Syngnathia |
|
Cleft palate |
OMIM:119550 |
Torus Palatinus And Torus Mandibularis |
|
Torus palatinus, Abnormality of the mouth |
OMIM:189700 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
Deafness, Autosomal Recessive 109 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal |
OMIM:618013 |
Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia |
OMIM:606713 |
Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
Bifid Uvula |
|
Cleft lip, Bifid uvula, Submucous cleft soft palate |
ORPHA:99771 |
Van Der Woude Syndrome 1 |
|
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula |
OMIM:119300 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Cleft palate, Bifid uvula |
OMIM:303400 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Short stature, Abnormality of the o... |
ORPHA:363417 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Morphological abnormality of the semicircular canal,... |
OMIM:619274 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
Lacrimoauriculodentodigital Syndrome |
|
Carious teeth, Absent lacrimal punctum, Abnormal dental enamel morphology, Hypoplasia of the radi... |
ORPHA:2363 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft upper lip, Cleft palate, Stomach cancer |
OMIM:137215 |
Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Cleft palate, Tooth agenesis |
ORPHA:1074 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Involuntary movements, Chorea, Abnormal head movements |
OMIM:616939 |
Kid Syndrome |
|
Sparse eyelashes, Corneal erosion, Palmoplantar keratoderma, Acne inversa, Limbal stem cell defic... |
ORPHA:477 |
Lacrimoauriculodentodigital Syndrome |
|
Carious teeth, Corneal perforation, Radial deviation of the 3rd finger, Absent lacrimal punctum, ... |
OMIM:149730 |
Waardenburg Syndrome, Type 2E |
|
Morphological abnormality of the vestibule of the inner ear, Hypoplasia of the iris, Dilated vest... |
OMIM:611584 |
Orofacial Cleft 13 |
|
Cleft soft palate, Oligodontia |
OMIM:613857 |
Cataract 11, Multiple Types |
|
Chorea, Hypertonia, Microphthalmia |
OMIM:610623 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Tarsal synostosis, Highly arched eyebrow, Optic atrophy, Radioulnar synostosis, Talon cusp, Short... |
OMIM:605282 |
Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Talipes equinovarus, Short stature, Finger syndactyly, Synostosis of joints, Hyp... |
ORPHA:1106 |
Otopalatodigital Syndrome Type 2 |
|
Malar flattening, Hearing impairment, Hydrocephalus, Increased bone mineral density, Camptodactyl... |
ORPHA:90652 |
Cockayne Syndrome Type 2 |
|
Gait disturbance, Developmental cataract, Hypoplasia of the primary teeth, Intrauterine growth re... |
ORPHA:90322 |
Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short stature, Short 1st metacarpal, Brachyd... |
OMIM:113100 |
Cofs Syndrome |
|
Optic atrophy, Micrognathia, Abnormality of retinal pigmentation, Intrauterine growth retardation... |
ORPHA:1466 |
Nail-Patella Syndrome |
|
Talipes equinovarus, Short stature, Lester's sign, Quadriceps aplasia, Elongated radius, Pes plan... |
OMIM:161200 |
Oculoauricular Syndrome |
|
Morning glory anomaly, Retinal coloboma, Rod-cone dystrophy, Nasolacrimal duct obstruction, Iris ... |
OMIM:612109 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Conductive hearing impairment, Cone-shaped epiphysis, Short stature, Mitral re... |
OMIM:157800 |
Deafness, X-Linked 6 |
|
Cochlear malformation, Hearing impairment |
OMIM:300914 |
Sheldon-Hall Syndrome |
|
Tarsal synostosis, Round ear, Micrognathia, Adducted thumb, Short stature, Ulnar deviation of fin... |
ORPHA:1147 |
Warburg Micro Syndrome 1 |
|
Microcornea, Optic atrophy, Micrognathia, Developmental cataract, Hypertrichosis, Microphthalmia,... |
OMIM:600118 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Microphthalmia, Severe postnatal growth retardation, Hamartoma of the orb... |
ORPHA:2399 |
Pierpont Syndrome |
|
Short stature, Large fleshy ears, Telecanthus, Malar flattening, Prominent subcalcaneal fat pad, ... |
OMIM:602342 |
Crouzon Disease |
|
Conductive hearing impairment, Optic atrophy, Chiari malformation, Ptosis, Hearing impairment, Ir... |
ORPHA:207 |
Xeroderma Pigmentosum, Complementation Group D |
|
Keratoconjunctivitis sicca, Telangiectasia, Microphthalmia, Ectropion, Choreoathetosis, Keratitis... |
OMIM:278730 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Micrognathia, Developmental cataract, Intrauterine growth retardation, Growth delay, Rocker botto... |
OMIM:610756 |
2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Microphthalmia, Growth delay, Small for gestational age, Abnormality iris morphol... |
ORPHA:1617 |
Ectrodactyly-Cleft Palate Syndrome |
|
Cleft palate |
OMIM:129830 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Micrognathia, Hirsutism, Microphthalmia, Rocker bottom foot, Second metatarsal posteriorly placed... |
OMIM:214150 |
Verloove Vanhorick-Brubakk Syndrome |
|
Tarsal synostosis, Micrognathia, Abnormality of femur morphology, Limb undergrowth, Abnormality o... |
ORPHA:3429 |
Spondylo-Ocular Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the lens, Short stature, Osteoporosis, Pes planus, Abnormal... |
ORPHA:85194 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Tarsal synostosis, Conductive hearing impairment, Abnormality of the ulna, Short stature, Oligoda... |
ORPHA:1307 |
Kniest Dysplasia |
|
Rhegmatogenous retinal detachment, Bilateral ptosis, Hearing impairment, Short long bone, Aplasia... |
ORPHA:485 |
Noonan Syndrome |
|
Micrognathia, Short stature, Ptosis, Hypogonadotropic hypogonadism, Coarse hair, Low-set, posteri... |
ORPHA:648 |
Muenke Syndrome |
|
Tarsal synostosis, Cone-shaped epiphysis, Ptosis, Malar flattening, Sensorineural hearing impairm... |
ORPHA:53271 |
Frontometaphyseal Dysplasia 1 |
|
Long phalanx of finger, Hirsutism, Partial fusion of carpals, Delayed eruption of teeth, Camptoda... |
OMIM:305620 |
Pierpont Syndrome |
|
Telecanthus, Malar flattening, Pes planus, Hearing impairment, Short toe, Prominent fingertip pad... |
ORPHA:487825 |
Gómez-López-Hernández Syndrome |
|
Alopecia of scalp, Short stature, Impaired pain sensation, Telecanthus, Ataxia, Cerebellar vermis... |
ORPHA:1532 |
Humero-Radial Synostosis |
|
Tarsal synostosis, Meningocele, Elbow ankylosis, Chorioretinal coloboma, Aplasia/Hypoplasia of th... |
ORPHA:3265 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Ataxia, Microphthalmia |
OMIM:615771 |
Trichothiodystrophy |
|
Carious teeth, Eczema, Diffuse cerebellar atrophy, Brittle hair, Increased bone mineral density, ... |
ORPHA:33364 |
Proximal Symphalangism |
|
Tarsal synostosis, Proximal symphalangism, Elbow ankylosis, Metacarpophalangeal synostosis, Synos... |
ORPHA:3250 |
Brachydactyly, Type B2 |
|
Tarsal synostosis, Cutaneous finger syndactyly, Proximal symphalangism of hands, Absent phalangea... |
OMIM:611377 |
Warburg Micro Syndrome 3 |
|
Microcornea, Optic atrophy, Micrognathia, Developmental cataract, Hypertrichosis, Shallow anterio... |
OMIM:614222 |
Cockayne Syndrome Type 1 |
|
Hearing impairment, Uveitis, Postnatal growth retardation, Conjunctivitis, Contractures involving... |
ORPHA:90321 |
Mucolipidosis Type Iii |
|
Short stature, Hypoplastic inferior ilia, Acne, Reduced bone mineral density, Craniofacial hypero... |
ORPHA:577 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Dens in dente, Short middle phalanx of fin... |
OMIM:263540 |
Cleft Palate, Isolated |
|
Increased overbite, Cleft palate, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Intrauterine growth retardation, Short stature, Low-set, posteriorly rotated ears, Abnormality of... |
ORPHA:2370 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Li... |
ORPHA:2334 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Lagopthalmos, Sclerosis of finger phalanx, Bilateral ptosis, Reduced bone mineral density, Delaye... |
ORPHA:404454 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Micrognathia, Intrauterine growth retardation, Paresthesia, Short stature, Microphthalmia, Dysmet... |
ORPHA:48431 |
Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... |
OMIM:186500 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Micrognathia, Microphthalmia, Intrauterine growth retardation, Rocker bottom foot, Talipes equino... |
OMIM:616570 |
Charge Syndrome |
|
Arrhinencephaly, Absent tibia, Retinal coloboma, Malar flattening, Iris coloboma, Lop ear, Radial... |
OMIM:214800 |
Mental Retardation, Autosomal Recessive 14 |
|
Narrow palate |
OMIM:614020 |
Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition |
OMIM:216300 |
Distal Monosomy 10Q |
|
Short stature, Short metatarsal, Pes valgus, Pes planus, Postnatal growth retardation, Cerebellar... |
ORPHA:96148 |
Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Micrognathia, Microphthalmia, Ankyloblepharon, Overfolded helix, Small hand,... |
OMIM:619339 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Flattened radial epiphyses, Upper limb undergrowth, Bilateral external ear deformity, Talipes equ... |
ORPHA:93307 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Progressive spasticity, Microphthalmia, Growth delay, Short stature, Upslanted palpebral fissure,... |
ORPHA:2528 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula |
OMIM:258320 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Tarsal synostosis, Severe short-limb dwarfism, Abnormality of pelvic girdle bone morphology, Abno... |
ORPHA:968 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Mesomelia-Synostoses Syndrome |
|
Abnormal foot morphology, Abnormality of the knee, Short stature, Telecanthus, Malar flattening, ... |
ORPHA:2496 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Tarsal synostosis, Vertebral fusion, Short stature, Ptosis, Hip contracture, Craniosynostosis, Lo... |
OMIM:178110 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Tarsal synostosis, Abnormality of the ulna, Short stature, Abnormality of epiphysis morphology, S... |
ORPHA:2639 |
Microspherophakia-Metaphyseal Dysplasia |
|
Irregular epiphyses, Lens coloboma, Metaphyseal dysplasia, Growth delay, Lens subluxation, Short ... |
OMIM:157151 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Tarsal synostosis, Telecanthus, Bilateral conductive hearing impairment, Abnormality of the wrist... |
ORPHA:2010 |
Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... |
ORPHA:2756 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Ataxia, Microphthalmia, Spasticity |
OMIM:278780 |
Spondylocarpotarsal Synostosis Syndrome |
|
Failure of eruption of permanent teeth, Talipes equinovarus, Capitate-hamate fusion, C2-C3 sublux... |
OMIM:272460 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Narrow palpebral fissure, Pes planus, Genu recurvatum, Hearing impairment, Hip dislocation, Catar... |
OMIM:608763 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic atrophy, Micrognathia, Optic disc pallor, Macular atrophy, Intrauterine growth retardation,... |
OMIM:616171 |
Cleft Palate-Lateral Synechia Syndrome |
|
Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia |
ORPHA:2016 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Proximal symphalangism of hands, Short stature, Short finger, Humeroradial syn... |
OMIM:186570 |
Otodental Syndrome |
|
Carious teeth, Pulp calcification, Lens coloboma, Microphthalmia, Retinal coloboma, Abnormal dent... |
ORPHA:2791 |
Anencephaly 2 |
|
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Zika Virus Disease |
|
Wrist swelling, Transient hearing impairment, Infectious encephalitis, Macular atrophy, Ankle swe... |
ORPHA:448237 |
Galactosialidosis |
|
Corneal opacity, Cherry red spot of the macula, Hearing impairment |
ORPHA:351 |
Osebold-Remondini Syndrome |
|
Tarsal synostosis, Short stature, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the ... |
OMIM:112910 |
Orofaciodigital Syndrome Type 1 |
|
Chronic otitis media, Brittle hair, Abnormal dental enamel morphology, Telecanthus, Finger syndac... |
ORPHA:2750 |
22Q11.2 Deletion Syndrome |
|
Carious teeth, Arrhinencephaly, Talipes equinovarus, Short stature, Chronic otitis media, Hypopla... |
ORPHA:567 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Abnormal foot morphology, Eczema, Short stature, Cerebral palsy, Bilateral ptosis, Joint contract... |
ORPHA:352490 |
Frontonasal Dysplasia 1 |
|
Conductive hearing impairment, Microphthalmia, Ptosis, Hypoplastic frontal sinuses, Epicanthus, J... |
OMIM:136760 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Secondary amenorrhea, Elevated circulating follicle stimulating hormone level, Telecanthus, Femal... |
ORPHA:572333 |
Erythrokeratodermia Variabilis |
|
Patchy palmoplantar hyperkeratosis, Abnormal hair morphology, Short stature, Tapered finger, Weig... |
ORPHA:317 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Micrognathia, Ectropion, Synophrys, Recurrent otitis media, Downslanted palpebral fissures, Long ... |
OMIM:602562 |
Dysplasia Epiphysealis Hemimelica |
|
Tarsal synostosis, Flattened femoral head, Irregular epiphyses, Genu varum, Abnormality of femur ... |
ORPHA:1822 |
Temtamy Syndrome |
|
Micrognathia, Genu varum, Chorioretinal coloboma, Microphthalmia, Telecanthus, Pes planus, Iris c... |
ORPHA:1777 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Chronic otitis media, Bowing of the long bones, Hypoplastic inferior ilia,... |
ORPHA:61 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Micrognathia, 2-3 toe syndactyly, Lens coloboma, Microphthalmia, Mandibular prognathia, Cerebral ... |
OMIM:618914 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Adrenal hyperplasia, Abnormal foot morphology, Oligospermia, Hirsutism, Elevated circulating foll... |
ORPHA:95699 |
Mesomelic Dysplasia, Nievergelt Type |
|
Tarsal synostosis, Mesomelic short stature, Abnormality of the ulna, Genu varum, Aplasia/Hypoplas... |
ORPHA:2633 |
Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormal foot morphology, Dystrophic fingernails, Dystrophic toenail, Abnormal... |
ORPHA:1657 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Carious teeth, Microcornea, Micrognathia, Microphthalmia, Short stature, Tapered finger, Upslante... |
OMIM:616734 |
Limbal Stem Cell Deficiency |
|
Conjunctival hyperemia, Corneal perforation, Corneal scarring, Opacification of the corneal epith... |
ORPHA:171673 |
Symphalangism, Proximal, 1A |
|
Tarsal synostosis, Conductive hearing impairment, Proximal symphalangism of hands, Short 5th meta... |
OMIM:185800 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea |
OMIM:613703 |
Muckle-Wells Syndrome |
|
Conjunctival hyperemia, Polyarticular arthritis, Short stature, Hearing impairment, Maculopapular... |
OMIM:191900 |
Apert Syndrome |
|
Ovarian neoplasm, Toe syndactyly, Cervical C5/C6 vertebrae fusion, Conductive hearing impairment,... |
ORPHA:87 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Short stature,... |
OMIM:147891 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Keratoconjunctivitis sicca, Polyarticular arthritis, Growth delay, Failure to thrive, Punctate ke... |
OMIM:617388 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Microcornea, Optic atrophy, Retinal fold, Microphthalmia, Mandibular prognathia, Upslanted palpeb... |
OMIM:152950 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Hypertrophic cardiomyopathy, Optic atrophy, Micrognathia, Cerebellar atrophy, Positional foot def... |
ORPHA:496790 |
Mend Syndrome |
|
Dandy-Walker malformation, 2-3 toe syndactyly, Polydactyly, Short stature, Long fingers, Hyperact... |
OMIM:300960 |
Warburg Micro Syndrome 4 |
|
Microcornea, Optic atrophy, Developmental cataract, Babinski sign, Hirsutism, Severe postnatal gr... |
OMIM:615663 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Ocular anterior segment dysgenesis, Microphthalmia, Short stature, Peters anomaly, Iris coloboma,... |
OMIM:610023 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Chorioretinal coloboma, Microphthalmia, Posterior embryotoxon, Ptosis, Iris colobo... |
ORPHA:1473 |
Mesomelic Dysplasia, Kantaputra Type |
|
Tarsal synostosis, Abnormality of the humerus, Short stature, Talipes, Ulnar deviation of finger,... |
ORPHA:1836 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Arachnodactyly, Retinal detac... |
ORPHA:171844 |
Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
20P13 Microdeletion Syndrome |
|
Highly arched eyebrow, Narrow palpebral fissure, Bilateral external ear deformity, Failure to thr... |
ORPHA:313781 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Highly arched eyebrow, Micrognathia, Short stature, Ptosis, Postaxial polydactyly, Upslanted palp... |
OMIM:613792 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Stereotypy |
OMIM:617787 |
Norrie Disease |
|
Malar flattening, Stereotypy, Aplasia/Hypoplasia of the cerebellum, Remnants of the hyaloid vascu... |
ORPHA:649 |
Asperger Syndrome, X-Linked, Susceptibility To, 2 |
|
Stereotypy |
OMIM:300497 |
Asperger Syndrome, X-Linked, Susceptibility To, 1 |
|
Stereotypy |
OMIM:300494 |
Asperger Syndrome, Susceptibility To, 1 |
|
Stereotypy |
OMIM:608638 |
Asperger Syndrome, Susceptibility To, 2 |
|
Stereotypy |
OMIM:608631 |
Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
Moebius Syndrome |
|
Clumsiness, Talipes equinovarus, Lower limb undergrowth, Pes planus, Syndactyly, Camptodactyly, A... |
OMIM:157900 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Progressive cerebellar ataxia, Ataxia, Corneal opacity, Upper motor neuron dys... |
ORPHA:3177 |
Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance |
|
Eczema, Short stature, Epicanthus, Hearing impairment, Postnatal growth retardation, Decreased bo... |
OMIM:612947 |
Joubert Syndrome 14 |
|
Dandy-Walker malformation, Highly arched eyebrow, Hypertension, Microphthalmia, Growth delay, Mor... |
OMIM:614424 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia, Macrotia, Choreoathetosis |
OMIM:221950 |
Ophthalmomandibulomelic Dysplasia |
|
Abnormality of bone mineral density, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of the... |
ORPHA:2741 |
Muckle-Wells Syndrome |
|
Optic atrophy, Episcleritis, Short stature, Arthritis, Broad foot, Pes cavus, Uveitis, Vasculitis... |
ORPHA:575 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Micrognathia, Ptosis, Epicanthus, Downslanted palpebral fissures, Low-set ears, Short palpebral f... |
OMIM:614230 |
Rubinstein-Taybi Syndrome |
|
Carious teeth, Broad hallux phalanx, Short stature, Telecanthus, Nasolacrimal duct obstruction, F... |
ORPHA:783 |
Microphthalmia With Limb Anomalies |
|
Abnormal hair morphology, Talipes equinovarus, Short palpebral fissure, Postnatal growth retardat... |
OMIM:206920 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Chronic sinusitis, Recurrent pneumonia, Recurrent otitis media |
OMIM:612692 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Keratoconjunctivitis sicca, Short stature, Ptosis, Mandibular prognathia, Tapered finger, Metaphy... |
OMIM:616007 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Primary Dystonia, Dyt13 Type |
|
Postural tremor, Involuntary movements, Jerky head movements, Torticollis, Stereotypy, Action tremor |
ORPHA:98807 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Upslanted palpebral fissure, Large fleshy ears, Overfolded helix, Myoclonus, Arachnodactyly, Ster... |
OMIM:619092 |
Pseudohypoparathyroidism Type 1B |
|
Increased bone density with cystic changes, Prolonged QT interval, Paresthesia, Short stature, My... |
ORPHA:94089 |
Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Short... |
ORPHA:2788 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Failure to thrive, Failure to thrive secondary to recurrent infections, Arthritis, Oti... |
OMIM:601457 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Keratoconjunctivitis sicca, Optic atrophy, Microcornea, Sparse eyelashes, Microphthalmia, Growth ... |
OMIM:234050 |
Short Syndrome |
|
Posterior embryotoxon, Hypoplasia of the iris, Weight loss, Alopecia, Malar flattening, Abnormal ... |
ORPHA:3163 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Warburg-Cinotti Syndrome |
|
Ankle flexion contracture, Narrow palpebral fissure, Conductive hearing impairment, Decreased cor... |
OMIM:618175 |
Pseudohypoparathyroidism Type 1A |
|
Short 5th metacarpal, Paresthesia, Short stature, Short metatarsal, Delayed eruption of teeth, Re... |
ORPHA:79443 |
Winchester Syndrome |
|
Osteolysis involving bones of the feet, Osteolysis involving bones of the upper limbs, Corneal op... |
OMIM:277950 |
Benign Paroxysmal Torticollis Of Infancy |
|
Torticollis, Ataxia, Abnormal head movements, Vertigo |
ORPHA:71518 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Sinusitis, Pneumonia, Bronchiectasis, Failure to thrive, Recurrent otitis media, Crohn's disease,... |
OMIM:601495 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Intrauterine growth retardation, Microphthalmia, Short statu... |
ORPHA:290 |
Gm1 Gangliosidosis |
|
Retinopathy of prematurity, Hirsutism, Short stature, Camptodactyly of finger, Low-set ears, Gait... |
ORPHA:354 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Micrognathia, Failure to thrive in infancy, Intrauterine growth retardation, Adducted thumb, Rock... |
OMIM:610758 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Carious teeth, Periorbital dermoid cyst, Tapered finger, Lacrimal duct stenosis, Low-set ears, Do... |
OMIM:615560 |
Jackson-Weiss Syndrome |
|
Broad metatarsal, 2-3 toe syndactyly, Short metatarsal, Craniosynostosis, Malar flattening, Calca... |
OMIM:123150 |
Rere-Related Neurodevelopmental Syndrome |
|
Broad eyebrow, Micrognathia, Optic atrophy, Chorioretinal coloboma, Intrauterine growth retardati... |
ORPHA:494344 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
48,Xxyy Syndrome |
|
Carious teeth, Chronic otitis media, Broad jaw, Pes planus, Abnormal dental enamel morphology, De... |
ORPHA:10 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hirsutism, Talipes equinovarus, Short stature, Telecanthus, Hearing impairment, Cerebellar hypopl... |
OMIM:301056 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Cat-Eye Syndrome |
|
Intrauterine growth retardation, Chorioretinal coloboma, Short stature, Microphthalmia, Downslant... |
ORPHA:195 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Macrotia, Abnormality of the ear |
OMIM:600776 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cryptorchidism, Cataract, Aplasia/Hypoplasia of the lens, Genu valgum |
ORPHA:1381 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Tarsal synostosis, Talipes equinovarus, Absent phalangeal crease, Antecubital pterygium, Fused ce... |
OMIM:618469 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Persistent pupillary membrane, Sparse eyelashes, Short stature, Abnormal dental enamel morphology... |
OMIM:257850 |
Acromesomelic Dysplasia 3 |
|
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Hypergonadotropic hypogona... |
OMIM:609441 |
Sandestig-Stefanova Syndrome |
|
Highly arched eyebrow, Developmental cataract, Laterally extended eyebrow, Intrauterine growth re... |
OMIM:618804 |
X-Linked Agammaglobulinemia |
|
Sinusitis, Short stature, Recurrent cutaneous abscess formation, Chronic otitis media, Failure to... |
ORPHA:47 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Epiphyseal stippling, Malar flattening, Hearing impairment, Postnatal growth re... |
OMIM:302960 |
Sialidosis Type 2 |
|
Short stature, Osteoporosis, Hearing impairment, Tremor, Ataxia, Corneal opacity, Flexion contrac... |
ORPHA:87876 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Corneal neovascularization, Punctate... |
ORPHA:70476 |
Adams-Oliver Syndrome 2 |
|
Optic atrophy, Micrognathia, Narrow palpebral fissure, Developmental cataract, Microphthalmia, Lo... |
OMIM:614219 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Conjunctival hyperemia, Upper eyelid coloboma, Absent lacrimal punctum, Ectopic lacrimal punctum,... |
OMIM:167730 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:179400 |
Weill-Marchesani Syndrome 2 |
|
Short stature, Short metatarsal, Delayed skeletal maturation, Hypoplasia of the maxilla, Aortic v... |
OMIM:608328 |
Autosomal Agammaglobulinemia |
|
Sinusitis, Bronchiectasis, Chronic otitis media, Failure to thrive, Hepatitis, Epicanthus, Arthri... |
ORPHA:33110 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Carious teeth, Sparse eyelashes, Folliculitis, Nail dystrophy, Alopecia, Scarring alopecia of sca... |
OMIM:612843 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Cubitus valgus, Delayed eruption of teeth, Hearing impairment, Flexion contra... |
ORPHA:2712 |
Pelvis-Shoulder Dysplasia |
|
Bilateral external ear deformity, Talipes equinovarus, Retinal coloboma, Short stature, Prominent... |
ORPHA:2839 |
Oculomaxillofacial Dysostosis |
|
Micrognathia, Abnormality of the humerus, Adducted thumb, Short stature, Upslanted palpebral fiss... |
ORPHA:1794 |
Martsolf Syndrome 1 |
|
Slender ulna, Talipes equinovarus, Short stature, Short toe, Hypoplasia of the maxilla, Short pha... |
OMIM:212720 |
Cousin Syndrome |
|
2-3 toe syndactyly, Talipes equinovarus, Prominent protruding coccyx, Joint contracture of the ha... |
OMIM:260660 |
Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Micrognathia, Conductive hearing impairment, Short stature, Postaxial polydactyly... |
OMIM:277170 |
Brachydactyly, Mononen Type |
|
Aplasia of the distal phalanx of the 2nd finger, Absent distal phalanges, Proximal fibular overgr... |
OMIM:301940 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Eczema, Hirsutism, Gait imbalance, Chronic otitis media, Prominent protruding coccyx, Nasolacrima... |
OMIM:300966 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conductive hearing impairment, 2-3 toe syndactyly, Sparse eyelashes, Nail dystrophy, Ankyloblepha... |
OMIM:106260 |
Arboleda-Tham Syndrome |
|
Genu varum, Gait imbalance, Thin eyebrow, Anteverted ears, Pes planus, Stereotypy, Low-set ears, ... |
OMIM:616268 |
Fontaine Progeroid Syndrome |
|
Hypoplastic nipples, Short stature, Short palpebral fissure, Syndactyly, Hydrocephalus, Delayed s... |
OMIM:612289 |
Baraitser-Winter Syndrome 1 |
|
Highly arched eyebrow, Chorioretinal coloboma, Microphthalmia, Short stature, Ptosis, Failure to ... |
OMIM:243310 |
Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... |
ORPHA:2378 |
Carpenter Syndrome 1 |
|
Genu varum, Short stature, Malar flattening, Telecanthus, Joint contracture of the hand, Deviatio... |
OMIM:201000 |
Trisomy 13 |
|
Malar flattening, Iris coloboma, Low-set ears, Abnormality of pelvic girdle bone morphology, Abno... |
ORPHA:3378 |
Dermatitis, Atopic |
|
Atopic dermatitis, Eczema, Allergic rhinitis, Recurrent skin infections, Cataract, Keratoconus, C... |
OMIM:603165 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired proprioception, Babinski sign, Dystonia, Jerky head movements, Ptosis, Spastic gait, Spa... |
ORPHA:251282 |
Crouzon Syndrome |
|
Conjunctivitis, Conductive hearing impairment, Optic atrophy, Lambdoidal craniosynostosis, Mandib... |
OMIM:123500 |
Cohen Syndrome |
|
Short stature, Cubitus valgus, Finger syndactyly, Iris coloboma, Hypoplasia of the maxilla, Abnor... |
ORPHA:193 |
Sponastrime Dysplasia |
|
Congenital aphakia, Metaphyseal irregularity, Obtuse angle of mandible, Pes planus, Shallow aceta... |
ORPHA:93357 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Ptosis, Talipes, Alopecia, Congenital hip dislocation, Finger syndacty... |
ORPHA:1647 |
Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... |
ORPHA:888 |
Syndactyly Type 5 |
|
2-3 toe syndactyly, Metacarpal synostosis, Ulnar deviation of finger, 3-4 finger syndactyly, Shor... |
ORPHA:93406 |
Bardet-Biedl Syndrome 5 |
|
Polydactyly, Macular dystrophy, Rod-cone dystrophy, Hypogonadism, Syndactyly, Obesity, Brachydactyly |
OMIM:615983 |
Multiple Synostoses Syndrome 3 |
|
Metacarpal synostosis, Metatarsal synostosis, Cubitus valgus, Broad hallux, Broad thumb, Cutaneou... |
OMIM:612961 |
Nievergelt Syndrome |
|
Tarsal synostosis, Mesomelic short stature, Talipes equinovarus, Genu valgum, Mesomelia, Radial h... |
OMIM:163400 |
Cri-Du-Chat Syndrome |
|
Short metatarsal, Pes planus, Hearing impairment, Stereotypy, Anterior open-bite malocclusion, Sy... |
OMIM:123450 |
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter |
|
Optic atrophy, Dystonia, Talipes equinovarus, Tapered finger, Upslanted palpebral fissure, Abnorm... |
OMIM:617807 |
Congenital Sialidosis Type 2 |
|
Optic atrophy, Telangiectasia, Developmental cataract, Hypoplasia of the fovea, Polydactyly, Cher... |
ORPHA:93400 |
Fatco Syndrome |
|
Tarsal synostosis, Short stature, Finger syndactyly, Absent hand, Split hand, Abnormality of fibu... |
ORPHA:2492 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Microphthalmia, Large for gestational age |
ORPHA:2432 |
Arthrogryposis, Distal, Type 1A |
|
Single transverse palmar crease, Hip contracture, Talipes equinovarus, Short stature, Joint contr... |
OMIM:108120 |
De Sanctis-Cacchione Syndrome |
|
Telangiectasia, Cerebellar atrophy, Ectropion, Choreoathetosis, Keratitis, Sensorineural hearing ... |
OMIM:278800 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Dystonia, Micrognathia, Chronic otitis media, Prominent protruding coccyx, Obesity, Epicanthus, D... |
ORPHA:480907 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency |
OMIM:617732 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Intrauterine growth retardation, Short stature, Bowing of the long bones, Low-set, posteriorly ro... |
ORPHA:2725 |
Gorham-Stout Disease |
|
Abnormality of ethmoid bone, Abnormality of the internal auditory canal, Abnormality of femur mor... |
ORPHA:73 |
Orofaciodigital Syndrome X |
|
Fibular aplasia, Hand oligodactyly, Telecanthus, Coalescence of tarsal bones, Retrognathia, Preax... |
OMIM:165590 |
Igg4-Related Ophthalmic Disease |
|
Sinusitis, Cholangitis, Dacryocystitis, Nasolacrimal duct obstruction, Palpebral edema, Abnormal ... |
ORPHA:449563 |
Pendred Syndrome |
|
Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Vertigo, Sensorineural hearing impairmen... |
ORPHA:705 |
Fraxe Intellectual Disability |
|
Clumsiness, Intrauterine growth retardation, Short stature, Prominent ear helix, Epicanthus, Ster... |
ORPHA:100973 |
Hypocomplementemic Urticarial Vasculitis |
|
Episcleritis, Cerebral palsy, Hemiplegia/hemiparesis, Joint dislocation, Arthritis, Sensorineural... |
ORPHA:36412 |
Usher Syndrome Type 1 |
|
Abnormal dental enamel morphology, Sensorineural hearing impairment, Ataxia, Aplasia/Hypoplasia o... |
ORPHA:231169 |
Chromosome 3Q29 Deletion Syndrome |
|
Small for gestational age, Tapered finger, Failure to thrive, Long fingers, Macrotia, Posteriorly... |
OMIM:609425 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Tarsal synostosis, Micrognathia, Eczema, Absent eyebrow, Malar flattening, Abnormal dental enamel... |
ORPHA:85199 |
Synpolydactyly 2 |
|
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... |
OMIM:608180 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ocular albinism, Short stature, Iris hypopigmentation, Abnormal pyramidal sign, Spastic tetrapleg... |
ORPHA:2719 |
Bardet-Biedl Syndrome 11 |
|
Hypogonadism, Obesity, Polydactyly, Retinopathy |
OMIM:615988 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Gait disturbance, Narrow palpebral fissure, Microphthalmia, Short stature, Retinal coloboma, Epic... |
OMIM:618571 |
Multiple Synostoses Syndrome 2 |
|
Tarsal synostosis, Proximal symphalangism, Vertebral fusion, Talipes equinovarus, Finger symphala... |
OMIM:610017 |
Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Micrognathia, Microphthalmia, Wide proximal femoral metaphysis, Abnormal femoral neck/head morpho... |
ORPHA:163649 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Small for gestational age, Syndactyly, Upper limb phocomelia, Abnormal hip bone morp... |
ORPHA:294975 |
Poikiloderma With Neutropenia |
|
Plantar hyperkeratosis, Short stature, Recurrent otitis media, Malar flattening, Recurrent pneumo... |
OMIM:604173 |
Jacobsen Syndrome |
|
Telecanthus, Nasolacrimal duct obstruction, Iris coloboma, Macular hypoplasia, Hydrocephalus, Low... |
OMIM:147791 |
Christianson Syndrome |
|
Dystonia, Cachexia, Cerebellar atrophy, Adducted thumb, Mandibular prognathia, Macrotia, Arthrogr... |
ORPHA:85278 |
Acropectorovertebral Dysplasia |
|
Tarsal synostosis, Triphalangeal thumb, Synostosis of carpal bones, Finger syndactyly, Spina bifi... |
ORPHA:957 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
C1-C2 subluxation, Hirsutism, Hip contracture, Short stature, Pes planus, Delayed eruption of tee... |
OMIM:259600 |
Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Short stature, Ectopia lentis, Microspherophakia, Pulmonic stenosis, Jo... |
OMIM:614819 |
8Q21.11 Microdeletion Syndrome |
|
Micrognathia, Eczema, Microphthalmia, Ptosis, Sclerocornea, Absent palmar crease, Epicanthus, Dow... |
ORPHA:284160 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Abnormal foot morphology, Short stature, Hearing impairment, Syndactyly, Incoordination, Camptoda... |
ORPHA:369891 |
Chromosome 16Q22 Deletion Syndrome |
|
Highly arched eyebrow, Micrognathia, Growth delay, Small for gestational age, Failure to thrive, ... |
OMIM:614541 |
Cleft Velum |
|
Cleft soft palate, Velopharyngeal insufficiency |
ORPHA:99772 |
Pseudohypoparathyroidism Type 1C |
|
Short 5th metacarpal, Paresthesia, Short stature, Short metatarsal, Delayed eruption of teeth, In... |
ORPHA:79444 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal ... |
OMIM:615990 |
Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
Incontinentia Pigmenti |
|
Abnormal hair morphology, Short stature, Dystrophic toenail, Abnormal dental enamel morphology, D... |
ORPHA:464 |
Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula |
OMIM:300850 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Conjunctival hyperemia, Epicanthus, Posteriorly rotated ears, Spasticity, Low-set ears, Joint laxity |
OMIM:619548 |
3P25.3 Microdeletion Syndrome |
|
Congenital pseudoarthrosis of the clavicle, Proximal placement of thumb, Stereotypy, Broad hallux... |
ORPHA:435638 |
Bardet-Biedl Syndrome 12 |
|
Hypogonadism, Obesity, Polydactyly, Rod-cone dystrophy |
OMIM:615989 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Tarsal synostosis, Posterior fusion of lumbosacral vertebrae, Joint stiffness, Ptosis |
ORPHA:2064 |
Smith-Magenis Syndrome |
|
Broad palm, Morphological abnormality of the middle ear, Short stature, Impaired pain sensation, ... |
OMIM:182290 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Sparse eyelashes, Talipes equinovarus, Pes planus, Stereotypy, Delayed skeletal maturation, Low-s... |
OMIM:619293 |
De Barsy Syndrome |
|
Abnormal fundus fluorescein angiography, Talipes equinovarus, Short stature, Delayed eruption of ... |
ORPHA:2962 |
Zellweger Syndrome |
|
Optic atrophy, Micrognathia, Short stature, Epiphyseal stippling, Posterior embryotoxon, Upslante... |
ORPHA:912 |
Multiple Synostoses Syndrome 4 |
|
