Syngnathia |
|
Cleft palate |
OMIM:119550 |
Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Deafness, Autosomal Recessive 109 |
|
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment |
OMIM:618013 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormally large globe, Optic atrophy, Micrognathia, Abnormal optic disc morphology, Tibial devia... |
ORPHA:363417 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Deafness, Autosomal Dominant 80 |
|
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... |
OMIM:619274 |
Lacrimoauriculodentodigital Syndrome |
|
Absent thumb, Conductive hearing impairment, Toe syndactyly, Micrognathia, Keratoconjunctivitis s... |
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 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplastic lacrimal duct, 2-3 finger syndactyly, Radial deviation of the 3rd finger, Broad hallu... |
OMIM:149730 |
Pierre Robin Syndrome And Oligodactyly |
|
Cleft palate, Pierre-Robin sequence |
OMIM:172880 |
Multiple Synostoses Syndrome 1 |
|
2-3 toe syndactyly, Stapes ankylosis, Conductive hearing impairment, Bilateral conductive hearing... |
OMIM:186500 |
Kid Syndrome |
|
Prelingual sensorineural hearing impairment, Corneal erosion, Coxa valga, Acne inversa, Keratocon... |
ORPHA:477 |
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome |
|
Non-midline cleft lip, Tooth agenesis, Cleft palate |
ORPHA:1074 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... |
OMIM:600791 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Optic atrophy, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Pos... |
ORPHA:1106 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Optic atrophy, Short metacarpal, Synophrys, Clinodactyly, Radioulnar synostosis, Carp... |
OMIM:605282 |
Nail-Patella Syndrome |
|
Biceps aplasia, Patellar dislocation, Triceps aplasia, Glomerulonephritis, Absent distal interpha... |
OMIM:161200 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Increased bone mineral density, Flared ilia... |
ORPHA:90652 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Spina bifida occulta, Iris coloboma, Phthisis bulbi, Microphakia, Rod-co... |
OMIM:612109 |
Sheldon-Hall Syndrome |
|
Round ear, Short stature, Ulnar deviation of the wrist, Micrognathia, Ulnar deviation of finger, ... |
ORPHA:1147 |
Waardenburg Syndrome, Type 2E |
|
Sensorineural hearing impairment, Premature graying of hair, Ocular albinism, White eyelashes, Ap... |
OMIM:611584 |
Pierpont Syndrome |
|
Broad foot, Decreased body weight, Chiari malformation, Prominent subcalcaneal fat pad, Large fle... |
OMIM:602342 |
Crouzon Syndrome |
|
Conjunctivitis, Conductive hearing impairment, Narrow internal auditory canal, Chiari malformatio... |
ORPHA:207 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, Hand clenching, Coloboma, Small for gest... |
ORPHA:1617 |
Kniest Dysplasia |
|
Dumbbell-shaped long bone, Vitreoretinopathy, Delayed patellar ossification, Enlarged joints, Dis... |
ORPHA:485 |
Cofs Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Sensorineural hearing impairment, ... |
ORPHA:1466 |
Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, Unilateral cryptorchidism, 2-3 toe cutane... |
OMIM:206920 |
Cockayne Syndrome Type 2 |
|
Conjunctivitis, Enamel hypoplasia, Macrotia, Flexion contracture, Mandibular prognathia, Delayed ... |
ORPHA:90322 |
Spondylo-Ocular Syndrome |
|
Abnormal antihelix morphology, Abnormal eyebrow morphology, Short stature, Iris hypopigmentation,... |
ORPHA:85194 |
Pierpont Syndrome |
|
Chiari malformation, Uplifted earlobe, Deep palmar crease, Telecanthus, Hearing impairment, Poste... |
ORPHA:487825 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Conductive hearing impairment, Sensorineural hearing impairment,... |
ORPHA:1307 |
Noonan Syndrome |
|
Downslanted palpebral fissures, Sensorineural hearing impairment, Short stature, Coarse hair, Mic... |
ORPHA:648 |
Zika Virus Disease |
|
Wrist swelling, Conjunctivitis, Myelitis, Transient hearing impairment, Arthritis, Retinal pigmen... |
ORPHA:448237 |
Humero-Radial Synostosis |
|
Meningocele, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia affecting the eye, Elbow ankylos... |
ORPHA:3265 |
Muenke Syndrome |
|
Sensorineural hearing impairment, Short foot, Coronal craniosynostosis, Hydrocephalus, Carpal syn... |
ORPHA:53271 |
Frontometaphyseal Dysplasia 1 |
|
Camptodactyly of finger, Wrist flexion contracture, Coxa valga, Delayed eruption of teeth, Elbow ... |
OMIM:305620 |
Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Microtia, Micrognathia, Abnormal metacarpal morphology, Abnormal pelvic girdle... |
ORPHA:3429 |
Proximal Symphalangism |
|
Camptodactyly of finger, Metacarpophalangeal synostosis, Sensorineural hearing impairment, Finger... |
ORPHA:3250 |
Mucolipidosis Type Iii |
|
Hearing abnormality, Short stature, Large iliac wing, Hypoplastic inferior ilia, Craniofacial hyp... |
ORPHA:577 |
Deafness, X-Linked 6 |
|
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment |
OMIM:300914 |
Brachydactyly, Type B2 |
|
Proximal symphalangism of hands, Absent phalangeal crease, Aplasia/Hypoplasia of the middle phala... |
OMIM:611377 |
Tarsal-Carpal Coalition Syndrome |
|
Proximal symphalangism of hands, Hearing abnormality, Progressive fusion 2nd-5th pip joints, Hume... |
OMIM:186570 |
Warburg Micro Syndrome 1 |
|
Macrotia, Optic atrophy, Short stature, Cerebellar hypoplasia, Micrognathia, Developmental catara... |
OMIM:600118 |
Cleft Palate, Isolated |
|
Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Xeroderma Pigmentosum, Complementation Group D |
|
Conjunctivitis, Telangiectasia, Sensorineural hearing impairment, Entropion, Keratoconjunctivitis... |
OMIM:278730 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Short stature, Hydrocephalus, Ataxia, Impaired pain sensation, Al... |
ORPHA:1532 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Optic atrophy, Inability to walk, Hip dysplasia, Micrognathia, Delayed spe... |
OMIM:617183 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Retinopathy, Optic atrophy, Short stature, Cerebellar hypoplasia, Micrognathia, Macular atrophy, ... |
OMIM:616171 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Autosomal Dominant Keratitis |
|
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Corneal neovascularization, Abnormal c... |
ORPHA:2334 |
Bartsocas-Papas Syndrome 2 |
|
Wide anterior fontanel, Small hand, 2-5 finger cutaneous syndactyly, Ankyloblepharon, Micrognathi... |
OMIM:619339 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Knee flexion contracture, Downslanted palpebral fissures, Vertebral fusion, Hip contracture, Shor... |
OMIM:178110 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short stature, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Abn... |
ORPHA:2370 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Skewfoot, Broad foot, Flexion contracture, Micrognathia, Elbow flexion contracture, Stiff ankle, ... |
ORPHA:93307 |
Charge Syndrome |
|
Gonadotropin deficiency, Coloboma, Micrognathia, Lop ear, Parathyroid hypoplasia, Iris coloboma, ... |
OMIM:214800 |
Spondylocarpotarsal Synostosis Syndrome |
|
Delayed skeletal maturation, Limited elbow extension, Scapular winging, Disproportionate short-tr... |
OMIM:272460 |
Cockayne Syndrome Type 1 |
|
Foot joint contracture, Optic atrophy, Difficulty walking, Hypoplasia of the primary teeth, Heari... |
ORPHA:90321 |
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies |
|
High anterior hairline, Tapered finger, Delayed speech and language development, Thin eyebrow, Re... |
OMIM:618147 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Shoulder dislocation, Lagophthalmos, Tarsal sclerosis, Coxa valga, Cone/cone-rod dystrophy, Optic... |
ORPHA:404454 |
Otodental Syndrome |
|
Abnormal molar morphology, Periodontitis, Retinal coloboma, Delayed eruption of teeth, Pulp calci... |
ORPHA:2791 |
Cleft Palate-Lateral Synechia Syndrome |
|
Everted lower lip vermilion, Cleft palate, Oral synechia, Narrow mouth |
ORPHA:2016 |
Trichothiodystrophy |
|
Tiger tail banding, Multiple joint contractures, Hypoplasia of mandible relative to maxilla, Epic... |
ORPHA:33364 |
Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Patellar dislocation, Short metacarpal, Short thumb, Cuboidal metacarpal, Hip dislocation, Joint ... |
ORPHA:968 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Abnormal antihelix morphology, Conductive hearing impairment, Flexion contracture, Chiari malform... |
ORPHA:95699 |
Cleft Palate-Stapes Fixation-Oligodontia Syndrome |
|
Bilateral conductive hearing impairment, Abnormality of the ankle, Abnormality of the wrist, Carp... |
ORPHA:2010 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
S-shaped palpebral fissures, Thick eyebrow, Telecanthus, Decreased fertility, Ectopic lacrimal pu... |
ORPHA:572333 |
Frontonasal Dysplasia 1 |
|
