Metaphyseal Chondrodysplasia, Spahr Type |
|
Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti... |
ORPHA:2501 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis... |
OMIM:612350 |
Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo... |
OMIM:144750 |
Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Epicanthus, Rhizomelia, Abnormal dental enamel morphology, Cran... |
ORPHA:1515 |
Pyle Disease |
|
Mandibular prognathia, Metaphyseal dysplasia, Delayed eruption of teeth, Persistence of primary t... |
OMIM:265900 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short stature, Short middle phalanx of the 2nd finger, Hypoplasia of the m... |
OMIM:156510 |
Alpha-Mannosidosis |
|
Mandibular prognathia, Craniofacial hyperostosis, Bowing of the long bones, Cataract, Corneal opa... |
ORPHA:61 |
Craniosynostosis 3 |
|
Hallux valgus, Ptosis, Right unicoronal synostosis, Sagittal craniosynostosis, Dental malocclusio... |
OMIM:615314 |
Florid Cemento-Osseous Dysplasia |
|
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... |
ORPHA:83451 |
Brittle Cornea Syndrome 1 |
|
Joint laxity, Keratoconus, Epicanthus, Congenital hip dislocation, Keratoglobus, Abnormal cornea ... |
OMIM:229200 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Mandibular prognathia, Brachydactyly, Short stature, Abnormality of the dentition, Kyphosis, Dent... |
ORPHA:1858 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... |
ORPHA:2790 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Broad jaw, Bowing of the long bones, Recurrent fractures, Mandibular osteomyelitis, S... |
ORPHA:53697 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hallux valgus, Short stature, Kyphoscoliosis, Synophrys, Dental malocclusion, Deeply set eye |
OMIM:615541 |
Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Epicanthus, Broad hallux, Short stature, Highly arched eyebrow, Micrognathia, Carious... |
OMIM:613684 |
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia |
|
Mandibular prognathia, Epicanthus, Tapered finger, Long fingers, Dental malocclusion, High palate... |
OMIM:618292 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Mulibrey Nanism |
|
Dental crowding, Corneal dystrophy, Short stature, Hypertelorism, Absent frontal sinuses, Enamel ... |
OMIM:253250 |
Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... |
ORPHA:1802 |
Hyperostosis Corticalis Generalisata |
|
Mandibular prognathia, Generalized osteosclerosis, Cranial hyperostosis, Abnormal cortical bone m... |
ORPHA:3416 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis, Proptosis, Sh... |
ORPHA:2776 |
Trichothiodystrophy 9, Nonphotosensitive |
|
Joint laxity, Epicanthus, Sparse eyebrow, High, narrow palate, Dental malocclusion, Brachydactyly |
OMIM:619692 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Epicanthus, Hypertelorism, Kyphosis, Thick lower lip vermilion, Osteoporos... |
OMIM:234250 |
Muenke Syndrome |
|
Ptosis, Broad hallux, Hypertelorism, Capitate-hamate fusion, Dental malocclusion, Cone-shaped epi... |
OMIM:602849 |
Trichodentoosseous Syndrome |
|
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth |
OMIM:190320 |
Anonychia-Microcephaly Syndrome |
|
Clinodactyly of the 5th finger, Carious teeth, Abnormality of the dentition |
ORPHA:1094 |
Ck Syndrome |
|
Epicanthus, Dental crowding, Micrognathia, Almond-shaped palpebral fissure, Hyperlordosis, Kyphos... |
OMIM:300831 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Micrognathia, Abnormality of the dentition... |
ORPHA:576283 |
Frank-Ter Haar Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Beaking of vertebral bodies, Camptodactyly of f... |
ORPHA:137834 |
Intermediate Osteopetrosis |
|
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re... |
ORPHA:210110 |
Intellectual Disability, Buenos-Aires Type |
|
Mandibular prognathia, Abnormal dental morphology, Short stature, Blepharophimosis, Open bite, Hy... |
ORPHA:3079 |
Sclerosteosis |
|
Finger syndactyly, Craniofacial hyperostosis, Increased bone mineral density, 2-3 finger syndacty... |
ORPHA:3152 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Kyphosis, Dental malocclusion, Horner syndrome, Deeply... |
OMIM:141300 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Microcornea, Deeply set eye, Persistent... |
OMIM:257850 |
14Q11.2 Microdeletion Syndrome |
|
Epicanthus, Toe syndactyly, Exaggerated cupid's bow, Highly arched eyebrow, Micrognathia, Hyperte... |
ORPHA:261120 |
Trichorhinophalangeal Syndrome, Type I |
|
Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ... |
OMIM:190350 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Synophrys, Abnormal form of the vertebral bodies, Downturned corners of mo... |
ORPHA:1327 |
Mcdonough Syndrome |
|
Mandibular prognathia, Short stature, Micrognathia, Open bite, Kyphosis, Synophrys, Hypertelorism... |
ORPHA:2471 |
Microtriplication 11Q24.1 |
|
Keratoconus, Thick eyebrow, Short stature, Short neck, Metatarsus adductus, Hypertelorism, Synoph... |
ORPHA:289522 |
Intellectual Disability And Myopathy Syndrome |
|
Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Achilles tendon contr... |
OMIM:619719 |
Clark-Baraitser syndrome |
|
Joint laxity, Exaggerated median tongue furrow, Tapered finger, Kyphosis, Thick lower lip vermili... |
OMIM:300602 |
Maxillonasal Dysplasia, Binder Type |
|
Patchy distortion of vertebrae, Vertebral clefting, Dental malocclusion, Short distal phalanx of ... |
OMIM:155050 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Mandibular prognathia, Micrognathia, Irregular vertebral endplates, High palate, Amelogenesis imp... |
OMIM:618363 |
Tricho-Dento-Osseous Syndrome |
|
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... |
ORPHA:3352 |
Dysostosis, Stanescu Type |
|
Short neck, Hypoplasia of the maxilla, Increased bone mineral density, Short stature, Abnormal de... |
ORPHA:1798 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Short stature, Kyphoscoliosis, Micrognathia, Osteoporosis, Developmental catarac... |
OMIM:600118 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Overlapping toe, Broad hallux, Highly arched eyebrow, Micrognathia, Short stature, Hypertelorism,... |
ORPHA:293967 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Short stature, Hypertelorism, Limitation of joint mobility, Upper limb undergrowth, Short foot, T... |
ORPHA:166277 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Pierpont Syndrome |
|
Joint laxity, Thin upper lip vermilion, Telecanthus, Short neck, Hypertelorism, Short toe, Deeply... |
ORPHA:487825 |
Brachyolmia Type 1, Hobaek Type |
|
Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph... |
OMIM:271530 |
Monosomy 5P |
|
Microretrognathia, Finger syndactyly, Epicanthus, Short stature, Recurrent fractures, Short neck,... |
ORPHA:281 |
Osteogenesis Imperfecta, Type Xxii |
|
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip... |
OMIM:619795 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Short stature, Hypoplasia of the maxilla, Genu valgum, Slender long bones with narrow... |
OMIM:608154 |
Pycnodysostosis |
|
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... |
ORPHA:763 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Short stature, Micrognathia, Diastema, Short neck, Dental malocclusion, Upslanted palpebral fissu... |
ORPHA:436245 |
Primary Condylar Hyperplasia |
|
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... |
ORPHA:477781 |
Zimmermann-Laband Syndrome |
|
Micrognathia, Short neck, Overtubulated long bones, High palate, Bifid uvula, Hypertelorism, Supe... |
ORPHA:3473 |
Cornelia De Lange Syndrome 5 |
|
Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Downturned corners of mouth, De... |
OMIM:300882 |
Amelogenesis Imperfecta |
|
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... |
ORPHA:88661 |
Filippi Syndrome |
|
2-4 toe syndactyly, Postnatal growth retardation, Cutaneous syndactyly, Finger clinodactyly, Thin... |
OMIM:272440 |
Pierpont Syndrome |
|
Short neck, Microcornea, Deeply set eye, Widely spaced teeth, Short palm, Prominent fingertip pad... |
OMIM:602342 |
Stickler Syndrome Type 1 |
|
Cataract, Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platys... |
ORPHA:90653 |
48,Xxyy Syndrome |
|
Delayed eruption of teeth, Broad jaw, Epicanthus, Abnormal dental enamel morphology, Blepharophim... |
ORPHA:10 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Short stature, Short neck, Hypertelorism, Thick lower lip ... |
ORPHA:2563 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Synophrys, Flexion contracture, Short philtrum, Widely spaced teeth, Clinodactyly of the 5th fing... |
OMIM:619293 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Hypoplasia of the maxilla, Neonatal epi... |
OMIM:101800 |
Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Epicanthus, Arachnodactyly, Short stature, Limited wrist extension, Kyphosis, Absent... |
OMIM:108145 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Short stature, Cleft soft p... |
OMIM:616331 |
Brittle Cornea Syndrome |
|
Hallux valgus, Arachnodactyly, Corneal dystrophy, Abnormality of the dentition, Corneal erosion, ... |
ORPHA:90354 |
Chung-Jansen Syndrome |
|
Epicanthus, Thick eyebrow, Micrognathia, Tapered finger, Hypertelorism, Synophrys, Upslanted palp... |
OMIM:617991 |
Dentin Dysplasia, Type I |
|
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... |
OMIM:125400 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Hyperte... |
OMIM:605282 |
Larsen-Like Syndrome |
|
Joint laxity, Short stature, Kyphoscoliosis, Hypertelorism, Wide anterior fontanel, Dental malocc... |
OMIM:608545 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Thin upper lip vermilion, Epicanthus, Thick eyebrow, Micrognathia, Postnatal growth retardation, ... |
ORPHA:480907 |
Acrodysostosis |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Abnormal form of the vertebra... |
ORPHA:950 |
Seckel Syndrome 1 |
|
Dental crowding, Abnormal finger flexion crease, Selective tooth agenesis, Micrognathia, High pal... |
OMIM:210600 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta... |
OMIM:259600 |
Keratoconus Posticus Circumscriptus |
|
Keratoconus, Limited elbow extension and supination, Cleft upper lip, Short neck, Hypertelorism, ... |
OMIM:244600 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Mandibular prognathia, Cone-shaped epiphyses of the 4th toe, Telecanthus, Hyperopi... |
ORPHA:397973 |
Otodental Syndrome |
|
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car... |
ORPHA:2791 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
Winchester Syndrome |
|
Corneal opacity, Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteoly... |
OMIM:277950 |
Harrod Syndrome |
|
Cataract, Arachnodactyly, Kyphosis, Dental malocclusion, Hypotelorism, Abnormal shoulder morpholo... |
ORPHA:2115 |
Aarskog-Scott Syndrome |
|
Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly of the 5th finge... |
ORPHA:915 |
Rhyns Syndrome |
|
Osteopenia, Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bone morphology, Deep... |
ORPHA:140976 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Corneal opacity, Micrognathia, Hypoplasia of the maxilla, Osteolysis involving tarsal... |
OMIM:166300 |
Wilson-Turner Syndrome |
|
Thin upper lip vermilion, Cataract, Short stature, Malar prominence, Micrognathia, Tapered finger... |
ORPHA:3459 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Thin bony cortex, Coxa valg... |
ORPHA:85184 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Short stature, Recurrent fractures, Micrognathia, Short neck, Hypertelorism, Limitation of joint ... |
ORPHA:1486 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Lumbar hyperlordosis, Short stature,... |
OMIM:602471 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Overlapping toe, Short stature, Highly arched eyebrow, Carious teeth, Thick lower lip vermilion, ... |
ORPHA:457365 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Hypoplasia of the max... |
OMIM:231070 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Micrognathia, Knee flexion contracture, Deeply set eye, Short philtrum, Wrist flexion contracture... |
OMIM:610758 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Thin upper lip vermilion, Epicanthus, Short stature, Micrognathia, Hypertelorism, Pierre-Robin se... |
OMIM:613604 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Cataract, Camptodactyly of finger, Severe short stature,... |
ORPHA:2635 |
Chromosome 20Q11-Q12 Deletion Syndrome |
|
Brachydactyly, Hypertelorism, Tarsal osteovalgus, Finger clinodactyly, Deeply set eye, Short phil... |
OMIM:614257 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Hypotelorism, I... |
ORPHA:439822 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Thin upper lip vermilion, Sandal gap, Dental crowding, Short stature, Short toe, Pier... |
OMIM:617877 |
Cleft Palate, Isolated |
|
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite |
OMIM:119540 |
Frontometaphyseal Dysplasia 1 |
|
Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur... |
OMIM:305620 |
Weismann-Netter Syndrome |
|
Severe short stature, Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowi... |
OMIM:112350 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
|
Cataract, Short stature, Dental malocclusion, Upslanted palpebral fissure, Widely spaced teeth, M... |
OMIM:616108 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Mega... |
OMIM:249420 |
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome |
|
Short stature, Tapered finger, Downturned corners of mouth, Deeply set eye, High palate, Short ph... |
ORPHA:85280 |
Auriculocondylar Syndrome 2A |
|
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... |
OMIM:614669 |
Acrootoocular Syndrome |
|
Abnormal finger flexion crease, Micrognathia, High, narrow palate, Hypotelorism, Anodontia, Short... |
ORPHA:2980 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Micrognathia, Carious teeth, Hype... |
ORPHA:93346 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Delayed eruption of teeth, Cataract, Rocker bottom foot, Kyphoscoliosis, Coxa valga, Micrognathia... |
OMIM:214150 |
Trisomy 4P |
|
Smooth philtrum, Thick eyebrow, Short stature, Camptodactyly of finger, Abnormality of the dentit... |
ORPHA:1738 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Deep philtrum, Synophrys, Growth d... |
ORPHA:505652 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Short stature, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Trismus... |
OMIM:616583 |
20Q11.2 Microdeletion Syndrome |
|
Brachydactyly, Hypertelorism, Finger clinodactyly, Deeply set eye, Short philtrum, Camptodactyly,... |
ORPHA:444051 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Osteopenia, Mandibular prognathia, Congenital hip dislocation, Micrognathia, Delayed epiphyseal o... |
OMIM:616007 |
Keipert Syndrome |
|
Broad hallux phalanx, Ptosis, Tented upper lip vermilion, Exaggerated cupid's bow, Epicanthus, Sh... |
ORPHA:2662 |
Carabelli Anomaly Of Maxillary Molar Teeth |
|
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition |
OMIM:114700 |
Faciocardiomelic Syndrome |
|
Osteopenia, Ptosis, Telecanthus, Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusio... |
OMIM:612731 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Kyphosis, Synophrys, Wide mouth, Deeply set eye,... |
ORPHA:2429 |
Melnick-Needles Syndrome |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Short stature, Co... |
ORPHA:2484 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Micrognathia, Wide mouth, Deeply set eye, Widely spaced teeth, Scoliosis, Clinodactyly |
OMIM:300934 |
Intellectual Disability, Birk-Barel Type |
|
Sacral dimple, Tented upper lip vermilion, Foot joint contracture, Highly arched eyebrow, Microgn... |
ORPHA:166108 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Dental crowding, Micrognathia, Short neck, Generalized joint laxity, Tibial bowing, D... |
ORPHA:251028 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6 |
|
Osteopenia, Hip contracture, Toe syndactyly, Short neck, Elbow flexion contracture, 2-3 toe synda... |
OMIM:616809 |
Three M Syndrome 2 |
|
Delayed eruption of teeth, Lumbar hyperlordosis, Short stature, Severe short stature, Short neck,... |
OMIM:612921 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, High palate, Premature l... |
OMIM:102500 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Knee flexion contract... |
OMIM:265000 |
Cranioectodermal Dysplasia 4 |
|
Smooth philtrum, Epicanthus, Short stature, Sagittal craniosynostosis, Hip dysplasia, Cutaneous f... |
OMIM:614378 |
Osteochondrosis Of The Metatarsal Bone |
|
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... |
ORPHA:564003 |
Progressive Hemifacial Atrophy |
|
Micrognathia, Abnormal mandible morphology, Deeply set eye, Heterochromia iridis, Ptosis |
ORPHA:1214 |
48,Xxxy Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Down-sloping shoulders, Abnormal de... |
ORPHA:96263 |
Gapo Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Keratoconus, Sparse eyelashes, Palpebral edema,... |
ORPHA:2067 |
Alazami Syndrome |
|
Sparse eyebrow, Postnatal growth retardation, Abnormality of the orbital region, Wide mouth, Slen... |
ORPHA:319671 |
Sclerosteosis 1 |
|
Mandibular prognathia, Syndactyly, Sclerotic scapulae, Hypertelorism, 2-3 finger syndactyly, Dent... |
OMIM:269500 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Short neck, Clinodactyly of the 5th finger, Short stature, Abnormal dental... |
ORPHA:96264 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Grant Syndrome |
|
Bowing of the long bones, Short stature, Micrognathia, Open bite, Joint hyperflexibility, Abnorma... |
