cryptorchid... |
ORPHA:915 |
| Noonan Syndrome 6 |
|
Curly hair, Epicanthus, Long eyebrows, Cryptorchidism, Bilateral ptosis, Low posterior hairline, ... |
OMIM:613224 |
| Barber-Say Syndrome |
|
Delayed eruption of teeth, Ablepharon, Telecanthus, Wide mouth, Sparse or absent eyelashes, Breas... |
ORPHA:1231 |
| Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411515 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Brittle hair, Dental crowding, Micrognathia, Hypoplasia of teeth, High palate, Narrow m... |
OMIM:608612 |
| Flynn-Aird Syndrome |
|
Carious teeth, Alopecia |
ORPHA:2047 |
| Familial Adenomatous Polyposis 1 |
|
Eruption failure, Supernumerary tooth, Carious teeth, Odontoma |
OMIM:175100 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
| Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
| Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
| Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Micrognathia, Abnormal tongue morphology, Hypoplasia of teeth, High pa... |
ORPHA:2457 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Sparse scalp hair, Hypoplastic fifth toenail, Decreased response to gr... |
OMIM:615866 |
| Costello Syndrome |
|
Deep-set nails, Abnormal fingernail morphology, Abnormal dental enamel morphology, Abnormality of... |
ORPHA:3071 |
| Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Sparse scalp hair, Epicanthus, Natal tooth, Sparse eyelashes, Micrognathia, Sparse eyebrow, Hypop... |
OMIM:616901 |
| Lipoid Proteinosis |
|
Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower lip vermilion, Tongue no... |
ORPHA:530 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cataract, Blepharophimosis, Cryptorchidism, Sparse hair, Decreased testicular size, Thick eyebrow... |
ORPHA:127 |
| Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
| Autosomal Dominant Robinow Syndrome |
|
Median cleft lip and palate, Micrognathia, Open bite, High, narrow palate, Abnormality of the gin... |
ORPHA:3107 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Abnormal dental enamel morphology, Supernumerary nipple, Cleft palate, Fine hair, Aplastic/hypopl... |
ORPHA:1812 |
| Hypoglossia-Hypodactylia |
|
Epicanthus, Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia |
OMIM:103300 |
| Chime Syndrome |
|
Abnormal dental morphology, Abnormality of the dentition, Supernumerary tooth, Cleft palate, Shor... |
ORPHA:3474 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Ridged nail, Alopecia, Supernumerary nipple, Conical tooth, Nail pits,... |
OMIM:308300 |
| Peters-Plus Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Bilateral cleft lip, Exaggerated cupid's bow, C... |
OMIM:261540 |
| Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo... |
ORPHA:1110 |
| Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
| Melioidosis |
|
Abnormal parotid gland morphology, Parotitis |
ORPHA:31202 |
| Glass Syndrome |
|
Dental crowding, Conical tooth, Micrognathia, Pierre-Robin sequence, Gingival overgrowth, Cleft p... |
OMIM:612313 |
| Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Carious teeth |
OMIM:612714 |
| Androgen Insensitivity Syndrome |
|
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... |
OMIM:300068 |
| Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Carious teeth, Absent paranasal sinuses, Hig... |
OMIM:269300 |
| Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism |
|
Sparse hair, Subcapsular cataract, Polycystic ovaries |
OMIM:268020 |
| Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Carious teeth, Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters |
ORPHA:79409 |
| Al Amyloidosis |
|
Macroglossia, Abnormal salivary gland morphology, Xerostomia |
ORPHA:85443 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Epicanthus, Micrognathia, Pierre-Robin sequence, Narrow palpebral fissu... |
OMIM:613604 |
| Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Carious teeth, Cleft palate, H... |
OMIM:607812 |
| Fetal Hydantoin Syndrome |
|
Cleft palate, Low posterior hairline, Wide mouth, Coarse hair, Everted lower lip vermilion, Hypop... |
ORPHA:1912 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skin Abnormalities |
|
Elbow hypertrichosis, Thin upper lip vermilion, Carious teeth, High palate, Long eyelashes, Long ... |
OMIM:620191 |
| Ermine Phenotype |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... |
ORPHA:999 |
| Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Thin upper lip vermilion, Micrognathia, Fine hair, Wide mouth, Widely-spaced maxillary central in... |
ORPHA:363686 |
| Mucopolysaccharidosis, Type Iiic |
|
Synophrys, Coarse hair, Everted lower lip vermilion, Hirsutism, Hypertrichosis |
OMIM:252930 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Tooth agenesis, Nail dystrophy, Woolly hair |
OMIM:605676 |
| Marshall Syndrome |
|
Sparse eyelashes, Micrognathia, Hypoplasia of the maxilla, Sparse eyebrow, Abnormality of the den... |
ORPHA:560 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Curly eyelashes, Concave nail, Sparse pubic hair, ... |
OMIM:258360 |
| Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Submucous cleft hard palate, Low anterior hairline, Abnormal mandible morpho... |
ORPHA:3201 |
| Cataract 48 |
|
Cataract |
OMIM:618415 |
| Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
| Giant Axonal Neuropathy |
|
Woolly hair, Pili canaliculi |
ORPHA:643 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair, Dental crowding, Pierre-Robin sequence, Cleft palate, Oligodontia, Thick vermilion ... |
OMIM:619184 |
| Shukla-Vernon Syndrome |
|
Sparse hair, Downslanted palpebral fissures |
OMIM:301029 |
| Scarf Syndrome |
|
Low posterior hairline, Hypoplastic nipples, Long philtrum, Sparse hair, Enamel hypoplasia, Hypoc... |
ORPHA:3134 |
| Chromosome 5P13 Duplication Syndrome |
|
Epicanthus, Blepharophimosis, Low posterior hairline, Upslanted palpebral fissure, Astigmatism, L... |
OMIM:613174 |
| Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Malar flattening, Dental malocclusion, Micrognathia |
OMIM:608257 |
| Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Tented upper lip vermilion, High palate, Short philtrum, Long philtrum, Sparse hair |
OMIM:614105 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Tongue atrophy, Tongue fasciculations |
OMIM:613435 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Abnormal dental enamel morphology |
ORPHA:257 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Hypoparathyroidism, Telecanthus, Cataract, Hypertrichosis, Ptosis |
OMIM:247410 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Mandibular prognathia, Macrodontia, Protruding tongue, Diastema, Hirsutism, Gingival overgrowth, ... |
OMIM:212066 |
| Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Synophrys, Gingival overgrowth, Fine hair, Long philtrum, Smooth philtrum |
OMIM:619428 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Nuclear catarac... |
ORPHA:1010 |
| Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Triangular mouth, Fine hair, Fragile nails, Nail dystrophy, Small na... |
OMIM:601675 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hair texture, Abnorma... |
ORPHA:96169 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card... |
OMIM:620135 |
| Hypohidrotic Ectodermal Dysplasia With Immunodeficiency |
|
Sparse hair, Nail dystrophy, Recurrent sinusitis, Conical tooth |
ORPHA:98813 |
| Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
| Schwartz-Jampel Syndrome |
|
Pursed lips, Micrognathia, Trismus, Supernumerary tooth, Dental malocclusion, Cleft palate, Odont... |
ORPHA:800 |
| Ruijs-Aalfs Syndrome |
|
Premature graying of hair, Sparse hair, Micrognathia |
OMIM:616200 |
| Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
| Hamamy Syndrome |
|
Thin upper lip vermilion, Sparse eyelashes, Micrognathia, Sparse eyebrow, Dental malocclusion, Lo... |
OMIM:611174 |
| Acrodermatitis Enteropathica |
|
Glossitis, Abnormal eyebrow morphology, Alopecia, Ridged nail, Abnormal eyelid morphology, Malabs... |
ORPHA:37 |
| Desbuquois Syndrome |
|
Sparse hair, Abnormal eyelash morphology |
ORPHA:1425 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Sparse hair, Hyperconvex nail, Mandibular prognathia, Long philtrum |
OMIM:619721 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Delayed... |
OMIM:149730 |
| Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
| Cranioectodermal Dysplasia 3 |
|
Short nail, Micrognathia, Broad nail, Fine hair, Hypoplasia of teeth, Widely spaced teeth, Everte... |
OMIM:614099 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Onychauxis, High palate, Advanced eruption of teeth, Hypertrichosis |
OMIM:262190 |
| Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
| Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... |
OMIM:618727 |
| Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
| Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Gingival overgrowth, Wide mouth, Thick vermilio... |
ORPHA:137834 |
| Copper Deficiency, Familial Benign |
|
Curly hair, Early balding |
OMIM:121270 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Carious teeth, Nail pits, Premature graying of hair, Nail dystrophy, Spars... |
OMIM:127550 |
| Chondrodysplasia Punctata, Autosomal Dominant |
|
Sparse hair, Coarse hair, Hypoplasia of the nasal bone |
OMIM:118650 |
| Adult Syndrome |
|
Sparse scalp hair, Premature loss of permanent teeth, Absent nipple, Fair hair, Sparse axillary h... |
OMIM:103285 |
| Temtamy Syndrome |
|
Dental crowding, Highly arched eyebrow, Micrognathia, Hypoplasia of teeth, Long philtrum |
OMIM:218340 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Curly hair, Obtuse angle of mandible, Micrognathia, High palate, Malar flattening |