Tarsal synostosis, Otosclerosis, Pes planus, Overlapping toe, Broad foot, Brachydactyly |
OMIM:617898 |
Cockayne Syndrome |
|
Carious teeth, Limb hypertonia, Progressive gait ataxia, Postnatal growth retardation, Retinal ar... |
ORPHA:191 |
Aniridia 1 |
|
Hypoplasia of the fovea, Corneal erosion, Ptosis, Ectopia lentis, Bilateral ptosis, Optic nerve h... |
OMIM:106210 |
Episodic Ataxia Type 4 |
|
Frequent falls, Abnormal head movements, Vertigo, Ataxia, Incoordination |
ORPHA:79136 |
Talonavicular Coalition |
|
Coalescence of tarsal bones, Proximal/middle symphalangism of 5th finger, Abnormality of the ankl... |
OMIM:186750 |
Joubert Syndrome 10 |
|
Hirsutism, Growth delay, Postaxial polydactyly, Epicanthus, Downslanted palpebral fissures, Rod-c... |
OMIM:300804 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia, Short stature, Ptosis, Anteverted ears, Abnormality of the pinna, Coloboma, Micro... |
OMIM:300915 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid uvula |
OMIM:256200 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Nail dystrophy, Palmoplantar keratoderma, Limbal stem cell deficiency, Finger joint hypermobility... |
OMIM:615225 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
|
Failure to thrive, Stereotypy, Cataract, Flexion contracture, Spasticity, Difficulty walking |
OMIM:617393 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Unilateral cleft lip, Cleft palate, Bifid uvula |
ORPHA:2736 |
Waardenburg Syndrome, Type 4C |
|
Blue irides, White eyelashes, White forelock, Sensorineural hearing impairment, Heterochromia iri... |
OMIM:613266 |
Megalocornea-Intellectual Disability Syndrome |
|
Micrognathia, Genu varum, Short stature, Tapered finger, Iridodonesis, Hypoplasia of the iris, Ep... |
ORPHA:2479 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Immunodeficiency, Common Variable, 3 |
|
Recurrent otitis media, Recurrent sinusitis, Conjunctivitis |
OMIM:613493 |
Microphthalmia With Brain And Digit Anomalies |
|
Microcornea, Chorioretinal coloboma, Microphthalmia, Sclerocornea, Retinal dystrophy, Anophthalmi... |
ORPHA:139471 |
Familial Cold Urticaria |
|
Sensorineural hearing impairment, Dysesthesia, Arthritis, Conjunctivitis |
ORPHA:47045 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Paresthesia, Short stature, Chronic otitis media, Hearing impairment, Hydrocephalus, H... |
ORPHA:579 |
Auriculocondylar Syndrome 3 |
|
Bifid uvula, Glossoptosis |
OMIM:615706 |
Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... |
OMIM:617319 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Ataxia, Hearing impairment |
OMIM:271250 |
Laurence-Moon Syndrome |
|
Short stature, Abnormal antitragus morphology, Epicanthus, Low-set, posteriorly rotated ears, Fin... |
ORPHA:2377 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Stereotypy |
OMIM:606053 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Micrognathia, Lower limb asymmetry, Low anterior hairline, Ptosis, Postaxial polydactyly, Upslant... |
OMIM:615761 |
Stickler Syndrome Type 2 |
|
Sensorineural hearing impairment, Abnormal vitreous humor morphology, Retinal detachment, Corneal... |
ORPHA:90654 |
Autism, Susceptibility To, X-Linked 3 |
|
Stereotypy |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Stereotypy |
OMIM:300425 |
Autism |
|
Stereotypy |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Stereotypy |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Stereotypy |
OMIM:608636 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Short stature, Delayed eruption of teeth, Postnatal growth retardation, Delayed skeletal maturati... |
ORPHA:73272 |
Transketolase Deficiency |
|
Secondary amenorrhea, Seborrheic dermatitis, Proportionate short stature, Hearing impairment, Ste... |
ORPHA:488618 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly, Retinal dystrophy, Rod-cone dystrophy, Hypogonadism, Obesity |
OMIM:615987 |
Neuroocular Syndrome |
|
Lagopthalmos, Short stature, Stellate iris, Brittle hair, Peters anomaly, Genu recurvatum, Nasola... |
OMIM:619539 |
Intellectual Developmental Disorder, Autosomal Recessive 58 |
|
Stereotypy, Spastic diplegia, Choreoathetosis |
OMIM:617270 |
Weill-Marchesani Syndrome 1 |
|
Broad metatarsal, Broad palm, Shallow anterior chamber, Shallow orbits, Short stature, Ectopia le... |
OMIM:277600 |
Clouston Syndrome |
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Fine hair, Abnormal foot morphology, Abnormality of the hand, Sparse eyelashes, Short stature, Ab... |
OMIM:129500 |
Rubinstein-Taybi Syndrome 1 |
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Hirsutism, Radial deviation of thumb terminal phalanx, Short stature, Pes planus, Nasolacrimal du... |
OMIM:180849 |
Mullegama-Klein-Martinez Syndrome |
|
Micrognathia, Polydactyly, Low anterior hairline, Short stature, Failure to thrive, Curly eyelash... |
OMIM:301022 |
Refsum Disease |
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Abnormal foot morphology, Abnormality of retinal pigmentation, Microphthalmia, Hammertoe, Ptosis,... |
ORPHA:773 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
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Osteopathia striata, Abnormality of the metaphysis, Coarse metaphyseal trabecularization, White f... |
ORPHA:2779 |
Synostoses, Tarsal, Carpal, And Digital |
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Tarsal synostosis, Metacarpophalangeal synostosis, Aplasia/Hypoplasia of the middle phalanges of ... |
OMIM:186400 |
Craniofacial-Deafness-Hand Syndrome |
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Ulnar deviation of finger, Downslanted palpebral fissures, Lacrimal duct atresia, Abnormality of ... |
ORPHA:1529 |
Acrootoocular Syndrome |
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Short stature, Prominent calcaneus, Delayed eruption of teeth, Delayed skeletal maturation, Short... |
ORPHA:2980 |
Charge Syndrome |
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Short stature, Abnormality of bone mineral density, Overfolded helix, Delayed eruption of teeth, ... |
ORPHA:138 |
Bardet-Biedl Syndrome 7 |
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2-3 toe syndactyly, Polydactyly, Postaxial polydactyly, Malar flattening, Rod-cone dystrophy, Hyp... |
OMIM:615984 |
Nance-Horan Syndrome |
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Microcornea, Microphthalmia, Mandibular prognathia, Supernumerary tooth, Retinal detachment, Shor... |
ORPHA:627 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Micrognathia, Microphthalmia, Abnormality of epiphysis morphology, Rhizomelia, Bowing of the long... |
ORPHA:93267 |
Cutis Laxa, Autosomal Dominant 3 |
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Developmental cataract, Intrauterine growth retardation, Adducted thumb, Talipes equinovarus, Aor... |
OMIM:616603 |
Immunodeficiency, Common Variable, 1 |
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Pneumonia, Bronchiectasis, Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Conj... |
OMIM:607594 |
Mucoepithelial Dysplasia, Hereditary |
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Pneumonia, Nail dystrophy, Alopecia, Coarse hair, Chronic mucocutaneous candidiasis, Melena, Recu... |
OMIM:158310 |
Mucolipidosis Iv |
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Optic atrophy, Babinski sign, Cerebellar atrophy, Retinal degeneration, Dystonia, Spastic tetrapl... |
OMIM:252650 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
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Abnormality of the ear, Prominent fingertip pads, Oromotor apraxia, Downslanted palpebral fissure... |
ORPHA:391372 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
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Arthritis, Conjunctivitis |
OMIM:617772 |
Microspherophakia With Hernia |
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Retinal detachment, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Walker-Warburg Syndrome |
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Retinal dysplasia, Iris coloboma, Hydrocephalus, Cerebellar hypoplasia, Low-set ears, Protruding ... |
ORPHA:899 |
Trichothiodystrophy 1, Photosensitive |
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Keratoconjunctivitis sicca, Fine hair, Tiger tail banding, Microcornea, Erythroderma, Telangiecta... |
OMIM:601675 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Eczema, Abnormal hair morphology, Thin eyebrow, Corneal erosion, Abnormal dental enamel morpholog... |
ORPHA:2273 |
Isolated Congenital Alacrima |
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Corneal erosion, Ptosis, Lacrimal punctal atresia, Keratitis, Distichiasis, Lacrimal gland hypopl... |
ORPHA:91416 |
Immunodeficiency, Common Variable, 2 |
|