ORPHA:2097 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Short stature, Hypertelorism, Hypoplasia of the maxilla, Carious teeth... |
ORPHA:50814 |
Fanconi Anemia, Complementation Group S |
|
Epicanthus, Macrodontia, Short stature, Proximal placement of thumb, Hypertelorism, Dental malocc... |
OMIM:617883 |
Short Syndrome |
|
Joint laxity, Enlarged epiphyses, Delayed eruption of teeth, Telecanthus, Cataract, Rieger anomal... |
OMIM:269880 |
Hamamy Syndrome |
|
Osteopenia, Micrognathia, High palate, Clinodactyly of the 5th finger, Long toe, Syndactyly, Tape... |
OMIM:611174 |
Angel-Shaped Phalango-Epiphyseal Dysplasia |
|
Delayed eruption of teeth, Short stature, Hip osteoarthritis, Joint hyperflexibility, Hip dysplas... |
ORPHA:63442 |
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Generalized hypoplasia of dental enamel, Telecanthus, Thoracic kyphoscoliosis, Severe short statu... |
OMIM:203550 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypertelorism, Hypoplasia of the max... |
ORPHA:1540 |
20P12.3 Microdeletion Syndrome |
|
Broad hallux phalanx, Epicanthus, Short stature, Hypertelorism, Hypoplasia of the maxilla, Narrow... |
ORPHA:261295 |
Chromosome Xq13 Duplication Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Medial flaring of the eyebrow, Epicanthus, Highl... |
OMIM:301069 |
Cohen Syndrome |
|
Short metacarpal, Thick eyebrow, Thoracic scoliosis, Lumbar hyperlordosis, Short stature, Tapered... |
OMIM:216550 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Short stature, Coxa valga, Pierre-Robin sequence, Advanced ossification of carpal b... |
OMIM:620269 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Joint laxity, Short stature, Micrognathia, Synophrys, 2-3 toe syndactyly, Orofacial cleft, Wide m... |
ORPHA:502434 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Hypoplasia of the maxilla, Wid... |
OMIM:620099 |
Oligodontia |
|
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... |
ORPHA:99798 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Delayed epiphyseal ossification, Metaphyseal widening... |
ORPHA:750 |
Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, Hypertelorism, 2-3 toe syndactyly, Deeply set eye, Polydactyly, Narrow mou... |
OMIM:615984 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Short stature, Tapered finger, Kyphosis, Short... |
OMIM:301900 |
Marshall Syndrome |
|
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ... |
OMIM:154780 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Mandibular prognathia, Dental malocclusion, High palate, Arthrogryposis multiplex congenita, Ptosis |
OMIM:608931 |
Eiken Syndrome |
|
Epiphyseal dysplasia, Abnormal trabecular bone morphology, Abnormal acetabulum morphology, Thin b... |
ORPHA:79106 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Joint laxity, Epiphyseal dysplasia, Metaphyseal dysplasia, Short stature, Kyphoscoliosis, Osteopo... |
OMIM:614727 |
Odontotrichoungual-Digital-Palmar Syndrome |
|
Mandibular prognathia, Natal tooth, Dental malocclusion, Short first metatarsal, Thick vermilion ... |
OMIM:601957 |
Short Stature, Dauber-Argente Type |
|
Long toe, Osteopenia, Delayed eruption of teeth, Arachnodactyly, Short stature, Decreased fibular... |
OMIM:619489 |
Oculodentodigital Dysplasia |
|
Mandibular prognathia, Micrognathia, Abnormal form of the vertebral bodies, Hypotelorism, Microco... |
ORPHA:2710 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Short stature, Narrow mouth, Abnormal form of the vertebral bodies, Reduced bone... |
ORPHA:2370 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
|
Delayed eruption of teeth, Short stature, Osteoporosis, Cone-shaped epiphysis, Platyspondyly, Sho... |
ORPHA:71267 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Micrognathia, Deep philtrum, Short philtrum, Clinodactyly of the 5th finger, Short stature, Highl... |
OMIM:615834 |
Otodental Dysplasia |
|
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... |
OMIM:166750 |
Freeman-Sheldon Syndrome |
|
Ptosis, Short stature, Camptodactyly of finger, Abnormality of the dentition, Joint stiffness, Hy... |
ORPHA:2053 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Osteoarthritis, Short ... |
OMIM:251450 |
Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Hypertelorism, Hypoplasia of the maxilla, Lacrimal duct atresia, Ulnar d... |
ORPHA:1529 |
Odontochondrodysplasia 1 |
|
Metaphyseal widening, Short phalanx of finger, Genu varum, Short metacarpal, Short stature, Osteo... |
OMIM:184260 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Ptosis, Epicanthus, Down-sloping shoulders, Carious teeth, Synophrys, Joint hyperflexibility, Sco... |
ORPHA:1390 |
Craniometadiaphyseal Dysplasia |
|
Osteopenia, Mandibular prognathia, Natal tooth, Broad long bones, Dental crowding, Short stature,... |
OMIM:269300 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... |
ORPHA:1248 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Cerebellofaciodental Syndrome |
|
Cataract, Short stature, Tapered finger, Sparse eyebrow, Short neck, Dental malocclusion, Shorten... |
OMIM:616202 |
Liang-Wang Syndrome |
|
Thin upper lip vermilion, Hypertelorism, Diastema, Synophrys, Gingival overgrowth, Downturned cor... |
OMIM:618729 |
Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Corneal opacity, Abnormal dental enamel morphology, Short stature, Coxa... |
ORPHA:582 |
Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Hypertelorism, Kyphosis, Non-midline cleft lip, Abnor... |
ORPHA:236 |
Frontonasal Dysplasia 1 |
|
Ptosis, Epicanthus, Median cleft lip, Cataract, Hypertelorism, Hypoplasia of the maxilla, Postaxi... |
OMIM:136760 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cataract, Short stature, Camptodactyly of finger, Malar prominence, Micrognathia, Kyphosis, Osteo... |
ORPHA:48431 |
Whistling Face Syndrome, Recessive Form |
|
Micrognathia, Short neck, Knee flexion contracture, High palate, Hypertelorism, Ulnar deviation o... |
OMIM:277720 |
Urban-Rogers-Meyer Syndrome |
|
Epicanthus, Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Recurrent fract... |
ORPHA:3409 |
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome |
|
Long toe, Joint laxity, Thin upper lip vermilion, Epicanthus, Hyperopic astigmatism, Micrognathia... |
ORPHA:363686 |
Short Syndrome |
|
Telecanthus, Posterior embryotoxon, Corneal opacity, Abnormal dental enamel morphology, Severe sh... |
ORPHA:3163 |
Amelogenesis Imperfecta, Type Iiia |
|
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta |
OMIM:130900 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Epicanthus, Sacral dimple, Short stature, Hypertelorism, Narrow mouth, Cleft palate, Thin vermili... |
OMIM:615502 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Abnormal form of the ... |
ORPHA:819 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High palate, Shallow o... |
OMIM:182212 |
Alazami Syndrome |
|
Severe short stature, Wide mouth, Narrow palpebral fissure, Deeply set eye, Thick vermilion borde... |
OMIM:615071 |
Lowry-Maclean Syndrome |
|
Osteopenia, Corneal opacity, Craniosynostosis, Micrognathia, Hypoplasia of the maxilla, High, nar... |
ORPHA:2409 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Rieger anomaly, Short stature, Coxa valga, Hypoplasia of the maxilla, Hypertelorism,... |
OMIM:109120 |
Harel-Yoon Syndrome |
|
Mandibular prognathia, Corneal opacity, Micrognathia, Developmental cataract, Upslanted palpebral... |
OMIM:617183 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Sandal gap, Cervical kyphosis, Rhizomelia, Micrognat... |
OMIM:108721 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia6 |
|
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta |
OMIM:617217 |
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Epicanthus, Short stature, Accessory oral frenulum, Hypertelorism, Osteolysis involvi... |
ORPHA:88630 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Calcific stippling of infantile cartilaginous skeleton, Severe short stature, Rhizomelia, Kyphosc... |
OMIM:215100 |
Amelogenesis Imperfecta, Type Ia |
|
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:104530 |
Hypophosphatasia, Childhood |
|
Short stature, Premature loss of primary teeth, Craniosynostosis, Carious teeth, Bowing of the le... |
OMIM:241510 |
Myopathy, Myofibrillar, 8 |
|
Micrognathia, Spinal rigidity, Distal joint laxity, Achilles tendon contracture, Dental malocclus... |
OMIM:617258 |
Intellectual Developmental Disorder, X-Linked 58 |
|
Dental malocclusion, Short philtrum |
OMIM:300210 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Short neck, Hypertelorism, Thick lower lip vermilion, Dent... |
OMIM:157980 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Dental crowding, Short stature, Micrognathia, Hypertelorism, Dental malocc... |
OMIM:610883 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Oligodontia, Platyspondyly, Wide... |
OMIM:601216 |
Schwartz-Jampel Syndrome |
|
Micrognathia, Short neck, Coxa vara, Microcornea, High palate, Wrist flexion contracture, Pursed ... |
ORPHA:800 |
Diastrophic Dysplasia |
|
Proximal placement of thumb, Micrognathia, Symphalangism affecting the phalanges of the hand, Abn... |
ORPHA:628 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, High palate, Widely spaced teet... |
ORPHA:192 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Sanjad-Sakati Syndrome |
|
Corneal opacity, Abnormal dental enamel morphology, Patchy osteosclerosis, Micrognathia, Abnormal... |
ORPHA:2323 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... |
OMIM:201000 |
Gorham-Stout Disease |
|
Osteopenia, Abnormality of the cervical spine, Abnormality of the temporomandibular joint, Abnorm... |
ORPHA:73 |
Rhizomelic Syndrome, Urbach Type |
|
Short stature, Rhizomelia, Micrognathia, Abnormality of the humerus, Preaxial hand polydactyly, W... |
ORPHA:3098 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Severe short stature, Short neck, Kyphosis, Flexion contracture, Genu v... |
OMIM:168400 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Epicanthus, Dental malocclusion, Upslanted palpebral fissure, Deeply se... |
OMIM:619149 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Cataract, Broad hallux, Short stature, Kyphoscoliosis, High, narrow palate, Atlantoaxial abnormal... |
ORPHA:3433 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, Deeply set eye... |
ORPHA:85279 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Cataract, Camptodactyly of finger, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Developmenta... |
OMIM:610756 |
Intellectual Developmental Disorder, Autosomal Recessive 45 |
|
Highly arched eyebrow, Hypertelorism, Synophrys, Upslanted palpebral fissure, Deeply set eye, Thi... |
OMIM:615979 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso... |
ORPHA:94068 |
Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Malar flattening, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metac... |
OMIM:118651 |
Osteoglophonic Dysplasia |
|
Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Short stature, Cleft upper lip, Cleft palate, Hypotelorism, Deeply set eye... |
OMIM:268850 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Micr... |
OMIM:615761 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Corneal opacity, Short stature, Joint stiffness, Hyperlordosis, Cleft ... |
ORPHA:577 |
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies |
|
Mandibular prognathia, Tapered finger, Hypertelorism, Small hand, Hypotelorism, Downturned corner... |
OMIM:618672 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short metacarpal, Short stature, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow e... |
OMIM:614078 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Short stature, Rhizomelia, Micrognathia, Cleft hard palate, ... |
ORPHA:166016 |
Arthrogryposis, Distal, Type 2A |
|
Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, Deeply set eye, Hig... |
OMIM:193700 |
Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Joint stiffness, Micrognathia, Hypoplasi... |
ORPHA:245 |
Nance-Horan Syndrome |
|
Diastema, Developmental cataract, Microcornea, Mulberry molar, Posterior Y-sutural cataract, Broa... |
OMIM:302350 |
Osteogenesis Imperfecta, Type Iii |
|
Recurrent fractures, Protrusio acetabuli, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Brachydactyly, Cataract, Sandal gap, Broad hallux, Conical tooth, Persistence of primary teeth, D... |
OMIM:618727 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Hypertelorism, Synophrys, Downturned corners of mouth, Wide mouth, Asti... |
OMIM:618067 |
2q37 monosomy |
|
Thin upper lip vermilion, Deeply set eye, Brachydactyly |
DECIPHER:44 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ... |
OMIM:156530 |
Lethal Recessive Chondrodysplasia |
|
Micrognathia, Generalized osteosclerosis, Macroglossia, Short long bone, Flared elbow metaphyses |
ORPHA:1423 |
Trichorhinophalangeal Syndrome, Type Iii |
|
Osteopenia, Thin upper lip vermilion, Short metacarpal, Dental crowding, Short stature, Avascular... |
OMIM:190351 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Epicanthus, Dental crowding, Short stature, Highly arched eyebrow, Persistence of primary teeth, ... |
OMIM:618342 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal ey... |
ORPHA:2095 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Synophrys, Reduced bone mineral density, Downturned corners of mouth, Genu ... |
ORPHA:2983 |
Tooth Agenesis, Selective, 9 |
|
Microdontia, Taurodontia, Selective tooth agenesis |
OMIM:617275 |
Hypochondroplasia |
|
Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Flared metaphysis, Short lo... |
OMIM:146000 |
8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Telecanthus, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormalit... |
ORPHA:178303 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,... |
OMIM:253000 |
Xq27.3Q28 Duplication Syndrome |
|
Short stature, Small hand, Short foot, Deeply set eye, Thin vermilion border, Intrauterine growth... |
ORPHA:261483 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Osteopenia, Thoracic scoliosis, Multiple joint contractures, Cataract, Selective tooth agenesis, ... |
ORPHA:2959 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the... |
OMIM:130060 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Micrognathia, Synophrys, Deeply set eye, High palate, Short philtrum, Clinodactyly of the 5th fin... |
OMIM:618443 |
Gand Syndrome |
|
Long toe, Thin upper lip vermilion, Hypertelorism, Long fingers, Wide mouth, Narrow palpebral fis... |
OMIM:615074 |
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome |
|
Thin upper lip vermilion, Everted upper lip vermilion, Micrognathia, Deep philtrum, Pierre-Robin ... |
OMIM:618381 |
Metaphyseal Dysplasia Without Hypotrichosis |
|
Joint laxity, Metaphyseal dysplasia, Short metacarpal, Short stature, Cone-shaped epiphyses of th... |
OMIM:250460 |
Tooth Agenesis, Selective, 7 |
|
Taurodontia, Agenesis of permanent teeth |
OMIM:616724 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Dentinogenesis imperfecta, Decreased ... |
OMIM:259440 |
Ackerman Syndrome |
|
Taurodontia, Broad philtrum |
OMIM:200970 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Notched primary central incisor, Brachydactyly, Short stature, Adducted thumb |
OMIM:620062 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro... |
OMIM:614008 |
Chst3-Related Skeletal Dysplasia |
|
Delayed eruption of teeth, Short metacarpal, Rhizomelia, Highly arched eyebrow, Kyphoscoliosis, S... |
ORPHA:263463 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Short stature, Recurrent fractures, Vertebra... |
OMIM:610967 |
Kabuki Syndrome 2 |
|
Micrognathia, High palate, Prominent fingertip pads, Joint laxity, Short stature, Highly arched e... |
OMIM:300867 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ... |
ORPHA:2972 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Short stature, Recurren... |
ORPHA:2050 |
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Osteopenia, Micrognathia, Long hallux, Deeply set eye, High palate, Clinodactyly, ... |
OMIM:620194 |
Osteopetrosis, Autosomal Dominant 1 |
|
Generalized osteosclerosis, Mandibular pain, Abnormal pelvic girdle bone morphology, Abnormality ... |
OMIM:607634 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Micrognathia, Short neck, Downturned corners of mouth, Short phalanx of finger, Syndactyly, Short... |
OMIM:616894 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Ptosis, Hypertelorism, Hypoplasia of the maxilla, Abnormal sacrum morphology, Abnormal form of th... |
ORPHA:93262 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Micrognathia, Short neck, Limitation of joi... |
ORPHA:2570 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, H... |
OMIM:619797 |
Alagille Syndrome |
|
Keratoconus, Hypoplasia of the ulna, Corneal dystrophy, Micrognathia, Hypertelorism, Abnormal pup... |
ORPHA:52 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f... |
OMIM:101600 |
Smith-Mccort Dysplasia 1 |
|
Short neck, Short phalanx of finger, Genu varum, Short metacarpal, Iliac crest serration, Short s... |
OMIM:607326 |
Oliver Syndrome |
|
Mandibular prognathia, Camptodactyly of finger, Short toe, Postaxial hand polydactyly, Elbow flex... |
ORPHA:2920 |
Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Abn... |
ORPHA:970 |
Weill-Marchesani Syndrome 1 |
|
Thin bony cortex, Lumbar hyperlordosis, Cataract, Short stature, Proportionate short stature, Joi... |
OMIM:277600 |
Familial Expansile Osteolysis |
|
Bowing of the long bones, Osteolysis, Pathologic fracture, Premature loss of teeth, Thin bony cor... |
OMIM:174810 |
Auriculocondylar Syndrome 1 |
|
Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h... |
OMIM:602483 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Hypertelorism, Hypoplasia of the maxill... |
OMIM:167730 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Osteopenia, Bowing of the long bones, Congenital hip dislocation, Hypertelorism, Hypotelorism, De... |
OMIM:612940 |
Proteus Syndrome |
|
Thin bony cortex, Kyphoscoliosis, Limbal dermoid, Mandibular hyperostosis, Spinal canal stenosis,... |
OMIM:176920 |
Intellectual Developmental Disorder, X-Linked 108 |
|
Thin upper lip vermilion, Deeply set eye, Long philtrum, Clinodactyly of the 5th finger, Downslan... |
OMIM:301024 |
Cri-Du-Chat Syndrome |
|
Microretrognathia, Syndactyly, Short metacarpal, Epicanthus, Cataract, Short neck, Metatarsus add... |
OMIM:123450 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Hypertelorism, Carious teeth, Postnatal growt... |
ORPHA:93324 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Micrognathia, Short neck, Downturned corners of mouth, High palate, Thoracic kyphosis, Abnormal b... |
ORPHA:163649 |
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Upslanted palpebral fissure, Deep... |
ORPHA:496790 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac... |
OMIM:253010 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Deep philtrum, Synophrys, Deeply set eye, Short philtrum, Joint contracture of the 5th finger, Pr... |
OMIM:620098 |
Basilicata-Akhtar Syndrome |
|
Short palm, Epicanthus, Tented upper lip vermilion, Telecanthus, Short neck, Short foot, Downturn... |
OMIM:301032 |
Lujan-Fryns Syndrome |
|
Dental crowding, Arachnodactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla... |
ORPHA:776 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Mandibular prognathia, Short stature, Kyphosis, Narrow palate, Short upper lip, Eve... |
ORPHA:364028 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... |
OMIM:618728 |
Flynn-Aird Syndrome |
|
Increased bone mineral density, Cataract, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteopo... |
OMIM:136300 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Microretrognathia, Short stature, Recurrent fractures, Hypertelorism, Postnatal growt... |
OMIM:616294 |
Multiple Epiphyseal Dysplasia Type 1 |
|
Brachydactyly, Abnormal acetabulum morphology, Joint stiffness, Avascular necrosis of the capital... |
ORPHA:93308 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Severe short stature, Rhizomelia, Recurrent fractures, Bowing of the legs, Multiple p... |
OMIM:301014 |
Atkin-Flaitz Syndrome |
|
Short stature, Abnormality of the dentition, Hypertelorism, Thick vermilion border, Everted lower... |
ORPHA:1193 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Micrognathia, Short neck, Kyphosis, Hip dysplasia, High palate, Scoliosis, Ar... |
OMIM:611890 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, I... |
OMIM:234100 |
Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Dental cr... |
OMIM:617201 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Short stature, Tapered finger, Hypertelorism, Kyphosis, Oligodontia, Everted lower lip vermilion,... |
ORPHA:276630 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal eyelid morphology, Short p... |
ORPHA:193 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Hypotelor... |
ORPHA:329178 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Split hand, Cleft palate, High palate... |
OMIM:246560 |
Cornelia De Lange Syndrome 2 |
|
Proximal placement of thumb, Limited elbow movement, Micrognathia, Short neck, Synophrys, Downtur... |
OMIM:300590 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Epicanthus, Hypertelorism, Taurodontia, High palate, Widely spaced teeth, Scoliosis... |
OMIM:618205 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Hypoplastic cervical vertebrae, Vertebral hypoplasi... |
ORPHA:79345 |
Stuve-Wiedemann Syndrome 1 |
|
Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee flexion contracture, Deeply set eye... |
OMIM:601559 |
Pycnodysostosis |
|
Increased bone mineral density, Short stature, Aplastic clavicle, Micrognathia, Absent frontal si... |
OMIM:265800 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Cortical sclerosis, Hyperteloris... |
OMIM:122860 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Microretrognathia, Hip contracture, Short stature, Rocker bottom foot, Short neck, Kyphosis, Achi... |
OMIM:301041 |
Acromicric Dysplasia |
|
Short metacarpal, Severe short stature, Ovoid vertebral bodies, Narrow mouth, Deep philtrum, Thic... |
OMIM:102370 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ... |
OMIM:113000 |
12Q14 Microdeletion Syndrome |
|
Short stature, Micrognathia, Hypertelorism, Osteopoikilosis, Synophrys, Downturned corners of mou... |
ORPHA:94063 |
Vitamin D-Dependent Rickets, Type 2A |
|
Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Epicanthus, Recurrent fractures, ... |
OMIM:277440 |
Kury-Isidor Syndrome |
|
Finger syndactyly, Ptosis, Tented upper lip vermilion, Sacral dimple, Rocker bottom foot, Proxima... |
OMIM:619762 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Epicanthus, Short stature, Highly arched eyebrow, Micrognathia, Hypertelorism, Bilateral ptosis, ... |
ORPHA:352490 |
Incisors, Shovel-Shaped |
|
Shovel-shaped maxillary central incisors |
OMIM:147400 |
Cerebellar-Facial-Dental Syndrome |
|
Infancy onset short-trunk short stature, Cataract, Foot joint contracture, Severe short stature, ... |
ORPHA:444072 |
Megalocornea-Intellectual Disability Syndrome |
|
Osteopenia, Micrognathia, Hypoplasia of the iris, High palate, Short philtrum, Megalocornea, Abno... |
ORPHA:2479 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Telecanthus, Highly arch... |
ORPHA:313781 |
Malocclusion Due To Protuberant Upper Front Teeth |
|
Dental malocclusion |
OMIM:154300 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Bowing of the legs, Micrognathia, Short neck, Meta... |
OMIM:255800 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Osteopenia, Epicanthus, Telecanthus, Sparse eyebrow, High, narrow palate, Thick lower lip vermili... |
OMIM:617268 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Severe short stature, Micrognathia, Open bite, Carious teeth, Kyphosis, Reduced bone mineral dens... |
ORPHA:2617 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Hypotelorism, Shallow orbits, Short palm,... |
OMIM:601812 |
Fetal Akinesia Deformation Sequence 4 |
|
Rocker bottom foot, Micrognathia, Short neck, Kyphosis, High palate, Camptodactyly, Arthrogryposi... |
OMIM:618393 |
Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Short palm, Joint... |
OMIM:305400 |
Weismann-Netter Syndrome |
|
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... |
ORPHA:3344 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Overlapping toe, Short stature, Micrognathia, Hypertelorism, Wide anterior fontanel, Fibular hypo... |
OMIM:201170 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Osteopenia, Mandibular prognathia, Short metacarpal, Brachydactyly, Hypoplastic sacrum, Rhizomeli... |
OMIM:614813 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Epicanthus, Overlapping toe, Abnormality of the dentition, Carious teeth, Thin lower lip vermilio... |
ORPHA:363444 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Dispr... |
ORPHA:40 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Cutaneous finger ... |
OMIM:101200 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Epicanthus, Sparse eyelashes, Rocker bottom foot, Short stature, Micrognathia, Tapered finger, Ca... |
OMIM:620070 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microcornea, High palate, Joint contracture of the 5th finger, Microdon... |
OMIM:164200 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Short statu... |
ORPHA:1782 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Hyp... |
ORPHA:1452 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Multiple prenatal fractures, Tibial bowing, Femoral bowing, Decreased skull ossificat... |
OMIM:610915 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i... |
ORPHA:457395 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short... |
OMIM:611717 |
Takenouchi-Kosaki Syndrome |
|
Proximal placement of thumb, Synophrys, Downturned corners of mouth, Short philtrum, Widely space... |
OMIM:616737 |
Myhre Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Ging... |
ORPHA:2588 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Synophrys, Flexion contracture, Thick lower lip ver... |
OMIM:618658 |
Albers-Schönberg Osteopetrosis |
|
Osteomyelitis, Short stature, Recurrent fractures, Abnormality of the dentition, Mandibular osteo... |
ORPHA:53 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Bowing of the long bones, Thin bony cortex, Recurrent fractures, Joint hypermobilit... |
OMIM:617952 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Short stature, Metatarsus valgus, Ap... |
ORPHA:3082 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Hyperextensibility of the finger joints, Patellar hypoplasia, Deeply set eye, High palate, Short ... |
ORPHA:3041 |
Congenital Myopathy 22A, Classic |
|
Hip contracture, Thoracic scoliosis, Dental crowding, Micrognathia, Spinal rigidity, Bilateral pt... |
OMIM:620351 |
Congenital Myopathy 17 |
|
Mandibular prognathia, Telecanthus, Tented upper lip vermilion, Overlapping toe, Tapered finger, ... |
OMIM:618975 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Hypertelorism, Hypoplasia of the maxi... |
ORPHA:2399 |
Dentinogenesis Imperfecta, Shields Type Iii |
|
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... |
OMIM:125500 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Mandibular prognathia, Recurrent fractures, Hypertelorism, Postnatal growth retardati... |
ORPHA:2324 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Micrognathia, Osteopathia striata, Craniofacial osteosclerosis, High palate, Cli... |
OMIM:300373 |
Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, High palate, Sh... |
OMIM:212720 |
Costello Syndrome |
|
Keratoconus, Epicanthus, Short stature, Abnormal dental enamel morphology, Abnormality of the den... |
ORPHA:3071 |
Osteogenesis Imperfecta, Type Xii |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Short stature, Recurrent frac... |
OMIM:613849 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Cataract, Short stature, Kyphosis, Reduced bone mineral density, Delayed ossification of carpal b... |
OMIM:618392 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav... |
ORPHA:2769 |
Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Short stature, Hy... |
ORPHA:93296 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Hyp... |
OMIM:235510 |
Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Increased bone mineral density, Sandal gap, Short hallux, Proximal plac... |
ORPHA:90650 |
Osteomesopyknosis |
|
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... |
ORPHA:2777 |
Ophthalmomandibulomelic Dysplasia |
|
Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Limitation of joint mobility,... |
ORPHA:2741 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowin... |
OMIM:126550 |
Dentin Dysplasia |
|
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology |
ORPHA:1653 |
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Osteopenia, Smooth philtrum, Thin upper lip vermilion, Epicanthus, Telecanthus, Downturned corner... |
OMIM:618590 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Microcornea, Deeply set eye, Hypoplastic i... |
OMIM:260660 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Hypotelorism, Triphalangeal thu... |
ORPHA:794 |
Anauxetic Dysplasia 1 |
|
Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Joint laxity, Lumb... |
OMIM:607095 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Congenital hip dislocation, Epicanthus, Hypertelorism, Deviation of... |
ORPHA:2412 |
Stickler Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Abnormal form of the vertebral bodies, R... |
ORPHA:828 |
Osteopetrosis, Autosomal Recessive 3 |
|
Short stature, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis |
OMIM:259730 |
Insulin-Like Growth Factor I, Resistance To |
|
Micrognathia, Synophrys, Deeply set eye, High palate, Long philtrum, Short stature, Highly arched... |
OMIM:270450 |
Dyssegmental Dysplasia, Rolland-Desbuquois Type |
|
Bowing of the long bones, Broad long bones, Severe short stature, Micrognathia, Short neck, Lens ... |
OMIM:224400 |
Christianson Syndrome |
|
Mandibular prognathia, Joint hyperflexibility, Deeply set eye, Arthrogryposis multiplex congenita... |
ORPHA:85278 |
Pseudopseudohypoparathyroidism |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Short stature, Short neck, Short metatarsa... |
OMIM:612463 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Epicanthus, Telecanthus, Micrognathia, Short neck, Wide anterior fontanel, Metaphyseal widening, ... |
OMIM:263210 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Deep philtrum, Flexion contractu... |
OMIM:619720 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal dental morphology, Short stature, Malar prominence, Micrognathia, Short neck, Hyperlordo... |
ORPHA:2522 |
Distal 17P13.1 Microdeletion Syndrome |
|
Arachnodactyly, Limited elbow movement, Generalized joint laxity, Deeply set eye, High palate, Hy... |
ORPHA:319171 |
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant |
|
Micrognathia, Dental malocclusion, Congenital bilateral ptosis, Camptodactyly, Malar flattening, ... |
OMIM:608257 |
Melorheostosis With Osteopoikilosis |
|
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... |
ORPHA:1879 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Hypoplasia of the maxilla, Anterior wedging of T12, Long fibula, Short palm, Short phalanx of fin... |
OMIM:300106 |
Pseudoachondroplasia |
|
Limited hip extension, Delayed epiphyseal ossification, Metaphyseal widening, Osteoarthritis, Fra... |
OMIM:177170 |
Forsythe-Wakeling Syndrome |
|
Growth delay, Deeply set eye, Osteoporosis, Short stature |
OMIM:613606 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Smooth philtrum, Medial flaring of the eyebrow, Arachnodactyly, Sandal gap, Dental crowding, Shor... |
OMIM:617602 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hypoplasia of the ca... |
OMIM:215150 |
Amelogenesis Imperfecta, Type Ic |
|
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... |
OMIM:204650 |
Fountain Syndrome |
|
Synophrys, Abnormal form of the vertebral bodies, Spina bifida occulta, Short stature, Hypertelor... |
ORPHA:3219 |
Rapp-Hodgkin Syndrome |
|
Syndactyly, Absent lacrimal punctum, Sparse eyelashes, Short stature, Conical tooth, Hypoplasia o... |
OMIM:129400 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Vertebral fusion, Down-sloping shoulders, Proportionate short stature, Hypertelorism,... |
OMIM:227330 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Broad hallux, Short neck, Almond-shaped palpebral fissure, Hypertelorism, Synophrys, 2-3 toe synd... |
OMIM:300860 |
3Mc Syndrome 2 |
|
Limited elbow movement, Downturned corners of mouth, High palate, Abnormal vertebral morphology, ... |
OMIM:265050 |
Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Telecanthus, Severe short stature, Increased skull ossificati... |
ORPHA:1422 |
Otofaciocervical Syndrome 2, With T-Cell Deficiency |
|
Microretrognathia, Lacrimal duct stenosis, Down-sloping shoulders, Tapered finger, Carious teeth,... |
OMIM:615560 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormality of the philtrum, Abnormality of the dentition, Hypotelorism, Upsla... |
ORPHA:276422 |
Dental Ankylosis |
|
Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel morphology, Mandibular pro... |
ORPHA:1077 |
Radio-Tartaglia Syndrome |
|
Dental crowding, Micrognathia, High, narrow palate, Synophrys, Deeply set eye, High palate, Short... |
OMIM:619312 |
Chromosome 2Q37 Deletion Syndrome |
|
Short metacarpal, Short fourth metatarsal, Short stature, Highly arched eyebrow, Short toe, Upsla... |
OMIM:600430 |
Trisomy 13 |
|
Median cleft lip, Cataract, Abnormality of the dentition, Abnormal eyelash morphology, High, narr... |
ORPHA:3378 |
Beaulieu-Boycott-Innes Syndrome |
|
Micrognathia, Carious teeth, Velopharyngeal insufficiency, Dental malocclusion, Upslanted palpebr... |
OMIM:613680 |
Bone Marrow Failure Syndrome 3 |
|
Metaphyseal dysplasia, Epicanthus, Congenital hip dislocation, Short stature, Micrognathia, Hyper... |
OMIM:617052 |
Localized Scleroderma |
|
Abnormality of the dentition, Flexion contracture, Dental malocclusion, Abnormal facial skeleton ... |
ORPHA:90289 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Everted upper lip vermilion, Short stature, Abnormality of the dentition, ... |
OMIM:182290 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, High palate, Shallow orbits, Broad metacarpals, Shor... |
OMIM:608328 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Deeply set eye, Enamel hypoplasia, Retrognathia, High palate |
OMIM:617915 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Tapered finger, Hypoplasia of the maxilla, Long fingers, Hypertelorism, Flexion contracture, 2-3 ... |
OMIM:218000 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Short stature, Highly arched eyebrow, Cleft palate, Deeply set eye, Mal... |
OMIM:611867 |
Deafness-Intellectual Disability Syndrome, Martin-Probst Type |
|
Epicanthus, Telecanthus, Cataract, Short stature, Micrognathia, Abnormality of the dentition, Thi... |
ORPHA:85321 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Bowing of the long bones, Short stature, Coxa valga, Cone-shaped epiph... |
ORPHA:166272 |
Crouzon Syndrome |
|