Anterior basal encephalocele, Conductive hearing impairment, Cranium bifidum occultum, Coloboma, ... |
OMIM:136760 |
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Conjunctivitis, Downslanted palpebral fissures, Microtia, Synophrys, Micrognathia, Long palpebral... |
OMIM:602562 |
Mesomelia-Synostoses Syndrome |
|
Micrognathia, Abnormality of the wrist, Metatarsal synostosis, Abnormality of the ankle, Telecant... |
ORPHA:2496 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Sparse eyebrow, Lipomas of eyelids, Coloboma, Lacrimal punctal atresia, Widow's peak, Clinodactyl... |
ORPHA:2399 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Cerebellar hypoplasia, Micrognathia, Intrauterine growth retardation, Microphthalmia, Rocker bott... |
OMIM:616570 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Galactosialidosis |
|
Corneal opacity, Hearing impairment, Cherry red spot of the macula |
ORPHA:351 |
Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Aplasia/Hypoplasia of the fibula, Short stature, Synostosis of carpal bones, Abnormal morphology ... |
ORPHA:2639 |
Temtamy Syndrome |
|
Genu varum, Short toe, Micrognathia, Clinodactyly of the 5th finger, Iris coloboma, Joint hyperfl... |
ORPHA:1777 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Paresthesia, Short stature, Micrognathia, Malar prominence, Long eyelash... |
ORPHA:48431 |
Trochlea Of The Humerus, Aplasia Of |
|
Cleft palate |
OMIM:191000 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Muckle-Wells Syndrome |
|
Conjunctivitis, Recurrent aphthous stomatitis, Short stature, Progressive sensorineural hearing i... |
OMIM:191900 |
22Q11.2 Deletion Syndrome |
|
Meningocele, Conductive hearing impairment, Hypoplasia of the thymus, Patellar dislocation, Optic... |
ORPHA:567 |
Dysplasia Epiphysealis Hemimelica |
|
Genu varum, Genu valgum, Recurrent fractures, Flattened femoral head, Accelerated skeletal matura... |
ORPHA:1822 |
Osebold-Remondini Syndrome |
|
Short tibia, Short toe, Short phalanx of finger, Short stature, Hypoplasia of the radius, Carpal ... |
OMIM:112910 |
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Patellar dislocation, Coxa vara, Short stature, Micrognath... |
OMIM:147891 |
Orofaciodigital Syndrome Type 1 |
|
Epicanthus, Micrognathia, Coarse hair, Postaxial hand polydactyly, Sparse hair, Telecanthus, Hear... |
ORPHA:2750 |
20P13 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Polydactyly, Retinopathy, Hypoplastic helices, Decreased body wei... |
ORPHA:313781 |
Alpha-Mannosidosis |
|
Dental malocclusion, Macrotia, Avascular necrosis, Mandibular prognathia, Arthritis, Hypoplastic ... |
ORPHA:61 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Radial deviation of the hand, Short 4th finger, Retrognathia, Micrognathi... |
ORPHA:2756 |
Erythrokeratodermia Variabilis |
|
Alopecia, Tapered finger, Weight loss, Abnormal testis morphology, Short stature, Skin rash, Cata... |
ORPHA:317 |
Dermatoosteolysis, Kirghizian Type |
|
Dystrophic toenail, Abnormal metaphysis morphology, Abnormal foot morphology, Abnormality of the ... |
ORPHA:1657 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Knee flexion contracture, Macrotia, Sparse lateral eyebrow, Micrognathia, Delayed speech and lang... |
OMIM:619694 |
Distal Monosomy 10Q |
|
Tapered finger, Epicanthus, Micrognathia, Hip dislocation, Morphological abnormality of the vesti... |
ORPHA:96148 |
Symphalangism, Proximal, 1A |
|
Proximal symphalangism of hands, Metacarpophalangeal synostosis, Stapes ankylosis, Conductive hea... |
OMIM:185800 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, Hypogonadism, Epicanthus, Short stature, Microcornea, Cataract, Growth delay, Micro... |
ORPHA:2528 |
Cleft Lip With Or Without Cleft Palate |
|
Non-midline cleft lip, Submucous cleft of soft and hard palate, Median cleft lip and palate, Medi... |
ORPHA:1991 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Winchester Syndrome |
|
Arthropathy, Generalized osteoporosis, Hirsutism, Broad metacarpals, Corneal opacity, Carpal oste... |
OMIM:277950 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Delayed cranial suture closure, Inability to walk, Hearing impairment, Postnatal growth retardati... |
ORPHA:357058 |
Apert Syndrome |
|
Morphological abnormality of the semicircular canal, Downslanted palpebral fissures, Aplasia/Hypo... |
ORPHA:87 |
Autoinflammation With Arthritis And Dyskeratosis |
|
Thyroiditis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uveitis,... |
OMIM:617388 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Flexion contracture, Coxa valga, Delayed eruption of teeth, Micrognathia, Elbow flexion contractu... |
OMIM:214150 |
Osteoporosis-Pseudoglioma Syndrome |
|
Exudative vitreoretinopathy, Increased susceptibility to fractures, Crumpled long bones, Short st... |
ORPHA:2788 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Lens subluxation, Arachnodactyly, Retinal detachme... |
ORPHA:171844 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Epicanthus, Micrognathia, Repetitive compulsive behavior, Eczema, Arthrogryposis multiplex congen... |
ORPHA:352490 |
Muckle-Wells Syndrome |
|
Camptodactyly of finger, Conjunctivitis, Broad foot, Recurrent aphthous stomatitis, Optic atrophy... |
ORPHA:575 |
Jackson-Weiss Syndrome |
|
Broad first metatarsal, 2-3 toe syndactyly, Broad distal phalanx of the hallux, Short first metat... |
OMIM:123150 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Sensorineural hearing impairment, Posterior embryotoxon, Optic atrophy, Ptosis, Iris coloboma, Ca... |
ORPHA:1473 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Coloboma, Short stature, Ocular anterior segment dysgenesis, Clinodactyly, Syndactyly, Iris colob... |
OMIM:610023 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Wrist swelling, Ulnar deviation of the hand or of fingers of the hand, Inability to walk, Wrist p... |
OMIM:166300 |
Acromesomelic Dysplasia, Grebe Type |
|
Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar... |
ORPHA:2098 |
Mesomelic Dysplasia, Nievergelt Type |
|
Camptodactyly of finger, Genu varum, Genu valgum, Finger syndactyly, Abnormality of the wrist, Ra... |
ORPHA:2633 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Short stature, Dumbbell-shaped humerus, Abnormality of the humerus, Syno... |
ORPHA:1836 |
Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... |
ORPHA:171673 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Cleft soft palate, Oligodontia of primary teeth |
OMIM:216300 |
Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Gait ataxia, Mandibular prognathia, Optic atrophy, Spastic gait, Hip dysplasia, Micrognathia, Pos... |
ORPHA:496790 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Wrist flexion contracture, Abnormal retinal morphology, Decreased body w... |
OMIM:610758 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Coloboma, Absent lacrimal punctum, ... |
OMIM:167730 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Retrognathia, 2-3 toe syndactyly, Mandibular prognathia, Micrognathia, Delayed speech and languag... |
OMIM:618914 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly, Rod-cone dystrophy, Hypogonadism, Short stature, Retinal degeneration, Recurrent oti... |
OMIM:615993 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Downslanted palpebral fissures, Retinal fold, Upslanted palpebral fissure, Mandibular prognathia,... |
OMIM:152950 |
Warburg-Cinotti Syndrome |
|
Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, Conductive hearing im... |
OMIM:618175 |
Moebius Syndrome |
|
Short phalanx of finger, Epicanthus, Micrognathia, Camptodactyly, Radial deviation of finger, Art... |
OMIM:157900 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Sensorineural hearing impairment, Corneal opacity |
ORPHA:1490 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Absent phalangeal crease, Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, T... |
OMIM:618469 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Flexion contracture, Tapered finger, Micrognathia, Keratoconjunctivitis sicca, Hip dislocation, P... |
OMIM:616007 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Coxa valga, Optic nerve hypoplasia, Talipes equinovalgus, Abnormal left ventricular function, Hir... |
OMIM:301056 |
Gombo Syndrome |
|
Microphthalmia |
OMIM:233270 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Conjunctivitis, 2-3 toe syndactyly, Sparse body hair, Conductive hearing impairment, Absent eyela... |
OMIM:106260 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Tapered finger, Epicanthus, Synophrys, Micrognathia, Overlapping toe, Prominent metopic ridge, He... |
OMIM:613792 |
Poikiloderma With Neutropenia |
|
Micrognathia, Recurrent sinusitis, Skin rash, Recurrent otitis media, Low posterior hairline, Car... |
OMIM:604173 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Retrognathia, Retinopathy, Optic atrophy, Cerebellar hypoplasia, Delayed speech and language deve... |
