Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Trichodental Dysplasia |
|
Brittle hair, Odontodysplasia, Slow-growing hair, Conical tooth, Fine hair, Hypodontia, Sparse hair |
OMIM:601453 |
Hypertrichosis Lanuginosa Congenita |
|
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Abnormality of skin... |
ORPHA:2222 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Microtia, Patchy alopec... |
OMIM:141300 |
Dentin Dysplasia, Type Ii |
|
Dentinogenesis imperfecta limited to primary teeth, Pulp calcification, Thistle tube shaped pulp |
OMIM:125420 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Failure Of Tooth Eruption, Primary |
|
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth |
OMIM:125350 |
Book Syndrome |
|
Premature graying of hair, Hypodontia |
OMIM:112300 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Gigantiform Cementoma, Familial |
|
Cementoma, Tooth malposition, Multiple impacted teeth |
OMIM:137575 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Anonychia-Microcephaly Syndrome |
|
Carious teeth, Anonychia, Aplastic/hypoplastic toenail, Abnormality of the dentition |
ORPHA:1094 |
Splenogonadal Fusion With Limb Defects And Micrognathia |
|
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia |
OMIM:183300 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Hypodontia-Dysplasia Of Nails Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal fingernail morphology, Conical to... |
ORPHA:2228 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Auriculocondylar Syndrome 2A |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Nar... |
OMIM:614669 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition |
OMIM:125440 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short stature, Sensorineural hearing impairment, Short philtrum, Denti... |
ORPHA:71267 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum, Small nail |
OMIM:300210 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair, Tiger tail... |
OMIM:619692 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Alveola... |
ORPHA:2972 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Gingival Fibromatosis-Hypertrichosis Syndrome |
|
Delayed eruption of teeth, Thick eyebrow, Abnormality of the dentition, Synophrys, Gingival fibro... |
ORPHA:2026 |
Deafness, Autosomal Dominant 39, With Dentinogenesis Imperfecta 1 |
|
High-frequency hearing impairment, Tinnitus, Dentinogenesis imperfecta, Bilateral sensorineural h... |
OMIM:605594 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Short stature, Anteverted ears, Synophrys, Dental malocclusion, Macrotia |
OMIM:615541 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Attached earlobe, Bone spicule pigmentation of the retina, Short stature, Dental malocclusion, Wi... |
OMIM:616108 |
Auriculocondylar Syndrome 1 |
|
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup... |
OMIM:602483 |
Trichodysplasia-Amelogenesis Imperfecta Syndrome |
|
Alopecia of scalp, Trichodysplasia, Amelogenesis imperfecta |
ORPHA:79129 |
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse scalp hair, Abnormal fingernai... |
ORPHA:2325 |
Gingival Fibromatosis-Progressive Deafness Syndrome |
|
Delayed eruption of teeth, Sensorineural hearing impairment, Gingival fibromatosis, Gingival over... |
ORPHA:2027 |
Impacted Teeth, Multiple |
|
Supernumerary tooth, Multiple impacted teeth |
OMIM:308280 |
Rutherfurd Syndrome |
|
Failure of eruption of permanent teeth, Delayed eruption of primary teeth |
OMIM:180900 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Oral mucosal blisters, Carious teeth, Patchy alopecia, Hypodontia, Nail dystrophy, Enamel hypopla... |
OMIM:226650 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Sensorineural hearing impairment, Tooth ankylosi... |
OMIM:166750 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Mcdonough Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Short stature, Micrognathia, Open bite,... |
ORPHA:2471 |
Dentinogenesis Imperfecta 1 |
|
Dentinogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:125490 |
Rubinstein-Taybi Syndrome 2 |
|
Thick eyebrow, Short stature, Posteriorly rotated ears, Highly arched eyebrow, Micrognathia, Cari... |
OMIM:613684 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Alopecia, Severe short stature, Carious teeth, Large fle... |
OMIM:203550 |
Meier-Gorlin Syndrome 8 |
|
Micrognathia, Microtia, Thick vermilion border, Low-set ears, Narrow mouth, Intrauterine growth r... |
OMIM:617564 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, Short stature, Notched primary central incisor, Low-set ears, High anterior ha... |
OMIM:620062 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Scarring alopecia of scalp, Growth delay, Abnormality of skin pigmentation... |
ORPHA:79402 |
Maxillonasal Dysplasia, Binder Type |
|
Large earlobe, Dental malocclusion |
OMIM:155050 |
Steatocystoma Multiplex With Natal Teeth |
|
Natal tooth, Abnormality of the nail |
OMIM:184510 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Conductive hearin... |
ORPHA:199306 |
Cardiospondylocarpofacial Syndrome |
|
Severe short stature, High, narrow palate, Conductive hearing impairment, Failure of eruption of ... |
ORPHA:3238 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hyp... |
OMIM:616367 |
Gingival Fibromatosis-Facial Dysmorphism Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Exaggerated cupid's bow, Synophrys, Gingiv... |
ORPHA:2025 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi... |
OMIM:601957 |
Acrofacial Dysostosis, Weyers Type |
|
Abnormal fingernail morphology, Abnormality of the dentition, Conical tooth, Hypoplastic toenails... |
ORPHA:952 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
|
Delayed eruption of teeth, Abnormal eyebrow morphology, Short stature, Hypodontia, Delayed pubert... |
ORPHA:1816 |
Hypotrichosis-Intellectual Disability, Lopes Type |
|
Advanced eruption of teeth, Sparse hair |
ORPHA:2266 |
Catifa Syndrome |
|
Delayed eruption of teeth, Cleft lip, Cleft palate, Microtia, Increased overbite, Long philtrum, ... |
OMIM:618761 |
Filippi Syndrome |
|
Postnatal growth retardation, Hypertrichosis, Thin vermilion border, Short philtrum, Hypodontia, ... |
OMIM:272440 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia4 |
|
Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:614832 |
Epidermolysis Bullosa, Junctional 4, Intermediate |
|
Macular hyperpigmented dermopathy, Dental enamel pits, Carious teeth, Scarring alopecia of scalp,... |
OMIM:619787 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Trichodentoosseous Syndrome |
|
Abnormal hair morphology, Taurodontia, Widely spaced teeth, Microdontia, Fragile nails |
OMIM:190320 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Anteverted ears, Aplasia of the inner ear, Widely spaced teeth, Micr... |
OMIM:610706 |
Trisomy 9P |
|
Dental crowding, Hypoplastic toenails, Non-midline cleft lip, Protruding ear, Downturned corners ... |
ORPHA:236 |
Osteoglosphonic Dysplasia |
|
Severe short stature, Rhizomelia, Micrognathia, Protruding ear, Tooth agenesis, Multiple unerupte... |
ORPHA:2645 |
Pfeiffer-Palm-Teller Syndrome |
|
Abnormal pinna morphology, Enamel hypoplasia, Short stature |
ORPHA:2871 |
Atkin-Flaitz Syndrome |
|
Short stature, Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion,... |
ORPHA:1193 |
Anonychia With Flexural Pigmentation |
|
Hypermelanotic macule, Carious teeth, Axillary and groin hyperpigmentation and hypopigmentation, ... |
ORPHA:69125 |
Amelogenesis Imperfecta, Type Ik |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:620104 |
Tricho-Dento-Osseous Syndrome |
|
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... |
ORPHA:3352 |
Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormal dental enamel morphology, Abnormali... |
ORPHA:2889 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Short stature, Micrognathia, Progressive hearing impairment, High pala... |
OMIM:613849 |
Craniosynostosis 3 |
|
Dental malocclusion, Low anterior hairline |
OMIM:615314 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Mild short stature, High palate, Dental malocclusion |
OMIM:618292 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Anotia, Atresia of the external auditory canal, Small nail, Co... |
OMIM:608257 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Carious teeth, Yellow nails, Conical incisor, Onycholysis, Nail dystrophy,... |
OMIM:614564 |
Fused Mandibular Incisors |
|
Advanced eruption of teeth, Abnormality of the dentition |
ORPHA:2287 |
Odontomicronychial Dysplasia |
|
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Thin na... |
ORPHA:1811 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Sparse hair, Thin upper lip vermilion, Enamel hypoplasia, Macrotia |
OMIM:613576 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... |
ORPHA:137888 |
Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Conical tooth, Hypoplastic toe... |
OMIM:613573 |
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome |
|
Thin upper lip vermilion, Micrognathia, Synophrys, Microtia, Everted lower lip vermilion, Low-set... |
ORPHA:357175 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Short stature, Posteriorly rotated ears, Narrow mouth, Cleft palate, Thin vermilion border, Long ... |
OMIM:615502 |
Intellectual Developmental Disorder, Autosomal Recessive 35 |
|
Thin upper lip vermilion, Micrognathia, Synophrys, Downturned corners of mouth, Microtia, Everted... |
OMIM:615162 |
Heimler Syndrome 1 |
|
Retinal pigment epithelial mottling, Sensorineural hearing impairment, Leukonychia, Beau's lines,... |
OMIM:234580 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Dentinogenesis imperfecta |
ORPHA:166277 |
17Q11.2 Microduplication Syndrome |
|
Short stature, Abnormal dental enamel morphology, Sparse eyelashes, Sparse eyebrow, Thin vermilio... |
ORPHA:139474 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation, Short stature, Narrow mouth, Abnormal or... |
ORPHA:1355 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Dental malocclusion, Short stature, Abnormality of the dentition |
ORPHA:1858 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Short stature, Micrognathia, Diastema, Dental malocclusion, Low-set ears, Malar... |
ORPHA:436245 |
Pili Torti, Early-Onset |
|
Dry hair, Brittle hair, Coarse hair, Pili torti, Hair shafts flattened at irregular intervals and... |
OMIM:261900 |
Trichothiodystrophy 2, Photosensitive |
|
Coarse hair, Tiger tail banding, Short stature, Agenesis of maxillary lateral incisor |
OMIM:616390 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Attached earlobe, Low-set, posteriorly rotated ears, Short stature, Highly... |
ORPHA:1327 |
Wilson-Turner Syndrome |
|
Thin upper lip vermilion, Short stature, Uplifted earlobe, Malar prominence, Micrognathia, Microt... |
ORPHA:3459 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Absent tragus, O... |
ORPHA:79113 |
Osteogenesis Imperfecta, Type Xix |
|
Severe short stature, Rhizomelia, Dentinogenesis imperfecta, Hearing impairment |
OMIM:301014 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Thick hair, Cleft lip, Abnormal earlobe morphology, Cleft palate, Downturn... |
ORPHA:217017 |
Brachydactyly, Type E1 |
|
Moderately short stature, Multiple impacted teeth |
OMIM:113300 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Posteriorly rotated ears, Micrognathia, Crowded maxillary incisors, Narrow palate, Tooth agenesis... |
ORPHA:2063 |
Trichorhinophalangeal Syndrome, Type I |
|
Micrognathia, Deep philtrum, Protruding ear, Sparse hair, Microdontia, Short stature, Thin nail, ... |
OMIM:190350 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Severe short stature, Carious teeth, Absent eyelashes, Cleft palate, Pr... |
ORPHA:2316 |
Osteogenesis Imperfecta, Type Xxii |
|
Intrauterine growth retardation, Short stature, Dentinogenesis imperfecta, Hearing impairment |
OMIM:619795 |
Lowry-Maclean Syndrome |
|
Delayed eruption of teeth, Intrauterine growth retardation, Cleft palate |
OMIM:600252 |
3-Hydroxyisobutyric Aciduria |
|
Intrauterine growth retardation, Long philtrum, Microtia, Micrognathia |
ORPHA:939 |
Localized Junctional Epidermolysis Bullosa |
|
Dental enamel pits, Abnormality of dental color, Sparse axillary hair, Sparse pubic hair, Scarrin... |
ORPHA:251393 |
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal dental morphology, Premature loss of primary t... |
ORPHA:248 |
X-Linked Hypohidrotic Ectodermal Dysplasia |
|
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... |
ORPHA:181 |
Griscelli Syndrome, Type 1 |
|
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... |
OMIM:214450 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Ramon Syndrome |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Abnormal dental enamel morphology... |
ORPHA:3019 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Cleft palate, Stenosis of the external audit... |
OMIM:612290 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Retrognathia, Short stature, Dentinogenesis imperfecta |
ORPHA:166272 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia3 |
|
Enamel hypomineralization, Hypomature dental enamel, Amelogenesis imperfecta |
OMIM:613211 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Oligodontia, Short stature |
OMIM:613382 |
Branchiootic Syndrome 1 |
|
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... |
OMIM:602588 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Dental malocclusion, Spotty hypopigmentation, Widely-spaced maxillary c... |
OMIM:619719 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Nail dysplasia, Yellow-brown discoloration of the teeth |
OMIM:615887 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Large fleshy ears, High palate, Absent fingernail, Bifid uvula, Supernumerary tooth... |
ORPHA:3473 |
Coxoauricular Syndrome |
|
Microtia, Short stature, Hearing impairment |
OMIM:122780 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Short stature, Micrognathia, Microtia, High palate, Conductive hearing impairment |
OMIM:248910 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Short stature, Hypodontia |
ORPHA:63442 |
Intellectual Disability, Birk-Barel Type |
|
Tented upper lip vermilion, Highly arched eyebrow, Micrognathia, High, narrow palate, Incisor mac... |
ORPHA:166108 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Conical primary inci... |
OMIM:602400 |
Hemifacial Microsomia With Radial Defects |
|
Non-midline cleft lip, Cleft palate, Orofacial cleft, Microtia, Atresia of the external auditory ... |
OMIM:141400 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Natal tooth, Sparse scalp hair, Short stature, Sparse eyelashes, Sparse eyebrow, Hypoplastic swea... |
OMIM:601345 |
Ectodermal Dysplasia/Short Stature Syndrome |
|
Delayed eruption of teeth, Short stature, Sensorineural hearing impairment, Hypodontia, Nail dyst... |
OMIM:616029 |
Otodental Syndrome |
|
Delayed eruption of teeth, High-frequency sensorineural hearing impairment, Abnormal dental ename... |
ORPHA:2791 |
Brittle Cornea Syndrome 1 |
|
Red hair, Dentinogenesis imperfecta, Hearing impairment |
OMIM:229200 |
Osteogenesis Imperfecta, Type V |
|
Short stature, Dentinogenesis imperfecta |
OMIM:610967 |
Osteogenesis Imperfecta, Type Ix |
|
Disproportionate short-limb short stature, Dentinogenesis imperfecta |
OMIM:259440 |
Ohdo Syndrome |
|
Short stature, Hearing impairment, Micrognathia, Sparse eyebrow, Hypoplasia of teeth, Thin vermil... |
OMIM:249620 |
Contractures, Congenital, Torticollis, And Malignant Hyperthermia |
|
Natal tooth, Abnormal mandible morphology, Cleft palate |
OMIM:217150 |
Marbach-Rustad Progeroid Syndrome |
|
Short stature, Delayed eruption of primary teeth, Micrognathia, Eruption failure, Growth delay, H... |
OMIM:619322 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Short stature, Abnormal fingernail morphology,... |
ORPHA:3079 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Dental crowding, Short stature, Sparse eyelashes, Micrognathia, Hypopl... |
OMIM:257850 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Open bite, Dental malocclusion, Gingival overgr... |
ORPHA:61 |
Mulibrey Nanism |
|