Hypertelorism, Hypoplasia of the maxilla, Abnormal sacrum morphology, Narrow palate, Multiple sut... |
ORPHA:207 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Long toe, Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Hip dislocati... |
ORPHA:75840 |
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities |
|
Sandal gap, Short stature, Tapered finger, Hypertelorism, Cleft lip, Narrow mouth, Small hand, Cl... |
OMIM:618089 |
6P22 Microdeletion Syndrome |
|
Finger syndactyly, Epicanthus, Short neck, Hypotelorism, Deeply set eye, Clinodactyly, Abnormal p... |
ORPHA:251046 |
Recon Progeroid Syndrome |
|
Joint laxity, Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placement o... |
OMIM:620370 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Joint laxity, Iris atrophy, Cataract, Broad hallux, Arachnodactyly, Ectopia lentis, Dental malocc... |
OMIM:601552 |
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Short neck, Hypertelorism, Dacryocystitis, Gingival overgrowth, Patellar... |
ORPHA:464288 |
Marshall Syndrome |
|
Cataract, Sparse eyelashes, Short stature, Micrognathia, Hypoplasia of the maxilla, Abnormality o... |
ORPHA:560 |
Ritscher-Schinzel Syndrome 3 |
|
Hypoplasia of the ulna, Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Postnatal ... |
OMIM:619135 |
Luo-Schoch-Yamamoto Syndrome |
|
Highly arched eyebrow, Hypertelorism, Almond-shaped palpebral fissure, Ectropion of lower eyelids... |
OMIM:619460 |
Au-Kline Syndrome |
|
Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Shallow orb... |
OMIM:616580 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Hig... |
OMIM:115150 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Micrognathia, Hypertelorism, Gingival overgrowth, Short upper lip, Deeply set eye, Astigmatism, S... |
OMIM:616875 |
Ck Syndrome |
|
Long toe, Microretrognathia, Epicanthus, Lumbar hyperlordosis, Dental crowding, Kyphoscoliosis, A... |
ORPHA:251383 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Microretrognathia, Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Hypoplasia of the... |
ORPHA:228396 |
Dentinogenesis Imperfecta |
|
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... |
ORPHA:49042 |
Phelan-Mcdermid Syndrome |
|
Thick eyebrow, Epicanthus, Palpebral edema, Sacral dimple, Micrognathia, Hypertelorism, Dental ma... |
OMIM:606232 |
Noonan Syndrome 4 |
|
Epicanthus, Short stature, Short neck, Sparse eyebrow, Bilateral ptosis, Hypertelorism, Dental ma... |
OMIM:610733 |
Hypomelanosis Of Ito |
|
Syndactyly, Epicanthus, Cataract, Hypertelorism, Kyphosis, Thick lower lip vermilion, Irregularly... |
OMIM:300337 |
Taurodontism |
|
Taurodontia |
OMIM:272700 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia1 |
|
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... |
OMIM:204700 |
Deafness-Enamel Hypoplasia-Nail Defects Syndrome |
|
Abnormal eyebrow morphology, Abnormal nasolacrimal system morphology, Abnormal dental enamel morp... |
ORPHA:3220 |
Intellectual Developmental Disorder, Autosomal Dominant 7 |
|
Hallux valgus, Thin upper lip vermilion, Short stature, Micrognathia, Thick lower lip vermilion, ... |
OMIM:614104 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Downslanted palpebral fissures, Deeply set eye, Tapered finger |
OMIM:618512 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Short stature, Hypertelorism, Postnatal growth retardation, Small hand, Deeply set eye,... |
OMIM:300845 |
Gapo Syndrome |
|
Keratoconus, Epicanthus, Sparse eyelashes, Micrognathia, Sparse eyebrow, Wide anterior fontanel, ... |
OMIM:230740 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Short neck, Metaphyseal widening, Synophrys, Short phalanx of finger, Bifid uvul... |
OMIM:615777 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Osteopenia, Joint hypermobility, Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Oste... |
OMIM:619718 |
Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Thin upper lip vermilion, Short hallux, Long fingers, Deeply set eye, Clinodactyly of the 5th fin... |
OMIM:620393 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Sclerocornea, Micrognathia, Hypoplasia of the maxilla,... |
OMIM:600920 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Epicanthus, Short stature, Abnormal dental enamel morphology, Joint st... |
ORPHA:2107 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Patchy osteosclerosis, Micrognathia, Postnatal growth retardation, Smal... |
OMIM:241410 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Delayed eruption of teeth, Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of th... |
OMIM:264700 |
Codas Syndrome |
|
Delayed eruption of teeth, Ptosis, Short metacarpal, Congenital hip dislocation, Abnormal dental ... |
ORPHA:1458 |
Nail-Patella Syndrome |
|
Back pain, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac horns, Clinodactyly ... |
OMIM:161200 |
Nablus Mask-Like Facial Syndrome |
|
Short neck, Hypoplasia of the maxilla, High palate, Short hallux, Tapered finger, Highly arched e... |
OMIM:608156 |
Caffey Disease |
|
Periosteal thickening of long tubular bones, Cortical thickening of long bone diaphyses, Proptosi... |
ORPHA:1310 |
Regional Odontodysplasia |
|
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... |
ORPHA:83450 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Emanuel Syndrome |
|
Broad jaw, Sacral dimple, Congenital hip dislocation, Dental crowding, Delayed eruption of primar... |
OMIM:609029 |
Frontorhiny |
|
Ptosis, Epicanthus, Lumbar hyperlordosis, Cataract, Camptodactyly of finger, Hypertelorism, Hypop... |
ORPHA:391474 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Deeply set eye, Peters anomaly, Downslanted palpebral fissures, ... |
OMIM:614526 |
Kniest Dysplasia |
|
Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Delayed epiphys... |
ORPHA:485 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Smooth philtrum, Broad eyebrow, Thoracic kyphoscoliosis, Broad hallux, Arachnodactyly, Hypertelor... |
ORPHA:481152 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... |
OMIM:614753 |
Craniometaphyseal Dysplasia, Autosomal Recessive |
|
Mandibular prognathia, Metaphyseal dysplasia, Telecanthus, Hypertelorism, Flared metaphysis, Dela... |
OMIM:218400 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Synophrys, Cutaneous finger syndactyly, High pa... |
OMIM:211380 |
Perlman Syndrome |
|
Epicanthus, Micrognathia, High, narrow palate, Abnormal upper lip morphology, Deeply set eye, Bro... |
ORPHA:2849 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short... |
OMIM:271630 |
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies |
|
Downslanted palpebral fissures, Deeply set eye, Short philtrum |
OMIM:300471 |
Myopathy, Centronuclear, X-Linked |
|
Arachnodactyly, Flexion contracture, Dental malocclusion, Slender toe, High palate |
OMIM:310400 |
Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Lumbar hyperlordosis, Ovoid vertebral bodies, Corneal opacity, Sh... |
ORPHA:1830 |
Chopra-Amiel-Gordon Syndrome |
|
Thin upper lip vermilion, Short stature, Joint hypermobility, Almond-shaped palpebral fissure, Cl... |
OMIM:619504 |
Shprintzen-Goldberg Syndrome |
|
Osteopenia, Bowing of the long bones, Telecanthus, Arachnodactyly, Camptodactyly of finger, Crani... |
ORPHA:2462 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Abnormal morphology of ulna, T... |
ORPHA:1307 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic... |
ORPHA:93316 |
Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Abnormal eyelid morphology, Carious teeth, Conical tooth, Hypertelorism, Ectro... |
ORPHA:1997 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Upslanted palpebra... |
OMIM:618737 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Thoracic scoliosis, Short statur... |
OMIM:613848 |
Greenberg Dysplasia |
|
Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variation in bone mi... |
OMIM:215140 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Ti... |
OMIM:223800 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micrognathia, Abnormal tibia morpholo... |
ORPHA:666 |
Kenny-Caffey Syndrome, Type 1 |
|
Proportionate short stature, Hypertelorism, Carious teeth, Small hand, Short foot, Slender long b... |
OMIM:244460 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Bicoronal synostosis, Dental crowding, Joint stiffness, Postnatal growth retardation, Pierre-Robi... |
OMIM:619184 |
8P23.1 Duplication Syndrome |
|
Toe syndactyly, Highly arched eyebrow, Hypertelorism, Deeply set eye, Thick vermilion border, Lon... |
ORPHA:251076 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Postnatal growth retardation, Hypertelorism, Metaphyseal widening, Abnormal form of... |
ORPHA:73230 |
Auriculocondylar Syndrome |
|
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... |
ORPHA:137888 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Kyphosis, Joint contracture, High palate, Scoliosis |
OMIM:611225 |
Osteoglosphonic Dysplasia |
|
Severe short stature, Rhizomelia, Craniosynostosis, Micrognathia, Hypertelorism, Abnormal form of... |
ORPHA:2645 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bulging epiphyses, Bowing of the long bones, Thin bony cortex, Rickets of the lower limbs, Delaye... |
OMIM:600785 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Thoracolumbar sco... |
OMIM:313420 |
Osteogenesis Imperfecta, Type Xiii |
|
Femoral bowing, Reduced bone mineral density, Limitation of knee mobility, Dislocated radial head... |
OMIM:614856 |
De Barsy Syndrome |
|
Osteopenia, Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Corneal opacity, C... |
ORPHA:2962 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca... |
ORPHA:1106 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Epicanthus, Short stature, Hypertelorism, Kyphosis, Small hand, Hip dislocation, Short foot, Scol... |
OMIM:300434 |
Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Short stature, Kyphosis, Limited elbow extension, Small hand, ... |
OMIM:180870 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t... |
ORPHA:2658 |
3M Syndrome |
|
Congenital hip dislocation, Hypoplastic ischia, Short neck, Increased vertebral height, Clinodact... |
ORPHA:2616 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Short neck, High... |
OMIM:309583 |
Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Synoph... |
OMIM:620369 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Synophrys, Flexion contracture, Downturn... |
ORPHA:487796 |
Three M Syndrome 1 |
|
Mandibular prognathia, Thick eyebrow, Short stature, Short neck, Hyperlordosis, Increased vertebr... |
OMIM:273750 |
Borjeson-Forssman-Lehmann Syndrome |
|
Cataract, Short stature, Tapered finger, Blepharophimosis, Short toe, Orofacial cleft, Joint hype... |
ORPHA:127 |
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Mandibular prognathia, Syndactyly, Hypertelorism, Upslanted palpebral fissure, Narrow palpebral f... |
OMIM:618087 |
Emanuel Syndrome |
|
Multiple joint contractures, Congenital hip dislocation, Dental crowding, Hooded eyelid, Microgna... |
ORPHA:96170 |
Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Cataract, Short stature, Recurrent fractures, Abnormality of the den... |
ORPHA:1775 |
Rhyns Syndrome |
|
Osteopenia, Ptosis, Radial bowing, Short stature, Osteoporosis, Deeply set eye, Short long bone, ... |
OMIM:602152 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Epicanthus, Cataract, Short stature, Kyphosis, Congenital bilateral hip dislocation |
ORPHA:85288 |
3Q27.3 Microdeletion Syndrome |
|
Mandibular prognathia, Thin upper lip vermilion, Arachnodactyly, Dental crowding, Kyphoscoliosis,... |
ORPHA:397695 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Orofacial cleft, Microdontia, Abnormal salivary gland morphology, Abnormal digit mo... |
ORPHA:2363 |
Eem Syndrome |
|
Finger syndactyly, Absent eyebrow, Abnormal dental morphology, Selective tooth agenesis, Carious ... |
ORPHA:1897 |
Andersen-Tawil Syndrome |
|
Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Short statu... |
ORPHA:37553 |
Temple-Baraitser Syndrome |
|
Tented upper lip vermilion, Triangular shaped distal phalanx of the thumb, High palate, Long hall... |
ORPHA:420561 |
Chromosome 16Q22 Deletion Syndrome |
|
Epicanthus, Broad hallux, Highly arched eyebrow, Micrognathia, Short neck, Wide anterior fontanel... |
OMIM:614541 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Epicanthus, Highly arched eyebrow, Hypertelorism, Kyp... |
OMIM:617190 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Cataract, Highly arched eyebrow, Micrognathia, Hypoplasia of the maxilla, ... |
OMIM:620157 |
Atelosteogenesis Type I |
|
Telecanthus, Short femur, Rhizomelia, Micrognathia, Hypertelorism, Abnormal ossification involvin... |
ORPHA:1190 |
Cerebrofacioarticular Syndrome |
|
Osteopenia, Syndactyly, Irregular dentition, Epicanthus, Short stature, Micrognathia, Hypoplasia ... |
ORPHA:314679 |
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Abnormal cortical bone morphology, Increased bone mineral density, Abnormal limb bone morphology,... |
ORPHA:2204 |
Loeys-Dietz Syndrome 4 |
|
Joint laxity, Flat cornea, Arachnodactyly, Protrusio acetabuli, Hypertelorism, High, narrow palat... |
OMIM:614816 |
Arterial Tortuosity Syndrome |
|
Joint laxity, Keratoconus, Arachnodactyly, Micrognathia, Hypertelorism, Flexion contracture, Asti... |
OMIM:208050 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypertelorism, Hypoplasia of t... |
OMIM:123500 |
Orofaciodigital Syndrome Type 2 |
|
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... |
ORPHA:2751 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Spastic Paraplegia 16, X-Linked |
|
Hypoplasia of the maxilla, Short distal phalanx of finger |
OMIM:300266 |
Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Recurrent fractures, Sclerocornea, Keratoglobus, Decreased corneal thic... |
OMIM:614170 |
Distal Xq28 Microduplication Syndrome |
|
Short lingual frenulum, Dental crowding, Short stature, Metatarsus adductus, Hypoplasia of the ma... |
ORPHA:293939 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Osteopenia, Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac... |
OMIM:271510 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Telecanthus, Arachnodactyly, Cataract, Hyper... |
ORPHA:377 |
Aredyld Syndrome |
|
Mandibular prognathia, Craniofacial hyperostosis, Short stature, Abnormal dental enamel morpholog... |
ORPHA:1133 |
X-Linked Intellectual Disability, Schimke Type |
|
Hip contracture, Short stature, Ankle flexion contracture, Elbow flexion contracture, Knee flexio... |
ORPHA:85285 |
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome |
|
Carious teeth, Radioulnar synostosis, Abnormal palate morphology, Abnormality of the dentition |
ORPHA:3270 |
Cockayne Syndrome B |
|
Mandibular prognathia, Severe short stature, Delayed eruption of primary teeth, Carious teeth, Ky... |
OMIM:133540 |
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies |
|
Everted upper lip vermilion, Epicanthus, Short stature, Craniosynostosis, Hypertelorism, Wide mou... |
OMIM:619056 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
|
Osteopenia, Joint laxity, Epicanthus, Micrognathia, Hyperlordosis, Synophrys, Dental malocclusion... |
ORPHA:73223 |
Amelogenesis Imperfecta, Type Iv |
|
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth |
OMIM:104510 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome |
|
Mandibular prognathia, Deeply set eye |
ORPHA:137831 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Osteopenia, Short neck, High, narrow palate, Synophrys, Prominent protruding coccyx, Deeply set e... |
OMIM:300966 |
Amelogenesis Imperfecta, Type Ih |
|
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... |
OMIM:616221 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Short neck, Upper limb peromelia, Hypoplasia of the maxilla, Synophrys, Do... |
ORPHA:1299 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Epicanthus, Macrodontia, Abnormal dental enamel morpholo... |
ORPHA:2916 |
Galloway-Mowat Syndrome 5 |
|
Mandibular prognathia, Deeply set eye, Epicanthus, Hypertelorism |
OMIM:617731 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Bowing of the legs, Hypoplastic ... |
ORPHA:1855 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Upslanted palpebral fissure, Short stature |
ORPHA:93950 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation de... |
OMIM:611209 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Entropion, Trichiasis, Micrognathia, Sparse eyebrow, Kyphosis, Deeply set eye, High palate, Short... |
OMIM:609944 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Narrow palpebral fissure, Synophrys, Broad eyebrow |
OMIM:618302 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Delayed eruption of teeth, Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subp... |
ORPHA:289157 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Postaxial polydactyly, Diastem... |
OMIM:619142 |
Arterial Tortuosity Syndrome |
|
Keratoconus, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis... |
ORPHA:3342 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Corneal opacity, Hypertelorism, Increased intervertebral space, Thoracic platyspon... |
OMIM:618961 |
Warburg-Cinotti Syndrome |
|
Epicanthus, Dental crowding, Symblepharon, Ankle flexion contracture, Elbow flexion contracture, ... |
OMIM:618175 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short stature, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Short stature, Recurr... |
OMIM:616229 |
Arthrogryposis, Distal, Type 3 |
|
Congenital hip dislocation, Micrognathia, Short neck, Knee flexion contracture, Cutaneous finger ... |