OMIM:619422 |
Norrie Disease |
|
Optic atrophy, Cachexia, Ectopia lentis, Abnormal vitreous humor morphology, Aplasia/Hypoplasia o... |
ORPHA:649 |
Acromesomelic Dysplasia 3 |
|
Aplasia of the proximal phalanx of the 2nd finger, Broad foot, Short phalanx of finger, Radial de... |
OMIM:609441 |
Temtamy Syndrome |
|
Downslanted palpebral fissures, Lens luxation, Micrognathia, Hypoplasia of teeth, Lop ear, Hip di... |
OMIM:218340 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Decreased fertility, Retrognathia, Macrotia, Trichorrhexis nodosa, Optic atrophy, Epicanthus, Bri... |
OMIM:234050 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Cat-Eye Syndrome |
|
Downslanted palpebral fissures, Short stature, Hip dysplasia, Iris coloboma, Microphthalmia, Chor... |
ORPHA:195 |
Autosomal Agammaglobulinemia |
|
Conjunctivitis, Osteomyelitis, Bronchiectasis, Epicanthus, Hepatitis, Arthritis, Skin rash, Exter... |
ORPHA:33110 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
X-Linked Agammaglobulinemia |
|
Conjunctivitis, Alopecia, Sensorineural hearing impairment, Osteomyelitis, Weight loss, Short sta... |
ORPHA:47 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Abnormality of the ear, Macrotia, Anophthalmia |
OMIM:600776 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Obtuse angle of mandi... |
ORPHA:2741 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Genu valgum, Aplasia/Hypoplasia of the lens, Cataract, Cryptorchidism |
ORPHA:1381 |
Deafness, Autosomal Dominant 77 |
|
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus |
OMIM:618915 |
48,Xxyy Syndrome |
|
Epicanthus, Delayed eruption of teeth, Taurodontia, Elbow dislocation, Abnormal shoulder morpholo... |
ORPHA:10 |
Short Syndrome |
|
Abnormal pupil morphology, Alopecia, Megalocornea, Sensorineural hearing impairment, Posterior em... |
ORPHA:3163 |
Sandestig-Stefanova Syndrome |
|
Retrognathia, Epicanthus, Underdeveloped tragus, Small for gestational age, Clinodactyly, Camptod... |
OMIM:618804 |
Crouzon Syndrome |
|
Conjunctivitis, Sagittal craniosynostosis, Conductive hearing impairment, Mandibular prognathia, ... |
OMIM:123500 |
Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Keratoconjunctivitis, Corneal neovascularization, Chronic mucocutaneous candidiasis, Re... |
OMIM:158310 |
Vernal Keratoconjunctivitis |
|
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... |
ORPHA:70476 |
Rubinstein-Taybi Syndrome |
|
Epicanthus, Micrognathia, Abnormal distal phalanx morphology of finger, Telecanthus, Hearing impa... |
ORPHA:783 |
Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Epicanthus, Blepharophimosis, Broad eyebrow, Hip dysplasia, Micrognathia, Intraute... |
ORPHA:494344 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Conjunctivitis, Sparse eyebrow, Enamel hypoplasia, Alopecia, Folliculitis, Scarring alopecia of s... |
OMIM:612843 |
Sialidosis Type 2 |
|
Pedal edema, Flexion contracture, Abnormal macular morphology, Short stature, Delayed speech and ... |
ORPHA:87876 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Periorbital dermoid cyst, Lacrimal duct stenosis, Conjunctivitis, Dental malocclusion, Tapered fi... |
OMIM:615560 |
Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, Aplasia/Hypoplasia of the eyebrow,... |
ORPHA:1794 |
Cohen Syndrome |
|
Tapered finger, Optic atrophy, Micrognathia, Iris coloboma, Abnormal eyelash morphology, Thick ey... |
ORPHA:193 |
Multiple Synostoses Syndrome 3 |
|
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... |
OMIM:612961 |
Christianson Syndrome |
|
Gait ataxia, Aplasia/Hypoplasia of the cerebellum, Macrotia, Mandibular prognathia, Truncal ataxi... |
ORPHA:85278 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Conjunctivitis, Purulent rhinitis, Arthritis, Failure to thrive, Otitis media, Failure to thrive ... |
OMIM:601457 |
Carpenter Syndrome 1 |
|
Conductive hearing impairment, Coxa valga, Lateral displacement of patellae, Optic atrophy, Epica... |
OMIM:201000 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Delayed eruption of teeth, Ectopia lentis, Iris coloboma, Hearing impairment,... |
ORPHA:2712 |
Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/hypoplasia of the femur, Micrognathia, Dislocated radial head, I... |
ORPHA:2839 |
Dyggve-Melchior-Clausen Disease |
|
Hypoplastic acetabulae, Inability to walk, Difficulty walking, Limited elbow extension, Abnormali... |
ORPHA:239 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
Adams-Oliver Syndrome 2 |
|
Retrocerebellar cyst, Alopecia, Optic atrophy, Cerebellar hypoplasia, Micrognathia, Delayed speec... |
OMIM:614219 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity, Ataxia, Progressive cerebellar ataxia |
ORPHA:3177 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Epicanthus, Delayed eruption of teeth, Micrognathia, Broad long bones, Delayed skeletal maturatio... |
OMIM:257850 |
Cousin Syndrome |
|
Wrist flexion contracture, 2-3 toe syndactyly, Humeroradial synostosis, Micrognathia, Camptodacty... |
OMIM:260660 |
Dermatitis, Atopic |
|
Conjunctivitis, Allergic rhinitis, Eczema, Cataract, Recurrent skin infections, Keratoconus, Atop... |
OMIM:603165 |
Pseudohypoparathyroidism Type 1A |
|
Short 4th metacarpal, Delayed eruption of teeth, Increased bone mineral density, Choreoathetosis,... |
ORPHA:79443 |
Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metatarsal synostosis, Cl... |
ORPHA:93406 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Horizontal eyebrow, Short stature, Epicanthus, Inability to walk, Inferior cerebellar vermis hypo... |
OMIM:618571 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Small for gestational age, Micrognathia, Developmental cataract, Catarac... |
OMIM:610756 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Delayed cranial suture closure, Aplastic clavicle, Wide anterior fontanel, Coronal craniosynostos... |
ORPHA:85199 |
Fontaine Progeroid Syndrome |
|
Conductive hearing impairment, Recurrent aspiration pneumonia, Synophrys, Micrognathia, Delayed s... |
OMIM:612289 |
Fatco Syndrome |
|
Finger syndactyly, Short stature, Tarsal synostosis, Abnormality of tibia morphology, Split hand,... |
ORPHA:2492 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Corneal opacity, Large for gestational age, Microcornea |
ORPHA:2432 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Downslanted palpebral fissures, Synophrys, Micrognathia, Delayed speech and language development,... |
OMIM:615761 |
Microtriplication 11Q24.1 |
|
Synophrys, Metatarsus adductus, Thick eyebrow, Hearing impairment, Talipes equinovarus, Posterior... |
ORPHA:289522 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft palate, Bifid uvula, Cleft soft palate, Unilateral cleft lip |
ORPHA:2736 |
Mucopolysaccharidosis, Type Ivb |
|
Pointed proximal second through fifth metacarpals, Coxa valga, Grayish enamel, Constricted iliac ... |
OMIM:253010 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency |
OMIM:617732 |
Warburg Micro Syndrome 3 |
|
Ankle clonus, Macrotia, Flexion contracture, Optic atrophy, Inability to walk, Decreased testicul... |
OMIM:614222 |
Baraitser-Winter Syndrome 1 |
|
Retrognathia, Sensorineural hearing impairment, Short stature, Epicanthus, Low posterior hairline... |
OMIM:243310 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Wide anterior fontanel, Abnormality of the elbow, Abnormality of cranial sutures, Epi... |
ORPHA:163649 |
Orofaciodigital Syndrome X |
|
Retrognathia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Telecant... |
OMIM:165590 |
Igg4-Related Ophthalmic Disease |
|
Prostatitis, Abnormal lacrimal gland morphology, Abnormality of the extraocular muscles, Sialaden... |
ORPHA:449563 |
Bardet-Biedl Syndrome 5 |
|
Polydactyly, Rod-cone dystrophy, Hypogonadism, Syndactyly, Brachydactyly, Obesity, Macular dystrophy |
OMIM:615983 |
Transketolase Deficiency |
|
Conjunctivitis, Secondary amenorrhea, Delayed speech and language development, Uveitis, Absent sp... |
ORPHA:488618 |
De Barsy Syndrome |
|
Delayed closure of the anterior fontanelle, Epicanthus, Delayed eruption of teeth, Delayed skelet... |
ORPHA:2962 |
Sponastrime Dysplasia |
|
Hip subluxation, Broad foot, Microcoria, Chiari malformation, Epicanthus, Flat capital femoral ep... |
ORPHA:93357 |
Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
Martsolf Syndrome 1 |
|
Short phalanx of finger, Finger joint hypermobility, Epicanthus, Micrognathia, Cardiac arrest, Me... |
OMIM:212720 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Triphalangeal thumb, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... |
OMIM:610017 |
Trisomy 13 |
|
Abnormal antihelix morphology, Chiari malformation, Optic atrophy, Aplasia/Hypoplasia of the iris... |
ORPHA:3378 |
Chromosome 16Q22 Deletion Syndrome |
|