Bronchiectasis, Recurrent otitis media, Recurrent pneumonia, Recurrent sinusitis, Conjunctivitis |
OMIM:240500 |
Intellectual Developmental Disorder, X-Linked 72 |
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Stereotypy |
OMIM:300271 |
Atopic Keratoconjunctivitis |
|
Keratoconjunctivitis sicca, Abnormal eyelid morphology, Keratitis, Chemosis, Corneal opacity, Los... |
ORPHA:163934 |
Baraitser-Winter Syndrome 2 |
|
Highly arched eyebrow, Microphthalmia, Short stature, Ptosis, Telecanthus, Abnormality of the pin... |
OMIM:614583 |
Gomez-Lopez-Hernandez Syndrome |
|
Short stature, Agenesis of cerebellar vermis, Alopecia, Malar flattening, Downslanted palpebral f... |
OMIM:601853 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Babinski sign, Dystonia, Cerebellar atrophy, Shyness, Short stature, Generalized joint laxity, Sp... |
ORPHA:280763 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Lens subluxation, Metaphyseal irregularity, Brachydactyly, Coloboma, Short long bone, Short phala... |
ORPHA:85167 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Cleft palate, Bifid uvula |
ORPHA:2521 |
Cockayne Syndrome B |
|
Carious teeth, Abnormal auditory evoked potentials, Abnormal hair morphology, Postnatal growth re... |
OMIM:133540 |
Mend Syndrome |
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2-3 toe syndactyly, Abnormal auditory evoked potentials, Limb hypertonia, Short stature, Telecant... |
ORPHA:401973 |
Sialidosis Type 1 |
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Gait disturbance, Short stature, Cherry red spot of the macula, Myoclonus, Sensorineural hearing ... |
ORPHA:812 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Jerky head movements, Limb myoclonus, Rigidity, Frequent falls, Limb aprax... |
ORPHA:240103 |
Pontocerebellar Hypoplasia, Type 11 |
|
Short stature, Talipes equinovarus, Poor coordination, Macrotia, Poor eye contact, Stereotypy, At... |
OMIM:617695 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Hallux valgus, Abnormal foot morphology, Bilateral ptosis, Pes planus, Periodontitis, Micrognathi... |
ORPHA:536532 |
Lowry-Maclean Syndrome |
|
Hydrocephalus, Megalocornea, Low-set ears, Hypoplasia of the maxilla, Micrognathia, Intrauterine ... |
ORPHA:2409 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Hallux valgus, Metaphyseal dysplasia, Talipes equinovarus, Short stature, Dysplasia of the femora... |
ORPHA:536471 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Erythroderma, Short stature, Failure to thrive, Alopecia, Sensorineural hearing impairment, Kerat... |
OMIM:242150 |
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation |
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Cleft palate, Short philtrum, Thick upper lip vermilion, Thin upper lip vermilion, Abnormality of... |
OMIM:226440 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Talipes equinovarus, Short stature, Epiphyseal stippling, Abnormal hair pattern... |
ORPHA:35173 |
Radio-Tartaglia Syndrome |
|
Hirsutism, Gait imbalance, Pes planus, Long eyebrows, Hearing impairment, Stereotypy, Poor eye co... |
OMIM:619312 |
Sanjad-Sakati Syndrome |
|
Severe intrauterine growth retardation, Micrognathia, Congenital hypoparathyroidism, Hypoparathyr... |
ORPHA:2323 |
Lamb-Shaffer Syndrome |
|
Optic atrophy, Micrognathia, Mild postnatal growth retardation, Epicanthus, Fused cervical verteb... |
ORPHA:530983 |
Waardenburg Syndrome, Type 3 |
|
Blue irides, Cutaneous finger syndactyly, Mandibular prognathia, Telecanthus, Joint contracture o... |
OMIM:148820 |
Smith-Magenis Syndrome |
|
Short stature, Chronic otitis media, Pes planus, Stereotypy, Hand polydactyly, Toe syndactyly, Mi... |
ORPHA:819 |
Xeroderma Pigmentosum, Complementation Group A |
|
Telangiectasia, Ectropion, Choreoathetosis, Keratitis, Sensorineural hearing impairment, Ataxia, ... |
OMIM:278700 |
Trichinellosis |
|
Conjunctival hyperemia, Abnormality of the optic nerve, Babinski sign, Lethargy, Retinal hemorrha... |
ORPHA:863 |
Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Cleft palate, Bifid uvula, Lobulated tongue, Median cleft lip |
OMIM:174300 |
Rothmund-Thomson Syndrome, Type 2 |
|
Underfolded helix, Sparse eyelashes, Talipes equinovarus, Short stature, Overfolded helix, Delaye... |
OMIM:268400 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Lacrimal gland aplasia, Absent lacrimal punctum, Lacrimal gland hypoplasia |
OMIM:180920 |
Tarsal-Carpal Coalition Syndrome |
|
Tarsal synostosis, Abnormality of the ankles, Short stature |
ORPHA:1412 |
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Hydrocephalus, Hemiplegia, Cerebral hemorrhage, Retinal arteriolar tortuosity, Microphthalmia, Pe... |
OMIM:175780 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Agenesis of central incisor, Intrauterine growth retardation, Thin eyebrow, Microphthalmia, Aplas... |
ORPHA:364577 |
Suleiman-El-Hattab Syndrome |
|
Highly arched eyebrow, Protruding ear, Hirsutism, Palpebral thickening, Polydactyly, Optic disc p... |
OMIM:618950 |
Bardet-Biedl Syndrome 6 |
|
Polydactyly, Retinal dystrophy, Rod-cone dystrophy, Syndactyly, Obesity |
OMIM:605231 |
Bardet-Biedl Syndrome 9 |
|
Retinal degeneration, Polydactyly, Postaxial polydactyly, Obesity, Bone spicule pigmentation of t... |
OMIM:615986 |
Scheie Syndrome |
|
Retinal degeneration, Mandibular prognathia, Aortic regurgitation, Genu valgum, Pes cavus, Cornea... |
OMIM:607016 |
Mucopolysaccharidosis Type 3 |
|
Hirsutism, Chronic otitis media, Rod-cone dystrophy, Hearing impairment, Reduced bone mineral den... |
ORPHA:581 |
Ring Chromosome 10 Syndrome |
|
Large earlobe, Micrognathia, Cachexia, Intrauterine growth retardation, Microphthalmia, Tapered f... |
ORPHA:1438 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Micrognathia, Intrauterine growth retardation, Microphthalmia, Ocular albinism, Aplasia/Hypoplasi... |
ORPHA:1352 |
Tularemia |
|
Conjunctival hyperemia, Pneumonia, Tachycardia, Otitis media, Inflammatory abnormality of the eye... |
ORPHA:3392 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Folliculitis, Dystrophic fingernails, Ectropion, Palmoplantar keratoderma, Scar... |
OMIM:308800 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
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Eczema, Obesity, Dacryocystitis, Sensorineural hearing impairment, Pseudohypoparathyroidism, Retr... |
ORPHA:464288 |
Hypochondroplasia |
|
Genu varum, Malar flattening, Childhood onset short-limb short stature, Limited elbow extension, ... |
OMIM:146000 |
Mental Retardation, Autosomal Recessive 41 |
|
Mandibular prognathia, Downslanted palpebral fissures, Stereotypy, Retrognathia, Clinodactyly of ... |
OMIM:615637 |
Microphthalmia, Lenz Type |
|
Microcornea, Chorioretinal coloboma, Microphthalmia, Short stature, Ankyloblepharon, Low-set, pos... |
ORPHA:568 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Inflammation of the large intestine, Erythema nodosum, Growth delay, Pneumonia, Bronchiectasis, F... |
OMIM:614700 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Chronic active hepatitis, Hypoparathyroidism, Chronic oral candidiasis, Nail dystrophy, Alopecia,... |
OMIM:240300 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Tremor, Ataxia, Stereotypy |
OMIM:617862 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Cerebellar cyst, Microphthalmia, Cerebellar dysplasia, Hypoplasia of t... |
OMIM:613153 |
Oculodentodigital Dysplasia |
|
Carious teeth, Cubitus valgus, Short palpebral fissure, 3-4 toe syndactyly, Paraparesis, Sparse h... |
OMIM:164200 |
Mental Retardation, Autosomal Dominant 7 |
|
Hallux valgus, Micrognathia, Gait disturbance, Intrauterine growth retardation, Failure to thrive... |
OMIM:614104 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Toe syndactyly, Protruding ear, Intrauterine growth retardation, Ptosis, Lacrimal duct stenosis, ... |
ORPHA:73246 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Microphthalmia, Growth delay, Failure to thrive, Tetraplegia, Hyperactivity, Hyper... |
OMIM:274270 |
Moebius Syndrome |
|
Micrognathia, Abnormality of the ulna, Talipes equinovarus, Ptosis, Aplasia/Hypoplasia of the thu... |
ORPHA:570 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Bilateral ptosis, Cubitus valgus, Spastic ataxia, Stereotypy, Postnatal growth retar... |
ORPHA:300570 |
Mmep Syndrome |
|
Microphthalmia, Triphalangeal thumb, Mandibular prognathia, Cryptorchidism, Split foot |
ORPHA:3434 |
Coffin-Siris Syndrome 6 |
|
Conductive hearing impairment, Narrow palpebral fissure, Micrognathia, Short stature, Epicanthus,... |
OMIM:617808 |
Distal Monosomy 6P |
|
Micrognathia, Talipes equinovarus, Posterior embryotoxon, Abnormality of epiphysis morphology, Hy... |