ORPHA:85184 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Sparse eyebrow, Narrow mouth, Brittle hair, Micrognathia |
OMIM:618810 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Carious teeth, Glossoptosis, Micrognathia |
ORPHA:93346 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Sparse hair, Thin upper lip vermilion, Patchy alopecia, Long philtrum |
OMIM:617763 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Sparse hair, Alopecia, Abnormal dental enamel morphology, Abnormal toenail morphology |
ORPHA:1005 |
| Macs Syndrome |
|
Eclabion, Irregular dentition, Alopecia, Micrognathia, Sparse eyebrow, Gingival overgrowth, High ... |
OMIM:613075 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Opacification of the corne... |
OMIM:158310 |
| Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Micrognathia, Carious teeth, Trismus, High palate, Narrow mouth, Retrognathia, Long philtrum |
OMIM:272430 |
| Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, A... |
ORPHA:534 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Smooth philtrum, Curly hair, Thin upper lip vermilion, Short lingual frenulum, Highly arched eyeb... |
OMIM:617360 |
| Gardner Syndrome |
|
Odontoma, Multiple unerupted teeth, Supernumerary tooth, Abnormality of the dentition |
ORPHA:79665 |
| Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Carious teeth, Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters |
ORPHA:79410 |
| Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
| Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
| Insulin-Resistance Syndrome Type B |
|
Alopecia, Enlarged ovaries, Enlarged polycystic ovaries, Polycystic ovaries, Abnormal salivary gl... |
ORPHA:2298 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Downturned corners of mouth, Coarse hair, Thick vermilion border |
ORPHA:1185 |
| Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Intestinal malrotation, Highly arched eyebrow, Abnormality of the dent... |
ORPHA:2712 |
| Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair |
OMIM:309400 |
| Cahmr Syndrome |
|
Lamellar cataract, Generalized hypertrichosis |
OMIM:211770 |
| Smith-Kingsmore Syndrome |
|
Curly hair, Thin upper lip vermilion, Wide mouth, Long philtrum, Open mouth, Smooth philtrum |
OMIM:616638 |
| Nablus Mask-Like Facial Syndrome |
|
Thin upper lip vermilion, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, ... |
OMIM:608156 |
| Smith-Lemli-Opitz Syndrome |
|
Abnormal dental morphology, Abnormal dental enamel morphology, Micrognathia, Supernumerary tooth,... |
ORPHA:818 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Alopecia, Conjunctivitis, Sparse hair, Fragile nails |
OMIM:242150 |
| Ane Syndrome |
|
Carious teeth, Alopecia, Premature loss of teeth, Hypodontia |
ORPHA:157954 |
| Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat... |
OMIM:209885 |
| Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Cataract |
OMIM:601811 |
| Arthrogryposis, Distal, Type 5D |
|
Tongue atrophy, Highly arched eyebrow, Lagophthalmos, Micrognathia, Cleft palate, Furrowed tongue... |
OMIM:615065 |
| Benign Schwannoma |
|
Intestinal polyposis, Abnormal parotid gland morphology, Abnormal esophagus morphology |
ORPHA:252164 |
| Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
| Joubert Syndrome 37 |
|
Sparse hair, High palate |
OMIM:619185 |
| Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Micrognathia, High palate, Narrow mouth, Malar flattening, Dentinogene... |
OMIM:613849 |
| Frontonasal Dysplasia 2 |
|
Sparse eyelashes, Alopecia totalis, Conical tooth, Sparse eyebrow, Fine hair, Hypohidrosis, Widel... |
OMIM:613451 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair, Triangular mouth |
OMIM:617988 |
| Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Sparse eyelashes, Sparse eyebrow, Bilateral cleft lip and palate, High ... |
OMIM:618874 |
| Gyrate Atrophy Of Choroid And Retina |
|
Abnormal hair morphology, Cataract, Subcapsular cataract |
ORPHA:414 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Carious teeth, Calvarial osteosclerosis |
ORPHA:93324 |
| Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
| Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Highly arched eyebrow, Micrognathia, Bila... |
OMIM:145420 |
| Down Syndrome |
|
Protruding tongue, Abnormality of the dentition, Thick lower lip vermilion, Narrow palate, Downtu... |
ORPHA:870 |
| Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Micrognathia, Gingival overgrowth, Malar flattening, Hirsutism |
OMIM:614592 |
| Carney Complex, Type 1 |
|
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Woolly hair |
OMIM:607450 |
| Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Persistence of primary teeth, Protruding tongue, Cryptorchidi... |
OMIM:610253 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, Microcornea, Li... |
ORPHA:1791 |
| Nevus Comedonicus Syndrome |
|
Abnormal hair morphology, Cataract |
ORPHA:64754 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Macroglossia, Dry hair, Brittle hair, Nail dystrophy |
ORPHA:93947 |
| Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth |
OMIM:259710 |
| Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
| Mucopolysaccharidosis, Type Iiib |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252920 |
| Ataxia-Telangiectasia |
|
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots |
ORPHA:100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Curly hair, Micrognathia, Wide mouth, Thick vermilion border, High palate, Short philtrum |
OMIM:300986 |
| Noonan Syndrome 4 |
|
Curly hair, Sparse eyebrow, Dental malocclusion, Wide mouth, Thick vermilion border, High anterio... |
OMIM:610733 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Abnormality of the dentition,... |
ORPHA:251028 |
| Netherton Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor... |
ORPHA:634 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Cryptorchidism, Thin vermilion border, Lo... |
OMIM:214150 |
| Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism |
OMIM:612463 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia |
OMIM:614450 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal insufficien... |
ORPHA:363444 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Sparse eyelashes, Micrognathia, Sparse eyebrow, Thick vermilion border, Small nail, Sparse hair, ... |
OMIM:250410 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Microdontia, Widely spaced teeth, Cleft palate, Hypoplasia of teeth |
ORPHA:2728 |
| Cerebrofaciothoracic Dysplasia |
|
Abnormal hair pattern, Cleft upper lip, Synophrys, Cleft palate, Low posterior hairline, Broad ph... |
ORPHA:1394 |
| Waardenburg Syndrome, Type 3 |
|
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... |
OMIM:148820 |
| Autosomal Recessive Spastic Paraplegia Type 23 |
|
Silver-gray hair, Multiple lentigines, Vitiligo |
ORPHA:101003 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
| Noonan Syndrome 7 |
|
Hyperhidrosis, Curly hair, Thick vermilion border, Low posterior hairline |
OMIM:613706 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Sparse eyelashes, Trichiasis, Sparse eyebrow, Absent pubic hair, Furrowed tongue, Keratoconjuncti... |
OMIM:148210 |
| Distal Deletion 12Q |
|
Median cleft lip, Micrognathia, High, narrow palate, Supernumerary tooth, Long philtrum, Microglo... |
ORPHA:96149 |
| Mucopolysaccharidosis, Type Iiia |
|
Synophrys, Coarse hair, Hirsutism |
OMIM:252900 |
| Ogden Syndrome |
|
Microretrognathia, Everted upper lip vermilion, High, narrow palate, Fine hair, Aplasia/Hypoplasi... |
ORPHA:276432 |
| Revesz Syndrome |
|
Leukocoria, Nail pits, Fine hair, Nail dystrophy, Sparse hair, Megalocornea, Ridged fingernail |
OMIM:268130 |
| Trisomy 9P |
|
Dental crowding, Hypoplastic toenails, Non-midline cleft lip, Impacted tooth, Downturned corners ... |
ORPHA:236 |
| Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin |
OMIM:618541 |
| Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Odontoma, Supernumerary tooth |
ORPHA:247806 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Red hair, Fair hair, Blue irides |
OMIM:614613 |
| Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Microdontia, Pulp calcification |
OMIM:606895 |
| Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Carious teeth, Dental malocclusion |
OMIM:615560 |
| Orofaciodigital Syndrome Iv |
|
Epicanthus, Accessory oral frenulum, Hamartoma of tongue, Micrognathia, Cleft palate, Lobulated t... |
OMIM:258860 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Adrenal hyperplasia, Cataract, Abnormal fingernail morphology, Opac... |
ORPHA:3453 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Cardiomegaly |
OMIM:300886 |
| Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Sparse eyelashes, Carious teeth, Nail dystrophy, Microdontia, Oral leukoplakia |
OMIM:224230 |
| Noonan Syndrome 14 |
|
Curly hair, Sparse eyebrow, High, narrow palate, Low posterior hairline, Wide mouth, Hyperhidrosi... |
OMIM:619745 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Fine hair, Thin vermilion border, Hypoplasia of the zygomatic bone, Long philtrum, Thick eyebrow |
OMIM:614800 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Carious teeth, Abnormal to... |
ORPHA:158668 |
| Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening |
OMIM:241310 |
| Attrv30M Amyloidosis |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:85447 |
| Plummer-Vinson Syndrome |
|
Tongue atrophy, Concave nail, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mou... |
ORPHA:54028 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Thin upper lip vermilion, Highly arched eyebrow, Abnormality of the dentition, Synophrys, Cleft p... |