Short palpebral fissure, Sensorineural hearing impairment, Wide anterior fontanel, Epicanthus, Sm... |
OMIM:614541 |
Nievergelt Syndrome |
|
Genu valgum, Radioulnar synostosis, Metatarsal synostosis, Mesomelic short stature, Tarsal synost... |
OMIM:163400 |
De Sanctis-Cacchione Syndrome |
|
Conjunctivitis, Telangiectasia, Sensorineural hearing impairment, Entropion, Optic atrophy, Bilat... |
OMIM:278800 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Arthrogryposis, Distal, Type 1A |
|
Ulnar deviation of the hand or of fingers of the hand, Elbow flexion contracture, Camptodactyly, ... |
OMIM:108120 |
Congenital Rubella Syndrome |
|
Sensorineural hearing impairment, Short stature, Aplasia/Hypoplasia of the iris, Skin rash, Abnor... |
ORPHA:290 |
3P25.3 Microdeletion Syndrome |
|
Tapered finger, Epicanthus, 2-3 finger syndactyly, Micrognathia, Overlapping toe, Broad hallux, B... |
ORPHA:435638 |
8Q21.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, Finger syndactyly, Epicanthus, Blepharop... |
ORPHA:284160 |
Immunodeficiency, Common Variable, 3 |
|
Conjunctivitis, Recurrent sinusitis, Recurrent otitis media |
OMIM:613493 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Delayed closure of the anterior fontanelle, Delayed eruption of teeth,... |
OMIM:259600 |
Gm1 Gangliosidosis |
|
Camptodactyly of finger, Optic atrophy, Hirsutism, Abnormal metaphysis morphology, Unsteady gait,... |
ORPHA:354 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Epicanthus, Delayed speech and language development, Joint laxity, Posteriorly rotated ears, Low-... |
OMIM:619548 |
Microphthalmia, Isolated 2 |
|
Microphthalmia |
OMIM:610093 |
Arboleda-Tham Syndrome |
|
Optic atrophy, Epicanthus, Recurrent aspiration pneumonia, Prominent antihelix, Short hallux, Ant... |
OMIM:616268 |
Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
Cardiospondylocarpofacial Syndrome |
|
Conductive hearing impairment, Pseudoepiphyses, Epicanthus, Delayed skeletal maturation, Congenit... |
OMIM:157800 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Downslanted palpebral fissures, Epicanthus, Synophrys, Micrognathia, Delayed speech and language ... |
ORPHA:480907 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Ptosis, Tarsal synostosis, Joint stiffness, Posterior fusion of lumbosacral vertebrae |
ORPHA:2064 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the distal phalanges of the toes, Finger syndactyly, Cerebellar h... |
ORPHA:1647 |
Eye Defects-Arachnodactyly-Cardiopathy Syndrome |
|
Short stature, Radioulnar synostosis, Clinodactyly of the 5th finger, Limitation of joint mobilit... |
ORPHA:2725 |
Aniridia 1 |
|
Ectopia pupillae, Corneal erosion, Bilateral ptosis, Retinal vascular tortuosity, Hypoplasia of t... |
OMIM:106210 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal ... |
OMIM:615990 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Synophrys, Eczema, Hirsutism, Sparse hair, Chronic otitis media, Hearing impairment, Postnatal gr... |
OMIM:300966 |
Multiple Synostoses Syndrome 4 |
|
Broad foot, Otosclerosis, Overlapping toe, Brachydactyly, Tarsal synostosis, Pes planus |
OMIM:617898 |
Microphthalmia, Syndromic 13 |
|
Short stature, Microcornea, Ptosis, Iris coloboma, Anteverted ears, Microphthalmia, Chorioretinal... |
OMIM:300915 |
Palmoplantar Carcinoma, Multiple Self-Healing |
|
Finger joint hypermobility, Limbal stem cell deficiency, Corneal neovascularization, Chronic rhin... |
OMIM:615225 |
Talonavicular Coalition |
|
Foot pain, Proximal/middle symphalangism of 5th finger, Coalescence of tarsal bones, Clinodactyly... |
OMIM:186750 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Small for gestational age, Upper limb phocomelia, Syndactyly, Abnormal hip bone morp... |
ORPHA:294975 |
Bardet-Biedl Syndrome 11 |
|
Retinopathy, Polydactyly, Obesity, Hypogonadism |
OMIM:615988 |
Anterior Segment Dysgenesis 8 |
|
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... |
OMIM:617319 |
Zellweger Syndrome |
|
Brushfield spots, Sensorineural hearing impairment, Wide anterior fontanel, Optic atrophy, Epican... |
ORPHA:912 |
Usher Syndrome Type 1 |
|
Aplasia/Hypoplasia of the cerebellum, Sensorineural hearing impairment, Iris hypopigmentation, At... |
ORPHA:231169 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed cranial suture closure, Delayed eruption of teeth, Micrognathia, Palmoplantar hyperkerato... |
OMIM:601812 |
Trichothiodystrophy 1, Photosensitive |
|
Flexion contracture, Tiger tail banding, Keratoconjunctivitis sicca, Erythroderma, Sparse hair, T... |
OMIM:601675 |
Familial Cold Autoinflammatory Syndrome 1 |
|
Conjunctivitis, Arthritis, Skin rash, Uveitis, Hearing impairment |
OMIM:120100 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Megalocornea, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis |
OMIM:251750 |
Joubert Syndrome 10 |
|
Downslanted palpebral fissures, Rod-cone dystrophy, Epicanthus, Hirsutism, Growth delay, Low-set ... |
OMIM:300804 |
Benign Paroxysmal Torticollis Of Infancy |
|
Abnormal head movements, Vertigo |
ORPHA:71518 |
Immunodeficiency, Common Variable, 2 |
|
Conjunctivitis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia |
OMIM:240500 |
Waardenburg Syndrome, Type 4C |
|
Sensorineural hearing impairment, Hypogonadism, Premature graying of hair, White eyelashes, White... |
OMIM:613266 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula |
OMIM:258320 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia |
OMIM:611638 |
Familial Cold Urticaria |
|
Conjunctivitis, Arthritis, Sensorineural hearing impairment, Dysesthesia |
ORPHA:47045 |
Orofaciodigital Syndrome Xvii |
|
Retrognathia, Polydactyly, Decreased body weight, Short stature, Short middle phalanx of the 2nd ... |
OMIM:617926 |
Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, High anterior hairline, Sensorineural hearing impairment, Short stature, Microtia, M... |
OMIM:301022 |
Charge Syndrome |
|
Optic atrophy, Epicanthus, Anterior hypopituitarism, Delayed eruption of teeth, Iris coloboma, Ho... |
ORPHA:138 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Patellar dislocation, Epiphyseal stippling, Erythroderma, Bilateral talipes equinovarus, Sparse e... |
OMIM:302960 |
Clouston Syndrome |
|
Conjunctivitis, Sparse eyebrow, Alopecia, Short stature, Brittle hair, Abnormal foot morphology, ... |
OMIM:129500 |
Xeroderma Pigmentosum, Complementation Group G |
|
Small for gestational age, Ataxia, Pes cavus, Cataract, Tremor, Growth delay, Microphthalmia |
OMIM:278780 |
Cutis Laxa, Autosomal Dominant 3 |
|
Delayed cranial suture closure, Talipes equinovarus, Hip dislocation, Developmental cataract, Wor... |
OMIM:616603 |
Synostoses, Tarsal, Carpal, And Digital |
|
Metacarpophalangeal synostosis, Short metacarpal, Carpal synostosis, Aplasia/Hypoplasia of the mi... |
OMIM:186400 |
Megalocornea-Intellectual Disability Syndrome |
|
Metatarsus valgus, Downslanted palpebral fissures, Genu varum, Megalocornea, Sensorineural hearin... |
ORPHA:2479 |
Gorham-Stout Disease |
|
Mandibular pain, Osteomyelitis, Abnormal bone ossification, Abnormal finger morphology, Abnormal ... |
ORPHA:73 |
Joubert Syndrome 14 |
|
Meningocele, Coloboma, Optic atrophy, Epicanthus, Posteriorly rotated ears, Hydrocephalus, Ptosis... |
OMIM:614424 |
Microphthalmia With Brain And Digit Anomalies |
|
Sensorineural hearing impairment, Finger syndactyly, Anophthalmia, Retinal dystrophy, Inferior ce... |
ORPHA:139471 |
Cockayne Syndrome |
|
Somatic sensory dysfunction, Optic atrophy, Inability to walk, Retinal atrophy, Cachexia, Keratoc... |
ORPHA:191 |
Stickler Syndrome Type 2 |
|
Retinopathy, Sensorineural hearing impairment, Cataract, Corneal opacity, Retinal detachment, Abn... |
ORPHA:90654 |
Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Wrist pain, Abnormal morphology of the radius, Radioulnar sy... |
ORPHA:3269 |
Bardet-Biedl Syndrome 9 |
|
Irregular menstruation, Polydactyly, Rod-cone dystrophy, Retinal degeneration, Delayed speech and... |
OMIM:615986 |
Neuroocular Syndrome |
|
Lagophthalmos, Tapered finger, Synophrys, Lens coloboma, Iris coloboma, Peters anomaly, Blue irid... |
OMIM:619539 |
Pseudohypoparathyroidism Type 1C |
|
Short 4th metacarpal, Delayed eruption of teeth, Increased bone mineral density, Ectopic ossifica... |
ORPHA:79444 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Cleft palate, Bifid uvula, Submucous cleft hard palate |
ORPHA:2521 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Flexion contracture, Patellar dislocation, Hallux valgus, Multiple joint contractures, Micrognath... |
ORPHA:536471 |
Smith-Magenis Syndrome |
|
Conductive hearing impairment, Toe syndactyly, Synophrys, Micrognathia, Taurodontia, Hand polydac... |
ORPHA:819 |
Deafness, Autosomal Dominant 34, With Or Without Inflammation |
|
Conjunctivitis, Arthritis |
OMIM:617772 |
Suleiman-El-Hattab Syndrome |
|
Downslanted palpebral fissures, Polydactyly, Epicanthus, Synophrys, Clinodactyly, Palpebral thick... |