ORPHA:96125 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Stereotypical hand wringing, Macrotia, Hyperkinetic movements |
ORPHA:397933 |
Menkes Disease |
|
Tarsal synostosis, Micrognathia, Intracranial hemorrhage, Chondrocalcinosis, Intrauterine growth ... |
ORPHA:565 |
Orofaciodigital Syndrome Xvii |
|
Polydactyly, Short stature, Prominent metopic ridge, Hearing impairment, Partial duplication of t... |
OMIM:617926 |
Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Abnormality of the knee, Talipes equinovarus, Dacryocystitis, Prominent calcaneus, Slender finger... |
ORPHA:251028 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Short stature, Polydactyly, Brachydactyly |
OMIM:617405 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Profound hearing impairment, Optic atrophy, Micrognathia, Dandy-Walker malformation, Triphalangea... |
ORPHA:3078 |
Trisomy 18 |
|
Short stature, Iris coloboma, Deviation of finger, Camptodactyly of finger, Delayed skeletal matu... |
ORPHA:3380 |
Muenke Syndrome |
|
Short middle phalanx of finger, Low anterior hairline, Ptosis, Capitate-hamate fusion, Thimble-sh... |
OMIM:602849 |
Bartsocas-Papas Syndrome |
|
Toe syndactyly, Micrognathia, Popliteal pterygium, Eyelid coloboma, Talipes, Ankyloblepharon, Alo... |
ORPHA:1234 |
Microphthalmia, Syndromic 8 |
|
Microcornea, Microphthalmia, Mandibular prognathia, Short palpebral fissure, Cryptorchidism, Blep... |
OMIM:601349 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Short stature, Hypogonadotropic hypogonadism, Preaxial polydactyly, Hypogonadism,... |
ORPHA:141333 |
Subaortic Stenosis-Short Stature Syndrome |
|
Micrognathia, Microphthalmia, Short stature, Acne, Synostosis of carpal bones, Epicanthus, Low-se... |
ORPHA:3191 |
Galloway-Mowat Syndrome 1 |
|
Talipes equinovarus, Short stature, Joint contracture of the hand, Slender finger, Camptodactyly,... |
OMIM:251300 |
Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Growth delay, Short finger, Abnormality of long bone morphology, Short toe, Abnormality of pelvic... |
OMIM:259270 |
Acro-Renal-Ocular Syndrome |
|
Broad hallux phalanx, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of the radius, Sh... |
ORPHA:959 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Bardet-Biedl Syndrome 1 |
|
Hirsutism, Gait imbalance, Rod-cone dystrophy, Hearing impairment, Foot polydactyly, Syndactyly, ... |
OMIM:209900 |
Monosomy 18P |
|
Carious teeth, Hypertension, Micrognathia, Microphthalmia, Short stature, Ptosis, Holoprosencepha... |
ORPHA:1598 |
Marfan Syndrome |
|
Malar flattening, Pes planus, Genu recurvatum, Limited elbow extension, Protrusio acetabuli, Camp... |
OMIM:154700 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Thin eyebrow, Short stature, Abnormality of nail color, Large hands, Abnormal dental enamel morph... |
ORPHA:3220 |
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Impaired proprioception, Hearing impairment, Cerebellar hypoplasia, Gait disturbance, Infertility... |
ORPHA:412057 |
Mucopolysaccharidosis Type 4 |
|
Carious teeth, Gait disturbance, Short stature, Abnormality of epiphysis morphology, Bowing of th... |
ORPHA:582 |
Sjogren-Larsson Syndrome |
|
Short stature, Opacification of the corneal epithelium, Macular degeneration, Retinal pigment epi... |
OMIM:270200 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid uvula |
ORPHA:2669 |
Autoimmune Hypoparathyroidism |
|
Autoimmune hypoparathyroidism, Prolonged QT interval, Paresthesia, Ventricular arrhythmia, Myoclo... |
ORPHA:36913 |
Cornelia De Lange Syndrome 5 |
|
Hirsutism, Short stature, Telecanthus, Proximal placement of thumb, Hearing impairment, Postnatal... |
OMIM:300882 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Ptosis, Dysmetria, Progressive gait ataxia, Fasciculations, Macular degenerat... |
ORPHA:284289 |
Ritscher-Schinzel Syndrome 3 |
|
Poorly ossified vertebrae, Highly arched eyebrow, Micrognathia, Chorioretinal coloboma, Microphth... |
OMIM:619135 |
Cleft Lip/Palate |
|
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Stuve-Wiedemann Syndrome 1 |
|
Broad ischia, Metaphyseal rarefaction, Short stature, Thickened cortex of long bones, Malar flatt... |
OMIM:601559 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Macrotia, Anteverted ears, Stereotypy |
OMIM:615541 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Ramos-Arroyo Syndrome |
|
Carious teeth, Narrow palpebral fissure, Decreased corneal sensation, Upslanted palpebral fissure... |
ORPHA:1051 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Absent tibia, Talipes equinovarus, Torticollis, Short metatarsal, Overfolded helix, Proximal plac... |
OMIM:609945 |
Dubowitz Syndrome |
|
Carious teeth, Eczema, Telecanthus, Pes planus, Delayed eruption of teeth, Short palpebral fissur... |
OMIM:223370 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Keratoconjunctivitis sicca, Fine hair, Microcornea, Microphthalmia, Short stature, Sclerocornea, ... |
ORPHA:1806 |
Branchio-Oculo-Facial Syndrome |
|
Conductive hearing impairment, Intrauterine growth retardation, Short stature, Ptosis, Upslanted ... |
ORPHA:1297 |
Mental Retardation With Language Impairment And With Or Without Autistic Features |
|
Failure to thrive in infancy, Malar flattening, Downslanted palpebral fissures, Speech apraxia, S... |
OMIM:613670 |
Cockayne Syndrome Type 3 |
|
Carious teeth, Subdural hemorrhage, Increased blood pressure, Premature graying of hair, Conducti... |
ORPHA:90324 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Enteroviral hepatitis, Infectious encephalitis, Pyoderma, Pneumonia, Prostatitis, Shor... |
OMIM:307200 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Micrognathia, Intrauterine growth retardation, Abnormality of the calcaneus, Short stature, Hypop... |
ORPHA:163966 |
Pseudoarthrogryposis |
|
Ankylosis, Limited elbow movement, Proximal tibial and fibular fusion |
OMIM:177300 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Large earlobe, Microphthalmia, Polydactyly, Epicanthus, Downslanted palpebral fissures, Syndactyl... |
OMIM:602501 |
Codas Syndrome |
|
Crumpled ear, Short stature, Ptosis, Abnormality of epiphysis morphology, Overfolded helix, Epica... |
ORPHA:1458 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Protruding ear, Polydactyly, Short stature, Delayed closure of the anterior fontanelle, Lower lim... |
ORPHA:231140 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
Micro Syndrome |
|
Microcornea, Optic atrophy, Micrognathia, Abnormality of retinal pigmentation, Intrauterine growt... |
ORPHA:2510 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Enlarged cochlear aqueduct, Congenital stationary night blindness,... |
ORPHA:90646 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Gait disturbance, Anteverted ears, Postaxial polydactyly, Poor coordination, Abnormality of pain ... |
ORPHA:544254 |
2Q31.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Abnormality of the ulna, Abnormal hair morphology, Short stature, Short pal... |
ORPHA:251014 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Telecanthus, Malar flattening, Peters anomaly, Short palpebral fissure, Hydrocephalus,... |
OMIM:612582 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Intrauterine growth retardation, Growth delay, Ptosis, Long eyelashes, Small hand... |
ORPHA:238750 |
Alpha-Mannosidosis, Infantile Form |
|
Clumsiness, Bilateral coxa valga, Abnormality of the sphenoid sinus, Highly arched eyebrow, Optic... |
ORPHA:309282 |
Cone-Rod Dystrophy 16 |
|
Macular atrophy, Optic disc pallor, Postaxial polydactyly, Bone spicule pigmentation of the retin... |
OMIM:614500 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Carious teeth, Short stature, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Telecant... |
OMIM:617102 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Pes planus, Hearing impairment, Postnatal growth retardation, Cerebellar malformation, Delayed cr... |
ORPHA:357058 |
Warburg Micro Syndrome 2 |
|
Microcornea, Optic atrophy, Developmental cataract, Microphthalmia, Low anterior hairline, Asymme... |
OMIM:614225 |
Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lacrimal duct aplasia, Split han... |
DECIPHER:46 |
Multiple Sulfatase Deficiency |
|
Broad hallux phalanx, Abnormality of retinal pigmentation, Optic atrophy, Short stature, Coarse h... |
ORPHA:585 |
Marden-Walker Syndrome |
|
Dandy-Walker malformation, Micrognathia, Intrauterine growth retardation, Microphthalmia, Talipes... |
OMIM:248700 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hallux valgus, Short stature, Parotitis, Elevated circulating thyroid-stimulating hormone concent... |
OMIM:256040 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula |
OMIM:601492 |
Limb-Mammary Syndrome |
|
Psoriasiform dermatitis, Toe syndactyly, Absent lacrimal punctum, Hypoplastic nipples, Protruding... |