Dental crowding, Short stature, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental maloc... |
OMIM:253250 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... |
OMIM:618729 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... |
OMIM:265900 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Abnormality of the philtrum, Short stature, Micrognathia, Tooth agenes... |
ORPHA:2863 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Isotretinoin Syndrome |
|
Micrognathia, Hypoplastic toenails, Cleft palate, Microtia, Abnormality of the outer ear |
ORPHA:2305 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Amelogenesis Imperfecta, Type Iiib |
|
Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617607 |
Eiken Syndrome |
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Short stature, Persistence of primary teeth, Thick lower lip vermilion, Eruption failure, Multipl... |
OMIM:600002 |
Epidermolysis Bullosa, Junctional 1B, Severe |
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Carious teeth, Enamel hypoplasia, Nail dystrophy, Nail dysplasia |
OMIM:226700 |
Tietz Syndrome |
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Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of th... |
ORPHA:42665 |
Aredyld Syndrome |
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Mandibular prognathia, Craniofacial hyperostosis, Low-set, posteriorly rotated ears, Short statur... |
ORPHA:1133 |
Treacher Collins Syndrome 3 |
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Micrognathia, Cleft palate, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impair... |
OMIM:248390 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
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Dental crowding, Short stature, Highly arched eyebrow, Persistence of primary teeth, Micrognathia... |
OMIM:618342 |
Coffin-Siris Syndrome 2 |
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Low anterior hairline, High palate, Short philtrum, Short stature, Thick vermilion border, Absent... |
OMIM:614607 |
Steroid Dehydrogenase Deficiency-Dental Anomalies Syndrome |
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Supernumerary tooth, Abnormal dental enamel morphology, Enamel hypoplasia |
ORPHA:3196 |
Spermatogenic Failure 81 |
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Multiple non-erupting secondary teeth |
OMIM:620277 |
Alopecia Antibody Deficiency |
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Abnormality of dental color, Short stature, Abnormal eyelash morphology, Sparse hair, Conductive ... |
ORPHA:1006 |
Lacrimoauriculodentodigital Syndrome 3 |
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Carious teeth, Absent eyelashes, Cupped ear, Microtia, Widely spaced teeth, Enamel hypoplasia, He... |
OMIM:620193 |
20P12.3 Microdeletion Syndrome |
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Short stature, Hypoplasia of the maxilla, Microtia, Narrow mouth, Thickened helices, Malar flatte... |
ORPHA:261295 |
Dental Ankylosis |
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Mandibular prognathia, Tooth agenesis, Abnormal dental enamel morphology |
ORPHA:1077 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
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Short stature, Carious teeth, Scarring alopecia of scalp, Nail dystrophy, Nail dysplasia, Enamel ... |
OMIM:226670 |
Eem Syndrome |
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Sparse scalp hair, Absent eyebrow, Abnormality of retinal pigmentation, Abnormal dental morpholog... |
ORPHA:1897 |
Kabuki Syndrome 2 |
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Natal tooth, Short stature, Highly arched eyebrow, Micrognathia, Postnatal growth retardation, Lo... |
OMIM:300867 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
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Mixed hearing impairment, Short stature, Posteriorly rotated ears, Micrognathia, Sparse eyebrow, ... |
OMIM:606164 |
Atelis Syndrome 1 |
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Glue ear, Carious teeth, Microtia, High palate, Long philtrum, Irregular hyperpigmentation, Cafe-... |
OMIM:620184 |
Lacrimoauriculodentodigital Syndrome 2 |
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Conical tooth, Carious teeth, Cupped ear, Microtia, Hypodontia, Microdontia, Hearing impairment |
OMIM:620192 |
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis |
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Sparse eyelashes, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, C... |
OMIM:300946 |
Odontomicronychial Dysplasia |
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Premature eruption of permanent teeth, Short nail, Slow-growing nails, Thin nail |
OMIM:601319 |
6Q16 Microdeletion Syndrome |
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Abnormal ear morphology, Micrognathia, Microtia, Low-set ears, Retrognathia, Thick eyebrow |
ORPHA:171829 |
Acrootoocular Syndrome |
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Delayed eruption of teeth, Short stature, Hyperpigmented nevi, Micrognathia, Grayish enamel, High... |
ORPHA:2980 |
Cherubism |
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Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... |
OMIM:118400 |
Woolly Hair Nevus |
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Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... |
ORPHA:79414 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
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Mandibular prognathia, High palate, Dental malocclusion |
OMIM:608931 |
Endosteal Hyperostosis, Autosomal Dominant |
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Sensorineural hearing impairment, Dental malocclusion, Torus palatinus |
OMIM:144750 |
Naegeli-Franceschetti-Jadassohn Syndrome |
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Carious teeth, Premature loss of teeth, Fragile nails, Reticular hyperpigmentation |
OMIM:161000 |
Parenti-Mignot Neurodevelopmental Syndrome |
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Posteriorly rotated ears, Micrognathia, Synophrys, Cupped ear, Microtia, Short philtrum, Low-set ... |
OMIM:619873 |
Junctional Epidermolysis Bullosa Inversa |
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Oral mucosal blisters, Carious teeth, Growth delay, Nail dystrophy, Enamel hypoplasia, Anonychia |
ORPHA:79405 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
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Postnatal growth retardation, Cleft palate, Hypoplasia of teeth, Microtia, Widely spaced teeth, R... |
ORPHA:2728 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
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Short stature, Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, H... |
ORPHA:3145 |
Short Stature, Dauber-Argente Type |
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Delayed eruption of teeth, Postnatal growth retardation, Short stature |
OMIM:619489 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
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Thin upper lip vermilion, Sparse scalp hair, Exaggerated cupid's bow, Posteriorly rotated ears, H... |
OMIM:619293 |
Short Stature And Facioauriculothoracic Malformations |
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Proportionate short stature, Cleft upper lip, Cupped ear, Cleft palate, Microtia, High palate, Lo... |
OMIM:609654 |
Immunodeficiency 33 |
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Delayed eruption of teeth, Hypodontia, Conical tooth |
OMIM:300636 |
Albinism, Oculocutaneous, Type Iii |
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Red hair, Partial albinism, Albinism |
OMIM:203290 |
Fanconi Anemia, Complementation Group S |
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Macrodontia, Short stature, Dental malocclusion, Low anterior hairline, Narrow palate, Long eyela... |
OMIM:617883 |
Rapp-Hodgkin Syndrome |
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Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Short stature, C... |
OMIM:129400 |
Trisomy 4P |
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Smooth philtrum, Low-set, posteriorly rotated ears, Thick eyebrow, Short stature, Abnormal hair p... |
ORPHA:1738 |
Self-Improving Dystrophic Epidermolysis Bullosa |
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Oral mucosal blisters, Carious teeth, Abnormality of the subungual region, Abnormality of skin pi... |
ORPHA:79411 |
Ackerman Syndrome |
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Taurodontia, Broad philtrum |
OMIM:200970 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
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Hearing impairment, Micrognathia, Macrotia, Synophrys, Narrow palate, Hypoplasia of teeth, Wide m... |
OMIM:620250 |
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2 |
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Amelogenesis imperfecta |
OMIM:301201 |
Amelogenesis Imperfecta, Type Ib |
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Amelogenesis imperfecta |
OMIM:104500 |
Gapo Syndrome |
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Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, High, narrow palate, Thick lower lip ve... |
OMIM:230740 |
Osteogenesis Imperfecta, Type Xiii |
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Short stature, Generalized hirsutism, Protruding ear, Thin vermilion border, Long eyelashes, Long... |
OMIM:614856 |
Temple-Baraitser Syndrome |
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Tented upper lip vermilion, Hypoplastic thumbnail, Low anterior hairline, High palate, Short stat... |
ORPHA:420561 |
Familial Osteodysplasia, Anderson Type |
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Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... |
ORPHA:2769 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
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Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Sensorineu... |
ORPHA:3214 |
Mosaic Trisomy 14 |
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Low-set, posteriorly rotated ears, Micrognathia, Cleft palate, Wide mouth, Microtia, High palate |
ORPHA:1703 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
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Exaggerated cupid's bow, Posteriorly rotated ears, Wide mouth, Delayed eruption of permanent teet... |
OMIM:618506 |
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth |
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Natal tooth |
OMIM:243185 |
Teeth Present At Birth |
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Natal tooth |
OMIM:187050 |
Potocki-Lupski Syndrome |
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Mandibular prognathia, Dental crowding, Short stature, Micrognathia, Dental malocclusion, Wide mo... |
OMIM:610883 |
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome |
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Carious teeth, Enamel hypoplasia, Thick vermilion border, Sparse lateral eyebrow |
ORPHA:363523 |
Postaxial Acrofacial Dysostosis |
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Low-set, posteriorly rotated ears, Supernumerary nipple, Micrognathia, Non-midline cleft lip, Cup... |
ORPHA:246 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
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Thick eyebrow, Posteriorly rotated ears, Micrognathia, Synophrys, Wide mouth, Oligodontia, Microt... |
OMIM:602562 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
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Alopecia, Sparse eyelashes, Carious teeth, Scarring alopecia of scalp, Sparse eyebrow, Nail dystr... |
OMIM:612843 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
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Microretrognathia, Low-set, posteriorly rotated ears, Short stature, Abnormality of the dentition... |
ORPHA:2994 |
Late-Onset Junctional Epidermolysis Bullosa |
|
Oral mucosal blisters, Carious teeth, Growth delay, Nail dystrophy, Enamel hypoplasia, Anonychia |
ORPHA:79406 |
Otopalatodigital Syndrome, Type I |
|
Short stature, Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted ... |
OMIM:311300 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
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Curly hair, Thick eyebrow, Short stature, Curly eyelashes, Multiple rows of eyelashes, Narrow phi... |
ORPHA:163654 |
Larsen-Like Syndrome |
|
Short stature, Dental malocclusion, Cleft palate, Recurrent otitis media, Low-set ears, Conductiv... |
OMIM:608545 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
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Short stature, Posteriorly rotated ears, Cleft lip, Cleft palate, Downturned corners of mouth, Mi... |
OMIM:618089 |
Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Thick eyebrow, Short stature, Hypertrichosis, Cleft palate, Wide mouth, Macrog... |
OMIM:614608 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Subungual hyperkeratosis, Decreased number of sweat glands, Abnormal dental morphology, Abnormali... |
ORPHA:69087 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Highly arched eyebrow, Diastema, Deep philtrum, Talon cusp, Synophrys, Cleft palate, Bilateral se... |
OMIM:605282 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Severe short stature, Short stature, Dental malocclusion, Protruding e... |
OMIM:612921 |
Ectodermal Dysplasia With Adrenal Cyst |
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Delayed eruption of teeth, Breast hypoplasia, Hypoplastic nipples, Nail dysplasia |
OMIM:129550 |
Muenke Syndrome |
|
Sensorineural hearing impairment, Dental malocclusion, Low anterior hairline, High palate, Recurr... |
OMIM:602849 |
Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Posteriorly rotated ears, Downturned corners of mouth, Thin vermilion bord... |
OMIM:301025 |
Isotretinoin Embryopathy-Like Syndrome |
|
Anotia, Microtia, Cleft palate, Micrognathia |
OMIM:243440 |
Momo Syndrome |
|
Delayed eruption of teeth, Underfolded helix, Hyperconvex nail, Thick lower lip vermilion, Dental... |
OMIM:157980 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
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Mandibular prognathia, Microretrognathia, Short stature, Hearing impairment, Micrognathia, Cariou... |
OMIM:618363 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal hair pattern, Synophrys, Low posterior hairline, Down... |
ORPHA:2983 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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Thin upper lip vermilion, Dental crowding, Short stature, Posteriorly rotated ears, Synophrys, Pi... |
OMIM:617877 |
Even-Plus Syndrome |
|
Severe short stature, Highly arched eyebrow, Synophrys, Microtia, High palate, Hypodontia, Sparse... |
OMIM:616854 |
Nance-Horan Syndrome |
|
Diastema, Screwdriver-shaped incisors, Mulberry molar, Supernumerary maxillary incisor, Macrotia |
OMIM:302350 |
Heimler Syndrome 2 |
|
Dental crowding, Sensorineural hearing impairment, Leukonychia, Beau's lines, Amelogenesis imperf... |
OMIM:616617 |
Braddock-Carey Syndrome 1 |
|
Curly hair, Posteriorly rotated ears, Pierre-Robin sequence, Cleft palate, Growth delay, Everted ... |
OMIM:619980 |
Beaulieu-Boycott-Innes Syndrome |
|
Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, High anterior hai... |
OMIM:613680 |
Oliver Syndrome |
|
Mandibular prognathia, Supernumerary nipple, Dental malocclusion, Hyperconvex fingernails, High p... |
ORPHA:2920 |
Recon Progeroid Syndrome |
|
Attached earlobe, Prominence of the premaxilla, Dental crowding, Short stature, Hyperconvex thumb... |
OMIM:620370 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Dental malocclusion, Overfolded helix, Hypoplastic helices, Open mouth,... |
OMIM:619149 |
Osteogenesis Imperfecta, Type Iii |
|
Micrognathia, Disproportionate short-limb short stature, Neonatal short-limb short stature, Denti... |
OMIM:259420 |
Craniosynostosis, Herrmann-Opitz Type |
|
Short stature, Micrognathia, Cleft palate, Abnormal antihelix morphology, Microtia, Malar flatten... |
ORPHA:2145 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Short stature, Micrognathia, Hypoplasia of the maxilla, Abnormality of ... |