OMIM:114300 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Arachnodactyly, Craniosynostosis, Ectopia lentis, Long f... |
OMIM:616914 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Dee... |
ORPHA:508533 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Conjunctival whitish salt-like deposits, Hyperostosis, Subperiosteal bone formation, Taurodontia,... |
OMIM:211900 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Abnormal pupil morphology, G... |
ORPHA:534 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Severe short stature, Abnormal dental enamel morphology, Joint stiffness, Hype... |
ORPHA:1005 |
Schaaf-Yang Syndrome |
|
Mandibular prognathia, Thick eyebrow, Abnormality of the philtrum, Rocker bottom foot, Short stat... |
OMIM:615547 |
Acrofacial Dysostosis, Catania Type |
|
Short stature, Carious teeth, Short palm, Intrauterine growth retardation, Spina bifida occulta |
OMIM:101805 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Cataract, Short stature, Hypertelorism, Congenital ptosis, Deeply set eye, Long philtrum, Retrogn... |
ORPHA:280679 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Epicanthus, Telecanthus, Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the ... |
ORPHA:79113 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossification, Bifid uvula, Lumba... |
OMIM:183900 |
Intellectual Developmental Disorder, Autosomal Dominant 2 |
|
Prominent fingertip pads, Deeply set eye |
OMIM:614113 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of the phalang... |
OMIM:609616 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Micrognathia, Short neck, Hemivertebrae, Deeply set eye, Short philtrum, ... |
ORPHA:96121 |
Ritscher-Schinzel Syndrome 4 |
|
Short stature, Tapered finger, Hypertelorism, Hip dislocation, Narrow palate, Hypotelorism, Wide ... |
OMIM:619435 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Thin upper lip vermilion, Thick eyebrow, Short stature, Micrognathia, Hypo... |
OMIM:300534 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Kyphoscoliosis, Hip dysplasia, Macrodontia of permanent maxillary central incisor, Retrognathia, ... |
ORPHA:466722 |
Amelogenesis Imperfecta, Type Iiic |
|
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... |
OMIM:618386 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia2 |
|
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... |
OMIM:612529 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Micrognathia, Short neck, Synophrys, Hypotelorism, Downturned corners of mouth, Oligodontia, Shor... |
ORPHA:391408 |
Axenfeld-Rieger Syndrome |
|
Telecanthus, Posterior embryotoxon, Hypertelorism, Hypoplasia of the maxilla, Aplasia/Hypoplasia ... |
ORPHA:782 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Delayed eruption of teeth, Increased bone mineral density, Epicanthus, Cataract, Severe short sta... |
ORPHA:2780 |
Teebi Hypertelorism Syndrome 2 |
|
Delayed eruption of teeth, Syndactyly, Thin upper lip vermilion, Hypertelorism, Wide anterior fon... |
OMIM:619736 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Epicanthus, Short stature, Rhizomelia, Craniosynostosis, Micrognathia, Blepharophimosis, Hypotelo... |
OMIM:614114 |
Barber-Say Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Telecanthus, Ectropion, Sparse eyelashes, Micro... |
OMIM:209885 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Tented upper lip vermilion, Synophrys, Aplasia of the distal phalanx of the 5th finger, Oligodont... |
ORPHA:364577 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, High, narrow palate... |
OMIM:119600 |
Mosaic Trisomy 8 |
|
Corneal opacity, Camptodactyly of finger, Short stature, Micrognathia, Short neck, Hypertelorism,... |
ORPHA:96061 |
Nabais Sa-De Vries Syndrome, Type 1 |
|
Epicanthus, Telecanthus, Sacral dimple, Highly arched eyebrow, Synophrys, Narrow palpebral fissur... |
OMIM:618828 |
Inverted Duplicated Chromosome 15 Syndrome |
|
Epicanthus, Synophrys, 2-3 toe syndactyly, Growth delay, Deeply set eye, High palate, Short philt... |
ORPHA:3306 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Wide mouth, Deeply set eye, Cataract, Micrognathia |
OMIM:617228 |
Mucolipidosis Iii Alpha/Beta |
|
Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Short stature, Craniosynos... |
OMIM:252600 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Micrognathia, Gingival overgrowth, Deeply set eye, Astigmatism, Short philtrum, Scoliosis, Promin... |
ORPHA:480898 |
Osteogenesis Imperfecta, Type Iv |
|
Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduced bone mineral... |
OMIM:166220 |
Fibrous Dysplasia Of Bone |
|
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Patchy reduction of bone mineral... |
ORPHA:249 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Short stature, Protrusio acetabuli, Recurrent fractures, Kyphoscoliosis... |
OMIM:610968 |
Wiedemann-Steiner Syndrome |
|
Micrognathia, Synophrys, High palate, Clinodactyly of the 5th finger, Short phalanx of finger, Lo... |
OMIM:605130 |
16P11.2P12.2 Microdeletion Syndrome |
|
Microretrognathia, Epicanthus, Toe syndactyly, Short stature, Camptodactyly of finger, Proximal p... |
ORPHA:261211 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Short stature, Absent pubertal growth spurt, Hypertelorism, Kyphosis, Hip dislocation, Downturned... |
ORPHA:464282 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Thin upper lip vermilion, Hypertelorism, 2-3 toe syndactyly, Downturned corners of mouth, Lobulat... |
OMIM:613443 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Micrognathia, Postnatal growth retardation, Small hand, Short foot, High palate, Short philtrum, ... |
ORPHA:254531 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Short stature, Micrognathia, Hypoplasia of the maxilla, Upper eyelid coloboma, Cleft ... |
OMIM:616462 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, High palate, Widely spaced teeth,... |
OMIM:303600 |
Insulin-Like Growth Factor I Deficiency |
|
Osteopenia, Short stature, Micrognathia, Postnatal growth retardation, Clinodactyly of the 5th fi... |
OMIM:608747 |
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome |
|
Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Thick upper lip... |
ORPHA:163654 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Epicanthus, Sandal gap, Abnormal dental enamel morphology, Abnormal eyelid morphology, Hypertelor... |
ORPHA:1812 |
Proximal 16P11.2 Microduplication Syndrome |
|
Thin upper lip vermilion, Sparse eyelashes, Arachnodactyly, Short stature, Hypertelorism, Sparse ... |
ORPHA:370079 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Micrognathia, Hypertelorism, Deeply set eye, Thin vermilion border, Short philtrum, Intrauterine ... |
ORPHA:261304 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra... |
OMIM:224300 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Short stature, Kyphosis, Hip dysplasia, Tongue fasciculations, Narrow mouth |
OMIM:620007 |
Trichorhinophalangeal Syndrome Type 1 |
|
Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Short stature, Micrognathia, Avascul... |
ORPHA:77258 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Short stature, Kyphoscoliosis, Abnormality of the dentition, Synophrys, 2-3 toe syndactyly, Deepl... |
ORPHA:391307 |
Myofibrillar Myopathy 10 |
|
Mandibular prognathia, Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture... |
OMIM:619040 |
Meier-Gorlin Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Flat glenoid fossa, Flexion contracture, Hemivertebrae, ... |
OMIM:224690 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, Eyelid coloboma, High palate, Abnormality ... |
ORPHA:861 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Bowing of the long bones, Severe short stature, Micrognathia, Hypert... |
OMIM:156400 |
Roifman Syndrome |
|
Hip contracture, Epiphyseal dysplasia, Thin upper lip vermilion, Biconvex vertebral bodies, Short... |
ORPHA:353298 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Flexion contractur... |
OMIM:180849 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Deeply set eye, Short philtrum, Hyp... |
OMIM:139210 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Micrognathia, Tapered finger, Sparse eyebrow, Hypertelorism, Bilateral cleft lip and palate, Deep... |
OMIM:618829 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Mandibular prognathia, Delayed eruption of teeth, Broad hallux, Dental crowding, S... |
OMIM:614188 |
Wieacker-Wolff Syndrome |
|
Ptosis, Short stature, Proximal placement of thumb, Micrognathia, Short neck, Hyperlordosis, Kyph... |
OMIM:314580 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Short stature, Coxa valga, Carious teeth, Genu valgum, Hypoplasia of teeth, Hypophosphatemic rick... |
OMIM:613312 |
Spondylospinal Thoracic Dysostosis |
|
Hypoplasia of the maxilla, Arthrogryposis multiplex congenita, Multiple pterygia, Micrognathia |
OMIM:601809 |
Intellectual Developmental Disorder, X-Linked 30 |
|
Thin upper lip vermilion, Short stature, Upslanted palpebral fissure, Deeply set eye, High palate... |
OMIM:300558 |
W Syndrome |
|
Hypoplasia of the ulna, Telecanthus, Radial bowing, Broad uvula, Hypertelorism, Metatarsus adduct... |
ORPHA:2804 |
Apert Syndrome |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye... |
ORPHA:87 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Short stature, Cleft upper lip,... |
OMIM:612530 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, High palate, Scoliosis |
OMIM:300676 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Short stature, Carious teeth, Kyphosis, Joint contractur... |
ORPHA:1883 |
Nizon-Isidor Syndrome |
|
Unilateral ptosis, Thin upper lip vermilion, Hypertelorism, Sparse eyebrow, Long fingers, High, n... |
OMIM:618872 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Delayed eruption of teeth, Macrodontia, Abnormal size of the palpebral fissures, High, narrow pal... |
ORPHA:3214 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Reduced bone mineral density, High palate, Abnormal bone os... |
ORPHA:93315 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat... |
OMIM:271700 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Small abnormally for... |
ORPHA:140 |
Cockayne Syndrome A |
|
Mandibular prognathia, Hip contracture, Cataract, Short stature, Delayed eruption of primary teet... |
OMIM:216400 |
Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Sparse eyelashes, Short stature, Micrognathia, Abnormal eyelid morphology, Hig... |
ORPHA:1787 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Ankle flexion ... |
ORPHA:536516 |
Meier-Gorlin Syndrome 4 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Patellar aplasia, Thick lower lip vermili... |
OMIM:613804 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Hallux valgus, Congenital hip dislocation, Limited elbow movement, Kyphoscoliosis, Kyphosis, Syno... |
OMIM:300280 |
Acrocraniofacial Dysostosis |
|
Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance... |
ORPHA:949 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor... |
OMIM:616723 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Mandibular prognathia, Hypertelorism, Kyphosis, Synophrys, Cleft palate, Short philtrum, Scoliosis |
ORPHA:85317 |
Microcephaly-Capillary Malformation Syndrome |
|
Ptosis, Short stature, Hypertelorism, Hypoplasia of the maxilla, Cleft palate, Clinodactyly, Shor... |
OMIM:614261 |
Rubinstein-Taybi Syndrome |
|
Micrognathia, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Broad hallux phalan... |
ORPHA:783 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Recurrent fractures, Craniosynostosis, Abno... |
ORPHA:2314 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Shal... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, High, narrow palate, Downturned corners of mouth, Vertebral segmentation defect, Shal... |
ORPHA:352665 |
7Q31 Microdeletion Syndrome |
|
Epicanthus, Telecanthus, Hypertelorism, Hypoplasia of the maxilla, Postnatal growth retardation, ... |
ORPHA:251061 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Short neck, Syn... |
OMIM:213980 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Highly arched eyebrow, Tapered finger, Hypoplasia of the maxilla, Short neck, Synoph... |
OMIM:609460 |
Mccune-Albright Syndrome |
|
Recurrent fractures, Osteomalacia, Fibrous dysplasia of the bones, Dental malocclusion, Abnormal ... |
ORPHA:562 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Synophrys, Microcornea, Deeply set eye, Short philtrum, Joint contracture of the 5th ... |
ORPHA:363611 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Juvenile catarac... |
ORPHA:2909 |
Pelviscapular Dysplasia |
|
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Short neck, Hypopla... |
ORPHA:93333 |
Seckel Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Craniosynostosis, Micrognathia, Short stature, Con... |
ORPHA:808 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Epicanthus, Abnormal intervertebral disk morphology, Short stature, Hypertelorism, Carious teeth,... |
ORPHA:2701 |
Meier-Gorlin Syndrome 5 |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Irregular femoral epiphysis, Patellar apl... |
OMIM:613805 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
|
Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosis, Postnatal growth r... |
OMIM:313400 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Cleft upper... |
OMIM:106260 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Delayed eruption of teeth, Short stature, Micrognathia, Postnatal growth retardation, Osteoporosi... |
ORPHA:73272 |
Joubert Syndrome 37 |
|
Lumbar hyperlordosis, Short stature, Postaxial polydactyly, Hypertelorism, Deeply set eye, High p... |
OMIM:619185 |
Amelogenesis Imperfecta, Type Ie |
|
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... |
OMIM:301200 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Generalized joint laxity, Abnorm... |
ORPHA:93360 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Prominent interphalangeal joints, Downturned corners of m... |
OMIM:618371 |
Sulfite Oxidase Deficiency, Isolated |
|
Delayed eruption of teeth, Deeply set eye, Ectopia lentis |
OMIM:272300 |
Qazi-Markouizos Syndrome |
|
Tapered finger, Hypertelorism, High, narrow palate, Hypoplasia of teeth, Delayed ossification of ... |
ORPHA:3010 |
Houge-Janssens Syndrome 1 |
|
Congenital hip dislocation, Hypertelorism, Deeply set eye, Scoliosis, Intrauterine growth retarda... |
OMIM:616355 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, S... |
ORPHA:289176 |
Bent Bone Dysplasia Syndrome 1 |
|
Bent long bone, Natal tooth, Micrognathia, Hypertelorism, Hypoplastic pubic bone, Gingival overgr... |
OMIM:614592 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 14 |
|
Deeply set eye, Epicanthus, Short stature |
OMIM:619058 |
Marden-Walker Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Congenital contracture, High palate, Arachnodactyl... |
OMIM:248700 |
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Hypert... |
ORPHA:2256 |
Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Short stature, Craniosynostosis, Micrognathia, Carious teeth, Highly arc... |
ORPHA:3132 |
Achondrogenesis, Type Ii |
|
Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of... |
OMIM:200610 |
Kagami-Ogata Syndrome |
|
Kyphoscoliosis, Micrognathia, Hypoplasia of the maxilla, Long fingers, Coxa valga, Flexion contra... |
OMIM:608149 |
Developmental And Epileptic Encephalopathy 64 |
|
Thin upper lip vermilion, Epicanthus, Thick eyebrow, Highly arched eyebrow, Micrognathia, Sparse ... |
OMIM:618004 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Osteopenia, Cataract, Hypertelorism, Developmental glaucoma, Flexion contracture, Hip dislocation... |
OMIM:614438 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Osteopenia, Joint laxity, Epicanthus, Congenital hip dislocation, Arachnodactyly, Protrusio aceta... |
OMIM:225400 |
Bainbridge-Ropers Syndrome |
|
Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th... |
OMIM:615485 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Laterally extended eyebrow, Short 2nd finger, Sandal gap, Broad hallux,... |
OMIM:600987 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Broad toe, Epicanthus, Tented upper lip vermilion, Exaggerated cupid's bow, Highly arched eyebrow... |
OMIM:616900 |
Prader-Willi Syndrome Due To Translocation |
|
Micrognathia, Short neck, Hypotelorism, Downturned corners of mouth, Deeply set eye, High palate,... |
ORPHA:177907 |
Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Camptodactyly of finger, Oral mucosal blisters, Carious teeth, Hypodontia, Enamel hypoplasia |
OMIM:226650 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Micrognathia, Kyphosis, High palate, Scoliosis, Long philtrum, Distichiasis, Delayed puberty |
ORPHA:2598 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndacty... |
ORPHA:97360 |
Meier-Gorlin Syndrome 3 |
|
Microretrognathia, Absent sternal ossification, Short stature, Aplasia/Hypoplasia of the patella,... |
OMIM:613803 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Delayed eruption of teeth, Irregular dentition, Epicanthus, Tented upper lip vermilion, Overlappi... |
OMIM:619148 |
5Q14.3 Microdeletion Syndrome |
|
Toe syndactyly, Upslanted palpebral fissure, Deeply set eye, Short philtrum, Open mouth, Thick ey... |
ORPHA:228384 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Osteoarthritis, En... |
OMIM:307800 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Micrognathia, Short neck, Abnormal pupil ... |
ORPHA:233 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Telecanthus, Hypertelorism, Hypoplasia of the maxilla, Microcornea, Everte... |