ORPHA:363611 |
| Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Telecanthus, Delayed eruption of permanent teeth, Broad alveolar ridges, F... |
OMIM:218400 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Alopecia totalis, Absent fingernail, Anonychia, Alopecia universalis |
OMIM:609638 |
| Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Curly hair |
OMIM:256850 |
| Trisomy 20P |
|
Smooth philtrum, Thick hair, Highly arched eyebrow, Micrognathia, Abnormality of the dentition, L... |
ORPHA:261318 |
| Scarf Syndrome |
|
Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Long philtrum, Sparse hair, E... |
OMIM:312830 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Highly arched eyebrow, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermil... |
OMIM:617865 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Thick hair, Carious teeth, Coarse hair, High palate, Long philtrum, Sparse hair, Malar flattening... |
ORPHA:357074 |
| Dysostosis, Stanescu Type |
|
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... |
ORPHA:1798 |
| Teebi-Shaltout Syndrome |
|
Slow-growing hair, Highly arched eyebrow, High, narrow palate, Low anterior hairline, Cleft palat... |
OMIM:272950 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Micrognathia, Bilateral cleft lip and palate, Upslanted palpebral fissure... |
ORPHA:2001 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Natal tooth, Absent eyelashes, Cleft palate, Absent toenail, Absent fingernail, C... |
ORPHA:158687 |
| Microphthalmia, Syndromic 2 |
|
Delayed eruption of teeth, Persistence of primary teeth, Supernumerary tooth, Submucous cleft har... |
OMIM:300166 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
Abnormality of the dentition, Abnormality of hair texture |
ORPHA:88618 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Cleft palate, Furrowed tongue, High palate, Short philtrum, Everted l... |
OMIM:616449 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Abn... |
ORPHA:3440 |
| Classic Phenylketonuria |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule |
ORPHA:53271 |
| Familial Adenomatous Polyposis |
|
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ... |
ORPHA:733 |
| Kilquist Syndrome |
|
Mandibular prognathia, Wide mouth, Hypoplasia of teeth |
OMIM:619080 |
| Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
| Agel Amyloidosis |
|
Cataract, Bilateral ptosis, Keratoconjunctivitis sicca, Blepharochalasis, Nail dystrophy, Sparse ... |
ORPHA:85448 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Micrognathia, Open bite, Widow's peak, Deep philtrum, Wide mo... |
ORPHA:1974 |
| Kabuki Syndrome 2 |
|
Natal tooth, Epicanthus, Highly arched eyebrow, Micrognathia, Lower lip pit, Dental malocclusion,... |
OMIM:300867 |
| Bone Marrow Failure Syndrome 3 |
|
Micrognathia, Oral ulcer, Downturned corners of mouth, Nail dystrophy, Hypodontia, Small nail, Sp... |
OMIM:617052 |
| Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Hypoplasia of the maxilla, Sup... |
OMIM:614188 |
| Solar Urticaria |
|
Abnormal lip morphology, Abnormal tongue morphology |
ORPHA:97230 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Supernumerary tooth... |
OMIM:615948 |
| Ritscher-Schinzel Syndrome 4 |
|
Curly hair, Narrow palate, Wide mouth, Thick vermilion border, High palate, Short philtrum |
OMIM:619435 |
| Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome |
|
Wide mouth, Curly hair, Open mouth, Long philtrum |
ORPHA:457485 |
| Leopard Syndrome 3 |
|
Curly hair, Low posterior hairline |
OMIM:613707 |
| 4H Leukodystrophy |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Hypodontia, Abn... |
ORPHA:289494 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Micrognathia, Crowded maxillary incisors, Cryptorchidism, Narrow palate, Tooth agenesis, Multiple... |
ORPHA:2063 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Micrognathia, Fine hair, Long philtrum |
ORPHA:85201 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Curly hair |
OMIM:616559 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Sparse body hair |
ORPHA:2234 |
| Chops Syndrome |
|
Curly hair, Thick hair, High, narrow palate, Synophrys, Patent ductus arteriosus, Downturned corn... |
OMIM:616368 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Sparse body hair, Abnormal palate morphology |
ORPHA:3068 |
| Gapo Syndrome |
|
Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, High, narrow palate, Thick lower lip ve... |
OMIM:230740 |
| Netherton Syndrome |
|
Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair |
OMIM:256500 |
| Goldberg-Shprintzen Syndrome |
|
Telecanthus, Highly arched eyebrow, Synophrys, Corneal erosion, Sparse hair, Megalocornea, Cornea... |
OMIM:609460 |
| Corneodermatoosseous Syndrome |
|
Carious teeth, Abnormal dental enamel morphology, Gingivitis |
ORPHA:3194 |
| Kenny-Caffey Syndrome, Type 1 |
|
Carious teeth, Calvarial osteosclerosis |
OMIM:244460 |
| Bainbridge-Ropers Syndrome |
|
Thin upper lip vermilion, Dental crowding, Highly arched eyebrow, Supernumerary nipple, Micrognat... |
OMIM:615485 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
High palate, Brittle hair, Dental crowding |
OMIM:236200 |
| Prolidase Deficiency |
|
Micrognathia, Carious teeth, Low anterior hairline, White forelock, Hypoplasia of the zygomatic b... |
ORPHA:742 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Downslanted palpebral fi... |
OMIM:612350 |
| Noonan Syndrome 8 |
|
Curly hair, Patent ductus arteriosus |
OMIM:615355 |
| Immunodeficiency 49 |
|
Natal tooth, Micrognathia, Hirsutism, Upslanted palpebral fissure, Short philtrum, Short palpebra... |
OMIM:617237 |
| Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Absent lacrimal punctum, Alopecia, Abnormal hair pattern, Abnormality ... |
ORPHA:2315 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Sparse hair |
OMIM:619910 |
| Orofaciodigital Syndrome Type 1 |
|
Alopecia, Brittle hair, Median cleft lip, Abnormal dental enamel morphology, Accessory oral frenu... |
ORPHA:2750 |
| Short Stature, Dauber-Argente Type |
|
Delayed eruption of teeth |
OMIM:619489 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| Poikiloderma With Neutropenia |
|
Micrognathia, Sparse eyebrow, Carious teeth, Low posterior hairline, Nail dystrophy, Recurrent si... |
OMIM:604173 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Dental crowding, Carious teeth, Supernumerary tooth, Talon cusp, Dental malocclusion... |
ORPHA:353281 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairl... |
OMIM:180849 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypoparathyroidism, Telecanthus, Cataract, Anonychia, Generalized hirsutism |
ORPHA:1563 |
| Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... |
OMIM:613266 |
| Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Slow-growing hair, Abnormality of the dentition, Absent eyelashes, Op... |
OMIM:115150 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Cataract, Cryptorchidism, Developmental glaucoma, Fine hair, Narrow palpebral fissure, Sparse hair |
OMIM:614438 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
| Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Hamartoma of tongue, Accessory oral frenulum, Supernumerary tooth, Cleft palat... |
ORPHA:434179 |
| Orofaciodigital Syndrome V |
|
Unilateral ptosis, Thin upper lip vermilion, Median cleft lip, Unilateral cryptorchidism, Agangli... |
OMIM:174300 |
| Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
| Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Narrow pala... |
OMIM:610443 |
| Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Dental crowding, Synophrys, Patent ductus arteriosus, Downturned corners of mouth, Ma... |
OMIM:618268 |
| Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Long philtrum, Thick lower lip vermilion, Mesiodens, Narrow mouth |
ORPHA:314647 |
| Macrocephaly/Autism Syndrome |
|
Coarse hair, High palate, Long philtrum |
OMIM:605309 |
| Trisomy 8Q |
|
Micrognathia, Cryptorchidism, Non-midline cleft lip, Cleft palate, Orofacial cleft, Upslanted pal... |
ORPHA:1752 |
| Lateral Meningocele Syndrome |
|
Dental crowding, Micrognathia, Patent ductus arteriosus, Cleft palate, Coarse hair, High palate, ... |
OMIM:130720 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair, Narrow mouth |
OMIM:219150 |
| Hawkinsinuria |
|
Sparse hair |
OMIM:140350 |
| Laron Syndrome |
|
Microdontia, Tooth agenesis, Micrognathia, Delayed eruption of teeth |
ORPHA:633 |
| Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Synophrys, Patent ductus arteriosus, Low anterior hairline, Low posterior hairline, Macroglossia,... |
OMIM:617303 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
| Chst3-Related Skeletal Dysplasia |
|
Sparse eyebrow, Long philtrum, Highly arched eyebrow, Delayed eruption of teeth |
ORPHA:263463 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Supernumerary tooth, Median cleft lip, Hypodontia, Accessory oral frenulum |
OMIM:617088 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Fine hair, Premature graying of hair, Nail dysplasia, Oral leukoplakia |
OMIM:613990 |
| Pachyonychia Congenita 3 |
|
Chapped lip, Onychogryposis of toenails, Gingivitis, Furrowed tongue, Nail dystrophy, Oral leukop... |
OMIM:615726 |
| Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, Eyelid coloboma, Hy... |
ORPHA:861 |
| Cohen Syndrome |
|
Macrodontia, Thick hair, Aplasia/Hypoplasia of the tongue, Abnormal eyelid morphology, Abnormal e... |
ORPHA:193 |
| Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Thin upper lip vermilion, Slow-growing hair, Highly arched eyebrow, Patent ductus art... |
OMIM:617506 |
| 9Q21.13 Microdeletion Syndrome |