ORPHA:363417 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Brittle hair, Short stature, Hyperpigmentation of the skin, Hypoplasia... |
ORPHA:50814 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Thick lower lip vermilion, Birth length l... |
OMIM:613804 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Thin upper lip vermilion, Cleft palate, Everted lower lip vermilion, H... |
OMIM:619736 |
Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxill... |
ORPHA:245 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Irregular dentition, Growth delay, Microtia, Narrow mouth, Hearing impairment |
OMIM:616006 |
Dentin Dysplasia |
|
Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Odontochondrodysplasia 1 |
|
Delayed eruption of teeth, Short stature, Mesomelic short stature, Long philtrum, Dentinogenesis ... |
OMIM:184260 |
Harrod Syndrome |
|
Dental malocclusion, Hypopigmented skin patches, Protruding ear, High palate, Narrow mouth, Intra... |
ORPHA:2115 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars... |
OMIM:616788 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Abnormal soft palate morpholo... |
ORPHA:884 |
Stimmler Syndrome |
|
Microdontia, Intrauterine growth retardation, Short stature, Abnormal dental enamel morphology |
ORPHA:3199 |
Intellectual Developmental Disorder, X-Linked, Syndromic 12 |
|
Mandibular prognathia, Postnatal growth retardation, Thick lower lip vermilion, Wide mouth, Thick... |
OMIM:309545 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Thick eyebrow, Poster... |
OMIM:211380 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Short stature, Micrognathia, Abnormality of the dentition, Sensorineural hearing impairment, Thic... |
ORPHA:85321 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Short stature, Partial albinism |
ORPHA:90023 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Short stature, Postnatal growth retardation, High palate, Dentinogenesis imper... |
OMIM:616294 |
Distal Deletion 17Q |
|
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Short stature, Aplasia/Hypoplasia... |
ORPHA:1597 |
Odontoonychodermal Dysplasia |
|
Ridged nail, Sparse scalp hair, Dry hair, Thin nail, Short nail, Sparse eyebrow, Abnormality of p... |
OMIM:257980 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Short stature, Micrognathia, Postnatal growth retardation, Congenital ... |
ORPHA:73272 |
Pachyonychia Congenita 2 |
|
Natal tooth, Sparse scalp hair, Subungual hyperkeratosis, Dry hair, Angular cheilitis, Sparse eye... |
OMIM:167210 |
Barber-Say Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat... |
OMIM:209885 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Abnormality of the dentition, Micrognathia, Synophrys, Eruption failure, High pa... |
ORPHA:476126 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Thick lower lip vermilion, Frontal upsweep of hair, Widely spaced teet... |
OMIM:619797 |
Bazex-Dupré-Christol Syndrome |
|
Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Hypoplasia of the ear... |
ORPHA:113 |
Seckel Syndrome 1 |
|
Dental crowding, Selective tooth agenesis, Proportionate short stature, Micrognathia, Postnatal g... |
OMIM:210600 |
Cole-Carpenter Syndrome 1 |
|
Microdontia, Short stature, Dentinogenesis imperfecta, Micrognathia |
OMIM:112240 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Thick hair, Slow-gro... |
ORPHA:2107 |
Hall-Riggs Syndrome |
|
Thick lower lip vermilion, Microdontia of primary teeth, Hypoplasia of the primary teeth, U-Shape... |
OMIM:234250 |
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 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Bilateral conductive hearing impairment, Cl... |
OMIM:216300 |
Oculoauriculofrontonasal Syndrome |
|
Micrognathia, Cleft lip, Cleft palate, Microtia, Narrow mouth, Conductive hearing impairment, Bro... |
ORPHA:398156 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Natal tooth, Sparse scalp hair, Short stature, Sparse eyelashes, Micrognathia, Hypoplastic toenai... |
OMIM:616901 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Hypoplastic thumbnail, Micrognathia, Hypoplastic toenails, Hypoplastic fifth fingernail, Delayed ... |
OMIM:619356 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Hypoplastic fifth toenail, Sparse scalp hair, Short stature, Posterior... |
OMIM:615866 |
Noonan Syndrome 4 |
|
Curly hair, Short stature, Posteriorly rotated ears, Sparse eyebrow, Dental malocclusion, Blue ir... |
OMIM:610733 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Micrognathia, Protruding ear, Hyperconvex fingernails, Coarse hair, Widely spaced ... |
ORPHA:1071 |
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type |
|
Natal tooth, Subungual hyperkeratosis, Scarring alopecia of scalp, Hypoplastic sweat glands, Clef... |
OMIM:617337 |
Waardenburg Syndrome, Type 2F |
|
Hypermelanotic macule, Congenital sensorineural hearing impairment, Sensorineural hearing impairm... |
OMIM:619947 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment |
OMIM:251800 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Postnatal growth retardation, Hypopigmented skin patches, Wide mouth, Growt... |
ORPHA:2896 |
Ameloonychohypohidrotic Syndrome |
|
Hypocalcification of dental enamel, Onycholysis, Marked delay in eruption of permanent teeth, Yel... |
OMIM:104570 |
Pycnodysostosis |
|
Ridged nail, Obtuse angle of mandible, Rhizomelia, Delayed eruption of primary teeth, Persistence... |
ORPHA:763 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... |
OMIM:300602 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Everted upper lip vermilion, Short stature, Wide mouth, Microtia, Widely spaced teeth, Low-set ea... |
OMIM:619056 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Delayed eruption of teeth, Short stature, Moderately short stature, Dental malocclusion, High pal... |
OMIM:612350 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Attached earlobe, Mixed hearing impairment, Absent nipple, Unilateral clef... |
ORPHA:1299 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Severe short stature, Microtia, Atresia of the external auditory canal, Conductive hearing impair... |
ORPHA:2213 |
Osteogenesis Imperfecta, Type Iv |
|
Otosclerosis, Short stature, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166220 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Short stature, Abnormality of the middle ear ossicles, Non-midline cleft lip, Abnormality of the ... |
ORPHA:2549 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Downturned corners of mouth, Intrauterine growth retardation, Enamel hypoplasia, Severe short sta... |
ORPHA:2643 |
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Supernumerary tooth, Sensorineural hearing impairment, Synophrys, Ap... |
ORPHA:90024 |
Momo Syndrome |
|
Delayed eruption of teeth, Short stature, Underfolded helix, Hyperconvex nail, Thick lower lip ve... |
ORPHA:2563 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... |
ORPHA:3353 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Abnormality of the philtrum, Abnormal hair patt... |
ORPHA:1770 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, ... |
ORPHA:2409 |
Osteogenesis Imperfecta, Type Xi |
|
Short stature, Dentinogenesis imperfecta, Hearing impairment |
OMIM:610968 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Proportionate short stature, Sensorineural hearing impairment, Growth delay, Delayed eruption of ... |
OMIM:619269 |
X-Linked Intellectual Disability, Van Esch Type |
|
Intrauterine growth retardation, Retrognathia, Short stature, Microtia |
ORPHA:163976 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Acrofacial Dysostosis, Catania Type |
|
Carious teeth, Intrauterine growth retardation, Widow's peak, Short stature |
OMIM:101805 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Short stature, Hypoplasia of the maxilla, Thick lower li... |
ORPHA:293939 |
Intellectual Developmental Disorder, Autosomal Dominant 43 |
|
Attached earlobe, Thin upper lip vermilion, Synophrys, Gingival overgrowth, Microtia, High palate... |
OMIM:616977 |
Pachyonychia Congenita |
|
Natal tooth, Alopecia, Angular cheilitis, Ear pain, Paronychia, Onychogryposis of toenails, Finge... |
ORPHA:2309 |
Cerebellofaciodental Syndrome |
|
Short stature, Sparse eyebrow, Dental malocclusion, Fine hair, Taurodontia, Low-set ears, Macrodo... |
OMIM:616202 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Mixed hearing impairment, Carious teeth, Cupped ear, Dental malocclusion, Low-... |
OMIM:615560 |
Seckel Syndrome 5 |
|
Short stature, Selective tooth agenesis, Micrognathia, Cleft palate, Oligodontia, High palate, Hy... |
OMIM:613823 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of the dentition, Supernumerary tooth, Oligodont... |
ORPHA:1264 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Postnatal growth retardation, Rhizomelia, Recurrent otitis media, Dental malocclusion |
OMIM:608940 |
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma |
|
Microtia |
OMIM:611863 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Macrotia, Fine hair |
OMIM:272300 |
Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Too... |
OMIM:150400 |
Kohlschutter-Tonz Syndrome |
|
Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:226750 |
Proximal 16P11.2 Microduplication Syndrome |
|
Thin upper lip vermilion, Short stature, Sparse eyelashes, Abnormality of the hairline, Sparse ey... |
ORPHA:370079 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, Na... |
OMIM:239800 |
Weiss-Kruszka Syndrome |
|
Hypoplastic fingernail, Exaggerated cupid's bow, Hearing impairment, Highly arched eyebrow, Cuppe... |
OMIM:618619 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Low-set, posteriorly rotated ears, Abnormal hair quantity, Severe short stature, Micrognathia, Op... |
ORPHA:2617 |
Lethal Acantholytic Erosive Disorder |
|
Natal tooth, Absent eyebrow, Abnormal pinna morphology, Absent eyelashes, Cleft palate, Absent to... |
ORPHA:158687 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Enamel hypoplasia, Short stature |
OMIM:612463 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Synophrys, Downturned corners of mouth, Wide mouth, Everted lower lip v... |
OMIM:618067 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, Cleft soft palate, Short sta... |
OMIM:616331 |
Vascular Malformation, Primary Intraosseous |
|
Ectopic tooth eruption, Gingival bleeding |
OMIM:606893 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Abnormal pinna morphology, Thick lower lip vermilion, Orofacial cleft, Downtur... |
OMIM:123450 |
Verloove Vanhorick-Brubakk Syndrome |
|
Micrognathia, Non-midline cleft lip, Cleft palate, Microtia, Atresia of the external auditory can... |
ORPHA:3429 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Severe short stature, Rhizomelia, Hypoplasia of... |
OMIM:166250 |
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Mandibular prognathia, Short stature, Onychauxis, High palate, Advanced eruption of teeth, Hypert... |
OMIM:262190 |
Hamamy Syndrome |
|
Thin upper lip vermilion, Abnormal number of hair whorls, Sparse eyelashes, Micrognathia, Sparse ... |
OMIM:611174 |
Weismann-Netter Syndrome |
|
Severe short stature, Delayed eruption of permanent teeth |
OMIM:112350 |
Chromosome 4Q21 Deletion Syndrome |
|
Severe short stature, Postnatal growth retardation, Narrow mouth, Sensorineural hearing impairmen... |
OMIM:613509 |
Scalp-Ear-Nipple Syndrome |
|
Delayed eruption of teeth, Abnormal fingernail morphology, Underdeveloped antitragus, Abnormality... |
ORPHA:2036 |
Bent Bone Dysplasia Syndrome 1 |
|
Natal tooth, Micrognathia, Gingival overgrowth, Low-set ears, Malar flattening, Hirsutism |
OMIM:614592 |
Waardenburg Syndrome, Type 2B |
|
Premature graying of hair, Sensorineural hearing impairment, White forelock, Heterochromia iridis |
OMIM:600193 |
Trichothiodystrophy 3, Photosensitive |
|
Natal tooth, Brittle hair, Short stature, Carious teeth, Low-set ears, Eclabion, Intrauterine gro... |
OMIM:616395 |
Chanarin-Dorfman Syndrome |
|
Alopecia, Sensorineural hearing impairment, Microtia, Everted lower lip vermilion |
OMIM:275630 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Hypertrichosis, Oligodontia, Wid... |
OMIM:601216 |
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly |
|
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Wide mouth, High palate, Long ... |
OMIM:618825 |
Intermediate Osteopetrosis |
|
Abnormality of the dentition, Abnormal dental morphology, Osteosclerosis of the base of the skull... |
ORPHA:210110 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Posteriorly rotated ears, Micrognathia, Sparse eyebrow, Protruding ear, Bilateral cleft lip and p... |
OMIM:618829 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Delayed eruption of teeth, Dental crowding, Sensorineural hearing impairment, Hypertrichosis, Mac... |
OMIM:616354 |
Schilbach-Rott Syndrome |
|
Short stature, Posteriorly rotated ears, Micrognathia, Submucous cleft hard palate, Microtia, Nar... |
OMIM:164220 |
Familial Adenomatous Polyposis 1 |
|
Carious teeth, Supernumerary tooth, Eruption failure, Odontoma, Hyperpigmentation of the skin |
OMIM:175100 |
Pycnodysostosis |
|
Ridged nail, Short stature, Delayed eruption of primary teeth, Persistence of primary teeth, Abse... |
OMIM:265800 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Mandibular prognathia, Sparse scalp hair, High-frequency sensorineural hearing impairment, Postna... |
ORPHA:2324 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Hypopigmentation of hair, Tented upper lip vermilion, White eyelashes, Whi... |
ORPHA:894 |
Aarskog-Scott Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Short stature, Cleft upper lip, Hyp... |
ORPHA:915 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth |
ORPHA:99811 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Low-set, posteriorly rotated ears, Sparse scalp hair, Short stature, Abnormal fingernail morpholo... |
ORPHA:2701 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Delayed eruption of permanent teeth |
ORPHA:839 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Abnormality of the dentition,... |
ORPHA:251028 |
Tooth Agenesis, Selective, 3 |
|
Oligodontia of primary teeth, Agenesis of permanent molar, Abnormal fingernail morphology, Abnorm... |
OMIM:604625 |
Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Delayed eruption of teeth, Macroglossia, Growth delay |
OMIM:614450 |
Albinism, Oculocutaneous, Type Ib |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism |
OMIM:606952 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Mandibular prognathia, Short stature, Uplifted earlobe, Narrow palate, Short upper lip, Thick ver... |
ORPHA:364028 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Abnormality of the dentition, Carious teeth, Thin lower lip vermilion, Velopharyngeal insufficien... |
ORPHA:363444 |
Oculoskeletodental Syndrome |
|
Short stature, Abnormality of the dentition, Conductive hearing impairment, Sensorineural hearing... |
ORPHA:557003 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta |
OMIM:615905 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Protruding ear, Downturned corners of mouth, Widely spaced t... |
OMIM:156200 |
Microcephaly 6, Primary, Autosomal Recessive |
|
Microtia |
OMIM:608393 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Brittle hair, Short stature, Carious teeth, Sensorineural hearing impairment, Coarse hair, Sparse... |
ORPHA:1883 |
Laron Syndrome |
|
Delayed eruption of teeth, Severe short stature, Micrognathia, Tooth agenesis, Delayed puberty, M... |
ORPHA:633 |
Recessive Dystrophic Epidermolysis Bullosa Inversa |
|
Oral mucosal blisters, Carious teeth, Growth delay, Nail dystrophy, Stenosis of the external audi... |
ORPHA:79409 |
Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal hair quantity, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Conductive ... |
ORPHA:1997 |
Familial Isolated Hypoparathyroidism |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology |
ORPHA:2238 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Micrognathia, Cleft palate, Fusion of middle ear ossicles, Microtia, Hypoplasi... |