OMIM:601499 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Patellar hypoplasia, High palate, Microdontia, Juvenile cataract, Short phalanx of fi... |
ORPHA:221016 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smooth tongue, S... |
ORPHA:3206 |
Flynn-Aird Syndrome |
|
Cataract, Joint stiffness, Carious teeth, Kyphosis, Bone cyst, Scoliosis |
ORPHA:2047 |
Ruvalcaba Syndrome |
|
Ptosis, Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Kyphosis, ... |
ORPHA:3121 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Short palm, Kyphoscoliosis, Tapered finger, Micrognathia, Narrow mouth, Carious teeth, Trismus, E... |
OMIM:272430 |
Trisomy 20P |
|
Micrognathia, Short neck, Abnormal form of the vertebral bodies, Reduced bone mineral density, Do... |
ORPHA:261318 |
Bartsocas-Papas Syndrome 1 |
|
Micrognathia, Hypoplasia of the maxilla, Cicatricial lagophthalmos, Short neck, Flexion contractu... |
OMIM:263650 |
Mandibulofacial Dysostosis With Alopecia |
|
Dental crowding, Sparse eyelashes, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of... |
OMIM:616367 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Osteopathia str... |
ORPHA:93357 |
Peters-Plus Syndrome |
|
Short lingual frenulum, Proximal placement of thumb, Limited elbow movement, Micrognathia, Hypopl... |
OMIM:261540 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Thin upper lip vermilion, Epicanthus, Hypertelorism, Cleft palate, Narrow palpebral fissure, Deep... |
OMIM:619493 |
Craniolenticulosutural Dysplasia |
|
Osteopenia, High palate, Bifid uvula, Joint laxity, Short stature, Hypertelorism, Wide anterior f... |
OMIM:607812 |
Sjögren-Larsson Syndrome |
|
Short stature, Abnormal dental enamel morphology, Joint stiffness, Kyphosis, Corneal erosion, Sco... |
ORPHA:816 |
15Q24 Microdeletion Syndrome |
|
Proximal placement of thumb, Joint laxity, Short stature, Hypertelorism, Scoliosis, Narrow mouth,... |
ORPHA:94065 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Telecanthus, Broad hallux, Tapered finger, Micrognathia, Short thumb, Short neck, Cervical spinal... |
OMIM:620224 |
Ohdo Syndrome |
|
Joint laxity, Ptosis, Epicanthus, Short stature, Micrognathia, Sparse eyebrow, Blepharophimosis, ... |
OMIM:249620 |
Fibrochondrogenesis 2 |
|
Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl... |
OMIM:614524 |
Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Conical primary incisor, Blep... |
OMIM:602400 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Arachnodactyly, Abnormality of the dentition, Joint stiffness, Kyphosis, Scoliosis |
ORPHA:1548 |
Osteopetrosis, Autosomal Recessive 2 |
|
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul... |
OMIM:259710 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Micrognathia, Synophrys, Downturned corners of mouth, High palate, Short stature, Highly arched e... |
OMIM:613792 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Bowed humerus, Recurrent fractures, Kyphoscoliosis, Short stature, Dentinogenesis i... |
OMIM:616507 |
Amyotrophy, Hereditary Neuralgic |
|
Epicanthus, Short stature, Cleft palate, Hypotelorism, Upslanted palpebral fissure, Deeply set ey... |
OMIM:162100 |
X-Linked Hypophosphatemia |
|
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Reduced bone... |
ORPHA:89936 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Bilateral ptosis, Deep philtrum, Downturned corners of mouth, Deeply set eye, Downslanted palpebr... |
OMIM:618859 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Abnormality of the dentition, Short neck, Kyphosis, Synophrys, Hypertelorism, Sma... |
ORPHA:238750 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Patellar hypoplasia, Microdontia, Juvenile cataract, Short phalanx of finger, Genu va... |
ORPHA:221008 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Limited hip extension, Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endpla... |
OMIM:143095 |
Orofacial Cleft 15 |
|
Agenesis of lateral incisor, Bilateral cleft palate, Epicanthus, Sparse eyelashes, Bilateral clef... |
OMIM:616788 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Arachnodactyly, ... |
OMIM:309520 |
Al-Raqad Syndrome |
|
Joint laxity, Thin upper lip vermilion, Sandal gap, Deeply set eye, Narrow mouth, Brachydactyly |
OMIM:616459 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Epicanthus, Short stature, Proximal placement of thumb, Micrognathia, Taper... |
ORPHA:251071 |
2Q31.1 Microdeletion Syndrome |
|
Micrognathia, Short neck, Abnormal tibia morphology, Deep philtrum, Synophrys, Downturned corners... |
ORPHA:251014 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Joint stiffness, Deviation of finger, Deeply set eye, Congenital finger flexion c... |
ORPHA:1154 |
Ehlers-Danlos Syndrome, Dermatosparaxis Type |
|
Osteopenia, Joint laxity, Epicanthus, Telecanthus, Short stature, Frontal open bite, Micrognathia... |
OMIM:225410 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
Glycogen Storage Disease Iii |
|
Thin upper lip vermilion, Short stature, Deeply set eye, Thin vermilion border, Malar flattening |
OMIM:232400 |
Oculofaciocardiodental Syndrome |
|
Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Highly arch... |
ORPHA:2712 |
19P13.3 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Kyphoscoliosis, Micrognathia, Long fingers, Hip dislocation, Osteoporosi... |
ORPHA:447980 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Thin upper lip vermilion, Epicanthus, Overlapping toe, High, narrow palate, Cleft palate, Deeply ... |
OMIM:618494 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Radial deviation of the 3rd finger, Conical inciso... |
OMIM:149730 |
Bruck Syndrome |
|
Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor... |
ORPHA:2771 |
Congenital Disorder Of Glycosylation, Type Iia |
|
Osteopenia, Mandibular prognathia, Proximal placement of thumb, Short neck, Short stature, Thorac... |
OMIM:212066 |
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Thin upper lip vermilion, Short stature, Corneal dystrophy, Upslanted palpebral fissure, Deeply s... |
OMIM:617763 |
Cenani-Lenz Syndrome |
|
High, narrow palate, Abnormal form of the vertebral bodies, Foot oligodactyly, Short philtrum, Sy... |
ORPHA:3258 |
Malan Overgrowth Syndrome |
|
Slender long bone, Deeply set eye, High palate, Scoliosis, Narrow mouth, Downslanted palpebral fi... |
ORPHA:420179 |
Tbck-Related Intellectual Disability Syndrome |
|
Mandibular prognathia, Broad toe, Epicanthus, Tented upper lip vermilion, Corneal opacity, Short ... |
ORPHA:488632 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Short stature, Micrognathia, Carious teeth, Supernumerary tooth, Limitation of joint mobility, Hy... |
ORPHA:3145 |
Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Orofacial cleft, Microdontia, Finge... |
ORPHA:1896 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i... |
OMIM:269250 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Tapered finger, Flat capital femoral epiphysis, Moderately short stature, Flexion con... |
ORPHA:157965 |
Camurati-Engelmann Disease |
|
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Genu ... |
OMIM:131300 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Micrognathia, Tapered finger, Narrow mouth, Synophrys, Short neck, Hypertelorism, Narrow palate, ... |
OMIM:620250 |
Cherubism |
|
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Lower e... |
OMIM:118400 |
Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Carious teeth, Conical incisor, Enamel hypoplasia, Sparse lateral eyebrow |
OMIM:614564 |
Joubert Syndrome 14 |
|
Epicanthus, Tented upper lip vermilion, Postaxial polydactyly, Highly arched eyebrow, Hypertelori... |
OMIM:614424 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Deeply set eye, Short palm, Clinodactyly of the 5th finger, Arachnodactyly, ... |
ORPHA:261330 |
Microphthalmia With Limb Anomalies |
|
2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foo... |
OMIM:206920 |
Desanto-Shinawi Syndrome |
|
Thin upper lip vermilion, Short neck, Hypertelorism, Synophrys, Downturned corners of mouth, Deep... |
OMIM:616708 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v... |
ORPHA:93352 |
Dentin Dysplasia With Sclerotic Bones |
|
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition |
OMIM:125440 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... |
OMIM:210720 |
3Mc Syndrome |
|
Ptosis, Telecanthus, Craniosynostosis, Highly arched eyebrow, Blepharophimosis, Hyperlordosis, Po... |
ORPHA:293843 |
Autosomal Recessive Primary Microcephaly |
|
Thin upper lip vermilion, Short stature, Upslanted palpebral fissure, Growth delay, Abnormal cort... |
ORPHA:2512 |
Stickler Syndrome, Type I |
|
Cataract, Arachnodactyly, Joint stiffness, Micrognathia, Kyphosis, Irregular femoral epiphysis, O... |
OMIM:108300 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Bicoronal synostosis, Everted upper lip vermilion, Sandal gap, Rocker bottom foot,... |
OMIM:619951 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Finger syndactyly, Cataract, Abnormal dental morphology, Camptodactyly... |
ORPHA:568 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Micrognathia, Synophrys, Oligodontia, High palate, Short philtrum, Clinodactyly ... |
OMIM:617061 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Dental crowding, Synophrys, Deeply set eye, Cutaneous finger syndactyly, High palate, Lumbar hype... |
OMIM:616078 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Broad long bones, Severe short stature, Bowing of the legs, Hypoplastic ilia, Micrognathia, Short... |
ORPHA:1865 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Telecanthus, Postaxial polydactyly, Short stature, C... |
OMIM:617102 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Bethlem Myopathy 2 |
|
Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Scoliosis |
OMIM:616471 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Deeply set eye, Thin vermilion bor... |
ORPHA:544254 |
Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... |
OMIM:212780 |
Saethre-Chotzen Syndrome |
|
Hypoplasia of the maxilla, Partial duplication of the distal phalanx of the 3rd finger, Shallow o... |
OMIM:101400 |
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion |
|
Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Short foot, Downturned corner... |
ORPHA:254525 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,... |
OMIM:271640 |
Amelogenesis Imperfecta, Type Ij |
|
Carious teeth, Widely spaced teeth, Increased overbite, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:617297 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Joint laxity, Wide mouth, Deeply set eye, Scoliosis, Thin eyebrow, Intrauterine growth retardatio... |
OMIM:617635 |
Ellis Van Creveld Syndrome |
|
Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality of the dentition, Capitat... |
ORPHA:289 |
Williams-Beuren Region Duplication Syndrome |
|
Short stature, Micrognathia, Diastema, Deeply set eye, Long eyelashes, High palate, Short philtru... |
OMIM:609757 |
Marshall-Smith Syndrome |
|
Bowing of the long bones, Craniosynostosis, Protruding tongue, Hypertelorism, Gingival overgrowth... |
ORPHA:561 |
Saul-Wilson Syndrome |
|
Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Short stature... |
OMIM:618150 |
Crisponi Syndrome |
|
Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitation of joint mobilit... |
ORPHA:1545 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Epicanthus, Prominence of the premaxilla, Short stature, Wide anterior fontanel, Growth delay, Ab... |
OMIM:614886 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... |
OMIM:166600 |
Progressive Pseudorheumatoid Dysplasia |
|
Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi... |
OMIM:208230 |
Temtamy Syndrome |
|
Dental crowding, Highly arched eyebrow, Micrognathia, Lens luxation, Ectopia lentis, Hyperteloris... |
OMIM:218340 |
Paganini-Miozzo Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Deeply set eye, Thin vermilion border, Malar ... |
OMIM:301025 |
Joubert Syndrome 18 |
|
Joint laxity, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Kyphoscoliosis, Cl... |
OMIM:614815 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios... |
OMIM:241310 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
|
Smooth philtrum, Dental crowding, Micrognathia, Long fingers, Upslanted palpebral fissure, Deeply... |
OMIM:618343 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Abnormality of the dentition, Abnormality of the gingiva, Painless fractures due to injury, Deepl... |
ORPHA:64752 |
17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Synophrys, Cleft palate, Deeply set eye, Abnormal vertebral mo... |
ORPHA:261272 |
Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, T... |
ORPHA:583 |
Subaortic Stenosis-Short Stature Syndrome |
|
Epicanthus, Short stature, Micrognathia, Short neck, Kyphosis, Scoliosis, Microdontia, Synostosis... |
ORPHA:3191 |
Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
Marbach-Rustad Progeroid Syndrome |
|
Femur fracture, Short stature, Delayed eruption of primary teeth, Micrognathia, Reduced bone mine... |
OMIM:619322 |
Pitt-Hopkins Syndrome |
|
Short fourth metatarsal, Short neck, Deep philtrum, Deeply set eye, Short philtrum, Widely spaced... |
OMIM:610954 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Absent eyebrow, Abnormal dental morphology, Tarsal synostosis, Aplastic clavicle, Micrognathia, A... |
ORPHA:85199 |
Brachydactyly, Type E2 |
|
Delayed eruption of teeth, Short metacarpal, Short stature, Short metatarsal, Oligodontia, Brachy... |
OMIM:613382 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Rhizomelia, Femoral bowing, Platyspondyly, Short 5th metacarpal, Thoracic kyphosis, Short 4th met... |
OMIM:619638 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Micrognathia, Epicanthus inversus, Flexion contracture, Hypotelorism, Deeply set eye, Oligodontia... |
OMIM:309590 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Joint laxity, Synophrys, Hip dislocation, Gingival overgrowth, Growth delay, Deeply set eye, Long... |
OMIM:619428 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Dental crowding, Synophrys, Hypotelorism, Downturned corners of mouth, Deeply ... |
OMIM:301044 |
Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Epicanthus, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal growth retardation... |
ORPHA:3369 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Microcornea, High palate, Short ... |
OMIM:268400 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Short stature, Tracheomalacia, Highly arched... |
ORPHA:1001 |
Pitt-Hopkins Syndrome |
|
Tapered finger, Short neck, Postnatal growth retardation, Broad fingertip, Small hand, Short meta... |
ORPHA:2896 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Downturned corners of mo... |
ORPHA:955 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Iliac crest serration, Short stature, Short neck, Wide distal femoral metaphysis, Postnatal growt... |
OMIM:613320 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Cataract, Abnorm... |
OMIM:612394 |
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment |
|
Thin upper lip vermilion, Sacral dimple, Short stature, Deeply set eye, High palate, Clinodactyly... |
OMIM:618480 |
Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Craniofacial osteosclerosis, Abnormal femur morphology, Cortical thick... |
ORPHA:1328 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Abnormality of dental color, Corneal opacity, Recurrent fractures, Kyphoscoliosis, Sh... |
OMIM:163200 |
Carpenter Syndrome 2 |
|
Short neck, High, narrow palate, Ectropion of lower eyelids, Preaxial polydactyly, Coxa vara, Kne... |
OMIM:614976 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Telecanthus, Abnormality of pri... |
ORPHA:438216 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Short stature |
ORPHA:93945 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Ovoid vertebral bodies, Bowing of... |
OMIM:608728 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Epicanthus, Short stature, Down-sloping shoulders, Kyphoscoliosis, Micrognathia, Hyperlordosis, I... |
OMIM:616817 |
Chromosome Xq27.3-Q28 Duplication Syndrome |
|
Short stature, Small hand, Short foot, Deeply set eye, Thin vermilion border, Intrauterine growth... |
OMIM:300869 |
Martin-Probst Syndrome |
|
Epicanthus, Telecanthus, Short stature, Micrognathia, Hypertelorism, Thick lower lip vermilion, D... |
OMIM:300519 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Long toe, Thin upper lip vermilion, Overlapping toe, Exaggerated cupid's bow, Highly arched eyebr... |
OMIM:618316 |
Cog1-Cdg |
|
Osteopenia, Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosi... |
ORPHA:263508 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Oligodontia, Fused teeth, Lateral... |
OMIM:300166 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Short ... |
OMIM:613026 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Abnormality of the palpebral fissures, High palate, Sc... |
ORPHA:178148 |
Chromosome 16P13.3 Duplication Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Micrognathia, Short neck, Tracheobroncho... |
OMIM:613458 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Congenital hip dislocation, Femur fracture, Multiple joint contractures, Micrognat... |
OMIM:618291 |
Distal Duplication 18Q |
|
Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Micrognathia, Carious teeth,... |
ORPHA:1716 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Sacral dimple, Tapered toe, Sparse eyelashes, Tapered finger, Absent eyelashes, S... |
ORPHA:544488 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... |