|
Cryptorchidism, Abnormal tongue morphology, Downturned corners of mouth, Long palpebral fissure, ... |
ORPHA:531151 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Abnormality of the dentition, Downturned corners of mouth, Coarse hair, Nail dysplasia, Malar fla... |
OMIM:612394 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Patent ductus arteriosus, Fine hair, Tooth agenesis, Microdontia, Retrognathia, Aplasia/Hypoplasi... |
ORPHA:2637 |
| Multiple Sulfatase Deficiency |
|
Smooth philtrum, Coarse hair, Thick eyebrow |
ORPHA:585 |
| Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Sparse hair |
OMIM:618253 |
| Carey-Fineman-Ziter Syndrome |
|
Epicanthus, Aplasia/Hypoplasia of the tongue, Micrognathia, Pierre-Robin sequence, Cleft palate, ... |
ORPHA:1358 |
| Microphthalmia, Syndromic 1 |
|
Dental crowding, Cleft upper lip, High, narrow palate, Orofacial cleft, Agenesis of maxillary lat... |
OMIM:309800 |
| Recon Progeroid Syndrome |
|
Prominence of the premaxilla, Dental crowding, Hirsutism, Hyperconvex thumb nails, Absent lower e... |
OMIM:620370 |
| Psoriasis 14, Pustular |
|
Geographic tongue, Nail dystrophy, Furrowed tongue |
OMIM:614204 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Hypoplasia of the maxilla, Fine hair, Wi... |
ORPHA:920 |
| Codas Syndrome |
|
Delayed eruption of teeth, Epicanthus, Abnormal dental morphology, Abnormal dental enamel morphol... |
ORPHA:1458 |
| Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98795 |
| Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
| Diamond-Blackfan Anemia 21 |
|
Micrognathia, Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Narrow mouth |
OMIM:620072 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
| Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
| Scalp-Ear-Nipple Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Cataract, Sparse axillary hair, Blepharophimosis, Spars... |
OMIM:181270 |
| Hermansky-Pudlak Syndrome 11 |
|
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair |
OMIM:619172 |
| Doors Syndrome |
|
Thin upper lip vermilion, Short lingual frenulum, Abnormality of the dentition, Thick lower lip v... |
ORPHA:79500 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Hypoplastic fingernail, Onychogryposis of fingernail, Exaggerated cupid's bow, Cryptorchidism, Na... |
ORPHA:2215 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Micrognathia, Low anterior hairline, Low posterior hairline, Congenita... |
ORPHA:73272 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Malabsorption, Xerostomia, Hamartomatous polyposis, Protein-losing enteropathy, Nail dy... |
OMIM:175500 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Supernumerary tooth, Retrognathia, Widely spaced teeth, Cleft soft palate |
ORPHA:268261 |
| Hypoglossia-Hypodactyly Syndrome |
|
Telecanthus, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Abnormal fingernail morphology, M... |
ORPHA:989 |
| Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Epicanthus, Abnormal dental morphology, Hyp... |
ORPHA:192 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 10 |
|
Woolly hair |
OMIM:610193 |
| Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormal fingernail morphology, Abnormality of the dentition, Breast a... |
ORPHA:2036 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Submucous cleft hard palate, Low po... |
ORPHA:1340 |
| Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Red hair |
OMIM:609734 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Alopecia totalis, Abnormal dental enamel morphology, Abnormality of th... |
ORPHA:221008 |
| Distal Duplication 5Q |
|
Micrognathia, Carious teeth, Thin vermilion border, Narrow mouth, Long philtrum |
ORPHA:96097 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Smooth philtrum, Thin upper lip vermilion, Mandibular prognathia, Micrognathia, Diastema, Cryptor... |
OMIM:300534 |
| Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, Sparse pubic hair, Increased circulating gonadotropin level, ... |
OMIM:110100 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Dental crowding, Micrognathia, Carious teeth, Supernumerary tooth, Talon cusp, Denta... |
ORPHA:353277 |
| Usher Syndrome |
|
Microdontia, Abnormality of dental color, Carious teeth, Abnormal dental enamel morphology |
ORPHA:886 |
| Gapo Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Alopecia, Sparse eyelashes, Palpebral edema, Mi... |
ORPHA:2067 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Abnormal hair morphology, Paronychia, Cl... |
ORPHA:2314 |
| Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... |
ORPHA:3322 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormal salivary gland morphology, Enlarged lacrimal glands, Inflammation of the large intestine |
OMIM:181000 |
| Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:269920 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Persistence of primary teeth, Micrognathia, Hypoplasia... |
OMIM:170390 |
| Congenital Toxoplasmosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:858 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Abnormality of the dentition, Small nail, Long philtrum, Sparse hair, Nail... |
OMIM:614813 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Abnormality of dental color |
OMIM:163200 |
| Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... |
ORPHA:2769 |
| Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Alopecia totalis, Abnormal dental enamel morphology, Abnormality of th... |
ORPHA:221016 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Frontal balding, Micrognathia, Cryptorchidism, Synophrys, High, narrow palate, Abnormality of den... |
ORPHA:96092 |
| Acrocraniofacial Dysostosis |
|
Telecanthus, Abnormal fingernail morphology, Micrognathia, Cleft palate, Short philtrum, Advanced... |
ORPHA:949 |
| Monosomy 22 |
|
Synophrys, Thin vermilion border, High palate, Long philtrum, Sparse hair, Open mouth, Retrognathia |
ORPHA:96123 |
| Osteoglosphonic Dysplasia |
|
Tooth agenesis, Cryptorchidism, Multiple unerupted teeth, Micrognathia |
ORPHA:2645 |
| Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
High palate, Persistence of primary teeth |
OMIM:147060 |
| 2P15P16.1 Microdeletion Syndrome |
|
Supernumerary nipple, Sparse eyebrow, Fine hair, High palate, Long eyelashes, Everted lower lip v... |
ORPHA:261349 |
| Kleefstra Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
| Squalene Synthase Deficiency |
|
Abnormality of hair pigmentation |
OMIM:618156 |
| Arboleda-Tham Syndrome |
|
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Highly arched eyebrow, Cleft ... |
OMIM:616268 |
| Kaufman Oculocerebrofacial Syndrome |
|
Thin upper lip vermilion, Micrognathia, Diastema, Sparse eyebrow, Carious teeth, High palate, Nar... |
OMIM:244450 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
| Pycnodysostosis |
|
Ridged nail, Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Del... |
ORPHA:763 |
| Acrodysostosis |
|
Delayed eruption of teeth, Mandibular prognathia, Epicanthus, Open bite, Cryptorchidism, Hypoplas... |
ORPHA:950 |
| Moebius Syndrome |
|
Epicanthus, Aplasia/Hypoplasia of the tongue, Micrognathia, Cleft palate, Tooth agenesis, Breast ... |
ORPHA:570 |
| Odontochondrodysplasia |
|
Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta |
ORPHA:166272 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Cataract, Corneal scarring, Conjunctivitis, Nail dystrophy, Nail dysplasia |
OMIM:226600 |
| Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Hypoplasia of mandible relative to maxi... |
ORPHA:33364 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Dental crowding, Abnormality of the dentition, Micrognathia, Synophrys, Congenital pt... |
ORPHA:476126 |
| White-Sutton Syndrome |
|
Mandibular prognathia, Micrognathia, Cleft palate, Downturned corners of mouth, Thin vermilion bo... |
OMIM:616364 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Sparse hair, Downslanted palpebral f... |
OMIM:302960 |
| Kid Syndrome |
|
Sparse eyelashes, Sparse eyebrow, Scarring alopecia of scalp, Posterior blepharitis, Keratitis, C... |
ORPHA:477 |
| Zimmermann-Laband Syndrome 1 |
|
Delayed eruption of teeth, Mandibular prognathia, Thick eyebrow, Thick hair, Highly arched eyebro... |
OMIM:135500 |
| Mucopolysaccharidosis, Type Iiid |
|
Synophrys, Thick lower lip vermilion, Hirsutism, Wide mouth, Macroglossia, Coarse hair, Thick ver... |
OMIM:252940 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
| Neurooculocardiogenitourinary Syndrome |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Cardiomegaly |
OMIM:618652 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Fatigable weakness, Hepatomegaly, Fatigable weakness of neck muscles, Cardiomegaly |
ORPHA:42 |
| Schimke Immunoosseous Dysplasia |
|
Microdontia, Coarse hair, Fine hair |
OMIM:242900 |
| Weismann-Netter Syndrome |
|
Delayed eruption of permanent teeth |
OMIM:112350 |
| Nicolaides-Baraitser Syndrome |
|
Absent eyebrow, Dry hair, Sparse scalp hair, Short lingual frenulum, Thin upper lip vermilion, Hi... |
OMIM:601358 |
| Naxos Disease |
|
Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S... |
OMIM:601214 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Smooth philtrum, Exaggerated median tongue furrow, Telecanthus, Tented upper lip vermilion, Exagg... |
OMIM:608670 |
| Brittle Cornea Syndrome 1 |
|
Red hair |
OMIM:229200 |
| Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
| Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Enlarged ovaries, Dental crowding, Thick hair, Abnormality of the dentitio... |
ORPHA:769 |
| Craniofrontonasal Syndrome |
|
Ridged nail, Curly hair, Split nail, Cleft upper lip, Abnormality of the dentition, Widow's peak,... |