OMIM:613717 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microtia, Micrognathia |
ORPHA:2547 |
Short Syndrome |
|
Delayed eruption of teeth, Micrognathia, Sensorineural hearing impairment, Dental malocclusion, D... |
OMIM:269880 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Short stature, Supernumerary nipple, Cleft ... |
OMIM:612530 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Hypermelanotic macule, Delayed eruption of primary teeth, Hearing impairme... |
ORPHA:90322 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, C... |
OMIM:113650 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Micrognathia, Thin vermilion border, Microtia, Low-set ears, Long philtrum, Malar flattening |
ORPHA:171839 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Submucous cleft hard palate, Birth length... |
OMIM:613805 |
Cohen Syndrome |
|
Bone spicule pigmentation of the retina, Short stature, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:216550 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Short stature, Selective tooth agenesis, Micrognathia, Dental malocclusion, Low posteri... |
ORPHA:2959 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Protruding ear, Wide mouth... |
ORPHA:137834 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Brittle hair, Short stature, Highly arched eyebrow, Supernumerary tooth, Submucous cleft hard pal... |
OMIM:617412 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Thin upper lip vermilion, Short stature, Sparse eyelashes, Sparse eyebrow, Bilateral cleft lip an... |
OMIM:618874 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency |
|
Severe short stature, Posteriorly rotated ears, Micrognathia, Microtia, Low-set ears, Intrauterin... |
OMIM:618336 |
Griscelli Syndrome, Type 2 |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:607624 |
48,Xyyy Syndrome |
|
Thick lower lip vermilion, Irregularly spaced teeth, High palate, Long philtrum, Enamel hypoplasia |
ORPHA:99329 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short stature, Micrognathia, Cleft palate, Orofacial cleft, Microtia, L... |
ORPHA:1988 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Macrotia, Cleft palate, Anotia, Microtia,... |
OMIM:616462 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Hearing i... |
OMIM:620114 |
Van Maldergem Syndrome 2 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Sensori... |
OMIM:615546 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Severe short stature, Micrognathia, Sparse eyebrow, Dent... |
ORPHA:444072 |
Craniometadiaphyseal Dysplasia |
|
Mandibular prognathia, Natal tooth, Dental crowding, Short stature, Carious teeth, Absent paranas... |
OMIM:269300 |
Martin-Probst Syndrome |
|
Short stature, Micrognathia, Sensorineural hearing impairment, Thick lower lip vermilion, Dental ... |
OMIM:300519 |
19P13.3 Microduplication Syndrome |
|
Posteriorly rotated ears, Micrognathia, Cleft palate, Growth delay, Microtia, Thick vermilion bor... |
ORPHA:447980 |
Saethre-Chotzen Syndrome |
|
Short stature, Abnormal hair pattern, Hypoplasia of the maxilla, Open bite, Prominent crus of hel... |
ORPHA:794 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Protruding ear, High palate, Conductive hearing impairment, Short stature, Hamartom... |
ORPHA:2751 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Natal tooth, Alopecia totalis, Absent fingernail, Anonychia, Alopecia universalis |
OMIM:609638 |
Distal Deletion 9P |
|
Low-set, posteriorly rotated ears, Abnormality of the dentition, High, narrow palate, Aplasia/Hyp... |
ORPHA:1642 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Abnormal dental morphology, Deep philtrum, Aplasia/Hypoplasia of the earlobes, Abnormal antitragu... |
ORPHA:2878 |
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form |
|
Abnormal fingernail morphology, Oral mucosal blisters, Carious teeth, Growth delay, Nail dystroph... |
ORPHA:79410 |
Dilution, Pigmentary |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation |
OMIM:126070 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, Velopharyngeal insufficiency, Cupped ear, Low anterior hairline, ... |
OMIM:617746 |
Cardiofaciocutaneous Syndrome 1 |
|
Micrognathia, Deep philtrum, High palate, Sparse hair, Absent eyebrow, Short stature, Open bite, ... |
OMIM:115150 |
Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... |
ORPHA:170 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Low anterior hairline... |
ORPHA:329178 |
Tetraploidy |
|
Micrognathia, Cleft palate, Short philtrum, Hypoplasia of the ear cartilage, Intrauterine growth ... |
ORPHA:3305 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Carious teeth, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Intrauter... |
OMIM:616353 |
Meier-Gorlin Syndrome 2 |
|
Short stature, Abnormal pinna morphology, Micrognathia, Birth length less than 3rd percentile, Mi... |
OMIM:613800 |
Barber-Say Syndrome |
|
Delayed eruption of teeth, Abnormal pinna morphology, Wide mouth, Sparse or absent eyelashes, Bre... |
ORPHA:1231 |
Buratti-Harel Syndrome |
|
Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate, Microtia, Hi... |
OMIM:619314 |
Codas Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Abnormal dental enamel morphology, Short s... |
ORPHA:1458 |
Cornelia De Lange Syndrome 2 |
|
Thin upper lip vermilion, Thick eyebrow, Short stature, Highly arched eyebrow, Micrognathia, Post... |
OMIM:300590 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Thin upper lip vermilion, Short stature, Highly arched eyebrow, Macrotia, Aplasia/Hypoplasia of t... |
ORPHA:505237 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Short stature, Micrognathia, Deep philtrum, Cleft palate, Microtia, Atresia of the external audit... |
OMIM:610536 |
Galloway-Mowat Syndrome 8 |
|
Enamel hypoplasia, Hearing impairment |
OMIM:618349 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Sparse scalp hair, Sparse eyelashes, Selective tooth agenesis, Proportionate short s... |
OMIM:234100 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79478 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Delayed eruption of teeth, Mild postnatal growth retardation, Short statur... |
OMIM:101800 |
Gardner Syndrome |
|
Abnormality of the dentition, Pilomatrixoma, Supernumerary tooth, Odontoma, Multiple unerupted te... |
ORPHA:79665 |
Char Syndrome |
|
Supernumerary nipple, Persistence of primary teeth, No permanent dentition, Thick vermilion borde... |
ORPHA:46627 |
Van Maldergem Syndrome 1 |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Sensori... |
OMIM:601390 |
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Enamel hypoplasia, Nail dystrophy, Recurrent loss of toenails and fingernails, Amelogenesis imper... |
OMIM:245660 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Alopecia, Short stature, Carious teeth, Melanocytic nevus, Hypodontia, Delayed puberty |
OMIM:612079 |
4H Leukodystrophy |
|
Delayed eruption of teeth, Short stature, Abnormality of the dentition, Hypodontia, Delayed puberty |
ORPHA:289494 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Diamond-Blackfan Anemia 10 |
|
Short stature, Posteriorly rotated ears, Micrognathia, Cleft palate, Growth delay, Microtia, Atre... |
OMIM:613309 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair, Dental crowding, Postnatal growth retardation, Pierre-Robin sequence, Cleft palate,... |
OMIM:619184 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Posteriorly rotated ears, Proportionate short stature, Trismus, Deep philtrum, Widow's peak, Dent... |
OMIM:227330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Piebaldism |
|
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... |
ORPHA:2884 |
Albinism, Oculocutaneous, Type Iv |
|
Hypopigmentation of hair, Blue irides, Albinism |
OMIM:606574 |
Acrocraniofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Short stature, Abnormal pinna morphology, Abnormal fingernail ... |
ORPHA:949 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Cranioectodermal Dysplasia |
|
Rhizomelia, Abnormal dental enamel morphology, Abnormal fingernail morphology, Abnormality of the... |
ORPHA:1515 |
Coxoauricular Syndrome |
|
Microtia, Short stature, Atresia of the external auditory canal, Hearing impairment |
ORPHA:1508 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Micrognathia, Hypodontia, Malar flattening, Enamel hypoplasia,... |
OMIM:212780 |
Jalili Syndrome |
|
Abnormality of retinal pigmentation, Abnormality of dental color, Abnormal dental enamel morpholo... |
ORPHA:1873 |
Spondylocarpotarsal Synostosis Syndrome |
|
Abnormality of retinal pigmentation, Mixed hearing impairment, Sensorineural hearing impairment, ... |
OMIM:272460 |
Osteogenesis Imperfecta, Type Xvii |
|
Hearing abnormality, Short stature, Dentinogenesis imperfecta |
OMIM:616507 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Sparse scalp hair, Postnatal growth retardation, Disproportionate short stature, Areas of hypopig... |
OMIM:210720 |
Myopathy, Myofibrillar, 8 |
|
Dental malocclusion, High palate, Micrognathia |
OMIM:617258 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Abnormal pinna morphology, Absent tragus, Cleft lip, Synophrys, Denta... |
OMIM:603457 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Micrognathia, Hearing abnormality, Cupped ear, Ocular albinism, Microtia, Intrauterine growth ret... |
ORPHA:1352 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Micrognathia, Premature graying of hair, High palate, Sparse hair, Microdo... |
OMIM:268400 |
Osteogenesis Imperfecta, Type I |
|
Otosclerosis, Dentinogenesis imperfecta, Hearing impairment |
OMIM:166200 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Albinism |
ORPHA:2786 |
Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Sparse scalp hair, Alopecia, Dental crowding, Short stature, Sparse eyelashes,... |
OMIM:614008 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Sparse eyelashes, Concave nail, Abnormality of hair texture, Retrognathia, Hypoplas... |
OMIM:234050 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
|
Mandibular prognathia, Hypopigmentation of hair, Wide mouth, Hypopigmentation of the skin, Iris h... |
ORPHA:411515 |
Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigmented skin patches, Premature... |
ORPHA:895 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit... |
ORPHA:2250 |
Ayme-Gripp Syndrome |
|
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Broad eyebrow, Short stature, P... |
OMIM:601088 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal hair quantity, Abnormal fingernail morphology, Abnormal oral ... |
ORPHA:289 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thin upper lip vermilion, Short stature, Rhizomelia, Posteriorly rotated ears, Micrognathia, Post... |
OMIM:611209 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Thin upper lip vermilion, Dental crowding, Short stature, Postnatal growth retardation, Thick low... |
ORPHA:261323 |
Takenouchi-Kosaki Syndrome |
|
Thin upper lip vermilion, Posteriorly rotated ears, Highly arched eyebrow, Sparse eyebrow, Sensor... |
OMIM:616737 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Delayed eruption of teeth, Mild postnatal growth retardation, Sensorineural hearing impairment, H... |
OMIM:235510 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Sensorineural hearing impairment, Disproportionate short stature, Growth delay, ... |
ORPHA:89936 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, High palate, Conduc... |
ORPHA:861 |
Lelis Syndrome |
|
Mandibular prognathia, Yellow nails, Carious teeth, Perioral hyperpigmentation, Absent lower eyel... |
ORPHA:140936 |
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Abnormal dental enamel morphology, Sparse eyebrow, Scarring ... |
ORPHA:59303 |
Sjogren-Larsson Syndrome |
|
Enamel hypoplasia, Short stature |
OMIM:270200 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Micrognathia, Cupped ear, Microtia, High palate, Bilateral sen... |
ORPHA:40366 |
Squalene Synthase Deficiency |
|
Posteriorly rotated ears, Micrognathia, Retrognathia, Abnormality of hair pigmentation, Low-set e... |
OMIM:618156 |
Vitamin K Antagonist Embryofetopathy |
|
Macroglossia, Microtia, Hearing impairment, Intrauterine growth retardation |
ORPHA:1914 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands |
OMIM:300291 |
Oculofaciocardiodental Syndrome |
|
Delayed eruption of teeth, Highly arched eyebrow, Abnormality of the dentition, Sensorineural hea... |
ORPHA:2712 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Microtia |
OMIM:612138 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal hair quantity, Abnormal eyebrow morphology, Abnormality of nail color, Short stature, Ab... |
ORPHA:3220 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Protruding ear, Sparse hair, Dystrophic fingernails, Anodontia, Alopecia... |
ORPHA:3253 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Exaggerated cupid's bow, Small earlobe, Hearing impairment, Abnormali... |
ORPHA:364577 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Short stature, Abnormal dental ename... |
ORPHA:1452 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Micrognathia, Abnormality of hair texture, Synophrys, Abnormality of dermal melanosomes, Dental m... |
ORPHA:73223 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Yellow-brown disco... |
ORPHA:1946 |
Holoprosencephaly 9 |
|
Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Agenesis... |
OMIM:610829 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Micrognathia, Carious teeth, Sensorineural hearing impairment, Abnorma... |
OMIM:214150 |
48,Xxyy Syndrome |
|
Broad jaw, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, Carious teeth... |
ORPHA:10 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Mandibular prognathia, Rhizomelia, Posteriorly rotated ears, Abnormality of the dentition, Growth... |
OMIM:614813 |
Localized Scleroderma |
|
Abnormal skin adnexa morphology, Abnormality of the dentition, Dental malocclusion, Abnormal faci... |
ORPHA:90289 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Microtia |
OMIM:618158 |
Phelan-Mcdermid Syndrome |
|
Micrognathia, Hypoplastic toenails, Dental malocclusion, Protruding ear, High palate, Widely spac... |
OMIM:606232 |
Congenital Disorder Of Deglycosylation 2 |
|
Hamartoma of tongue, Micrognathia, Highly arched eyebrow, Macroglossia, Microtia, High palate, Cl... |
OMIM:619775 |
Hutchinson-Gilford Progeria Syndrome |
|
Short lingual frenulum, Dental crowding, Micrognathia, High palate, Conductive hearing impairment... |
ORPHA:740 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morph... |
ORPHA:1782 |
Waardenburg Syndrome, Type 4B |
|
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... |
OMIM:613265 |
Frontometaphyseal Dysplasia 1 |
|
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... |
OMIM:305620 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Tented upper lip vermilion, External ear malformation, Abnormality of p... |
ORPHA:438216 |
Beta-Mercaptolactate Cysteine Disulfiduria |
|
Low-set, posteriorly rotated ears, High palate, Short stature, Hypoplasia of the ear cartilage |
ORPHA:1035 |
Pelvis-Shoulder Dysplasia |
|
Short stature, Abnormal pinna morphology, Micrognathia, Mesomelic/rhizomelic limb shortening, Mic... |
ORPHA:2839 |
Ohdo Syndrome, X-Linked |
|
Posteriorly rotated ears, Hearing impairment, Micrognathia, Sparse eyebrow, High anterior hairlin... |
OMIM:300895 |
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome |
|
Microtia |
ORPHA:139450 |
Acrodysostosis 2 With Or Without Hormone Resistance |
|
Mandibular prognathia, Fair hair, Blue irides, Red hair, Malar flattening, Mild short stature, In... |
OMIM:614613 |
Oculocerebral Syndrome With Hypopigmentation |
|
Growth delay, Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Johanson-Blizzard Syndrome |
|
Delayed eruption of teeth, Alopecia, Short stature, Abnormal hair pattern, Abnormality of the den... |
ORPHA:2315 |
Ermine Phenotype |
|
White eyelashes, White eyebrow, Albinism, Sensorineural hearing impairment, White hair, Spotty hy... |
OMIM:227010 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Short stature, Sparse eyelashes, Micr... |