OMIM:184100 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Pilonidal sinus, Short stature, Joint stiffness, Short ... |
OMIM:252940 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:600081 |
Pseudohypoparathyroidism, Type Ia |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Short stature, Short neck, Short toe, Shor... |
OMIM:103580 |
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Thin upper lip vermilion, Epicanthus, Tented upper lip vermilion, Sandal gap, Tapered finger, Dow... |
OMIM:618430 |
Richieri Costa-Da Silva Syndrome |
|
Short stature, Kyphoscoliosis, Abnormality of the dentition, Metatarsus adductus, Short neck, Lim... |
ORPHA:3101 |
Orofaciodigital Syndrome Iii |
|
Hypertelorism, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Postaxi... |
OMIM:258850 |
Fgfr2-Related Bent Bone Dysplasia |
|
Osteopenia, Natal tooth, Megalocornea, Hypoplastic ischia, Bowing of the legs, Micrognathia, Hype... |
ORPHA:313855 |
Aneurysm-Osteoarthritis Syndrome |
|
Joint laxity, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptodactyly of fi... |
ORPHA:284984 |
Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Epicanthus, Sacral dimple, Micrognathia, Short neck, Long fingers, Postnatal growth ret... |
OMIM:615668 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Thin upper lip vermilion, Highly arched eyebrow, Kyphosis, Congenital bilateral ptosis, Congenita... |
OMIM:609384 |
Ear-Patella-Short Stature Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif... |
ORPHA:2554 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Mandibular prognathia, Sandal gap, Short stature, Kyphosis, Thick lower lip vermili... |
OMIM:300354 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Femur fra... |
OMIM:259700 |
Hypophosphatasia, Adult |
|
Premature loss of permanent teeth, Recurrent fractures, Osteomalacia, Premature loss of primary t... |
OMIM:146300 |
Mosaic Variegated Aneuploidy Syndrome 3 |
|
Short stature, Cleft palate, Growth delay, Deeply set eye, Arthrogryposis multiplex congenita |
OMIM:617598 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Exp... |
OMIM:182250 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Micrognathia, Metaphyseal widening, Megalocornea, Progressive alveolar ridge hypertro... |
OMIM:252500 |
Acrocephalopolydactyly |
|
Epicanthus, Hypertelorism, Short neck, Short long bone, Brachydactyly |
ORPHA:221054 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocorne... |
OMIM:228520 |
Distal Duplication 5Q |
|
Hypoplasia of the ulna, Epicanthus, Short stature, Craniosynostosis, Absent thumb, Micrognathia, ... |
ORPHA:96097 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Micrognathia, Joint sti... |
ORPHA:2062 |
19P13.13 Microdeletion Syndrome |
|
Thin upper lip vermilion, Epicanthus, Sandal gap, Hypertelorism, Long fingers, Macroglossia, Deep... |
ORPHA:357001 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Hypotelorism, Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomati... |
ORPHA:2215 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Deeply set eye, Short philtrum, Conjunctiviti... |
OMIM:616268 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Postaxial polydactyly, Micrognathia, Highly arched eyebrow, Bilateral p... |
ORPHA:404440 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Short stature, Persistence of primary teeth, ... |
ORPHA:93325 |
Lateral Meningocele Syndrome |
|
Craniofacial hyperostosis, Epicanthus, Dental crowding, Micrognathia, Short neck, High, narrow pa... |
ORPHA:2789 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Mandibular prognathia, Hypertelorism, Kyphosis, Synophrys, Scoliosis |
OMIM:300861 |
Koolen-De Vries Syndrome |
|
High, narrow palate, Vertebral segmentation defect, Microdontia, Vertebral fusion, Arachnodactyly... |
ORPHA:96169 |
Blomstrand Lethal Chondrodysplasia |
|
Natal tooth, Short metacarpal, Bowing of the long bones, Increased bone mineral density, Telecant... |
ORPHA:50945 |
Neurodevelopmental Disorder With Absent Language And Variable Seizures |
|
Tapered finger, Short 3rd toe, Upslanted palpebral fissure, Joint hyperflexibility, Deeply set ey... |
OMIM:618707 |
Cockayne Syndrome |
|
Deeply set eye, Congenital contracture, Lentiglobus, Abnormal dental morphology, Agenesis of perm... |
ORPHA:191 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Epicanthus, Tented upper lip vermilion, Sclerotic vertebral body, Kyphosis, Increased skull ossif... |
OMIM:618476 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Long toe, Osteopenia, Epicanthus, Telecanthus, Arachnodactyly, Sparse eyelashes, Kyphoscoliosis, ... |
ORPHA:75496 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Epicanthus, Abnormal dental enamel morphology, Blepharophimosis, Abnormal hip bone morphology, Cl... |
ORPHA:3236 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Short stature, Recurrent fractures, Micrognathia, Vertebral compression fracture, Red... |
OMIM:112240 |
Roifman Syndrome |
|
Hip contracture, Short metacarpal, Thin upper lip vermilion, Biconvex vertebral bodies, Short sta... |
OMIM:616651 |
Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Synophrys, Lens coloboma, Downturned corners of mouth, M... |
OMIM:619539 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Short... |
ORPHA:96334 |
Recombinant Chromosome 8 Syndrome |
|
Thin upper lip vermilion, Micrognathia, Abnormality of the dentition, Postnatal growth retardatio... |
OMIM:179613 |
Hydrolethalus |
|
Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Gingival cleft, Cleft pala... |
ORPHA:2189 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Short stature, Micrognathia, Postnatal growth retardation, Small hand, Cleft palate, Short foot, ... |
ORPHA:96184 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Micrognathia, Short neck, Knee flexion contracture, High palate, Wrist flexion contra... |
OMIM:121050 |
1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Epicanthus, Toe syndactyly, Cataract, Short stature, Short foot, Joint hype... |
ORPHA:250989 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Cataract, Sparse eyelashes, Short ... |
ORPHA:35173 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Deeply set eye, Ectopia lentis, Thick vermilion border, Long philtrum |
ORPHA:833 |
Keratoconus 9 |
|
Keratoconus, Decreased corneal thickness |
OMIM:617928 |
Menke-Hennekam Syndrome 1 |
|
Micrognathia, Deep philtrum, Flexion contracture, Cutaneous syndactyly of toes, Deeply set eye, H... |
OMIM:618332 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Delayed eruption of teeth, Short stature, Deeply set eye, Oligodontia, Hypodontia, Delayed puberty |
ORPHA:447896 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Microdontia, Hypoplasia of the femoral hea... |
OMIM:607014 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Abnormali... |
ORPHA:353277 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Median cleft lip, Sandal gap, Bilateral cleft lip, Postaxial pol... |
OMIM:612651 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Hip contracture, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Sc... |
OMIM:600175 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Dental crowding, Synophrys, Coronal craniosynostosis, Clinodactyly o... |
OMIM:257920 |
Typical Nemaline Myopathy |
|
Ptosis, Micrognathia, Short neck, Hyperlordosis, Kyphosis, Flexion contracture, Hip dislocation, ... |
ORPHA:171436 |
Robinow Syndrome, Autosomal Dominant 1 |
|
Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Orofacial cleft, Downturned co... |
OMIM:180700 |
Optic Atrophy-Intellectual Disability Syndrome |
|
Keratoconus, Epicanthus, Short stature, Tapered finger, Upslanted palpebral fissure |
ORPHA:401777 |
Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Cataract, Severe short stature, Micrognathia, Short long bone, Dispropo... |
OMIM:224410 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Deeply set eye, Heterochromia iridis |
OMIM:143000 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Abnormal size of the palpebral fissures, Camptodactyly of finger, Corneal ... |
ORPHA:1101 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Abnormal limb epiphysis morphology, Abnormal odontoid process morphology, Kyphoscoliosis, Metaphy... |
ORPHA:2976 |
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch |
|
Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Pulp calcification, Con... |
OMIM:606895 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Disproportionate short-trunk short stature, Irregular, rachitic-like metaphyses, Short neck, Kyph... |
OMIM:184252 |
Monosomy 18P |
|
Ptosis, Epicanthus, Short stature, Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Cleft... |
ORPHA:1598 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of the hand, Abn... |
OMIM:271665 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,... |
OMIM:114290 |
Cockayne Syndrome Type 1 |
|
Mandibular prognathia, Cataract, Foot joint contracture, Delayed eruption of primary teeth, Abnor... |
ORPHA:90321 |
Holoprosencephaly 9 |
|
Short stature, Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxia... |
OMIM:610829 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Micrognathia, Knee flexion contracture, Oligodontia, High palate, Clinodactyly of the 5th finger,... |
OMIM:210730 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Osteopenia, Dental crowding, Down-sloping shoulders, Coxa valga, Joint stiffness, Micrognathia, P... |
OMIM:248370 |
Bachmann-Bupp Syndrome |
|
Thin upper lip vermilion, Absent eyebrow, Sparse eyelashes, Blepharophimosis, Hypertelorism, Deep... |
OMIM:619075 |
Noonan Syndrome 1 |
|
Ptosis, Epicanthus, Short stature, Kyphoscoliosis, Micrognathia, Short neck, High, narrow palate,... |
OMIM:163950 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Synophrys, Distal wi... |
OMIM:602535 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Pettigrew Syndrome |
|
Mandibular prognathia, Flexion contracture, Wide mouth, Deeply set eye, Thick vermilion border, S... |
OMIM:304340 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Anterior atlanto-occ... |
ORPHA:536467 |
Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
Orofaciodigital Syndrome Xix |
|
Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Broad hallux, Cleft soft... |
OMIM:620107 |
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome |
|
Joint laxity, Craniosynostosis, Micrognathia, Hypertelorism, Upslanted palpebral fissure, Deeply ... |
ORPHA:412069 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Epicanthus, Broad hallux, 2-3 toe syndactyly, Wide mouth, Deeply set eye, Astigmatism, High palat... |
OMIM:619934 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout... |
ORPHA:1507 |
Primrose Syndrome |
|
Hypoplasia of the maxilla, Synophrys, Flexion contracture, Knee flexion contracture, Reduced bone... |
OMIM:259050 |
Doors Syndrome |
|
Short lingual frenulum, Abnormal finger morphology, Hemivertebrae, Downturned corners of mouth, W... |
ORPHA:79500 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha... |
ORPHA:15 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... |
ORPHA:75508 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Ptosis, Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finger, Hypertelorism, Hypoplasi... |
ORPHA:306542 |
Distal Triplication 15Q |
|
Telecanthus, Arachnodactyly, Corneal dystrophy, Craniosynostosis, Micrognathia, Hypertelorism, Ky... |
ORPHA:314588 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Hypertelorism, Micrognathia, Wide anterior fontanel, Kyphosis |
OMIM:618272 |
Angelman Syndrome |
|
Mandibular prognathia, Keratoconus, Iris hypopigmentation, Protruding tongue, Wide mouth, Astigma... |
ORPHA:72 |
Tricho-Retino-Dento-Digital Syndrome |
|
Abnormality of the dentition, Supernumerary tooth, Oligodontia, Juvenile cataract, Short 5th meta... |
ORPHA:1264 |
X-Linked Intellectual Disability, Cilliers Type |
|
Short stature, Small hand, Deeply set eye, Clinodactyly of the 5th finger, Coronal craniosynostosis |
ORPHA:163971 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Micrognathia, Hypotelorism, Deeply set eye, High palate, Clinodactyly of the 5th finger, Syndacty... |
OMIM:616975 |
Corneal Dystrophy, Congenital Stromal |
|
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy |
OMIM:610048 |
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies |
|
Osteopenia, Lacrimal duct stenosis, Palpebral edema, Hyperlordosis, Hypertelorism, Dermatochalasi... |
ORPHA:221139 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dental crowding, Micrognathia, Narrow mouth, Flexion contracture, Hypoplasia of teeth, Growth del... |
OMIM:608612 |
Cranio-Osteoarthropathy |
|
Joint stiffness, Abnormal tibia morphology, Osteoarthritis, Clubbing of toes, Deviation of finger... |
ORPHA:1525 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Short stature, Abnormality of the dentition, Carious teeth,... |
ORPHA:1786 |
Galloway-Mowat Syndrome 3 |
|
Epicanthus, Arachnodactyly, Short stature, Micrognathia, Hypertelorism, Narrow mouth, Hip disloca... |
OMIM:617729 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Cataract, Sparse eyelashes, Rhizomelia, Postaxial polydactyly, Short neck, Sparse eyebrow, Kyphos... |
OMIM:302960 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Epicanthus, Short stature, Highly arched eyebrow, Cleft upper lip, Shor... |
OMIM:243310 |
Pseudohypoparathyroidism, Type Ic |
|
Delayed eruption of teeth, Short metacarpal, Cataract, Short stature, Short neck, Short metatarsa... |
OMIM:612462 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Micrognathia, Sparse eyebrow, Hypertelorism, Synophrys, Upslanted palpebral fissure, Growth delay... |
OMIM:617193 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Lumbar hyperlordosis, Hypertelorism, Synophrys, Downturned corners of mouth, Deeply set eye, Asti... |
OMIM:617796 |
Mucolipidosis Iii Gamma |
|
Short stature, Joint stiffness, Flat capital femoral epiphysis, Short neck, Hyperlordosis, Kyphos... |
OMIM:252605 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... |
OMIM:268305 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Blue irides, Wide mouth, Mac... |
OMIM:105830 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 15 |
|
Deeply set eye, Short stature, Hip dislocation, Scoliosis |
OMIM:619059 |
Leber Congenital Amaurosis 1 |
|
Keratoconus, Cataract, Growth delay |
OMIM:204000 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Epicanthus, Short stature, Highly arched eyebrow, Micrognathia, Hyperte... |
OMIM:618454 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Downturned corners of mouth, Deeply set eye, ... |
OMIM:136140 |
Xylt1-Cdg |
|
Joint laxity, Short stature, Coxa valga, Synophrys, Flared metaphysis, Cleft palate, Growth delay... |
ORPHA:370930 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ... |
OMIM:300554 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Dental crowding, Micrognathia, Kyphosis, Osteoporosis, Proptosis, Scoliosis, Narrow mouth, Joint ... |
OMIM:615381 |
Heart Defects-Limb Shortening Syndrome |
|
Mesomelic/rhizomelic limb shortening, Kyphosis, Disproportionate short stature, Abnormal form of ... |
ORPHA:1354 |
Zttk Syndrome |
|
Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturned corners of mouth, Deepl... |
OMIM:617140 |
Acro-Renal-Mandibular Syndrome |
|
Micrognathia, Short neck, Hemivertebrae, Orofacial cleft, High palate, Short philtrum, Hypoplasia... |
ORPHA:958 |
Gm1-Gangliosidosis, Type Iii |
|
Short stature, Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar ... |
OMIM:230650 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Bulging epiphyses, Thin bony cortex, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ... |
OMIM:241530 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Epiphyseal dysplasia, Bowing of the long bones, Joint laxity, Short stature, Kyphosco... |
OMIM:615349 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Osteopenia, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Shoulder dislocation, High palat... |
ORPHA:536532 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Genitopalatocardiac Syndrome |
|
Micrognathia, Hypertelorism, Kyphosis, Postaxial hand polydactyly, Non-midline cleft lip, Cleft p... |
ORPHA:2075 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Mandibular prognathia, Short neck, High, narrow palate, Deep philtrum, Downturned corners of mout... |
OMIM:619950 |
X-Linked Intellectual Disability, Cabezas Type |
|
Short neck, Synophrys, High palate, Short philtrum, Short palm, Clinodactyly of the 5th finger, S... |
ORPHA:85293 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short stature, Highly arched eyebrow, Abnormality of the dentition, Short neck, Wide mouth, Upsla... |
OMIM:615802 |
Lacrimoauriculodentodigital Syndrome 2 |
|
Absent lacrimal punctum, Duplication of thumb phalanx, Conical tooth, Abnormal thumb morphology, ... |
OMIM:620192 |
Tooth Agenesis, Selective, X-Linked, 1 |
|
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... |
OMIM:313500 |
Caffey Disease |
|
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... |
OMIM:114000 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Micrognathia, Short neck, 2-3 toe cutaneous syndactyly, High palate, ... |
OMIM:609625 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Short toe, Cone-shaped epiphyses of the phalanges of the... |
OMIM:619269 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Short neck, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Microdontia, Hyperte... |
OMIM:619194 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Osteopenia, Thick eyebrow, Telecanthus, Symblepharon, Short neck, Small hand, Retrognathia, Short... |