OMIM:618950 |
Jacobsen Syndrome |
|
Flexion contracture, Optic atrophy, Epicanthus, Micrognathia, Iris coloboma, Holoprosencephaly, A... |
OMIM:147791 |
Mesomelia-Synostoses Syndrome |
|
Short phalanx of finger, Downslanted palpebral fissures, Progressive forearm bowing, Tarsometatar... |
OMIM:600383 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Conjunctivitis, Recurrent pneumonia, Chronic sinusitis, Recurrent otitis media |
OMIM:612692 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Congenital Sialidosis Type 2 |
|
Polydactyly, Telangiectasia, Optic atrophy, Abnormal EKG, Generalized hypertrichosis, Hydrocephal... |
ORPHA:93400 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly, Rod-cone dystrophy, Hypogonadism, Retinal dystrophy, Obesity |
OMIM:615987 |
Tularemia |
|
Conjunctivitis, Erythema nodosum, Skin rash, Inflammatory abnormality of the eye, Cutaneous absce... |
ORPHA:3392 |
Hypocomplementemic Urticarial Vasculitis |
|
Conjunctivitis, Joint dislocation, Sensorineural hearing impairment, Small vessel vasculitis, Art... |
ORPHA:36412 |
Baraitser-Winter Syndrome 2 |
|
Retrognathia, Coloboma, Short stature, Long palpebral fissure, Ptosis, Hearing impairment, Microp... |
OMIM:614583 |
Incontinentia Pigmenti |
|
Camptodactyly of finger, Delayed eruption of teeth, Supernumerary nipple, Spina bifida occulta, O... |
ORPHA:464 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Epicanthus, Camptodactyly, Hearing impairment, Horizontal eyebrow, Frontal upsweep of hair, Ptosi... |
ORPHA:369891 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Camptodactyly of finger, Abnormal nasolacrimal system morphology, Corneal erosion, Scleritis, Ecz... |
ORPHA:2273 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short phalanx of finger, Coloboma, Cone/cone-rod dystrophy, Retinal atrophy, Narrow greater sciat... |
ORPHA:85167 |
Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Downslanted palpebral fissures, Sensorineural hearing impairment, Ulnar ... |
ORPHA:1529 |
Bardet-Biedl Syndrome 7 |
|
Polydactyly, 2-3 toe syndactyly, Rod-cone dystrophy, Hypogonadism, Clinodactyly, Malar flattening... |
OMIM:615984 |
Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opaci... |
ORPHA:163934 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Abnormal metaphysis morphology, Micrognathia, Cataract, Proximal placement of thumb, ... |
ORPHA:93267 |
Scheie Syndrome |
|
Genu valgum, Mandibular prognathia, Retinal degeneration, Pes cavus, Aortic regurgitation, Cornea... |
OMIM:607016 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Impaired vibration sensation in the lower limbs, Abnormal eyelid morphology, Spastic ataxia, Spas... |
ORPHA:251282 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Optic atrophy, Iris coloboma, Abnormal optic nerve morphology, Posteriorly rot... |
ORPHA:899 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Macroorchidism, Wrist flexion contracture, Macrotia, Flexion contracture, Small hand, Resting tre... |
OMIM:300055 |
Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Echolalia, Bilateral ptosis, Recurrent hand flapping, Overlapping toe, Astigmatism, Low-set ears,... |
OMIM:620021 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Flexion contracture, Hypoplastic helices, Repetitive compulsive behavior, Speech articulation dif... |
ORPHA:391372 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Epicanthus, Peters anomaly, Telecanthus, Rocker bottom foot, Posteriorly rotated ears, Short palp... |
OMIM:612582 |
Mucopolysaccharidosis Type 1 |
|
Retinopathy, Optic atrophy, Hypertrophic cardiomyopathy, Abnormal metaphysis morphology, Hearing ... |
ORPHA:579 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
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Shoulder dislocation, Hallux valgus, Micrognathia, Keratoconjunctivitis sicca, Hip dislocation, E... |
ORPHA:536532 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Keratosis Follicularis Spinulosa Decalvans, X-Linked |
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Conjunctivitis, Sparse eyebrow, Dystrophic fingernails, Folliculitis, Scarring alopecia of scalp,... |
OMIM:308800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
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Cerebellar dysplasia, Coloboma, Cerebellar hypoplasia, Cerebellar cyst, Hydrocephalus, Dandy-Walk... |
OMIM:613153 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Short metacarpal, Supernumerary tooth, Microcornea, Cataract, Microphthalm... |
ORPHA:627 |
Deafness, X-Linked 7 |
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Unilateral microphthalmos, Stenosis of the external auditory canal, Hearing impairment, Posterior... |
OMIM:301018 |
Aplasia Of Lacrimal And Salivary Glands |
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Carious teeth, Lacrimal gland hypoplasia, Absent lacrimal punctum, Lacrimal gland aplasia |
OMIM:180920 |
Isolated Congenital Alacrima |
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Conjunctivitis, Corneal erosion, Distichiasis, Lacrimal punctal atresia, Ptosis, Lacrimal gland h... |
ORPHA:91416 |
Distal Monosomy 6P |
|
Downslanted palpebral fissures, Posterior embryotoxon, Short foot, Epicanthus, Hypoplasia of the ... |
ORPHA:96125 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
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Female hypogonadism, Tympanosclerosis, Pigmentary retinopathy, Atrophic gastritis, Enamel hypopla... |
OMIM:240300 |
Immunodeficiency, Common Variable, 8, With Autoimmunity |
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Conjunctivitis, Atrophic gastritis, Bronchiectasis, Erythema nodosum, Arthritis, Thyroiditis, Rec... |
OMIM:614700 |
Tarsal-Carpal Coalition Syndrome |
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Tarsal synostosis, Abnormality of the ankle, Short stature |
ORPHA:1412 |
Immunodeficiency, Common Variable, 1 |
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Conjunctivitis, Bronchiectasis, Recurrent sinusitis, Recurrent otitis media, Recurrent pneumonia,... |
OMIM:607594 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
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Conjunctivitis, Alopecia, Sensorineural hearing impairment, Short stature, Failure to thrive, Ery... |
OMIM:242150 |
X-Linked Dominant Chondrodysplasia Punctata |
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Flexion contracture, Patellar dislocation, Epiphyseal stippling, Hip dislocation, Upper limb asym... |
ORPHA:35173 |
Mietens Syndrome |
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Coxa valga, Avascular necrosis of the capital femoral epiphysis, Coxa vara, Echolalia, Hypoplasia... |
ORPHA:2557 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Small earlobe, Short palpebral fissure, Aplasia of the distal phalanx of the 5th toe, Aplasia of ... |
ORPHA:364577 |
Rubinstein-Taybi Syndrome 1 |
|
Delayed cranial suture closure, Polydactyly, Flexion contracture, Patellar dislocation, Coloboma,... |
OMIM:180849 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Chromosome 8Q21.11 Deletion Syndrome |
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Short palpebral fissure, Downslanted palpebral fissures, Sensorineural hearing impairment, Short ... |
OMIM:614230 |
Rothmund-Thomson Syndrome, Type 2 |
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Premature graying of hair, Epicanthus, Delayed eruption of teeth, Micrognathia, Prominent antihel... |
OMIM:268400 |
Bartsocas-Papas Syndrome |
|
Absent thumb, Aplasia/Hypoplasia of the eyebrow, Finger syndactyly, Ankyloblepharon, Toe syndacty... |
ORPHA:1234 |
Monosomy 18P |
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Abnormal antihelix morphology, Alopecia, Macrotia, Short stature, Epicanthus, Micrognathia, Delay... |
ORPHA:1598 |
Acrootoocular Syndrome |
|
Conductive hearing impairment, Epicanthus, Grayish enamel, Micrognathia, Delayed eruption of teet... |
ORPHA:2980 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
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Short phalanx of finger, Short metatarsal, Short metacarpal, Angel-shaped phalanx, Short stature,... |
OMIM:617102 |
Lamb-Shaffer Syndrome |
|
Optic atrophy, Epicanthus, Fused cervical vertebrae, Hip dysplasia, Micrognathia, Delayed speech ... |
ORPHA:530983 |
2Q31.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Tapered finger, Coloboma, Epicanthus, Toe syndactyly, Synophrys, Microgn... |
ORPHA:251014 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Retrognathia, Sensorineural hearing impairment, Patellar hypoplasia, Coloboma, Dacryocystitis, Ec... |
ORPHA:464288 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1 |
|
Flexion contracture, Cerebellar dysplasia, Inability to walk, Calf muscle hypertrophy, Cerebellar... |
OMIM:613155 |
Microphthalmia, Lenz Type |