ORPHA:2067 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Mixed hearing impairment, Delayed eruption of permanent teeth, Broad alveo... |
OMIM:218400 |
Scalp-Ear-Nipple Syndrome |
|
Mandibular prognathia, Underdeveloped antitragus, Anteverted ears, Protruding ear, Sparse hair, S... |
OMIM:181270 |
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Posteriorly rotated ears, Narrow mouth, Absent axillary hair, Cleft pal... |
OMIM:601353 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, Disproportionate sh... |
ORPHA:263463 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Oral mucosal blisters, Growth delay, Nail dystrophy, Nail dysplasia, Narrow mouth, Enam... |
OMIM:226600 |
Hajdu-Cheney Syndrome |
|
Thick eyebrow, Short stature, Short nail, Micrognathia, Absent frontal sinuses, Synophrys, Dental... |
OMIM:102500 |
Sclerosteosis 1 |
|
Mandibular prognathia, Dental malocclusion, Facial palsy secondary to cranial hyperostosis, Nail ... |
OMIM:269500 |
Fg Syndrome Type 1 |
|
Dental crowding, Short stature, Micrognathia, Sensorineural hearing impairment, Cupped ear, Wide ... |
ORPHA:93932 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short stature, Highly arched eyebrow, Abnormality of the dentition, Low anterior hairline, Low po... |
OMIM:615802 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Thin upper lip vermilion, Brittle hair, Short stature, Carious teeth, ... |
OMIM:607812 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short stature, Postnatal growth retardation, Deep philtrum, Microtia, Low-set ears |
OMIM:613320 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Abnormal hair pattern, Hypoplasia of the maxilla, Absent eyelashes, Fine hair, Wi... |
ORPHA:920 |
Isotretinoin-Like Syndrome |
|
Micrognathia, Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear, Cleft palate, An... |
ORPHA:2306 |
Waardenburg Syndrome, Type 2A |
|
White eyelashes, White eyebrow, Partial albinism, Albinism, Sensorineural hearing impairment, Syn... |
OMIM:193510 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Short stature, Posteriorly rotated ears, Sparse axillary hair, Micrognathia, H... |
OMIM:613803 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, High, ... |
ORPHA:2919 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Orofacial cleft, Short stature, Persistence of primary teeth, Ging... |
ORPHA:97360 |
Marshall Syndrome |
|
Short stature, Malar flattening, Micrognathia, Absent frontal sinuses, Sensorineural hearing impa... |
OMIM:154780 |
Ring Chromosome 12 Syndrome |
|
High, narrow palate, Growth delay, Dystrophic toenail, Microtia, Low-set ears, Breast hypoplasia,... |
ORPHA:1439 |
Monosomy 18P |
|
Alopecia, Short stature, Micrognathia, Carious teeth, Cleft palate, Protruding ear, Downturned co... |
ORPHA:1598 |
Osteogenesis Imperfecta, Type X |
|
Rhizomelia, Short stature, Micrognathia, Malar flattening, Dentinogenesis imperfecta |
OMIM:613848 |
Myopathy, Centronuclear, X-Linked |
|
High palate, Dental malocclusion |
OMIM:310400 |
Microtia |
|
Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Hypoplastic ... |
ORPHA:83463 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Short stature, Thick hair, Abnormality of the dentition, ... |
ORPHA:769 |
Osteopathia Striata With Cranial Sclerosis |
|
Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Short stature, Posteriorly rotated ears... |
OMIM:300373 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Low-set, posteriorly rotated ears, Micrognathia, Postnatal growth retardation, Downturned corners... |
ORPHA:254525 |
Acrocephalopolydactyly |
|
Microtia |
ORPHA:221054 |
Acrofacial Dysostosis, Rodríguez Type |
|
Microretrognathia, Malar flattening, Microtia, Intrauterine growth retardation |
ORPHA:1788 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Posteriorly rotated ears, Protruding tongue, Absent frontal sinuses, Diast... |
OMIM:301040 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Short stature, Hypoplasia of the maxilla, Open ... |
ORPHA:950 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Gingival bleeding, Albinism |
OMIM:614072 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short stature, Micrognathia, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, A... |
OMIM:616894 |
Incontinentia Pigmenti |
|
Delayed eruption of teeth, Ridged nail, Alopecia, Short stature, Supernumerary nipple, Conical to... |
OMIM:308300 |
Scarf Syndrome |
|
Low-set, posteriorly rotated ears, Low posterior hairline, Hypoplastic nipples, Long philtrum, Sp... |
ORPHA:3134 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Natal tooth, Micrognathia, Long eyelashes, Bilateral conductive hearing impairment, Low-set ears |
OMIM:617802 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Curly eyelashes, Postnatal growth retardation, Thick lower lip vermilion, Rhizo-meso-acromelic li... |
OMIM:611717 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Abnormal pinna morphology, Protruding tongue, Persistence of ... |
OMIM:610253 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Microtia, Oral mucosal blisters |
OMIM:619817 |
Piebald Trait-Neurologic Defects Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Sensorineural... |
ORPHA:2885 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Short stature, Curly eyelashes, Micrognathia, Cleft lip, Sensorineural ... |
OMIM:301022 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,... |
OMIM:618975 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Severe short stature, Posteriorly rotated ears, Micrognathia, High, na... |
ORPHA:2780 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Mixed hearing impairment, Posteriorly rotated ears, Micrognathia, Carious teeth, Postnatal growth... |
ORPHA:536467 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... |
OMIM:614753 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Retrognathia, Microtia |
OMIM:212112 |
Immunodeficiency 49 |
|
Natal tooth, Posteriorly rotated ears, Micrognathia, Short philtrum, Hirsutism |
OMIM:617237 |
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Oligodontia, Hypodontia, Sparse hair, Ena... |
OMIM:607626 |
Kagami-Ogata Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Microtia, Long philtrum, Frontal hirsutism, Retrognathia |
OMIM:608149 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Micrognathia, Short philtrum, High palate, Chronic otitis media, Low-set,... |
ORPHA:96121 |
Acquired Hypertrichosis Lanuginosa |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Macroglossia, Glossitis, Genera... |
ORPHA:2221 |
Cockayne Syndrome A |
|
Mandibular prognathia, Dry hair, Short stature, Abnormal pinna morphology, Delayed eruption of pr... |
OMIM:216400 |
Snijders Blok-Campeau Syndrome |
|
Taurodontia, High palate, Widely spaced teeth, Low-set ears, Enamel hypoplasia |
OMIM:618205 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Short stature, Sparse eyelashes, Micrognathia, Carious teeth, Postnatal growth retardation, Macro... |
OMIM:613026 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Delayed eruption of teeth, Natal tooth, Short stature, Growth delay, Oligodontia, Hypodontia |
OMIM:614381 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Anotia, Bifid uvula, Microtia, thir... |
ORPHA:2554 |
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia |
|
Oral mucosal blisters, Nail dystrophy, Nail dysplasia, Enamel hypoplasia, Anonychia |
OMIM:226730 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Sparse scalp hair, Dental crowding, Abnormality ... |
OMIM:618371 |
Oculodentodigital Dysplasia |
|
Dry hair, Abnormal pinna morphology, Selective tooth agenesis, Slow-growing hair, Cleft upper lip... |
OMIM:164200 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Raine Syndrome |
|
Mandibular prognathia, Natal tooth, Mixed hearing impairment, Short stature, Posteriorly rotated ... |
OMIM:259775 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Short stature, Micrognathia, Hy... |
OMIM:170390 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Thin upper lip vermilion, Short stature, Posteriorly rotated ears, Uplifted earlobe, Micrognathia... |
OMIM:616734 |
Distal Triplication 15Q |
|
Micrognathia, Sensorineural hearing impairment, Cupped ear, Microtia, High palate, Low-set ears, ... |
ORPHA:314588 |
Coffin-Lowry Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormality of retinal pigmentation, Abnorm... |
ORPHA:192 |
Diabetic Embryopathy |
|
Low-set, posteriorly rotated ears, Micrognathia, Cleft palate, Microtia, Hearing impairment |
ORPHA:1926 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Micrognathia, High, narrow palate, Cleft palate, Glossoptosis, Microtia, Abnormality of frontal s... |
ORPHA:436003 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Conductive hearing impairment, Velopharyngeal insufficiency, No... |
ORPHA:199302 |
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Highly arched eyebrow, Downturned corners of mouth, Everted lower lip vermilion, Widely spaced te... |
OMIM:617865 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Micrognathia, Downturned corners of mouth, Severe sensorineural hearing impairmen... |
OMIM:620186 |
Genitopatellar Syndrome |
|
Delayed eruption of teeth, Sparse scalp hair, Short stature, Micrognathia, Fine hair, Low-set ear... |
ORPHA:85201 |
Neuroectodermal Melanolysosomal Disease |
|
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... |
ORPHA:33445 |
Brachydactyly, Type B1 |
|
Anonychia, Delayed eruption of permanent teeth, Hypoplastic fingernail |
OMIM:113000 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... |
OMIM:203200 |
20Q11.2 Microduplication Syndrome |
|
Low-set, posteriorly rotated ears, Tented upper lip vermilion, Tented philtrum, Gingival overgrow... |
ORPHA:363659 |
Cockayne Syndrome B |
|
Mandibular prognathia, Dry hair, Severe short stature, Abnormal pinna morphology, Delayed eruptio... |
OMIM:133540 |
Teebi Hypertelorism Syndrome 1 |
|
Thin upper lip vermilion, Natal tooth, Dental crowding, Short stature, Highly arched eyebrow, Mic... |
OMIM:145420 |
Hypotrichosis 8 |
|
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... |
OMIM:278150 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Carious teeth, Growth delay, Enamel hypoplasia, Alopecia universalis, ... |
OMIM:277440 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Severe short stature, Exaggerated cupid's bow, Posteriorly rotated ears, Narrow mouth, Conductive... |
ORPHA:2215 |
Bone Marrow Failure Syndrome 3 |
|
Short stature, Hearing impairment, Micrognathia, Cupped ear, Oral ulcer, Downturned corners of mo... |
OMIM:617052 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Short stature, Oligodontia, Hypodontia, Delayed puberty |
ORPHA:447896 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Abnormality of the dentition, Abnormal hair morphology, Paronychia, Cl... |
ORPHA:2314 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Microdontia, Cleft ... |
OMIM:604292 |
Tarp Syndrome |
|
Posteriorly rotated ears, Micrognathia, Cleft palate, Prominent antihelix, Glossoptosis, Microtia... |
OMIM:311900 |
Hennekam-Beemer Syndrome |
|
Generalized hyperpigmentation, Short stature, Micrognathia, Thick lower lip vermilion, Abnormalit... |
ORPHA:2135 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
High palate, Persistence of primary teeth |
OMIM:147060 |
Rothmund-Thomson Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Selective tooth agen... |
ORPHA:2909 |
Leukocyte Adhesion Deficiency Type Ii |
|
Mandibular prognathia, Small earlobe, Severe periodontitis, Short stature, Protruding tongue, Con... |
ORPHA:99843 |
Anti-Glomerular Basement Membrane Disease |
|
Persistence of primary teeth |
ORPHA:375 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... |
ORPHA:98795 |
Waardenburg Syndrome, Type 3 |
|
Mandibular prognathia, Partial albinism, Sensorineural hearing impairment, Synophrys, Blue irides... |
OMIM:148820 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Tented upper lip vermilion, Short stature, High, narrow palate, Synophrys, Nail pits, Growth dela... |
OMIM:618076 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... |
ORPHA:897 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Tented upper lip vermilion, Highly a... |
ORPHA:487796 |
Amelogenesis Imperfecta, Type Ig |
|
Dagger-shaped pulp calcifications, Gingival fibromatosis, Gingival overgrowth, Delayed eruption o... |
OMIM:204690 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Oligodontia, Conduc... |
OMIM:129900 |
3M Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Protruding ear, Ever... |
ORPHA:2616 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Absent brainstem auditory responses, Hypermelanotic macule, Delayed erupti... |
ORPHA:90321 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Short stature, Dental malocclusion, Disproportionate short-trunk short... |
ORPHA:1855 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Abnormal oral mucosa morphology, Abnormality of the den... |
ORPHA:659 |
Trichohepatoenteric Syndrome 1 |
|
Curly hair, Brittle hair, Short stature, Narrow mouth, Woolly hair, Fine hair, Wide mouth, Microt... |
OMIM:222470 |
Singleton-Merten Syndrome 1 |
|
Thin upper lip vermilion, Short stature, Hypoplasia of the maxilla, Carious teeth, High anterior ... |
OMIM:182250 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... |
OMIM:256710 |
Zimmermann-Laband Syndrome 1 |
|
Mandibular prognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, High palate... |
OMIM:135500 |
Familial Adenomatous Polyposis |
|
Abnormality of the dentition, Supernumerary tooth, Eruption failure, Odontoma, Abnormal cementum ... |
ORPHA:733 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Abnormality of retinal pigmentation, Severe short stature, Short statu... |
OMIM:309900 |
Ramon Syndrome |
|
Delayed eruption of teeth, Short stature, Gingival fibromatosis, Narrow palate, Hypertrichosis, P... |
OMIM:266270 |
Scarf Syndrome |
|
Posteriorly rotated ears, Low anterior hairline, Low posterior hairline, Hypoplastic nipples, Low... |
OMIM:312830 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Short stature, Microtia, Long philtrum, Conductive hearing impairment, Malar flattening, Stenosis... |
OMIM:171480 |
Osteogenesis Imperfecta, Type Viii |
|
Disproportionate short-limb short stature, Dentinogenesis imperfecta |
OMIM:610915 |
Orofaciodigital Syndrome Xix |
|
Underfolded helix, Cleft soft palate, Accessory oral frenulum, Carious teeth, Cupped ear, Additio... |
OMIM:620107 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Micrognathia, Intrau... |
ORPHA:2050 |
Fgfr2-Related Bent Bone Dysplasia |
|
Overfolding of the superior helices, Natal tooth, Micrognathia, Gingival overgrowth, Low-set ears... |
ORPHA:313855 |
Osteopetrosis, Autosomal Recessive 3 |
|
Dental malocclusion, Short stature |
OMIM:259730 |
Vogt-Koyanagi-Harada Disease |
|
Abnormal eyebrow morphology, Sparse scalp hair, Short stature, Poliosis, Abnormal eyelash morphol... |
ORPHA:3437 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Preauricular h... |
OMIM:154500 |
8P Inverted Duplication/Deletion Syndrome |
|
Frontal balding, Micrognathia, High, narrow palate, Macrotia, Synophrys, Abnormality of dental er... |
ORPHA:96092 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo... |
OMIM:225500 |
Monosomy 9P |
|
Thin nail, Highly arched eyebrow, Micrognathia, Abnormality of the dentition, Synophrys, Cleft pa... |
ORPHA:261112 |
Frank-Ter Haar Syndrome |
|
Thin upper lip vermilion, Micrognathia, Dental malocclusion, Gingival overgrowth, Protruding ear,... |
OMIM:249420 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Short stature, Poster... |
OMIM:619148 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Broad jaw, Dental crowding, Micrognathia, Submucous cleft lip, Cleft p... |
ORPHA:96170 |
46,Xy Sex Reversal 4 |
|
Micrognathia, Sensorineural hearing impairment, Cleft palate, Microtia, High palate, Long philtru... |
OMIM:154230 |
Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, High, narrow palate, Sensorineural hearing impai... |
ORPHA:53271 |
Au-Kline Syndrome |
|
Supernumerary nipple, Sensorineural hearing impairment, Dental malocclusion, Bifid tongue, Cleft ... |