OMIM:304110 |
| Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Hooded eyelid, Dental crowding, Micrognathia, Cryptorchidis... |
ORPHA:96170 |
| Weaver Syndrome |
|
Mandibular prognathia, Deep-set nails, Thin nail, Patent ductus arteriosus, Fine hair, Long philt... |
OMIM:277590 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Volvulus, Long eyelashes, Micrognathia |
OMIM:617802 |
| Adams-Oliver Syndrome |
|
Alopecia, Cataract, Aplastic/hypoplastic toenail, Absent fingernail, Sparse hair, Hypoplastic fin... |
ORPHA:974 |
| 46,Xy Sex Reversal 6 |
|
Dysgerminoma, Hirsutism, Sparse axillary hair |
OMIM:613762 |
| Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Fine hair, Wide mouth, Narrow mouth, Sparse hair, Woolly hair, Bifid uv... |
OMIM:222470 |
| Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
| Ramos-Arroyo Syndrome |
|
Sparse scalp hair, Aganglionic megacolon, Carious teeth, Dacryocystitis, Xerostomia, Nasolacrimal... |
ORPHA:1051 |
| Attrv122I Amyloidosis |
|
Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R... |
ORPHA:85451 |
| Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... |
OMIM:611584 |
| Angelman Syndrome Due To A Point Mutation |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:411511 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Epicanthus, Tented upper lip vermilion, Micrognat... |
OMIM:619148 |
| Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
| Frontorhiny |
|
Epicanthus, Hypoplasia of the maxilla, Widow's peak, Hypoplastic frontal sinuses, Cleft palate, H... |
ORPHA:391474 |
| Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Epicanthus, Micrognathia, High, narrow palate, Submucous cleft hard pa... |
ORPHA:2780 |
| Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Cryptorchidism, Widely spaced primary t... |
ORPHA:90322 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Sparse pubic hair, Hypoplasia of the maxilla, Breast aplasia, Mandibular prognathia |
ORPHA:3044 |
| Cartilage-Hair Hypoplasia |
|
Sparse eyelashes, Sparse facial hair, Sparse eyebrow, Fine hair, Sparse hair, Fair hair |
OMIM:250250 |
| Marbach-Rustad Progeroid Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Eruption failure, Shallow orbits, Hypodontia, Na... |
OMIM:619322 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Epicanthus, Carious teeth, Secondary hyperparathyroidism, Enamel hypop... |
OMIM:277440 |
| Opitz-Kaveggia Syndrome |
|
Dental crowding, Micrognathia, Cleft upper lip, Thick lower lip vermilion, Cleft palate, Fine hai... |
OMIM:305450 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
| Hajdu-Cheney Syndrome |
|
Abnormal fingernail morphology, Abnormality of the dentition, Absent frontal sinuses, Open bite, ... |
ORPHA:955 |
| Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
| Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614702 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... |
ORPHA:238468 |
| Three M Syndrome 2 |
|
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... |
OMIM:612921 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Supernumerary tooth, Ankyloglossia, Micrognathia |
OMIM:619525 |
| Galloway-Mowat Syndrome 9 |
|
Coarse hair |
OMIM:619603 |
| Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Thin vermili... |
OMIM:601812 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Sparse hair, Long upper lip, Cleft palate |
OMIM:615349 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Epicanthus, Chalazion |
OMIM:613355 |
| Noonan Syndrome 2 |
|
Curly hair, Micrognathia, Sparse eyebrow, Patent ductus arteriosus, Low posterior hairline, High ... |
OMIM:605275 |
| Cranioectodermal Dysplasia 1 |
|
Slow-growing hair, Short nail, Thin nail, High, narrow palate, Fine hair, High palate, Widely spa... |
OMIM:218330 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair, Oral leukoplakia |
OMIM:612199 |
| Sting-Associated Vasculopathy, Infantile-Onset |
|
Sparse hair, Nailfold capillary tortuosity, Nail dystrophy, Periungual erythema |
OMIM:615934 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Dental crowding, Thin nail, Delayed eruption of primary teeth, Widely spaced teeth, Sparse hair |
OMIM:617799 |
| Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Highly arched eyebrow, Protruding tongue, Micrognathia, Gingi... |
OMIM:259775 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
| Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Epicanthus, Abnormal dental morphology, Micrognathia, High, narrow pal... |
ORPHA:369950 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Sparse hair, Submucous cleft hard palate, Brittle hair, Fine hair |
OMIM:618891 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
| Sotos Syndrome |
|
Mandibular prognathia, Sparse eyebrow, Cryptorchidism, High, narrow palate, Narrow jaw, Narrow pa... |
OMIM:117550 |
| Mucopolysaccharidosis, Type Vii |
|
Hirsutism, Gingival overgrowth, Macroglossia, Coarse hair, Widely spaced teeth, Thick eyebrow |
OMIM:253220 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Sparse hair, Narrow mouth, Micrognathia |
OMIM:614114 |
| Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... |
OMIM:305620 |
| 8Q24.3 Microdeletion Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Mesiodens, Cleft maxillary alveolar ridge, Long phil... |
ORPHA:508488 |
| Otopalatodigital Syndrome, Type I |
|
Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Nail dys... |
OMIM:311300 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Highly arched eyebrow, Deep philtrum, Fine hair, Low posterior hairline, Thick vermilion border, ... |
OMIM:613563 |
| Neurofibroma |
|
Enlargement of parotid gland, Multiple intestinal neurofibromatosis, Intestinal bleeding |
ORPHA:252183 |
| Marshall-Smith Syndrome |
|
Microretrognathia, Eclabion, Prominence of the premaxilla, Brittle hair, Irregular dentition, Sho... |
OMIM:602535 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Epicanthus, Cryptorchidism, Loose anagen hair, Astigmatism, Long e... |
OMIM:607721 |
| Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Ptosis, Intestinal pseudo-obstruction, Thick lower lip vermilion, Macr... |
OMIM:309900 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Cataract, Iris coloboma, Corneal scarring |
OMIM:212550 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Ptosis, Epicanthus, Telecanthus, Sparse scalp hair, Micrognathia, Cari... |
OMIM:223370 |
| Dubowitz Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Abnormal fingernail morphology, Micrognathia, Abnor... |
ORPHA:235 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Anodontia, Fine hair |
OMIM:241080 |
| Cowden Syndrome 5 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hydrocele testis, ... |
OMIM:615108 |
| Brachydactyly, Type B1 |
|
Anonychia, Delayed eruption of permanent teeth, Hypoplastic fingernail |
OMIM:113000 |
| Neuraminidase Deficiency |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:256550 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Epicanthus, Telecanthus, Micrognathia, Cryptorchidism, Cleft lip, Dental malocclusion, Gingival o... |
OMIM:616894 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Sparse hair, Retrognathia, High palate, Wide mouth |
OMIM:619934 |
| Eiken Syndrome |
|
Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multiple unerupted tee... |
OMIM:600002 |
| Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
| Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Cleft palate, Upslanted palpebral fissure, Narrow mouth, Maxill... |
ORPHA:1790 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Cleft palate, Sparse body hair, Breast hypoplasia, Abnormality of the dentition |
ORPHA:432 |
| Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Cleft lip, Synophrys, Dental malocclusion, Cleft palate, Hypoplasia o... |
OMIM:603457 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth, Generalized hirsutism, Abnormality of the nail, Polycystic ovaries |
ORPHA:2348 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Hamartoma of tongue, Sparse eyebrow, Cryptorchidism, Cleft lip, H... |
OMIM:616300 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Microretrognathia, Thin upper lip vermilion, High, narrow palate, Synophrys, Long philtrum, Spars... |
OMIM:300966 |
| Blau Syndrome |
|
Abnormal salivary gland morphology, Xerostomia |
ORPHA:90340 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Thin upper lip vermilion, Sparse facial hair, Sparse eyebr... |
ORPHA:2232 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia |
OMIM:614381 |
| Melkersson-Rosenthal Syndrome |
|
Macroglossia, Cheilitis, Furrowed tongue |
ORPHA:2483 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Smooth philtrum, Delayed eruption of teeth, Lactose intolerance, Carious teeth, Widow's peak, Wid... |
OMIM:619229 |
| De Barsy Syndrome |
|
Delayed eruption of teeth, Narrow mouth, High palate, Small, conical teeth, Sparse hair |
ORPHA:2962 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, High, narrow palate, Deep philtrum, Low anterior hairline, Downturned corn... |
OMIM:619950 |
| Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth |
ORPHA:375 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Highly arched eyebrow, Cleft lip, Thick lower lip vermilion, Cleft pal... |
OMIM:280000 |
| Cornelia De Lange Syndrome 1 |
|
Micrognathia, High, narrow palate, Synophrys, Downturned corners of mouth, Widely spaced teeth, H... |
OMIM:122470 |
| Noonan Syndrome 10 |
|
Sparse eyebrow, Curly hair, Patent ductus arteriosus, High palate |
OMIM:616564 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
| Cockayne Syndrome B |
|