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Camptodactyly of finger, Complete duplication of thumb phalanx, Finger syndactyly, Short stature,... |
ORPHA:568 |
Weill-Marchesani Syndrome 2 |
|
Elbow flexion contracture, Ectopia lentis, Delayed skeletal maturation, Iridodonesis, Proportiona... |
OMIM:608328 |
Mucolipidosis Iv |
|
Optic atrophy, Retinal degeneration, Absent speech, Corneal opacity, Cerebellar atrophy, Opacific... |
OMIM:252650 |
Wagro Syndrome |
|
Downslanted palpebral fissures, Mandibular prognathia, Echolalia, Impaired social interactions, D... |
OMIM:612469 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia, Hearing impairment |
OMIM:120433 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Arachnodactyly, Aplasia/Hypoplasia affecting the eye, Sensorineural hearing impairment, Short sta... |
ORPHA:2719 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Chiari malformation, Hip dislocation, Eczema, Erythroderma, Postaxial hand polydactyly, Recurrent... |
OMIM:308205 |
Sanjad-Sakati Syndrome |
|
Aplasia/Hypoplasia affecting the eye, Small hand, Short stature, Micrognathia, Patchy osteosclero... |
ORPHA:2323 |
Cornelia De Lange Syndrome 5 |
|
Toe syndactyly, Synophrys, Micrognathia, Hirsutism, Limited elbow extension, Telecanthus, Hearing... |
OMIM:300882 |
Lowry-Maclean Syndrome |
|
Retrognathia, Downslanted palpebral fissures, Talon cusp, Megalocornea, Developmental glaucoma, D... |
ORPHA:2409 |
Severe Intellectual Disability And Progressive Spastic Paraplegia |
|
Generalized joint laxity, Shyness, Short stature, Acetabular dysplasia, Abnormal repetitive manne... |
ORPHA:280763 |
Bardet-Biedl Syndrome 14 |
|
Rod-cone dystrophy, Polydactyly, Obesity |
OMIM:615991 |
Mucopolysaccharidosis Type 4 |
|
Genu valgum, Joint dislocation, Coxa valga, Short stature, Grayish enamel, Gait disturbance, Dela... |
ORPHA:582 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Macrotia, Impaired social interactions, Delayed speech and language development, Recurrent hand f... |
ORPHA:544254 |
Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Aplasia/Hypoplasia involving the metacarpal b... |
ORPHA:570 |
Xeroderma Pigmentosum, Complementation Group A |
|
Conjunctivitis, Telangiectasia, Sensorineural hearing impairment, Entropion, Choreoathetosis, Ata... |
OMIM:278700 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Short stature, Keratoconjunctivitis sicca, Fine hair, Microcornea, Cataract, Sclerocornea, Microp... |
ORPHA:1806 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Inability to walk, Epicanthus, Micrognathia, Optic nerve hypoplasia, Metatarsus adductus, Delayed... |
ORPHA:300570 |
Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Epicanthus, Micrognathia, Camptodactyly, Pes cavus, Slender finger, Talipes equino... |
OMIM:251300 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Retrognathia, Downslanted palpebral fissures, Lacrimal duct stenosis, Sparse eyebrow, Arachnodact... |
ORPHA:73246 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Epicanthus, Hearing impairment, Limitation of joint mobility, Bilateral single transverse palmar ... |
ORPHA:261279 |
Weill-Marchesani Syndrome 3 |
|
Short stature, Joint stiffness, Ectopia lentis, Shallow anterior chamber, Brachydactyly, Aortic v... |
OMIM:614819 |
Waardenburg Syndrome, Type 3 |
|
Camptodactyly of finger, Mandibular prognathia, Sensorineural hearing impairment, Joint contractu... |
OMIM:148820 |
Microphthalmia, Isolated 4 |
|
Microphthalmia |
OMIM:613094 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Camptodactyly of finger, Abnormal nasolacrimal system morphology, High anterior hairline, Abnorma... |
ORPHA:3220 |
Fanconi Anemia, Complementation Group S |
|
Dental malocclusion, Short stature, Epicanthus, Blepharophimosis, Delayed speech and language dev... |
OMIM:617883 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short stature, Epicanthus, Micrognathia, Synostosis of carpal bones, Arrhythmia, Microphthalmia, ... |
ORPHA:3191 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
Acro-Renal-Ocular Syndrome |
|
Conductive hearing impairment, Coloboma, Epicanthus, Toe syndactyly, Short distal phalanx of the ... |
ORPHA:959 |
Ring Chromosome 10 Syndrome |
|
Abnormal antihelix morphology, Downslanted palpebral fissures, Tapered finger, Micrognathia, Cach... |
ORPHA:1438 |
Gomez-Lopez-Hernandez Syndrome |
|
Fusion of the cerebellar hemispheres, Downslanted palpebral fissures, Alopecia, Decreased respons... |
OMIM:601853 |
Microphthalmia, Syndromic 8 |
|
Short palpebral fissure, Mandibular prognathia, Blepharophimosis, Microcornea, Split foot, Microp... |
OMIM:601349 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Coloboma, Micrognathia, Broad hallux, Slender finger, Bilateral talipes equinovarus, Sparse hair,... |
ORPHA:251028 |
Congenital Primary Aphakia |
|
Retinal dysplasia, Microphthalmia, Congenital aphakia, Sclerocornea, Aplasia/Hypoplasia affecting... |
ORPHA:83461 |
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Conjunctivitis, Septic arthritis, Decreased response to growth hormone stimulation test, Prostati... |
OMIM:307200 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Delayed closure of the anterior fontanelle, Decreased body weight, Short stature, Sm... |
ORPHA:231140 |
Ritscher-Schinzel Syndrome 3 |
|
Downslanted palpebral fissures, Wide anterior fontanel, Short 1st metacarpal, Short first metatar... |
OMIM:619135 |
Muenke Syndrome |
|
Downslanted palpebral fissures, Short middle phalanx of toe, Dental malocclusion, Sensorineural h... |
OMIM:602849 |
Neurooculocardiogenitourinary Syndrome |
|
Sensorineural hearing impairment, Coloboma, Abnormal cerebellum morphology, Epicanthus, Bilateral... |
OMIM:618652 |
Wiedemann-Steiner Syndrome |
|
Short phalanx of finger, 2-3 toe syndactyly, Tapered finger, Short 5th finger, Epicanthus, Synoph... |
OMIM:605130 |
Ulnar Hemimelia |
|
Spinal dysraphism, Sclerotic forearm bones, Humeroradial synostosis, Aplasia of metacarpal bones,... |
ORPHA:93320 |
Branchio-Oculo-Facial Syndrome |
|
Upslanted palpebral fissure, Conductive hearing impairment, Preaxial hand polydactyly, Coloboma, ... |
ORPHA:1297 |
Hypertrichosis Cubiti |
|
Abnormal nasolacrimal system morphology, Downslanted palpebral fissures, Abnormal eyelid morpholo... |
ORPHA:2220 |
Frontorhiny |
|
Camptodactyly of finger, Cranium bifidum occultum, Encephalocele, Hypoplastic frontal sinuses, Ep... |
ORPHA:391474 |
Fragile X Syndrome |
|
Congenital macroorchidism, Macrotia, Mandibular prognathia, Abnormal head movements, Recurrent ha... |
OMIM:300624 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Coloboma, Optic atrophy, Retinal atrophy, Micrognathia, Meningoencephalocele, Optic nerve hypopla... |
OMIM:236670 |
Cone-Rod Dystrophy 16 |
|
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:614500 |
4Q21 Microdeletion Syndrome |
|
Short foot, Small hand, Cerebellar hypoplasia, Toe syndactyly, Synophrys, Delayed speech and lang... |
ORPHA:238750 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Prelingual sensorineural hearing impairment, Delayed eruption of teeth, Congenital bilateral ptos... |
ORPHA:73272 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Mucopolysaccharidosis Type 3 |
|
Conductive hearing impairment, Flexion contracture, Optic atrophy, Abnormality of the middle ear ... |
ORPHA:581 |
Cockayne Syndrome B |
|
Optic atrophy, Abnormal auditory evoked potentials, Ivory epiphyses of the phalanges of the hand,... |
OMIM:133540 |
Mmep Syndrome |
|
Triphalangeal thumb, Mandibular prognathia, Split foot, Microphthalmia, Cryptorchidism |
ORPHA:3434 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Conductive hearing impairment, Abnormal spermatogenesis, Abnormality of the mid... |
ORPHA:90646 |
Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Pseudohypoparathyroidism Type 1B |
|
Conjunctivitis, Enamel hypoplasia, Decreased response to growth hormone stimulation test, Paresth... |
ORPHA:94089 |
Marden-Walker Syndrome |
|
Arachnodactyly, Wide anterior fontanel, Joint contracture of the hand, Epicanthus, Blepharophimos... |
OMIM:248700 |
Braddock-Carey Syndrome 2 |
|
Retrognathia, Downslanted palpebral fissures, Clinodactyly, Microphthalmia, Hearing impairment, A... |
OMIM:619981 |
Biemond Syndrome Type 2 |
|
Coloboma, Hypogonadism, Short stature, Hydrocephalus, Delayed puberty, Preaxial polydactyly, Micr... |
ORPHA:141333 |
Pendred Syndrome |
|
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... |
ORPHA:705 |
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome |
|
Non-midline cleft lip, Lip pit, Cleft palate |
ORPHA:1072 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Epicanthus, Toe syndactyly, Aplasia/hypoplasia of the femur, Flared ilia... |
OMIM:609945 |
Ogden Syndrome |
|
Delayed cranial suture closure, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow... |
ORPHA:276432 |