OMIM:616580 |
Cousin Syndrome |
|
Rhizomelia, Posteriorly rotated ears, Micrognathia, Disproportionate short stature, Low anterior ... |
OMIM:260660 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Tented upper lip vermilion, Short stature, Microtia, Thick vermilion border, Low-set ears, Malar ... |
OMIM:616723 |
Sotos Syndrome |
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Mandibular prognathia, Posteriorly rotated ears, Sparse eyebrow, High, narrow palate, Conductive ... |
OMIM:117550 |
Waardenburg Syndrome, Type 4A |
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White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... |
OMIM:277580 |
Galloway-Mowat Syndrome |
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Short stature, Abnormality of the dentition, Micrognathia, Hypoplasia of the ear cartilage, Intra... |
ORPHA:2065 |
Developmental And Epileptic Encephalopathy 41 |
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Delayed eruption of teeth |
OMIM:617105 |
Coffin-Lowry Syndrome |
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Mandibular prognathia, Short stature, Highly arched eyebrow, Sensorineural hearing impairment, Th... |
OMIM:303600 |
Smith-Magenis Syndrome |
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Mandibular prognathia, Tented upper lip vermilion, Short stature, Delayed eruption of primary tee... |
ORPHA:819 |
Faciocardiomelic Syndrome |
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Micrognathia, Dental malocclusion, Wide mouth, Short eyelashes, Long philtrum, Hyperplasia of the... |
OMIM:612731 |
Acrocallosal Syndrome |
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Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Prominent palati... |
OMIM:200990 |
Orofaciodigital Syndrome I |
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Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Alopecia, Short stature,... |
OMIM:311200 |
Multiple Pterygium Syndrome, Escobar Variant |
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Exostosis of the external auditory canal, Short stature, Micrognathia, Dental malocclusion, Cleft... |
OMIM:265000 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
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Posteriorly rotated ears, Abnormal pinna morphology, Micrognathia, Hypoplasia of the maxilla, Den... |
OMIM:182212 |
Kleefstra Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Tented upper lip vermilion, Exaggerated cupid's... |
ORPHA:261494 |
Aymé-Gripp Syndrome |
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Thin upper lip vermilion, Sparse scalp hair, Short stature, Posteriorly rotated ears, Postnatal g... |
ORPHA:1272 |
Mycophenolate Mofetil Embryopathy |
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Micrognathia, Hypoplastic toenails, Orofacial cleft, Anotia, Microtia, Atresia of the external au... |
ORPHA:268249 |
Faundes-Banka Syndrome |
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Thin upper lip vermilion, Sparse scalp hair, Micrognathia, Hypoplastic toenails, Cupped ear, Clef... |
OMIM:619376 |
Periventricular Nodular Heterotopia 9 |
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Everted upper lip vermilion, Posteriorly rotated ears, Hypoplastic philtrum, Synophrys, Gingival ... |
OMIM:618918 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
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Short stature, Cleft soft palate, Highly arched eyebrow, Micrognathia, Microtia, Submucous cleft ... |
ORPHA:2282 |
Waardenburg Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Hypopigmented skin patches, Oro... |
ORPHA:3440 |
Autosomal Recessive Faciodigitogenital Syndrome |
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Dry hair, Hypopigmentation of hair, Short stature, Posteriorly rotated ears, Micrognathia, Open b... |
ORPHA:1974 |
Incontinentia Pigmenti |
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Delayed eruption of teeth, Alopecia, Abnormal dental morphology, Abnormal dental enamel morpholog... |
ORPHA:464 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
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Mandibular prognathia, Low-set, posteriorly rotated ears, Carious teeth, Downturned corners of mo... |
ORPHA:1110 |
Schwartz-Jampel Syndrome |
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Low-set, posteriorly rotated ears, Pursed lips, Abnormal eyebrow morphology, Short stature, Long ... |
ORPHA:800 |
Rubinstein-Taybi Syndrome 1 |
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Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairl... |
OMIM:180849 |
Hypohidrotic Ectodermal Dysplasia |
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Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Slow-growing hair, Abnormality of ... |
ORPHA:238468 |
Pseudohypoparathyroidism, Type Ic |
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Delayed eruption of teeth, Enamel hypoplasia, Short stature |
OMIM:612462 |
Opitz-Kaveggia Syndrome |
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Dental crowding, Short stature, Cleft upper lip, Micrognathia, Sensorineural hearing impairment, ... |
OMIM:305450 |
Mohr Syndrome |
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Median cleft lip, Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla... |
OMIM:252100 |
Prader-Willi Syndrome Due To Imprinting Mutation |
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Hypopigmentation of the skin, Hypopigmentation of hair, Short stature, Iris hypopigmentation |
ORPHA:177910 |
Axial Mesodermal Dysplasia Spectrum |
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Microtia, Short stature, Gingival overgrowth, Micrognathia |
ORPHA:1834 |
Microphthalmia, Syndromic 2 |
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Delayed eruption of teeth, Thick eyebrow, Short stature, Posteriorly rotated ears, Asymmetry of t... |
OMIM:300166 |
Microphthalmia, Lenz Type |
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Delayed eruption of teeth, Low-set, posteriorly rotated ears, Short stature, Abnormal dental morp... |
ORPHA:568 |
Adnp Syndrome |
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Thin upper lip vermilion, Sparse scalp hair, Short stature, Thick lower lip vermilion, Hirsutism,... |
ORPHA:404448 |
Craniosynostosis And Dental Anomalies |
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Mandibular prognathia, Delayed eruption of teeth, Stapes ankylosis, Dental crowding, Short statur... |
OMIM:614188 |
Gaucher Disease, Perinatal Lethal |
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Everted upper lip vermilion, Micrognathia, Microtia, Everted lower lip vermilion, Low-set ears, N... |
OMIM:608013 |
49,Xxxxy Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Short stature, Abnormal dental enamel morpholog... |
ORPHA:96264 |
Andersen-Tawil Syndrome |
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Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Short stature, Micrognath... |
ORPHA:37553 |
Hallermann-Streiff Syndrome |
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Natal tooth, Alopecia, Sparse eyelashes, Proportionate short stature, Micrognathia, Abnormality o... |
ORPHA:2108 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
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Microretrognathia, Thin upper lip vermilion, Hypoplastic fingernail, Tented upper lip vermilion, ... |
ORPHA:280633 |
Kagami-Ogata Syndrome |
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Pursed lips, Micrognathia, Postnatal growth retardation, Microtia, Frontal hirsutism, Broad philtrum |
ORPHA:254519 |
Den Hoed-De Boer-Voisin Syndrome |
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Delayed eruption of teeth, Thick eyebrow, Posteriorly rotated ears, Carious teeth, Widow's peak, ... |
OMIM:619229 |
Hennekam Syndrome |
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Delayed eruption of teeth, Abnormal dental morphology, Abnormal oral mucosa morphology, Mild post... |
ORPHA:2136 |
Congenital Disorder Of Glycosylation, Type Iia |
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Mandibular prognathia, Sparse hair, Short stature, Diastema, Gingival overgrowth, Low-set ears, R... |
OMIM:212066 |
Angelman Syndrome Due To A Point Mutation |
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Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... |
ORPHA:411511 |
Koolen-De Vries Syndrome |
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Hypopigmentation of hair, Short stature, Abnormal dental enamel morphology, Abnormality of the de... |
ORPHA:96169 |
Fanconi Anemia, Complementation Group L |
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Micrognathia, Cleft palate, Growth delay, Anotia, Microtia, Low-set ears, Intrauterine growth ret... |
OMIM:614083 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
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Pulp calcification, Taurodontia, Enamel hypoplasia |
OMIM:211900 |
Dubowitz Syndrome |
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Delayed eruption of teeth, Sparse scalp hair, Short stature, Micrognathia, Carious teeth, Postnat... |
OMIM:223370 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
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Natal tooth, Abnormal pinna morphology, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palat... |
OMIM:617925 |
Emanuel Syndrome |
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Broad jaw, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Cleft palate, High p... |
OMIM:609029 |
Melnick-Needles Syndrome |
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Delayed eruption of teeth, Craniofacial hyperostosis, Short stature, Micrognathia, Tooth malposit... |
ORPHA:2484 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Alopecia, Pigmentary retinopathy, Tympanosclerosis, Nail dystrophy, Enamel hypoplasia, Alopecia u... |
OMIM:240300 |
Chromosome 16P13.3 Duplication Syndrome |
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Thin upper lip vermilion, Tented upper lip vermilion, Posteriorly rotated ears, Micrognathia, Syn... |
OMIM:613458 |
Oslam Syndrome |
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Carious teeth, Short stature |
ORPHA:2760 |
Cerebrofacioarticular Syndrome |
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Irregular dentition, Short stature, Micrognathia, Hypoplasia of the maxilla, Microtia, Narrow mou... |
ORPHA:314679 |
Pseudohypoparathyroidism, Type Ia |
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Delayed eruption of teeth, Enamel hypoplasia, Short stature |
OMIM:103580 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
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Anterior open-bite malocclusion |
ORPHA:83601 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
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Microretrognathia, Short stature, Rhizomelia, Micrognathia, Cleft palate, Low posterior hairline,... |
OMIM:245600 |
Meier-Gorlin Syndrome 1 |
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Incomplete partition of the cochlea type II, Hyperconvex nail, Micrognathia, Hypoplasia of the ma... |
OMIM:224690 |
Orofaciodigital Syndrome Type 4 |
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Abnormal oral mucosa morphology, Micrognathia, Hypoplastic toenails, High, narrow palate, Abnorma... |
ORPHA:2753 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Exaggerated cupid's bow, Supernumerary nipple, Open bite, High,... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Exaggerated median tongue furrow, Exaggerated cupid's bow, Supernumerary nipple, Open bite, High,... |
ORPHA:352665 |
Seckel Syndrome 7 |
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Intrauterine growth retardation, Severe short stature, Microtia |
OMIM:614851 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Carious teeth, Mandibular osteomyelitis, Persistence of primary teeth |
OMIM:259710 |
Warsaw Breakage Syndrome |
|
Hypermelanotic macule, Postnatal growth retardation, Hypoplasia of the cochlea, Cupped ear, Wide ... |
OMIM:613398 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Abnormal dental enamel morphology, Open bite, C... |
ORPHA:96263 |
Dubowitz Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Sparse scalp hair, Short stature, A... |
ORPHA:235 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Advanced eruption of teeth, Generalized hirsutism, Abnormality of the nail |
ORPHA:2348 |
Coffin-Siris Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Sparse scalp hair, Thick eyebrow, Postnatal ... |
ORPHA:1465 |
Distal Deletion 12Q |
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Median cleft lip, Short stature, Micrognathia, High, narrow palate, Supernumerary tooth, Prominen... |
ORPHA:96149 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Thin upper lip vermilion, Mixed hearing impairment, Dental crowding, S... |
OMIM:300990 |
White Forelock With Malformations |
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Low-set, posteriorly rotated ears, Deep philtrum, White forelock, Abnormal palate morphology |
ORPHA:2475 |
W Syndrome |
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Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of the scalp hair... |
ORPHA:2804 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 11 |
|
Microtia |
OMIM:620137 |
Oculocutaneous Albinism Type 3 |
|
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... |
ORPHA:79433 |
Silver-Russell Syndrome 3 |
|
Short stature, Postnatal growth retardation, Melanocytic nevus, Low-set ears, Retrognathia |
OMIM:616489 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Microtia, Hypoplasia of the zygomatic bone, Short philt... |
OMIM:613603 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Macrodontia of permanent maxillary central incisor, Retrognathia |
ORPHA:466722 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Short stature, Uplifted earlobe, Abnormality of the dentition, Thick lower lip vermi... |
ORPHA:261652 |
Osteogenesis Imperfecta |
|
Delayed eruption of teeth, Abnormality of dental color, Mixed hearing impairment, Short stature, ... |
ORPHA:666 |
Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Wide mouth, Growth delay, Frontal upsweep of hair, Microtia |
OMIM:617798 |
Pallister-Hall Syndrome |
|
Natal tooth, Short stature, Posteriorly rotated ears, Cleft upper lip, Cleft palate, Microtia, At... |
OMIM:146510 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Thin upper lip vermilion, Short stature, Microtia, High palate, Low-set ears, Stomatitis, Glossitis |
OMIM:277380 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Natal tooth, Micrognathia, Absent frontal sinuses, Disproportionate sh... |
OMIM:224300 |
De Barsy Syndrome |
|
Delayed eruption of teeth, Short stature, Postnatal growth retardation, Narrow mouth, Large earlo... |
ORPHA:2962 |
Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Short stature, Postnatal growth retardation, Recurrent aphthous stomatitis, Delayed pub... |
OMIM:212750 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Dental malocclusion, Cleft palate, Narrow palat... |
OMIM:101200 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Supernumerary tooth, High palate, Persistence of primary teeth |
OMIM:619752 |
Noonan Syndrome 1 |
|
Short stature, Micrognathia, Postnatal growth retardation, High, narrow palate, Sensorineural hea... |
OMIM:163950 |
Focal Dermal Hypoplasia |
|
Ridged nail, Linear hyperpigmentation, Brittle hair, Oligodontia, Absent fingernail, Sparse hair,... |
OMIM:305600 |
Microcephalic Primordial Dwarfism, Dauber Type |
|
Short stature, Bilateral breast hypoplasia, Severe postnatal growth retardation, Microtia, Severe... |
ORPHA:319675 |
Rothmund-Thomson Syndrome Type 1 |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Alopecia totalis, Ab... |
ORPHA:221008 |
Obesity Due To Prohormone Convertase I Deficiency |
|
Growth delay, Hypopigmentation of the skin, Red hair, Delayed puberty |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
|
Growth delay, Hypopigmentation of the skin, Red hair, Delayed puberty |
ORPHA:71526 |
Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Short stature, Posteriorly rotated ears, Micrognathia, Hypoplastic fron... |
OMIM:300712 |
Tetraamelia-Multiple Malformations Syndrome |
|
Narrow mouth, Microtia, Orofacial cleft, Micrognathia |
ORPHA:3301 |
Osteogenesis Imperfecta, Type Vii |
|
Rhizomelia, Short stature, Hearing abnormality, Long philtrum, Dentinogenesis imperfecta |
OMIM:610682 |
Mandibuloacral Dysplasia |
|
Alopecia, Dental crowding, Micrognathia, Postnatal growth retardation, Abnormal tongue morphology... |
ORPHA:2457 |
Myhre Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Short stature, Hearing impairment, Hypoplasia of... |
OMIM:139210 |
Cornelia De Lange Syndrome 1 |
|
Micrognathia, High, narrow palate, Synophrys, Downturned corners of mouth, Widely spaced teeth, H... |
OMIM:122470 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Anteverted ears, Downturned corners of mouth, Short philtrum, Chronic otit... |
OMIM:616268 |
Lacrimoauriculodentodigital Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Abnormal dental enamel morphology, Micrognat... |
ORPHA:2363 |
Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Micrognathia, Carious teeth,... |
ORPHA:742 |
Bloom Syndrome |
|
Postnatal growth retardation, Hypertrichosis, Agenesis of maxillary lateral incisor, Protruding e... |
OMIM:210900 |
Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Severe short stature, Posteriorly rotated ears, Cleft palate, Microtia, Thick ... |
OMIM:616835 |
Rothmund-Thomson Syndrome Type 2 |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Alopecia totalis, Ab... |
ORPHA:221016 |
Bartsocas-Papas Syndrome 1 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Cleft upper lip, Hypoplasia of the... |
OMIM:263650 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Low-set ears, Aplasia/Hypoplasia of the external ear |
ORPHA:168486 |
Hoyeraal-Hreidarsson Syndrome |
|
Sparse scalp hair, Generalized hyperpigmentation, Short stature, Generalized hypopigmentation of ... |
ORPHA:3322 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Oral mucosal blisters, Onychogryposis, Depigmentation/hyperpigmentation of skin, Genera... |
ORPHA:79396 |
Parietal Foramina With Cleidocranial Dysplasia |
|
Microtia |
OMIM:168550 |
17Q24.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Otosclerosis, Micrognathia, Synophrys, Microtia, Short philtrum, Recurr... |
ORPHA:529962 |
Cranioectodermal Dysplasia 4 |
|
Short stature, Onychogryposis, Protruding ear, Thin vermilion border, Taurodontia, Smooth philtrum |
OMIM:614378 |
Branchiooculofacial Syndrome |
|
Micrognathia, Premature graying of hair, Sparse hair, Conductive hearing impairment, Hypoplastic ... |
OMIM:113620 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Micrognathia, Severe postnatal growth retardation, Microtia, Thick vermilion border, Sparse hair,... |
OMIM:620005 |
Chand Syndrome |
|
Curly hair, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenesi... |
ORPHA:1401 |
Adult Syndrome |
|
Premature loss of permanent teeth, Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary h... |
OMIM:103285 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Mandibular prognathia, Lip pit, Supernumerary nipple, Large earlobe, Hypodontia, Hypoplasia of th... |
ORPHA:1236 |
Trichothiodystrophy |
|
Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Hypoplasia of mandible relative to maxi... |
ORPHA:33364 |
Toriello-Carey Syndrome |
|
Short stature, Abnormal pinna morphology, Micrognathia, Postnatal growth retardation, Sparse eyeb... |
ORPHA:3338 |
Fraser Syndrome 1 |
|
Absent eyebrow, Dental crowding, Abnormal pinna morphology, Cleft upper lip, Absent eyelashes, Cu... |
OMIM:219000 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Dental crowding, Persistence of primary teeth |
OMIM:619769 |
Insulin-Like Growth Factor I Deficiency |
|
Short stature, Micrognathia, Postnatal growth retardation, Sensorineural hearing impairment, Intr... |
OMIM:608747 |
Carpenter Syndrome 1 |
|
Short stature, Abnormal pinna morphology, Persistence of primary teeth, Hypoplasia of the maxilla... |
OMIM:201000 |
Cockayne Syndrome |
|
High-frequency sensorineural hearing impairment, Abnormality of retinal pigmentation, Dry hair, S... |
ORPHA:191 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Sensorineural hearing impairment, Growth delay, Microtia, Hypoplasia of the zygomatic bone, High ... |
OMIM:618500 |
Van Esch-O'Driscoll Syndrome |
|
Short stature, Protruding ear, Downturned corners of mouth, Wide mouth, Growth delay, Microtia, I... |
OMIM:301030 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Underdeveloped superior crus of antihelix,... |
ORPHA:369950 |
Mccune-Albright Syndrome |
|
Large cafe-au-lait macules with irregular margins, Dental malocclusion, Abnormal facial skeleton ... |
ORPHA:562 |
Microtia-Anotia |
|
Anotia, Microtia |
OMIM:600674 |
Charge Syndrome |
|
Delayed eruption of teeth, Low-set, posteriorly rotated ears, Short stature, Highly arched eyebro... |
ORPHA:138 |
Ermine Phenotype |
|
Hypopigmentation of hair, Short stature, Sensorineural hearing impairment, Ocular albinism, Hypop... |
ORPHA:999 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair |
ORPHA:1067 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Growth delay, Intrauterine growth retardation, Enamel hypoplasia, Retrognathia |
OMIM:614576 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Abnormal dental enamel morphology, Abnormality ... |
ORPHA:2323 |
Carney Complex, Type 1 |
|
Palatine myxoma, Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism |
OMIM:160980 |
Ctcf-Related Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Highly arched eyebrow, Abnormality o... |
ORPHA:363611 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Micrognathia, Hypoplasia of the maxilla, Protruding ear, Conical incisor,... |
OMIM:261540 |
Vacterl With Hydrocephalus |
|
Microtia, third degree, Micrognathia, Anotia, Intrauterine growth retardation, Retrognathia, Abno... |
ORPHA:3412 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Growth delay |
OMIM:264700 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Enamel hypoplasia, Postnatal growth retardation, Short stature |
ORPHA:289157 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... |
OMIM:180700 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Posteriorly rotated ears, Gingival overgrowth, Narrow palate, High palate, Atresia o... |
OMIM:123790 |
Monosomy 22Q13.3 |
|
Dental crowding, Hypoplastic toenails, Dental malocclusion, Long eyelashes, Malar flattening, Mac... |
ORPHA:48652 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Natal tooth, Dental crowding, Short stature, Carious teeth, Pilomatrixoma, Supernumerary tooth, T... |
ORPHA:353281 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Short stature, Frontal open bite, Micrognathia, Postnatal growth retardation, Gingival overgrowth... |
OMIM:225410 |
Obesity And Hypopigmentation |
|
Red hair |
OMIM:620195 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Sparse h... |
OMIM:305100 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Thin upper lip vermilion, Abnormal pinna morphology, Anteverted ears, Deep philtrum, Growth delay... |
OMIM:617641 |
Ankyloglossia With Or Without Tooth Anomalies |
|
Supernumerary tooth, Ankyloglossia |
OMIM:106280 |
Cog1-Cdg |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Rhizomelia, Micrognathia, Postnatal ... |
ORPHA:263508 |
Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Hypoplastic fingernail, Microtia, third degree, Absent eyelashes, Microtia, first... |
OMIM:200110 |
Cleidocranial Dysplasia 2 |
|
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth, Hearing impair... |
OMIM:620099 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of permanent teeth, Short phi... |
ORPHA:521445 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Microretrognathia, Natal tooth, Rhizomelia, Hamartoma of tongue, Sparse eyebrow, Cleft lip, Macro... |
OMIM:616300 |
Cleidocranial Dysplasia 1 |
|
Short stature, Delayed eruption of primary teeth, Micrognathia, Absent frontal sinuses, High, nar... |
OMIM:119600 |
Cranioectodermal Dysplasia 1 |
|
Rhizomelia, Thin nail, Short nail, Slow-growing hair, High, narrow palate, Protruding ear, Fine h... |
OMIM:218330 |
Oculocutaneous Albinism Type 4 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... |
ORPHA:79435 |
Doors Syndrome |
|
Short lingual frenulum, Low anterior hairline, Downturned corners of mouth, Widely spaced teeth, ... |
ORPHA:79500 |
Humeroradial Synostosis |
|
Small earlobe, Microtia |
OMIM:236400 |
Holoprosencephaly 13, X-Linked |
|
Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Microtia, Low-set ears... |
OMIM:301043 |
Carpenter Syndrome 2 |
|
Posteriorly rotated ears, Highly arched eyebrow, Supernumerary nipple, Carious teeth, High, narro... |
OMIM:614976 |
Meier-Gorlin Syndrome 7 |
|
Short stature, Sensorineural hearing impairment, Cleft palate, Growth delay, Microtia, High palat... |
OMIM:617063 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Short stature, Persistence of primary teeth, Carious teeth, Postnatal growth retardation, Growth ... |
ORPHA:93325 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Posteriorly rotated ears, Micrognathia, Clef... |
OMIM:247200 |
Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Short stature, Premature graying of hair, Delayed puberty, Multiple caf... |
ORPHA:100 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Congenita... |
OMIM:193500 |
Menke-Hennekam Syndrome 1 |
|
Short ear, Thin upper lip vermilion, Everted upper lip vermilion, Prominent inferior crus of anti... |
OMIM:618332 |
Wolf-Hirschhorn Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of the philtrum, Highly arched eyebrow, Micrognath... |
ORPHA:280 |
Piebald Trait With Neurologic Defects |
|
White forelock, Absent pigmentation of the ventral chest, Hearing impairment |
OMIM:172850 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of hair, Short stature, Growth delay, Intrauterine growth retardation, Cafe-au-l... |
OMIM:618541 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Dental malocclusion, High palate, Malar flattening, Retrognathia, Bifid uvula |
OMIM:601552 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Delayed eruption of teeth, Short nail, Deep philtrum, Large earlobe, High palate, Long eyelashes,... |
ORPHA:1675 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Natal tooth, Dental crowding, Short stature, Highly arched eyebrow, Micrognathia, Carious teeth, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Natal tooth, Dental crowding, Short stature, Highly arched eyebrow, Micrognathia, Carious teeth, ... |
ORPHA:353277 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Mandibular prognathia, Hypopigmentation of hair, Protruding tongue, Wide mouth, Widely spaced tee... |
ORPHA:98794 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Sensorineural hearin... |
ORPHA:87 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Short stature, Micrognathia, Abnormality of the dentition, Sensorineural h... |
OMIM:151050 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple, Cleft upper lip, Conical tooth, Micrognathia, Postnatal growth retardation,... |
OMIM:263750 |
Piebald Trait |
|
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, Abnormality of the ear, W... |
OMIM:172800 |
Hermansky-Pudlak Syndrome 2 |
|
Aberrant melanosome maturation, Thin upper lip vermilion, Posteriorly rotated ears, Albinism, Car... |
OMIM:608233 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Obtuse angle of mandible, Micrognathia, Frontal hirsutism, Cleft palat... |
OMIM:309350 |
Hermansky-Pudlak Syndrome 1 |
|
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... |
OMIM:203300 |
Saethre-Chotzen Syndrome |
|
Short stature, Hypoplasia of the maxilla, Prominent crus of helix, Cleft of chin, Low anterior ha... |
OMIM:101400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Retrognathia, Microtia, Low-set ears |
OMIM:614643 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Delayed eruption of teeth, Short stature, Hypermelanotic macule, Micrognathia, Hypoplasia of the ... |
OMIM:259600 |
Eec Syndrome |
|
Short stature, Abnormal dental enamel morphology, Slow-growing hair, Carious teeth, External ear ... |
ORPHA:1896 |
Fanconi Anemia, Complementation Group F |
|
Short stature, Microtia, Conductive hearing impairment, Intrauterine growth retardation, Cafe-au-... |
OMIM:603467 |
Fraser Syndrome |
|
Low-set, posteriorly rotated ears, Dental crowding, Abnormal hair pattern, Cleft upper lip, Exter... |
ORPHA:2052 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Protruding ear, ... |
ORPHA:534 |
Familial Multiple Lipomatosis |
|
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw |
ORPHA:199276 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Delayed eruption of teeth, Uplifted earlobe, Highly arched eyebrow, Cleft lip, Conductive hearing... |
OMIM:280000 |
Specc1L-Related Hypertelorism Syndrome |
|
Highly arched eyebrow, Widow's peak, Orofacial cleft, Thin vermilion border, Everted lower lip ve... |
ORPHA:1519 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Sensorineura... |
OMIM:601812 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Scarring alopecia of scalp, Microtia, Nail dystrophy, Oral mucosal blisters |
ORPHA:158684 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Delayed eruption of teeth, Short stature, Rhizomelia, Highly arched eyebrow, Sparse eyebrow, Micr... |
OMIM:143095 |
Dyskeratosis Congenita |
|
Hypoplasia of the maxilla, White hair, Premature graying of hair, Periodontitis, Sparse hair, Alo... |
ORPHA:1775 |
Xfe Progeroid Syndrome |
|
Premature loss of teeth, Severe short stature, Enamel hypoplasia, Hearing impairment |
OMIM:610965 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Micrognathia, Generalized hirsutism, Premature graying of hair, Advanced eruption of teeth, Abnor... |
ORPHA:280365 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Rhizomelia, Protruding tongue, Micrognathia, Low-set ears, Long philtrum, Malar flat... |
ORPHA:50945 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Short stature, Posteriorly... |
OMIM:268310 |
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities |
|
Short ear, Short stature, Posteriorly rotated ears, Micrognathia, Thick lower lip vermilion, Prot... |
OMIM:614756 |
Hermansky-Pudlak Syndrome 11 |
|
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Gingival bleeding, F... |
OMIM:619172 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Conical tooth, Short philtrum, High palate, Microdontia, Short stature, Low-set ears, R... |
OMIM:135900 |
Codas Syndrome |
|
Delayed eruption of teeth, Short stature, Sensorineural hearing impairment, Conductive hearing im... |
OMIM:600373 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Thin upper lip vermilion, Short stature, Posteriorly rotated ears, Cleft palate, Microtia, Short ... |
ORPHA:163979 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Short stature, Abnormality of the dentition, Reticulated skin pigmentation, Premature graying of ... |
OMIM:613989 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Orofacial cleft, Low-set ears, Nar... |
ORPHA:77301 |
Oculocutaneous Albinism Type 1 |
|
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... |
ORPHA:352731 |
Isolated Arrhinia |
|
Microtia, Hypoplasia of the nasal bone |
ORPHA:1134 |
Prader-Willi Syndrome Due To Translocation |
|
Thin upper lip vermilion, Hypopigmentation of hair, Short stature, Hyperpigmentation of the skin,... |
ORPHA:177907 |
Mast Cell Sarcoma |
|
Hypoplasia of the ear cartilage |
ORPHA:66661 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Short stature, Sensorineural hearing impairment, Ocular albinism, Growt... |
ORPHA:2719 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Short stature, Dental crowding, Delayed eruption of primary teeth, Thin nail, Growth delay, Widel... |
OMIM:617799 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Median cleft lip, Posteriorly rotated ears, Abnormal pinna morphology, Hamartoma of ... |