Mandibular prognathia, Anhidrosis, Dry hair, Delayed eruption of primary teeth, Abnormal hair mor... |
OMIM:133540 |
| Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Sparse hair, Tooth malposition |
OMIM:616541 |
| Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Oligodontia, Hypodontia |
ORPHA:447896 |
| Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Absent nipple, Unilateral cleft palate, Highly arched eyebrow, Abnormality... |
ORPHA:1299 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Frontal hirsutism, Cleft palat... |
OMIM:309350 |
| 3M Syndrome |
|
Delayed eruption of teeth, Abnormal dental enamel morphology, Everted lower lip vermilion, Long p... |
ORPHA:2616 |
| Short Syndrome |
|
Delayed eruption of teeth, Telecanthus, Micrognathia, Dental malocclusion, Downturned corners of ... |
OMIM:269880 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Abnormality of hair texture |
ORPHA:79351 |
| Cowden Syndrome 6 |
|
Colonic diverticula, Micrognathia, Hypoplasia of the maxilla, Furrowed tongue, Hydrocele testis, ... |
OMIM:615109 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Thin upper lip vermilion, Abnormal fingernail morphology, Thick hair, Highly arched e... |
ORPHA:444077 |
| Cockayne Syndrome A |
|
Mandibular prognathia, Anhidrosis, Dry hair, Delayed eruption of primary teeth, Carious teeth, De... |
OMIM:216400 |
| Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Cryp... |
OMIM:225500 |
| Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Downslanted palpebral fissures, Abnormal dental enamel morphology, Mic... |
ORPHA:2050 |
| Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Short nail, Deep philtrum, Long eyelashes, High palate, Palpebral thic... |
ORPHA:1675 |
| Incontinentia Pigmenti |
|
Delayed eruption of teeth, Alopecia, Abnormal dental morphology, Abnormal dental enamel morpholog... |
ORPHA:464 |
| Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, Coars... |
OMIM:612289 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos |
OMIM:615877 |
| Hemochromatosis, Type 1 |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:235200 |
| Camurati-Engelmann Disease |
|
Mandibular prognathia, Carious teeth |
OMIM:131300 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Micrognathia, Abnormality of the dentition, Cleft palate, Sparse hair, Mic... |
OMIM:151050 |
| Neurocardiofaciodigital Syndrome |
|
Sparse eyebrow, Thin vermilion border, High palate, Sparse hair, Retrognathia |
OMIM:619869 |
| Au-Kline Syndrome |
|
Supernumerary nipple, Lagophthalmos, Cryptorchidism, Dental malocclusion, Retrognathia, Cleft pal... |
OMIM:616580 |
| Argininosuccinic Aciduria |
|
Dry hair, Brittle hair, Trichorrhexis nodosa |
OMIM:207900 |
| Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Cardiomegaly |
OMIM:618838 |
| Kindler Syndrome |
|
Carious teeth, Periodontitis, Oral leukoplakia, Gingivitis |
OMIM:173650 |
| Adrenomyeloneuropathy |
|
Intra-oral hyperpigmentation, Lip hyperpigmentation, Frontal balding, Fine hair |
ORPHA:139399 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence of primary te... |
ORPHA:37553 |
| Stuve-Wiedemann Syndrome 1 |
|
Pursed lips, Micrognathia, Carious teeth, Thin vermilion border, Smooth tongue, Sparse hair, Mala... |
OMIM:601559 |
| Developmental And Epileptic Encephalopathy 41 |
|
Delayed eruption of teeth |
OMIM:617105 |
| Waardenburg Syndrome, Type 1 |
|
White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha... |
OMIM:193500 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Hypoplastic fingernail, Gingival overgrowth, Narrow palate, Anteriorly placed anus, ... |
OMIM:123790 |
| Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Ptosis, Sparse scalp hair, Thick eyebrow, Thin upper lip vermilion, Cr... |
ORPHA:1465 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Ectropion of lower ey... |
OMIM:615873 |
| Igg4-Related Kidney Disease |
|
Dacryocystitis, Sialadenitis, Abnormality of the anterior pituitary, Chronic sinusitis |
ORPHA:449395 |
| Apert Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Hypoplasia of the maxilla, Esophageal atresia, ... |
ORPHA:87 |
| Renpenning Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Brittle hair, Macrodontia, Micrognathia, Cleft p... |
OMIM:309500 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped palpebral fissures... |
OMIM:229400 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Premature loss of primary teeth, Abnormality of hair texture |
ORPHA:667 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair, Wide mouth, High palate |
OMIM:300661 |
| Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Hypoplasia of the maxilla, Cleft lip, Patent duc... |
OMIM:139210 |
| Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Dentinogenesis imperfecta, Long philtrum |
OMIM:184260 |
| Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98794 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Low anterior hairline |
OMIM:618569 |
| Coffin-Lowry Syndrome |
|
Mandibular prognathia, Highly arched eyebrow, Thick lower lip vermilion, Dental malocclusion, Nar... |
OMIM:303600 |
| Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,... |
OMIM:231005 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental enamel morphology |
ORPHA:1782 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Absent nipple, Micrognathia, Sparse eyebrow, Carious teeth... |
OMIM:620186 |
| Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism |
OMIM:612462 |
| Brachydactyly, Type E1 |
|
Multiple impacted teeth |
OMIM:113300 |
| Robinow Syndrome |
|
Dental crowding, Persistence of primary teeth, Micrognathia, Cryptorchidism, Tooth malposition, G... |
ORPHA:97360 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis |
ORPHA:363618 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Sparse hair |
OMIM:615508 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
| Cranioectodermal Dysplasia 2 |
|
Sparse eyelashes, Micrognathia, Sparse eyebrow, Cleft palate, Broad philtrum, Fused teeth, High p... |
OMIM:613610 |
| Noonan Syndrome |
|
Abnormal hair quantity, Micrognathia, Thick lower lip vermilion, Low posterior hairline, Coarse h... |
ORPHA:648 |
| X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom... |
ORPHA:324410 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Abnormality of the dentition, Thick lower lip vermilion, Abnormal shape of the palpe... |
ORPHA:261652 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Conical tooth, Short philtrum, High palate, Microdontia, Patent ductus arteriosus, Retr... |
OMIM:135900 |
| Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Enamel hypoplasia, Pseudohypoparathyroidism |
OMIM:103580 |
| Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Cryptorchidi... |
ORPHA:568 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... |
OMIM:300990 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Micrognathia, Sparse eyebrow, Intra-oral hyperpigmentation, High palate, Nail dystrophy, Short ph... |
OMIM:619127 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Cryptorchidi... |
OMIM:268310 |
| Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... |
OMIM:214500 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
White hair, Fine hair |
ORPHA:935 |
| Ramon Syndrome |
|
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Hypertrichosis |
OMIM:266270 |
| Zttk Syndrome |
|
Curly hair, Abnormality of the dentition, Sparse eyebrow, Hypoplasia of the maxilla, Patent ductu... |
OMIM:617140 |
| Syndromic Diarrhea |
|
Hypopigmentation of hair, Brittle hair, Patent ductus arteriosus, Uncombable hair, Woolly hair, T... |
ORPHA:84064 |
| Opitz Gbbb Syndrome |
|
Natal tooth, Enlarged ovaries, Telecanthus, Micrognathia, Cryptorchidism, Widow's peak, Cleft lip... |
ORPHA:2745 |
| Carpenter Syndrome 1 |
|
Epicanthus, Telecanthus, Persistence of primary teeth, Micrognathia, Cryptorchidism, Hypoplasia o... |
OMIM:201000 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Persistence of primary teeth, Dental crowding, Hiatus hernia |
OMIM:619769 |
| Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Oligodontia, Absent... |
OMIM:224300 |
| Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Short nail, Carious teeth, Fragile nails, High pala... |
OMIM:278250 |
| Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Absent eyelashes, Short upper lip, Wide mouth, Hypoplasia of the zygomatic bone, ... |
OMIM:200110 |
| Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
| Specc1L-Related Hypertelorism Syndrome |
|
Highly arched eyebrow, Cryptorchidism, Widow's peak, Orofacial cleft, Thin vermilion border, Ever... |
ORPHA:1519 |
| Kikuchi-Fujimoto Disease |
|
Enlargement of parotid gland, Alopecia, Palpebral edema, Oral ulcer |
ORPHA:50918 |
| Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Micrognathia, Sparse eyebrow, Gingival overgrowth, Wide mouth, Macroglossia, Long p... |
OMIM:252500 |
| Menkes Disease |
|
Hypopigmentation of hair, Micrognathia, Sparse hair, Woolly hair, Abnormal palate morphology |
ORPHA:565 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
| Fgfr2-Related Bent Bone Dysplasia |
|
Natal tooth, Gingival overgrowth, Hirsutism, Micrognathia |
ORPHA:313855 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
| Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy, Narr... |
OMIM:614748 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Band keratopathy, Alopecia, Cataract, Keratoconjunctivitis |
OMIM:269200 |
| Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Brittle hair |
OMIM:616084 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Epicanthus, Micrognathia, Cryptorchidism, Cl... |
OMIM:247200 |
| Mucopolysaccharidosis Type 3 |
|