Mucopolysaccharidosis, Type Vii |
|
Genu valgum, Flexion contracture, Sensorineural hearing impairment, Short stature, Postnatal grow... |
OMIM:253220 |
Alpha-Mannosidosis, Infantile Form |
|
Chiari malformation, Hypoplastic inferior ilia, Cortical thickening of long bone diaphyses, Osteo... |
ORPHA:309282 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Toe syndactyly, Ectopia lentis, Upper limb asymmetry, Iris coloboma, Hea... |
ORPHA:2092 |
Codas Syndrome |
|
Sensorineural hearing impairment, Short metacarpal, Epicanthus, Crumpled ear, Delayed eruption of... |
ORPHA:1458 |
Refsum Disease |
|
Retinopathy, Sensorineural hearing impairment, Short metacarpal, Abnormal foot morphology, Abnorm... |
ORPHA:773 |
Foxg1 Syndrome |
|
Decreased body weight, Short stature, Impaired social interactions, Stereotypical hand wringing, ... |
ORPHA:561854 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal dystrophy, Corneal opacity, Band keratopathy |
OMIM:300779 |
Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity, Intrauterine growth retardation |
ORPHA:1980 |
Hereditary Acrokeratotic Poikiloderma |
|
Camptodactyly of finger, Dystrophic toenail, Finger syndactyly, Keratoconjunctivitis, Short statu... |
ORPHA:2907 |
2Q23.1 Microdeletion Syndrome |
|
Short stature, Synophrys, Hip dysplasia, Delayed speech and language development, Clinodactyly of... |
ORPHA:228402 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Optic nerve dysplasia, Upslanted palpebral fissure, Brushfield spots, Hypoplasia of the thymus, J... |
OMIM:214110 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Rhizomelia, Short stature, Micr... |
ORPHA:163966 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Downslanted palpebral fissures, Polydactyly, Epicanthus, Hydrocephalus, Joint laxity, Large earlo... |
OMIM:602501 |
Multiple Sulfatase Deficiency |
|
Sensorineural hearing impairment, Optic atrophy, Short stature, Hydrocephalus, Abnormality of ret... |
ORPHA:585 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence |
OMIM:192445 |
Immunodeficiency 46 |
|
Conjunctivitis, Failure to thrive, Chronic oral candidiasis |
OMIM:616740 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Downslanted palpebral fissures, 2-3 toe syndactyly, Bilateral ptosis, Blepharophimosis, Micrognat... |
ORPHA:404440 |
Sialidosis Type 1 |
|
Retinopathy, Sensorineural hearing impairment, Short stature, Gait disturbance, Ataxia, Cataract,... |
ORPHA:812 |
Trisomy 18 |
|
Camptodactyly of finger, Chiari malformation, Epicanthus, Cachexia, Narrow pelvis bone, Iris colo... |
ORPHA:3380 |
Cockayne Syndrome Type 3 |
|
Conductive hearing impairment, Flexion contracture, Premature graying of hair, Retinal atrophy, K... |
ORPHA:90324 |
Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Sensorineural hearing impairment, Cutaneous finger syndactyly, Toe syndactyly... |
DECIPHER:46 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Hooded eyelid, Delayed closure of the anterior fontanelle, Short 5th finger, Toe syndactyly, Syno... |
OMIM:610759 |
Mosaic Trisomy 8 |
|
Abnormal antihelix morphology, Camptodactyly of finger, Macrotia, Patellar aplasia, Short stature... |
ORPHA:96061 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Tubulointerstitial nephritis, Abnormality of the orbital region, Optic nerve compression, Weight ... |
ORPHA:79078 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Patellar dislocation, Capitate-hamate fusion, Short foot, Coronal cranios... |
OMIM:614078 |
Sjogren-Larsson Syndrome |
|
Retinal pigment epithelial atrophy, Opacification of the corneal epithelium, Enamel hypoplasia, F... |
OMIM:270200 |
Hartsfield Syndrome |
|
Downslanted palpebral fissures, Encephalocele, Lobar holoprosencephaly, Ptosis, Aplasia/Hypoplasi... |
ORPHA:2117 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal fold, Short stature, Cerebellar hypoplasia, Retinal dystrophy, Abnormality of retinal pig... |
OMIM:251270 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Camptodactyly of finger, Flexion contracture, Hallux valgus, Premature graying of hair, Elbow fle... |
OMIM:256040 |
Familial Exudative Vitreoretinopathy |
|
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... |
ORPHA:891 |
Otopalatodigital Syndrome Type 1 |
|
Downslanted palpebral fissures, Hypoplastic frontal sinuses, Abnormality of the tarsal bones, Inc... |
ORPHA:90650 |
Limb-Mammary Syndrome |
|
Sparse eyebrow, Alopecia, Aplasia of the ovary, Absent lacrimal punctum, Toe syndactyly, Absent n... |
ORPHA:69085 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Retrognathia, Downslanted palpebral fissures, Sparse eyebrow, 2-3 toe syndactyly, High anterior h... |
OMIM:620098 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, 2-3 finger syndactyly, Congenital bilateral ptosis, Elbow flexion contra... |
ORPHA:1692 |
Microspherophakia With Hernia |
|
Retinal detachment, Microspherophakia, Superior lens subluxation |
OMIM:157150 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
2-3 toe syndactyly, Inability to walk, Epicanthus, Broad distal phalanx of the toes, Pes cavus, O... |
ORPHA:464738 |
Mucopolysaccharidosis, Type Vi |
|
Hypoplastic acetabulae, Flexion contracture, Delayed eruption of teeth, Sinus tachycardia, Flared... |
OMIM:253200 |
Ramos-Arroyo Syndrome |
|
High anterior hairline, Sparse scalp hair, Choriocapillaris atrophy, Decreased body weight, Dacry... |
ORPHA:1051 |
Trichothiodystrophy 3, Photosensitive |
|
Tiger tail banding, Trichorrhexis nodosa, Natal tooth, Brittle hair, Short stature, Bilateral cry... |
OMIM:616395 |
Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Conjunctivitis, Mitten deformity, Enamel hypoplasia, Flexion contracture, Alopecia, Corneal scarr... |
OMIM:226600 |
Juvenile Temporal Arteritis |
|
Conjunctivitis, Vasculitis, Cerebral ischemia, Allergic rhinitis |
ORPHA:26137 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalm... |
ORPHA:137902 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Short palpebral fissure, Cerebellar vermis atrophy, Epicanthus, Blepharophimosis, Micrognathia, D... |
OMIM:156610 |
Otopalatodigital Syndrome, Type I |
|
Delayed closure of the anterior fontanelle, Conductive hearing impairment, Coxa valga, Abnormalit... |
OMIM:311300 |
Bardet-Biedl Syndrome 4 |
|
Polydactyly, Rod-cone dystrophy, Hypogonadism, Retinal degeneration, Brachydactyly, Syndactyly, C... |
OMIM:615982 |
Adducted Thumbs Syndrome |
|
Cleft palate, Velopharyngeal insufficiency, High palate, High, narrow palate |
OMIM:201550 |
Gm1-Gangliosidosis, Type Iii |
|
Hypoplastic acetabulae, Short stature, Delayed speech and language development, Flared iliac wing... |
OMIM:230650 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Mesoaxial foot polydactyly, Bilateral sensorineural hearing impairment, 1-2 toe syndactyly, 4-5 t... |
ORPHA:488232 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/Hypoplasia of the maxilla, Abnormal retinal morphology, Hypoplasia of the thymus, Third d... |
ORPHA:40366 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Gorlin-Chaudhry-Moss Syndrome |
|
Conductive hearing impairment, Abnormal eyelid morphology, Short stature, Coronal craniosynostosi... |
ORPHA:2095 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Conductive hearing impairment, Epicanthus, Hypoplastic ischia, Cryptorchidism, Low-s... |
OMIM:616910 |
Oculodentodigital Dysplasia |
|
Conductive hearing impairment, Epicanthus, Taurodontia, Hip dislocation, Sparse hair, Slow-growin... |
OMIM:164200 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Conjunctivitis, Skin rash |
OMIM:603552 |
Joubert Syndrome 37 |
|
Short stature, Decreased testicular size, Prominent metopic ridge, Joint hypermobility, Absent sp... |
OMIM:619185 |
Hallermann-Streiff Syndrome |
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Micrognathia, Choreoathetosis, Iris coloboma, Sparse eyelashes, Optic disc coloboma, Sparse hair,... |
OMIM:234100 |
Hurler Syndrome |
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Flexion contracture, Coxa valga, Flared iliac wing, Hypoplasia of the femoral head, Hirsutism, He... |
OMIM:607014 |
Mend Syndrome |
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2-3 toe syndactyly, Abnormal auditory evoked potentials, Micrognathia, Overlapping toe, Broad hal... |
ORPHA:401973 |
Anterior Segment Dysgenesis 2 |
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Coloboma, Posterior synechiae of the anterior chamber, Microcornea, Cataract, Peters anomaly, Cor... |
OMIM:610256 |
Coffin-Siris Syndrome 11 |
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High palate, Cleft soft palate, Wide mouth, Esophageal atresia, Bifid uvula, Downturned corners o... |
OMIM:618779 |
Microphthalmia, Isolated, With Coloboma 9 |
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Macrotia, Ocular anterior segment dysgenesis, Delayed speech and language development, Narrow pal... |