OMIM:269860 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Mixed hearing impairment, Absence of Stensen duct, Delayed eruption of primary teeth, Aplasia of ... |
OMIM:149730 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cleft upper lip, Micrognathia, Cleft palate, Microtia, Atresia of the external auditory canal, Lo... |
OMIM:236670 |
Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Enamel hypoplasia, Nail dystrophy, Oral mucosal blisters |
ORPHA:79403 |
Wrinkly Skin Syndrome |
|
Microretrognathia, Delayed eruption of teeth, Short stature, Short nail, Carious teeth, Fragile n... |
OMIM:278250 |
Helsmoortel-Van Der Aa Syndrome |
|
Thin upper lip vermilion, Short stature, Posteriorly rotated ears, Carious teeth, High, narrow pa... |
OMIM:615873 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Short stature, Carious teeth, Postnatal growth retardation, High palat... |
ORPHA:2834 |
Smith-Lemli-Opitz Syndrome |
|
Low-set, posteriorly rotated ears, Hypopigmentation of hair, Abnormal dental morphology, Abnormal... |
ORPHA:818 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Short ear, Narrow mouth, Thick lower lip vermilion, Mesiodens, Long philtrum |
ORPHA:314647 |
Opitz Gbbb Syndrome |
|
Natal tooth, Short stature, Posteriorly rotated ears, Micrognathia, Cleft lip, Widow's peak, Clef... |
ORPHA:2745 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Delayed eruption of teeth, Short stature, Alveolar ridge overgrowth, Gingival overgrowth, Widely ... |
OMIM:301072 |
Pseudohypoparathyroidism Type 1B |
|
Delayed eruption of teeth, Enamel hypoplasia, Short stature |
ORPHA:94089 |
Diamond-Blackfan Anemia |
|
Short stature, Cleft soft palate, Micrognathia, Cleft lip, Low anterior hairline, Growth delay, M... |
ORPHA:124 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Short stature, Posteriorly rotated ears, Highly arched eyebrow, Postnatal growth retardation, Dee... |
OMIM:613563 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Hyperpigmented streaks, Delayed eruption of primary teeth |
OMIM:300952 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Thin upper lip vermilion, Tented upper lip vermilion, Short stature, Posteriorly rotated ears, Hy... |
OMIM:309580 |
Congenital Disorder Of Glycosylation, Type Iim |
|
Mandibular prognathia, Thick eyebrow, Exaggerated cupid's bow, Fused teeth, High palate, Short ph... |
OMIM:300896 |
Cornelia De Lange Syndrome |
|
Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth, Widely spaced teeth,... |
ORPHA:199 |
Mucopolysaccharidosis, Type Vi |
|
Delayed eruption of teeth, Short stature, Carious teeth, Disproportionate short-trunk short statu... |
OMIM:253200 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Microretrognathia, Short stature, Micrognathia, Agenesis of mandibular central incisor, Pierre-Ro... |
OMIM:268305 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Short stature, Posteriorly rotated ears, Micro... |
ORPHA:96334 |
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome |
|
Delayed eruption of teeth, Short stature, Gingival overgrowth, Rhizomelic arm shortening, Hearing... |
ORPHA:508542 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Uplifted earlobe, Micrognathia, Synophrys, Low anterior hairline, Widely s... |
OMIM:619841 |
Vici Syndrome |
|
Everted upper lip vermilion, Median cleft lip, Hypopigmentation of hair, Cleft upper lip, Microgn... |
OMIM:242840 |
Brittle Cornea Syndrome |
|
Abnormality of the dentition, Sensorineural hearing impairment, Abnormality of hair pigmentation,... |
ORPHA:90354 |
Developmental And Epileptic Encephalopathy 100 |
|
Tented upper lip vermilion, Micrognathia, Protruding tongue, Synophrys, Gingival overgrowth, High... |
OMIM:619777 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Abnormality of the dentition, Carious teeth, Gingival overgrowth, Macroglo... |
ORPHA:93 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Intrauterine growth retardation, Enamel hypoplasia |
OMIM:243150 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Short stature, Posteriorly rotated ears, Carious teeth, Hypoplastic toenails, Downturned corners ... |
OMIM:619522 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... |
ORPHA:79434 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Downturned corners of mouth, Small earlobe, Absent eyebrow, Alopecia, Short stature... |
OMIM:264090 |
Cockayne Syndrome Type 3 |
|
Dry hair, Mild postnatal growth retardation, Carious teeth, Premature graying of hair, Adult onse... |
ORPHA:90324 |
Classic Phenylketonuria |
|
Growth delay, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:79254 |
Osteopetrosis With Renal Tubular Acidosis |
|
Short stature, Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Macrotia... |
ORPHA:2785 |
Griscelli Syndrome Type 2 |
|
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation |
ORPHA:79477 |
Endocrine-Cerebroosteodysplasia |
|
Natal tooth, Median cleft lip, Bilateral cleft lip, Micrognathia, Low-set ears, Thick upper lip v... |
OMIM:612651 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Premature loss of primary teeth, Abnormality of hair texture, Growth d... |
ORPHA:667 |
Down Syndrome |
|
Short stature, Protruding tongue, Brushfield spots, Macroglossia, Microtia, Conductive hearing im... |
OMIM:190685 |
Lead Poisoning |
|
Delayed eruption of teeth, Delayed puberty |
ORPHA:330015 |
Williams-Beuren Syndrome |
|
Medial flaring of the eyebrow, Short stature, Sensorineural hearing impairment, Thick lower lip v... |
OMIM:194050 |
C Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the ear cartilage, Short stature, Accessory oral... |
ORPHA:1308 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Abnormal dental enamel morphology, Ocular albinism, M... |
ORPHA:79430 |
Waardenburg Syndrome, Type 2E |
|
White eyelashes, White eyebrow, Aplasia of the semicircular canal, Sensorineural hearing impairme... |
OMIM:611584 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Hypopigmentation of hair |
ORPHA:70472 |
Warburg-Cinotti Syndrome |
|
Dental crowding, Posteriorly rotated ears, Gingival overgrowth, High palate, Atresia of the exter... |
OMIM:618175 |
Williams Syndrome |
|
Micrognathia, Hypoplastic toenails, Protruding ear, Microdontia, Chronic otitis media, Low-set, p... |
ORPHA:904 |
Stickler Syndrome |
|
Short stature, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, Cleft ... |
ORPHA:828 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Sparse scalp hair, Sparse eyelashes, Micrognathia, Sparse eyebrow, Disproportionate short stature... |
OMIM:210710 |
Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Abnormal dental morphology, Short stature, Abnormality of the dentition, Carious tee... |
ORPHA:158668 |
Hand-Foot-Genital Syndrome |
|
Microtia, Hypoplastic fifth toenail |
ORPHA:2438 |
Chediak-Higashi Syndrome |
|
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Gingivitis, Giant melanosomes in mel... |
OMIM:214500 |
Schinzel-Giedion Syndrome |
|
Delayed eruption of teeth, Abnormality of the stapes, Micrognathia, Generalized hypertrichosis, A... |
ORPHA:798 |
Prader-Willi Syndrome |
|
Thin upper lip vermilion, Hypopigmentation of hair, Short stature, Iris hypopigmentation, Carious... |
OMIM:176270 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Posteriorly rotated ears, Thickened helices, Asymmetry of the ears, Cleft upper lip, Sensorineura... |
OMIM:607872 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Exaggerated median tongue furrow, Short nail, Supernumerary nipple, Submuc... |
OMIM:312870 |
Nail-Patella Syndrome |
|
Abnormal iris pigmentation, High anterior hairline, Fingernail dysplasia, Enamel hypoplasia, Toen... |
ORPHA:2614 |
Townes-Brocks Syndrome 2 |
|
Overfolded helix, Cupped ear, Microtia |
OMIM:617466 |
Schimke Immuno-Osseous Dysplasia |
|
Short stature, Hypermelanotic macule, Abnormal primary molar morphology, Disproportionate short-t... |
ORPHA:1830 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Short stature, Sensorineural hearing impairment, Growth delay, Tooth a... |
ORPHA:289176 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... |
ORPHA:79431 |
Yunis-Varon Syndrome |
|
Micrognathia, Protruding ear, Short philtrum, High palate, Absent fingernail, Small earlobe, Spar... |
OMIM:216340 |
Restrictive Dermopathy |
|
Natal tooth, Short nail, Micrognathia, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat g... |
ORPHA:1662 |
Restrictive Dermopathy 1 |
|
Natal tooth, Sparse eyelashes, Short nail, Micrognathia, Absent eyelashes, Sparse eyebrow, Submuc... |
OMIM:275210 |
Knobloch Syndrome 2 |
|
Enamel hypoplasia, Micrognathia |
OMIM:618458 |
Pallister-Hall Syndrome |
|
Microretrognathia, Natal tooth, Low-set, posteriorly rotated ears, Auricular tag, Short stature, ... |
ORPHA:672 |
Shwachman-Diamond Syndrome |
|
Delayed eruption of teeth, Sinusitis, Short stature, Carious teeth, Oral ulcer, Growth delay, Abn... |
ORPHA:811 |
Albinism, Oculocutaneous, Type Ia |
|
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... |
OMIM:203100 |
Pseudohypoparathyroidism Type 1C |
|
Delayed eruption of teeth, Enamel hypoplasia, Short stature |
ORPHA:79444 |
1P36 Deletion Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal eyebrow morphology, Short stature, Narrow mouth, Sens... |
ORPHA:1606 |
Duane Retraction Syndrome |
|
Central heterochromia, Patchy hypopigmentation of hair, Micrognathia, External ear malformation, ... |
ORPHA:233 |
Peters Plus Syndrome |
|
Low-set, posteriorly rotated ears, Thin upper lip vermilion, Exaggerated cupid's bow, Short statu... |
ORPHA:709 |
Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Natal tooth, Posteriorly rotated ears, Hamartoma of tongue, Micrognathia, Clef... |
OMIM:615948 |
Craniofacial Microsomia 1 |
|
Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Conductive hearing impairment, Sensorin... |
OMIM:164210 |
Aneurysm-Osteoarthritis Syndrome |
|
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula |
ORPHA:284984 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Synophrys, Downturned corner... |
OMIM:619503 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Erosion of oral mucosa, Oral mucosal blisters, Carious teeth, Growth delay, Nail dystrophy, Narro... |
ORPHA:79408 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Erosion of oral mucosa, Alopecia, Abnormal oral mucosa morphology, Paronychia, Growth delay, Nail... |
ORPHA:79404 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Short stature, Uplifted earlobe, Supernumerary nipple, Submucous cleft... |
OMIM:235730 |
Pseudohypoparathyroidism Type 1A |
|
Delayed eruption of teeth, Enamel hypoplasia, Short stature, Sensorineural hearing impairment |
ORPHA:79443 |
Thalidomide Embryopathy |
|
Abnormality of the outer ear, Anotia, Short stature, Hearing impairment |
ORPHA:3312 |
Waardenburg Syndrome, Type 4C |
|
White eyelashes, White eyebrow, Sensorineural hearing impairment, Blue irides, Hypopigmented skin... |
OMIM:613266 |
Wiedemann-Rautenstrauch Syndrome |
|
Synophrys, Abnormality of the ear, Downturned corners of mouth, Short philtrum, Sparse hair, Prem... |
ORPHA:3455 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Short stature, Carious teeth, Oral ulcer, Gingivitis, Growth delay, Delayed eruption of permanent... |
ORPHA:79259 |
Camurati-Engelmann Disease |
|
Delayed eruption of teeth, Carious teeth, Craniofacial osteosclerosis, Delayed puberty, Hearing i... |
ORPHA:1328 |
Charge Syndrome |
|
Mixed hearing impairment, Micrognathia, Postnatal growth retardation, Cleft upper lip, Aplasia of... |
OMIM:214800 |
Floating-Harbor Syndrome |
|
Short stature, Persistence of primary teeth, Hypoplasia of the maxilla, Carious teeth, Conductive... |
ORPHA:2044 |
Degcags Syndrome |
|
Micrognathia, Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature grayi... |
OMIM:619488 |
Meckel Syndrome, Type 1 |
|
Thin upper lip vermilion, Natal tooth, Cleft upper lip, Micrognathia, Cleft palate, Wide mouth, L... |
OMIM:249000 |
Prader-Willi Syndrome |
|
Hypopigmentation of hair, Short stature, Abnormality of the dentition, Downturned corners of mout... |
ORPHA:739 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth |
OMIM:180920 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Thin upper lip vermilion, Hypopigmentation of hair, Short stature, Downturned corners of mouth, D... |
ORPHA:177901 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Downturned corners of mouth, Thin upper lip vermilion, Hypopigmentation of hair, Hypopigmentation... |
ORPHA:398079 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Hypopigmentation of hair, Short stature, Downturned corners of mouth, Delayed puberty, Hypopigmen... |
ORPHA:98754 |
Menkes Disease |
|
Hypopigmentation of hair, Micrognathia, Woolly hair, Sparse hair, Intrauterine growth retardation... |
ORPHA:565 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Hypopigmentation of hair, Short stature, Downturned corners of mouth, Delayed puberty, Hypopigmen... |
ORPHA:98793 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Thin upper lip vermilion, Hypopigmentation of hair, Short stature, Downturned corners of mouth, H... |
ORPHA:398069 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Hypopigmentation of hair, Short stature, Downturned corners of mouth, Delayed puberty, Hypopigmen... |
ORPHA:177904 |
Pallister-Killian Syndrome |
|
Tented upper lip vermilion, Micrognathia, Hyperpigmented streaks, Hypopigmented streaks, Sparse h... |
OMIM:601803 |
Loeys-Dietz Syndrome 3 |
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Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula |
OMIM:613795 |
Chédiak-Higashi Syndrome |
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Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... |
ORPHA:167 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
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Red hair |
OMIM:609734 |
Townes-Brocks Syndrome |
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Short stature, External ear malformation, Wide mouth, Abnormal tragus morphology, Microtia, Delay... |
ORPHA:857 |
Sponastrime Dysplasia |
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Mandibular prognathia, Obtuse angle of mandible, Rhizomelia, Hypoplasia of the nasal bone, Hypopl... |
ORPHA:93357 |
Syndromic Diarrhea |
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Hypopigmentation of hair, Brittle hair, Short stature, Generalized hypopigmentation, Uncombable h... |
ORPHA:84064 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
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Microtia |
ORPHA:276280 |
Lowe Oculocerebrorenal Syndrome |
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Postnatal growth retardation, Enamel hypoplasia, Short stature |
OMIM:309000 |
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Sensorineural hearing impairment, Hypopigm... |
ORPHA:163746 |
Mowat-Wilson Syndrome |
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Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Widely spaced teeth,... |
ORPHA:2152 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Sparse scalp hair, Hearing impairment, Micrognathia |
OMIM:606170 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Mandibular prognathia, Delayed eruption of teeth, Broad eyebrow, Dental crowding, Abnormal dental... |
ORPHA:261537 |
Townes-Brocks Syndrome 1 |
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Overfolding of the superior helices, Sensorineural hearing impairment, Microtia, Stahl ear, Satyr... |
OMIM:107480 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Mandibular prognathia, Dental crowding, Uplifted earlobe, Cleft hard palate, Short philtrum, Bifi... |
ORPHA:261552 |
Microphthalmia, Syndromic 1 |
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Dental crowding, Abnormal pinna morphology, Cleft upper lip, High, narrow palate, Overfolded heli... |
OMIM:309800 |
Sotos Syndrome |
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Hyperpigmentation of the skin, Abnormality of the dentition, No permanent dentition, Sparse anter... |
ORPHA:821 |
Cystinosis, Nephropathic |
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Hypopigmentation of hair, Short stature, Retinal pigment epithelial mottling, Growth delay, Pigme... |
OMIM:219800 |