Craniofacial hyperostosis, Thick hair, Abnormality of the dentition, Synophrys, Macroglossia, Coa... |
ORPHA:581 |
| Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:391428 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Absent eyebrow, Alopecia, Thin fingernail, Abnormal nasolacrimal system morphology, Corneal opaci... |
ORPHA:2273 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Micrognathia, Thick vermilion border, Sparse hair, Microdontia, Smooth philtrum |
OMIM:620005 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c... |
OMIM:306955 |
| Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Upslanted palpebral f... |
ORPHA:2896 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:616897 |
| Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
ORPHA:99931 |
| Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
| Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... |
ORPHA:163746 |
| Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Tooth malposition, Micrognathia |
ORPHA:2484 |
| Acrodysostosis 1 With Or Without Hormone Resistance |
|
Delayed eruption of teeth, Mandibular prognathia, Epicanthus, Hypoplasia of the maxilla, Cryptorc... |
OMIM:101800 |
| Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
| Roberts Syndrome |
|
Cleft upper lip, Micrognathia, Cleft palate, High palate, Sparse hair, Malar flattening |
ORPHA:3103 |
| Brittle Cornea Syndrome |
|
Abnormality of hair pigmentation |
ORPHA:90354 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Absent eyebrow, Hypoplasia of the thymus, Nail dystrophy, Sparse hair, Abnormal ductus choledochu... |
ORPHA:436252 |
| Osteoglophonic Dysplasia |
|
Delayed eruption of teeth, Mandibular prognathia, Telecanthus, Hypoplasia of the maxilla, Cryptor... |
OMIM:166250 |
| Cerebrocostomandibular Syndrome |
|
Epicanthus, Anal stenosis, Cleft soft palate, Micrognathia, Carious teeth, Cleft lip, Short hard ... |
OMIM:117650 |
| Mucolipidosis Type Ii |
|
Dry hair, White hair, Gingival overgrowth, Fine hair |
ORPHA:576 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Epicanthus, Ovarian fibroma, Odontogenic keratocysts of the jaw, Narro... |
ORPHA:77301 |
| Focal Dermal Hypoplasia |
|
Delayed eruption of teeth, Ridged nail, Brittle hair, Supernumerary nipple, Cleft upper lip, Dent... |
OMIM:305600 |
| Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... |
ORPHA:79430 |
| Apert Syndrome |
|
Delayed eruption of teeth, Mandibular prognathia, Cryptorchidism, Esophageal atresia, Pyloric ste... |
OMIM:101200 |
| Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Epicanthus, Anal stenosis, Dental crowding, Intestinal malrotation, Paranasal sinus ... |
OMIM:300373 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Secondary hyperparathyroidism |
OMIM:264700 |
| Cockayne Syndrome |
|
Anhidrosis, Dry hair, Abnormal dental morphology, Delayed eruption of primary teeth, Carious teet... |
ORPHA:191 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Dental crowding, Thin vermilion border, High palate, Long philtrum, Sparse hair, Malar flattening... |
OMIM:617157 |
| Noonan Syndrome 1 |
|
Micrognathia, High, narrow palate, Patent ductus arteriosus, Dental malocclusion, Cleft palate, L... |
OMIM:163950 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Leprosy |
|
Absent eyebrow, Alopecia, Testicular mass, Loss of eyelashes, Paralytic lagophthalmos, Iritis, Co... |
ORPHA:548 |
| Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Epicanthus, Median cleft lip, Intestinal malrotation, Hamartoma of tongue, Lobulated... |
OMIM:269860 |
| Menke-Hennekam Syndrome 1 |
|
Epicanthus, Telecanthus, Thick eyebrow, Cataract, Blepharophimosis, Cryptorchidism, Upslanted pal... |
OMIM:618332 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... |
ORPHA:3427 |
| Adnp Syndrome |
|
Smooth philtrum, Sparse scalp hair, Thin upper lip vermilion, Cryptorchidism, Bilateral ptosis, T... |
ORPHA:404448 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
| Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Carious teeth, High palate, Small, conical teeth, Sparse hair, Smooth ... |
ORPHA:2834 |
| Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of permanent teeth, Short phi... |
ORPHA:521445 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Micrognathia, Loss of eyelashes, Submucous cleft hard palate, Cleft palate, Thick vermi... |
ORPHA:2636 |
| Cockayne Syndrome Type 3 |
|
Premature graying of hair, Dry hair, Carious teeth, Enamel hypoplasia |
ORPHA:90324 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
| Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
| Sympathetic Ophthalmia |
|
Alopecia, Cataract, Poliosis, Anterior chamber cells, Posterior synechiae of the anterior chamber... |
ORPHA:79098 |
| Neuroocular Syndrome |
|
Brittle hair, Highly arched eyebrow, Synophrys, Short uvula, Submucous cleft hard palate, Retrogn... |
OMIM:619539 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
| Occipital Horn Syndrome |
|
Coarse hair, High palate, Pili torti, Long philtrum |
OMIM:304150 |
| Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
| Ogden Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Everted upper lip vermilion, Abnormality of the dent... |
OMIM:300855 |
| Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Pseudohypoparat... |
ORPHA:94089 |
| Cartilage-Hair Hypoplasia |
|
Sparse hair, Abnormal palate morphology, Gingival overgrowth, Sparse eyebrow |
ORPHA:175 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Thin nail, Micrognathia, Concave nail, Thick lower lip vermilion, Mac... |
OMIM:218040 |
| Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Downturned corners of mouth, Hypoplasia of the thymus, Absent eyebrow, Alopecia, Ab... |
OMIM:264090 |
| Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
| Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Micrognathia, Polycystic ovaries, Premature graying of hair, Abnormality of the nail, Advanced er... |
ORPHA:280365 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Gingival overgrowth, Hirsutism |
OMIM:259600 |
| Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Telecanthus, Micrognathia, Protruding tongue, Long philtrum, Malar flattening |
ORPHA:50945 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Cryptorchidism, Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth... |
ORPHA:2250 |
| Sarcoidosis |
|
Alopecia, Dacryocystitis, Enlarged lacrimal glands, Enlargement of parotid gland, Abnormal conjun... |
ORPHA:797 |
| Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Sparse hair, Nail dysplasia, Hypoplastic philtrum |
OMIM:616682 |
| Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Cryptorchidism, Ankyloblepharon... |
OMIM:612651 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation |
ORPHA:2719 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Absent gallbladder, Natal tooth, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, Clef... |
OMIM:617925 |
| Stickler Syndrome |
|
Epicanthus, Telecanthus, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Micrognat... |
ORPHA:828 |
| Catel-Manzke Syndrome |
|
Cleft upper lip, Micrognathia, Cryptorchidism, Pierre-Robin sequence, Nasolacrimal duct obstructi... |
OMIM:616145 |
| Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Delayed eruption of permanent teeth, Periodontitis, Premature loss of teeth, Retrognathia, Dentin... |
OMIM:619269 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Micrognathia, Synophrys, Deep philtrum, Downturned corner... |
OMIM:619503 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Sparse scalp hair, Thin upper lip vermilion, Micrognathia, Carious teeth, ... |
OMIM:150230 |
| Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:465508 |
| Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Abnor... |
ORPHA:141099 |
| Hutchinson-Gilford Progeria Syndrome |
|
Delayed eruption of teeth, Absent eyebrow, Dental crowding, Alopecia totalis, Short lingual frenu... |
ORPHA:740 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Curly hair, Thin upper lip vermilion, Abnormality of the dentition, Patent ductus arteriosus, Gin... |
ORPHA:480880 |
| Lysinuric Protein Intolerance |
|
Sparse hair, Fine hair |
OMIM:222700 |
| Cornelia De Lange Syndrome |
|
Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, Widely spaced teeth,... |
ORPHA:199 |
| Sim1-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398079 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Cataract, Sparse eyelashes, Sparse eyebrow, Widow's peak, Eyelid coloboma, Ptosis |
ORPHA:306542 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Natal tooth, Decreased response to growth hormone stimulation test, Cleft upp... |
OMIM:146510 |
| Pseudo-Torch Syndrome 3 |
|
Cardiomegaly |
OMIM:618886 |
| Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:268800 |
| Restrictive Dermopathy 1 |
|
Natal tooth, Entropion, Sparse eyelashes, Short nail, Micrognathia, Absent eyelashes, Sparse eyeb... |
OMIM:275210 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Delayed eruption of primary teeth, Lacrimal duct atresia, Thyroid C cell hyperplasia |
OMIM:300952 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Micrognathia, Cleft palate, Coarse hair, Narrow mouth, Retrognathia |
ORPHA:83617 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia, Secondary hyperparathyroidism |
ORPHA:289157 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Cardiomyopathy, Cardiomegaly |
OMIM:105210 |
| Mogs-Cdg |
|
Hepatomegaly, Cardiomegaly, Hepatosplenomegaly, Atrial septal defect, Left ventricular hypertrophy |
ORPHA:79330 |
| Fucosidosis |
|
Hepatomegaly, Cardiomegaly |
ORPHA:349 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... |