OMIM:615145 |
Lacrimal Duct Defect |
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Conjunctivitis, Dacryocystitis, Dacryocystocele, Sinusitis, Lacrimal duct atresia |
OMIM:149700 |
Menkes Disease |
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Chorea, Chondrocalcinosis, Osteomyelitis, Recurrent fractures, Micrognathia, Intrauterine growth ... |
ORPHA:565 |
Isolated Osteopoikilosis |
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Tarsal sclerosis, Dacryocystitis, Abnormal long bone morphology, Abnormal bone ossification, Disc... |
ORPHA:166119 |
Bresek Syndrome |
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Alopecia, Decreased testicular size, Hydrocephalus, Intrauterine growth retardation, Optic nerve ... |
ORPHA:85284 |
Autoimmune Hypoparathyroidism |
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Autoimmune hypoparathyroidism, Conjunctivitis, Paresthesia, Increased bone mineral density, Ventr... |
ORPHA:36913 |
Micro Syndrome |
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Macrotia, Abnormal cerebellum morphology, Optic atrophy, Short stature, Micrognathia, Cerebellar ... |
ORPHA:2510 |
Bardet-Biedl Syndrome 1 |
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Broad foot, Attenuation of retinal blood vessels, Radial deviation of finger, Hirsutism, Postaxia... |
OMIM:209900 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
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Genu valgum, Mandibular prognathia, Tapered finger, Postaxial polydactyly, Short stature, Clinoda... |
OMIM:619721 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Polydactyly, Conductive hearing impairment, Patellar dislocation, Coloboma, Chiari malformation, ... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Polydactyly, Conductive hearing impairment, Patellar dislocation, Coloboma, Chiari malformation, ... |
ORPHA:353277 |
Mucous Membrane Pemphigoid |
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Corneal opacity |
ORPHA:46486 |
Nasolacrimal Duct Cyst |
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Dacryocystitis, Red eye, Narrow palpebral fissure, Chronic irritative conjunctivitis, Dacryocysto... |
ORPHA:141083 |
Tenorio Syndrome |
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Delayed cranial suture closure, Recurrent aphthous stomatitis, Mandibular prognathia, Delayed spe... |
OMIM:616260 |
Usher Syndrome Type 3 |
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Sensorineural hearing impairment, Iris hypopigmentation, Ataxia, Astigmatism, Cataract, Vestibula... |
ORPHA:231183 |
Optic Atrophy-Intellectual Disability Syndrome |
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Tapered finger, Optic atrophy, Epicanthus, Short stature, Optic disc hypoplasia, Repetitive compu... |
ORPHA:401777 |
Symphalangism, Distal |
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Distal foot symphalangism, Absent dorsal skin creases over affected joints, Distal symphalangism ... |
OMIM:185700 |
Mend Syndrome |
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2-3 toe syndactyly, Polydactyly, Micrognathia, Overlapping toe, Anterior polar cataract, Broad ha... |
OMIM:300960 |
Humeroradial Synostosis With Craniofacial Anomalies |
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Small earlobe, Humeroradial synostosis, Microtia, Carpal synostosis, Tarsal synostosis |
OMIM:236410 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Anophthalmia, Inability to walk, Synophrys, Long eyelashes, Abnormal repetitive mannerisms, Large... |
ORPHA:411986 |
Episodic Ataxia Type 4 |
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Abnormal head movements, Vertigo |
ORPHA:79136 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
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Ulnar deviation of the hand or of fingers of the hand, Epicanthus, Micrognathia, Epiphyseal stipp... |
OMIM:214100 |
Granulomatosis With Polyangiitis |
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Conjunctivitis, Retinal hemorrhage, Weight loss, Uveitis, Diffuse alveolar hemorrhage, Sinusitis,... |
OMIM:608710 |
3Mc Syndrome 3 |
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Short stature, Blepharophimosis, Auricular pit, Clinodactyly, Radioulnar synostosis, Ptosis, Epic... |
OMIM:248340 |
Dubowitz Syndrome |
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Epicanthus, Delayed eruption of teeth, Micrognathia, Eczema, Iris coloboma, Delayed skeletal matu... |
OMIM:223370 |
Cataract-Microcornea Syndrome |
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Microcornea, Iris coloboma, Cataract, Corneal opacity, Corneal dystrophy |
ORPHA:1377 |
Foveal Hypoplasia 2 |
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Posterior embryotoxon, Foveal hyperpigmentation, Optic nerve misrouting, Axenfeld anomaly, Astigm... |
OMIM:609218 |
Dermoids Of Cornea |
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Corneal opacity |
OMIM:304730 |
Sarcoidosis, Susceptibility To, 1 |
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Pulmonary arterial hypertension, Chorioretinitis, Weight loss, Bronchiectasis, Iridocyclitis, Art... |
OMIM:181000 |
Biotinidase Deficiency |
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Conjunctivitis, Alopecia, Sensorineural hearing impairment, Optic atrophy, Skin rash, Ataxia, Dif... |
OMIM:253260 |
Chromosome 2P16.1-P15 Deletion Syndrome |
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Epicanthus, Camptodactyly, Optic nerve hypoplasia, Metatarsus adductus, Telecanthus, Hearing impa... |
OMIM:612513 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
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2-3 toe syndactyly, Short 5th finger, Coloboma, Micrognathia, Abnormal optic disc morphology, Hip... |
ORPHA:508498 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
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Macrotia, Decreased response to growth hormone stimulation test, Cerebellar dysplasia, Short stat... |
ORPHA:457240 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
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Short palpebral fissure, Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phal... |
OMIM:608670 |
Warburg Micro Syndrome 2 |
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Macrotia, Flexion contracture, Clinodactyly of the 4th toe, Optic atrophy, Clinodactyly of the 5t... |
OMIM:614225 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
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Hearing abnormality, Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Ocular albin... |
ORPHA:1352 |
Ohdo Syndrome, X-Linked |
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Decreased body weight, Epicanthus, Micrognathia, Overlapping toe, Hearing impairment, Posteriorly... |
OMIM:300895 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
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Knee flexion contracture, Sparse eyebrow, Recurrent bacterial skin infections, Sensorineural hear... |
OMIM:148210 |
Microphthalmia With Linear Skin Defects Syndrome |
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Abnormal nasolacrimal system morphology, Mandibular aplasia, Abnormal testis morphology, Microgna... |
ORPHA:2556 |
Trichinellosis |
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Central retinal artery occlusion, Retinal hemorrhage, Conjunctivitis, Skin rash, Anisocoria, Vert... |
ORPHA:863 |
Woolly Hair Nevus |
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Curly hair, Patchy hypopigmentation of hair, Enlarged vestibular aqueduct, Fine hair, Congenital ... |
ORPHA:79414 |
Cenani-Lenz Syndrome |
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Toe syndactyly, Hip dislocation, Elbow dislocation, Hearing impairment, Abnormal dental enamel mo... |
ORPHA:3258 |
Mesomelic Dysplasia, Kantaputra Type |
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Radial bowing, Tarsal synostosis, Carpal synostosis |
OMIM:156232 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
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Cerebellar vermis atrophy, Optic atrophy, Epicanthus, Micrognathia, Epiphyseal stippling, Camptod... |
OMIM:614866 |
Cockayne Syndrome A |
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Optic atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Ivory epiphyses of the phala... |
OMIM:216400 |
Pde4D Haploinsufficiency Syndrome |
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Short phalanx of finger, Broad foot, Hypotension, Micrognathia, Broad hallux, Hearing impairment,... |
ORPHA:439822 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
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Lacrimal duct stenosis, Optic atrophy, Epicanthus, Short stature, Microretrognathia, Brachydactyl... |
ORPHA:457193 |
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