ORPHA:69085 |
Acitretin/Etretinate Embryopathy |
|
Micrognathia, Third degree atrioventricular block, Aplasia/Hypoplasia of the maxilla, Abnormality... |
ORPHA:40366 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea |
OMIM:251750 |
Familial Exudative Vitreoretinopathy |
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Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Microphthalm... |
ORPHA:891 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
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Conductive hearing impairment, Intrauterine growth retardation, Polydactyly, Epicanthus, Hypoplas... |
OMIM:616910 |
Mosaic Trisomy 1 |
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Deviation of the 5th toe, Broad toe, Complete duplication of thumb phalanx, Camptodactyly of fing... |
ORPHA:1692 |
Hallermann-Streiff Syndrome |
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Sparse eyelashes, Malar flattening, Iris coloboma, Sparse and thin eyebrow, Low-set ears, Sparse ... |
OMIM:234100 |
Mietens Syndrome |
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Microcornea, Metatarsus adductus, Elbow ankylosis, Talipes, Sclerocornea, Avascular necrosis of t... |
ORPHA:2557 |
Au-Kline Syndrome |
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Ptosis, Postaxial polydactyly, Sparse lateral eyebrow, Craniosynostosis, Downslanted palpebral fi... |
OMIM:616580 |
Adducted Thumbs Syndrome |
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Cleft palate, High, narrow palate, Velopharyngeal insufficiency, High palate |
OMIM:201550 |
Biotinidase Deficiency |
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Lethargy, Optic atrophy, Seborrheic dermatitis, Diffuse cerebellar atrophy, Alopecia, Sensorineur... |
OMIM:253260 |
Bilateral Striopallidodentate Calcinosis |
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Corneal opacity, Intrauterine growth retardation |
ORPHA:1980 |
Mucopolysaccharidosis, Type Vii |
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Metatarsus adductus, Hirsutism, Talipes equinovarus, Short stature, Recurrent otitis media, Coars... |
OMIM:253220 |
Triphalangeal Thumb, Nonopposable |
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Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
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Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Microphthalmia, Short statu... |
OMIM:251270 |
Congenital Primary Aphakia |
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Microphthalmia, Retinal dysplasia, Sclerocornea, Congenital aphakia, Aplasia/Hypoplasia affecting... |
ORPHA:83461 |
Smith-Magenis syndrome |
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Stereotypy |
DECIPHER:8 |
Ulnar Hemimelia |
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Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
Spastic Paraplegia 81, Autosomal Recessive |
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Cleft palate, Bifid uvula |
OMIM:618768 |
Focal Dermal Hypoplasia |
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Abnormal dental enamel morphology, Finger syndactyly, Hearing impairment, Iris coloboma, Camptoda... |
ORPHA:2092 |
Chromosome 2P16.1-P15 Deletion Syndrome |
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Short stature, Telecanthus, Joint contracture of the hand, Short palpebral fissure, Camptodactyly... |
OMIM:612513 |
Bresek Syndrome |
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Protruding ear, Intrauterine growth retardation, Growth delay, Microphthalmia, Optic nerve hypopl... |
ORPHA:85284 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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2-3 toe syndactyly, Finger syndactyly, Low-set ears, Microphthalmia, Epicanthus, Downslanted palp... |
ORPHA:464738 |
Orofaciodigital Syndrome Type 5 |
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High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... |
ORPHA:2919 |
Hurler-Scheie Syndrome |
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Short stature, Rhinitis, Cardiomyopathy, Sensorineural hearing impairment, Corneal opacity, Gener... |
ORPHA:93476 |
Multiple Sulfatase Deficiency |
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Cerebellar atrophy, Retinal degeneration, Short stature, Hearing impairment, Ataxia, Corneal opac... |
OMIM:272200 |
Glycine Encephalopathy With Normal Serum Glycine |
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Optic atrophy, Clonus, Hip contracture, Talipes equinovarus, Ptosis, Hand clenching, Long eyelash... |
OMIM:617301 |
Ogden Syndrome |
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Fine hair, Torticollis, Abnormal head movements, Macrotia, Downslanted palpebral fissures, Low-se... |
ORPHA:276432 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
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Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
17Q23.1Q23.2 Microdeletion Syndrome |
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Short stature, Chronic otitis media, Malar flattening, Pes planus, Hearing impairment, Coxa magna... |
ORPHA:261279 |
Joubert Syndrome 37 |
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Microphthalmia, Short stature, Postaxial polydactyly, Ptosis, Obesity, Posteriorly rotated ears, ... |
OMIM:619185 |
Isolated Osteopoikilosis |
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Abnormal pelvis bone ossification, Abnormality of femur morphology, Sclerosis of foot bone, Scler... |
ORPHA:166119 |
Hypertrichosis Cubiti |
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Abnormality of the elbow, Ptosis, Rhizomelia, Downslanted palpebral fissures, Abnormal eyelid mor... |
ORPHA:2220 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
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Laterally extended eyebrow, Hirsutism, Short stature, Hooded eyelid, Proximal placement of thumb,... |
OMIM:610759 |
Foxg1 Syndrome |
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Dystonia, Severe postnatal growth retardation, Short stature, Choreoathetosis, Optic disc hypopla... |
ORPHA:561854 |
Usher Syndrome Type 3 |
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Sensorineural hearing impairment, Ataxia, Iris hypopigmentation, Cataract, Vestibular hypofunctio... |
ORPHA:231183 |
Mosaic Trisomy 8 |
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Micrognathia, Protruding ear, Patellar aplasia, Short stature, Narrow pelvis bone, Abnormality of... |
ORPHA:96061 |
Hartsfield Syndrome |
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Intrauterine growth retardation, Microphthalmia, Lobar holoprosencephaly, Ptosis, Aplasia/Hypopla... |
ORPHA:2117 |
Juvenile Sialidosis Type 2 |
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Optic atrophy, Cherry red spot of the macula, Dysmetria, Myoclonus, Lower limb spasticity, Hearin... |
ORPHA:93399 |
Arthrogryposis, Distal, Type 1C |
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Cleft palate, High palate, Thin vermilion border, Bifid uvula, Pursed lips, Cleft lip, Narrow mouth |
OMIM:619110 |
Bardet-Biedl Syndrome 4 |
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Retinal degeneration, Polydactyly, Rod-cone dystrophy, Hypogonadism, Syndactyly, Obesity, Cryptor... |
OMIM:615982 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Metatarsus adductus, Micrognathia, Pigmentary retinopathy, Intrauterine growth retardation, Talip... |
OMIM:614866 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
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Fine hair, Opacification of the corneal stroma, Sparse eyelashes, Hypoplastic nipples, Short stat... |
OMIM:211370 |
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
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Carious teeth, Micrognathia, Sparse eyelashes, Alopecia, Malar flattening, Telecanthus, Preaxial ... |
OMIM:129540 |
Mohr-Tranebjaerg Syndrome |
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Optic atrophy, Vestibular dysfunction, Babinski sign, Dystonia, Abnormal cochlea morphology, Orom... |
ORPHA:52368 |
Hurler Syndrome |
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Short stature, Cerebral palsy, Hearing impairment, Hydrocephalus, Camptodactyly of finger, Abnorm... |
ORPHA:93473 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
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Microphthalmia |
ORPHA:1574 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
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Non-midline cleft lip, Cleft palate, Lip pit |
ORPHA:1072 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
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