OMIM:176270 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Micrognathia, Abnormal hair morphology, Abnormal hair whorl, Pr... |
ORPHA:79474 |
| Vascular Ehlers-Danlos Syndrome |
|
Alopecia, Premature loss of primary teeth, Abnormality of hair texture, Abnormal eyelash morpholo... |
ORPHA:286 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
| Lethal Congenital Contracture Syndrome 10 |
|
Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Occipital Horn Syndrome |
|
High, narrow palate, Coarse hair, Thick hair, Long philtrum |
ORPHA:198 |
| Gaucher Disease, Perinatal Lethal |
|
Hepatosplenomegaly, Hepatomegaly, Splenomegaly, Cardiomegaly |
OMIM:608013 |
| Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Macroglossia, Carious teeth, Hirsutism |
OMIM:253200 |
| Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Cardiomegaly |
OMIM:619259 |
| Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
| Codas Syndrome |
|
Delayed eruption of teeth, Cryptorchidism, Rectovaginal fistula, Enamel hypoplasia, Anal atresia,... |
OMIM:600373 |
| Branchiooculofacial Syndrome |
|
Supernumerary nipple, Micrognathia, Cleft upper lip, Abnormality of the dentition, Lower lip pit,... |
OMIM:113620 |
| Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
| Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98754 |
| Witteveen-Kolk Syndrome |
|
Medial flaring of the eyebrow, Microretrognathia, Thin upper lip vermilion, Hyperconvex nail, Hig... |
OMIM:613406 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Micrognathia, Sparse eyebrow, Fine hair, Stillbirth, Short p... |
OMIM:210710 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:398069 |
| Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Dental malocclusion, Decreased response to growth hormone stimulation ... |
ORPHA:1855 |
| Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Streak ovary, Aganglionic megacolon, Micrognathia, Generalized hypertr... |
ORPHA:798 |
| Sickle Cell Disease |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:603903 |
| Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:98793 |
| Prader-Willi Syndrome Due To Translocation |
|
Hypopigmentation of hair, Stellate iris, Hypopigmentation of the skin, Hyperpigmentation of the s... |
ORPHA:177907 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Natal tooth, Thin upper lip vermilion, Submucous cleft soft palate, Abnormalit... |
ORPHA:3455 |
| Chédiak-Higashi Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Curly hair, Broad lateral eyebrow, Sparse eyebrow, Hypoplasia of the maxilla, Patent ductus arter... |
ORPHA:500150 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177904 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v... |
OMIM:602782 |
| Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
ORPHA:177901 |
| 46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency |
|
Decreased testicular size, Elevated circulating luteinizing hormone level, Sparse axillary hair, ... |
ORPHA:90796 |
| Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Reduced circula... |
ORPHA:79444 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Thick lower lip vermili... |
ORPHA:2785 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Alveolar ridge overgrowth, Gingival overgrowth, Widely spaced teeth, M... |
OMIM:301072 |
| Vici Syndrome |
|
Hypopigmentation of hair, Ocular albinism, Hypopigmentation of the skin, Albinism |
OMIM:242840 |
| Meckel Syndrome, Type 1 |
|
Thin upper lip vermilion, Natal tooth, Intestinal malrotation, Cleft upper lip, Micrognathia, Cry... |
OMIM:249000 |
| Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
| Prader-Willi Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:739 |
| Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse hair, Sparse scalp hair, Narrow mouth |
OMIM:606721 |
| Lead Poisoning |
|
Delayed eruption of teeth |
ORPHA:330015 |
| Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
| Developmental And Epileptic Encephalopathy 95 |
|
Hepatomegaly, Cardiomegaly |
OMIM:618143 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cardiomegaly |
OMIM:620306 |
| Primrose Syndrome |
|
Sparse scalp hair, Absent facial hair, Hypoplasia of the maxilla, Narrow mouth, Synophrys, Thick ... |
OMIM:259050 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Persistence of primary teeth, Carious teeth, Congenital hypoparathyroidism, Calvarial osteosclero... |
ORPHA:93325 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Carious teeth, Oral ulcer, Gingivitis, Polycystic ovaries, Enterocolitis, Xanthelasma, Inflammati... |
ORPHA:79259 |
| Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Sinusitis, Decreased response to growth hormone stimulation test, Cari... |
ORPHA:811 |
| Charge Syndrome |
|
Delayed eruption of teeth, Epicanthus, Highly arched eyebrow, Cleft upper lip, Abnormal soft pala... |
ORPHA:138 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Hepatomegaly, Cardiomegaly, Fatigable weakness of respiratory muscles, Fatigable weakness of swal... |
ORPHA:365 |
| Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Hypoplasia of the tooth germ, Carious teeth, Hypoplasia of the maxilla,... |
OMIM:182250 |
| Fucosidosis |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:230000 |
| Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
| Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
| Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
| Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
| Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Reduced circula... |
ORPHA:79443 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair |
OMIM:124000 |
| Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Aganglionic megacolon, Supernumerary nipple, Cryptorchidism, Pyloric s... |
OMIM:235730 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
| Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Gingival overgrowth |
ORPHA:508542 |
| Multiple Endocrine Neoplasia Type 2 |
|
Aganglionic megacolon, Thyroid C cell hyperplasia, Abnormal tongue morphology, Primary hyperparat... |
ORPHA:653 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, Highly arched eyebrow, Sparse eyebrow, High palate, Widely spaced teet... |
OMIM:143095 |
| Pallister-Killian Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Alopecia, Tented upper lip vermilion, Sparse eyelas... |
OMIM:601803 |
| Roberts-Sc Phocomelia Syndrome |
|
Cleft upper lip, Micrognathia, Cleft palate, Stillbirth, High palate, Sparse hair, Malar flatteni... |
OMIM:268300 |
| Degcags Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... |
OMIM:619488 |
| Liver Disease, Severe Congenital |
|
Patent ductus arteriosus, Dry hair, Nail dystrophy, Micrognathia |
OMIM:619991 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Left vent... |
OMIM:300967 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly |
OMIM:618278 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
| Pallister-Hall Syndrome |
|
Gonadotropin deficiency, Bifid uvula, Microretrognathia, Accessory oral frenulum, Cryptorchidism,... |
ORPHA:672 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Failure of eruption of permanent teeth, Enamel hypoplasia, Cleft palate |
OMIM:272460 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
| Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Intestinal obstruction, Abnormal dental e... |
ORPHA:666 |
| Cystinosis, Nephropathic |
|
Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... |
OMIM:219800 |
| Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:137675 |
| Abetalipoproteinemia |
|
Hepatomegaly, Cardiomegaly |
ORPHA:14 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly |
ORPHA:96191 |
| Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Cardiomegaly |
ORPHA:97297 |
| Genitopatellar Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Anal stenosis, Micrognathia, Cryptorchidism, Malrot... |
OMIM:606170 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Tooth abscess, Malabsorption |
ORPHA:289176 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney |
OMIM:130650 |
| Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega... |
ORPHA:75565 |
| Floating-Harbor Syndrome |
|
Persistence of primary teeth, Celiac disease, Cryptorchidism, Carious teeth, Hypoplasia of the ma... |
ORPHA:2044 |
| Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Epicanthus, Hypoplasia of the nasal bone, Hypopl... |
ORPHA:93357 |
| Aicardi-Goutières Syndrome |
|
Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:51 |
| Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Craniofacial osteosclerosis, Carious teeth |
ORPHA:1328 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Delayed eruption of teeth, Mandibular prognathia, Telecanthus, Dental crowding, Aganglionic megac... |
ORPHA:261537 |
| Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Widely spaced teeth, Bifid uvula, Abno... |
ORPHA:2152 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Short philtrum, Bifid uvula, Abnormal ... |
ORPHA:261552 |
| Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki... |
ORPHA:116 |
| Yunis-Varon Syndrome |
|
Ventricular septal defect, Cardiomegaly, Cardiomyopathy, Atrial septal defect, Tetralogy of Fallot |
ORPHA:3472 |
| Williams Syndrome |
|
Abnormal endocardium morphology, Overriding aorta, Bicuspid aortic valve, Ventricular septal defe... |
ORPHA:904 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:256040 |
| Sotos Syndrome |
|
Aganglionic megacolon, Abnormality of the dentition, Sparse anterior scalp hair, Cryptorchidism, ... |
ORPHA:821 |
| Alström Syndrome |
|
Abnormality of dental color, Frontal balding, Gingivitis, Fine hair, Tooth agenesis, Recurrent si... |
ORPHA:64 |
| Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