ORPHA:488434 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
9Q21.13 Microdeletion Syndrome |
|
Craniosynostosis, Postnatal growth retardation, Abnormal tongue morphology, Downturned corners of... |
ORPHA:531151 |
Cockayne Syndrome Type 2 |
|
Mandibular prognathia, Delayed eruption of primary teeth, Kyphosis, Flexion contracture, Developm... |
ORPHA:90322 |
Keratoconus 1 |
|
Keratoconus, Astigmatism |
OMIM:148300 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Epicanthus, Sandal gap, Craniosynostosis, Short neck, Hyperteloris... |
ORPHA:254346 |
Rauch-Steindl Syndrome |
|
Epicanthus, Telecanthus, Sacral dimple, Short stature, Highly arched eyebrow, Micrognathia, Almon... |
OMIM:619695 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Knee flexion contracture, ... |
OMIM:615290 |
Wiedemann-Rautenstrauch Syndrome |
|
Micrognathia, Short neck, Flexion contracture, Hypotelorism, Downturned corners of mouth, Deeply ... |
OMIM:264090 |
Warburg Micro Syndrome 4 |
|
Short stature, Narrow mouth, Flexion contracture, Developmental cataract, Microcornea, Severe pos... |
OMIM:615663 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Narrow palate, Femoral bowing, Macroglo... |
OMIM:617022 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Microcornea, Short philtr... |
ORPHA:464738 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Iliac crest serration, Rhizomelia, Hypoplasia of... |
ORPHA:239 |
Silver-Russell Syndrome 3 |
|
Syndactyly, Short stature, Elbow contracture, Postnatal growth retardation, Small hand, Antecubit... |
OMIM:616489 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Dental crowding, Tapered finger, Unilateral radial aplasia, Partial absence of thumb,... |
ORPHA:476126 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Unicoronal syn... |
OMIM:616300 |
Prolidase Deficiency |
|
Arachnodactyly, Micrognathia, Carious teeth, Hypertelorism, Reduced bone mineral density, Genu va... |
ORPHA:742 |
Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Thin upper lip vermilion, Arachnodactyly, Hypertelorism, Upslanted palpebral fissure, Deeply set ... |
OMIM:612242 |
Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Generalized joint laxity, Short phalanx ... |
OMIM:600373 |
Thanatophoric Dysplasia |
|
Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Joint hyperflexibility, Hip dysp... |
ORPHA:2655 |
Al Kaissi Syndrome |
|
Thin upper lip vermilion, Epicanthus, Telecanthus, Macrodontia, Sacral dimple, Short stature, Hyp... |
OMIM:617694 |
17Q24.2 Microdeletion Syndrome |
|
Thin upper lip vermilion, Micrognathia, Short neck, Hypertelorism, Synophrys, Upper limb undergro... |
ORPHA:529962 |
Mucopolysaccharidosis, Type Vii |
|
Short neck, Flexion contracture, Narrow greater sciatic notch, Widely spaced teeth, Anterior beak... |
OMIM:253220 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Hypertelorism, Deep philtrum, Everted lower lip vermilion, Long phi... |
OMIM:137550 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Lens su... |
OMIM:609008 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lumbar hyperlordosis, Short stature, Kyphosis, Hip dislocation, Scoliosis |
OMIM:616756 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Deeply set eye, Short stature |
OMIM:300699 |
15Q14 Microdeletion Syndrome |
|
Short stature, Abnormality of the dentition, Kyphosis, Cleft palate, Deeply set eye, Short philtr... |
ORPHA:261190 |
Chime Syndrome |
|
Short philtrum, Short palm, Microdontia, Abnormal dental morphology, Aplastic clavicle, Hypertelo... |
ORPHA:3474 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Epicanthus, Proximal placement of thumb, Hypertelorism, Kyphosis, High palate, Short philtrum, Do... |
OMIM:615433 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Carious teeth, Downturned corners of mouth, Hypoplasia of the zygomatic bo... |
ORPHA:1110 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Tented upper lip vermilion, Cataract, Hypertelorism, Kyphosis, 2-3 toe syndactyly, Cl... |
OMIM:616449 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Short stature, Arachnodactyly, Deeply set eye, Scoliosis, Joint hypermobility |
OMIM:619013 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thin bony cortex, Thick upper lip vermilion, Epicanthus, Mydriasis, Short ... |
OMIM:619727 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Entropion, Short stature, Abnormal dental enamel morphology, Trichiasis, Cleft up... |
OMIM:601701 |
Baralle-Macken Syndrome |
|
Cataract, Tapered finger, High, narrow palate, Kyphosis, Upslanted palpebral fissure |
OMIM:619255 |
Aspartylglucosaminuria |
|
Mandibular prognathia, Abnormal morphology of ulna, Joint stiffness, Abnormality of the dentition... |
ORPHA:93 |
Monosomy 22Q13.3 |
|
Epicanthus, Sacral dimple, Dental crowding, Palpebral edema, Dental malocclusion, Deeply set eye,... |
ORPHA:48652 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Micrognathia, Short neck, Synophrys, Hypotelorism, Deeply set eye, Widely ... |
OMIM:612474 |
Ssr4-Cdg |
|
Abnormality of upper lip vermillion, Wide mouth, Deeply set eye, Widely spaced teeth, Scoliosis |
ORPHA:370927 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Short stature, Limb joint contracture, Kyphoscoliosis, Carious teeth, Hypodontia, Delayed puberty |
OMIM:612079 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormal dental morphology, Abnormal dental enamel morphology,... |
ORPHA:3253 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Hooded eyelid, Micrognathia, Synophrys, Short phi... |
OMIM:619841 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Osteopathia striata, Short metatarsal, Oligodontia, Foot oligodactyly... |
OMIM:305600 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Epicanthus, Toe syndactyly, Palpebral edema, Camptodactyly of finger, Sacr... |
ORPHA:261337 |
1p36 microdeletion syndrome |
|
Deeply set eye |
DECIPHER:18 |
Stromme Syndrome |
|
Cataract, Sclerocornea, Micrognathia, Hypertelorism, Preaxial polydactyly, Cleft palate, Wide mou... |
OMIM:243605 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Carious teeth, Syndactyly, Enamel hypoplasia |
OMIM:226700 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
High, narrow palate, Calcaneovalgus deformity, High palate, Arachnodactyly, Short stature, Retrog... |
OMIM:612513 |
3C Syndrome |
|
Finger syndactyly, Short stature, Micrognathia, Short neck, High, narrow palate, Kyphosis, Postna... |
ORPHA:7 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Corneal opacity, Camptodactyly of finger, Short stature, Joint stiffness, ... |
ORPHA:354 |
Oslam Syndrome |
|
Clinodactyly of the 5th finger, Radioulnar synostosis, Carious teeth, Short stature |
ORPHA:2760 |
Silent Sinus Syndrome |
|
Deeply set eye |
ORPHA:71276 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Osteopenia, Mandibular prognathia, Mild postnatal growth retardation, Micrognathia, Deep philtrum... |
OMIM:150230 |
Megalencephaly |
|
Deeply set eye, Short neck, Genu valgum |
ORPHA:2477 |
Leber Congenital Amaurosis 2 |
|
Keratoconus, Cataract |
OMIM:204100 |
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome |
|
Hypertelorism, Telecanthus, Deeply set eye, Micrognathia |
ORPHA:2575 |
Cardiofacioneurodevelopmental Syndrome |
|
Micrognathia, Hypertelorism, Cleft lip, Kyphosis, Cleft palate, Hypotelorism, Upslanted palpebral... |
OMIM:619123 |
Leber Congenital Amaurosis 8 |
|
Keratoconus, Deeply set eye, Cataract |
OMIM:613835 |
Cdags Syndrome |
|
Ectropion, Sparse eyelashes, Sagittal craniosynostosis, Sparse eyebrow, Kyphosis, Cleft palate, S... |
OMIM:603116 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia... |
ORPHA:536471 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Bowing of the legs, Rickets, Growth delay, Tooth abscess |
ORPHA:89937 |
Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Micrognathia, Postnatal growth retardation, Hip dysplasia, Astigmatism, Scoliosis, Pe... |
ORPHA:494344 |
Holoprosencephaly |
|
Short neck, Deep philtrum, Synophrys, Abnormal form of the vertebral bodies, Hypotelorism, Deeply... |
ORPHA:2162 |
Lateral Meningocele Syndrome |
|
Smooth philtrum, Vertebral fusion, Telecanthus, Dental crowding, Short stature, Micrognathia, Sho... |
OMIM:130720 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Joint laxity, Natal tooth, Cataract, Broad hallux, Dental crowding, Short stature, Avascular necr... |
ORPHA:353281 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border |
OMIM:620114 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Epicanthus, Proportionate short stature, Micrognathia, Hypertelorism, Growth delay, Macroglossia,... |
OMIM:613457 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Short long bone, Scoliosis, Camptodactyly, Intrauterine growth retardation |
OMIM:619751 |
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Epicanthus, Sandal gap, Broad hallux, Short stature, Short neck, Postnatal growth ret... |
OMIM:614800 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, High, narrow palate, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scol... |
ORPHA:2181 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Radial bowing, Disc-like vertebral bodies, Ovoid vertebral bodies, Dumbbell-shaped long bone, Hyp... |
OMIM:151210 |
Wrinkly Skin Syndrome |
|
Osteopenia, Microretrognathia, Smooth philtrum, Congenital hip dislocation, Delayed eruption of t... |
OMIM:278250 |
Hurler-Scheie Syndrome |
|
Corneal opacity, Camptodactyly of finger, Short stature, Micrognathia, Joint stiffness, Contractu... |
OMIM:607015 |
Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Conical tooth, Shor... |
OMIM:263750 |
Keratoconus 6 |
|
Keratoconus |
OMIM:614623 |
Keratoconus 5 |
|
Keratoconus |
OMIM:614622 |
Keratoconus 8 |
|
Keratoconus |
OMIM:614628 |
Keratoconus 7 |
|
Keratoconus |
OMIM:614629 |
Pyknoachondrogenesis |
|
Craniofacial hyperostosis, Abnormal intramembranous ossification, Palpebral edema, Short iliac bo... |
ORPHA:3003 |
Distal Deletion 19P |
|
Long toe, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Joint hyperflexibility, Short ... |
ORPHA:96129 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Sclerocornea, Micrognathia, Abnormal form of the vertebral bodies, Downt... |
ORPHA:280 |
Weaver Syndrome |
|
Mandibular prognathia, Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing,... |
OMIM:277590 |
Cardiospondylocarpofacial Syndrome |
|
Severe short stature, High, narrow palate, Abnormal form of the vertebral bodies, Short palm, Fai... |
ORPHA:3238 |
Bangstad Syndrome |
|
Short stature, Abnormality of the dentition, Deviation of finger, Deeply set eye, Intrauterine gr... |
ORPHA:1227 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Mandibular prognathia, Micrognathia, Hemivertebrae, Downturned corners of mouth, Widely spaced te... |
OMIM:156200 |
Cutis Laxa, Autosomal Recessive, Type Iia |
|
Congenital hip dislocation, Carious teeth, Wide anterior fontanel, High palate, Scoliosis, Narrow... |
OMIM:219200 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
Thin upper lip vermilion, Deeply set eye, Recurrent aphthous stomatitis, Long philtrum, Overlappi... |
OMIM:615966 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Ptosis, Short metacarpal, Epicanthus, Dental crowding, Sacral dimple, Short stature, Short neck, ... |
OMIM:617157 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Mandibular prognathia, Epicanthus, Tented upper lip vermilion, Palpebral edema, Kyphosis, Growth ... |
ORPHA:261144 |
Distal Deletion 10Q |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Hypotelorism, High palate, Clinodac... |
ORPHA:96148 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Short statur... |
OMIM:239000 |
Pontocerebellar Hypoplasia, Type 6 |
|
Deeply set eye, Elbow contracture, Narrow palate |
OMIM:611523 |
Leber Congenital Amaurosis 4 |
|
Keratoconus |
OMIM:604393 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Joint laxity, Mandibular prognathia, Entropion, Overlapping toe, Dental crowding, Kyphoscoliosis,... |
OMIM:617402 |
Prader-Willi Syndrome |
|
Osteopenia, Downturned corners of mouth, Short palm, Iris hypopigmentation, Syndactyly, Short sta... |
OMIM:176270 |
Warburg Micro Syndrome 3 |
|
Cataract, Kyphoscoliosis, Micrognathia, Blepharophimosis, Postnatal growth retardation, Flexion c... |
OMIM:614222 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Unilateral ptosis, Dental crowding, Synophrys, High palate, Short philtrum... |
ORPHA:3063 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ... |
ORPHA:3454 |
Marfan Syndrome |
|
Dental crowding, Equinus calcaneus, Micrognathia, Flexion contracture, Hypoplasia of the iris, De... |
OMIM:154700 |
Faundes-Banka Syndrome |
|
Thin upper lip vermilion, Broad eyebrow, Epicanthus, Micrognathia, Hypertelorism, Cleft palate, H... |
OMIM:619376 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Hypoplastic scapulae, Cataract, Short stature, Femoral retroversion, Hypertelorism, Kyphosis, Oro... |
ORPHA:79107 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex... |
ORPHA:3103 |
Masa Syndrome |
|
Kyphosis, Hyperlordosis, Short stature, Adducted thumb |
OMIM:303350 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Wide mouth, Joint hyperflexibility, Deeply set eye, Hand polyd... |
ORPHA:60040 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Deeply set eye, Flexion contracture |
OMIM:612138 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly, Osteoporosis, Short stature |
ORPHA:2786 |
Williams Syndrome |
|
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C... |
ORPHA:904 |
Gm1-Gangliosidosis, Type Ii |
|
Joint stiffness, Coxa valga, Protruding tongue, Gingival overgrowth, Hypoplastic vertebral bodies... |
OMIM:230600 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, High palate, Clinoda... |
ORPHA:235 |
Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Hypoplasia ... |
ORPHA:920 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar... |
OMIM:250420 |
Pachydermoperiostosis |
|
Ptosis, Osteomyelitis, Limitation of joint mobility, Osteoporosis, Small hand, Clubbing of toes, ... |
ORPHA:2796 |
Retinitis Pigmentosa |
|
Keratoconus, Cataract |
ORPHA:791 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Deeply set eye, Clinodactyly, Short philtrum, Hypotelorism |
OMIM:603585 |
Neonatal Marfan Syndrome |
|
Long toe, Iridodonesis, Arachnodactyly, Micrognathia, Ectopia lentis, Long fingers, High, narrow ... |
ORPHA:284979 |
Pelger-Huet Anomaly |
|
Abnormality of the dentition, Hypertelorism, Kyphosis, Upper limb undergrowth, Gingival overgrowt... |
OMIM:169400 |
Mandibuloacral Dysplasia |
|
Dental crowding, Micrognathia, Postnatal growth retardation, Abnormal tongue morphology, Hypoplas... |
ORPHA:2457 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Craniosynostosis, Postnatal growth retar... |
OMIM:614732 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Hip contracture, Cataract, Hypoplasia of the nasal bone, Moderate postnatal growth retardation, K... |
OMIM:118650 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Absent eyebrow, Dental crowding, Corneal opacity, Cleft upper li... |
OMIM:219000 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Crumpled long bones, Short stature, Protrusio acetabuli, Femoral retroversion, Bowing... |
OMIM:610682 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Wide anterior fontanel, Synophrys, Long eyelashes, Deeply set eye |
OMIM:619064 |
Bosma Arhinia Microphthalmia Syndrome |
|
Paranasal sinus hypoplasia, Cataract, Hypertelorism, Cleft lip, Synophrys, Dental malocclusion, L... |
OMIM:603457 |
Neurofaciodigitorenal Syndrome |
|
Mandibular prognathia, Epicanthus, Abnormal distal phalanx morphology of finger, Abnormal oral mu... |
ORPHA:2673 |
Webb-Dattani Syndrome |
|
Short stature, Deep philtrum, Hip dislocation, Deeply set eye, Retrognathia |
OMIM:615926 |
Arthrogryposis, Distal, Type 4 |
|
Osteopenia, 2-5 finger cutaneous syndactyly, Kyphosis, Camptodactyly of 2nd-5th fingers, Distal a... |
OMIM:609128 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Short stature, High, narrow palate, Kyphosis, Split hand, Scoliosis |
OMIM:618124 |
Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Thick eyebrow, Kyphoscoliosis, Proportionate short stature, Hypertelorism,... |
ORPHA:404443 |
Cranioectodermal Dysplasia 3 |
|
Joint laxity, Telecanthus, Sandal gap, Short stature, Postaxial polydactyly, Sagittal craniosynos... |
OMIM:614099 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Kyphoscoliosis, Hip dislocation, Buphthalmos, High palate, Intrauterin... |
OMIM:618005 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Ptosis, Epicanthus, Telecanthus, Short stature, Craniosynostosis, Hyper... |
OMIM:618050 |
Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Hypertelorism, High palate, Camptodactyly, Int... |
OMIM:614846 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Mandibular prognathia, Hip contracture, Short stature, Kyphosis, Elbow flexion contracture, Genu ... |
OMIM:618493 |
1Q41Q42 Microdeletion Syndrome |
|
Short stature, Submucous cleft hard palate, Abnormality iris morphology, Cleft palate, Hypotelori... |
ORPHA:250999 |
16Q24.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, Highly arched eyebrow, Kyphosis, Wide mouth, Upslanted... |
ORPHA:261250 |
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia |
|
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors |
OMIM:610706 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Short lingual frenulum, Epicanthus, P... |
OMIM:614091 |
Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Epicanthus, Abnormality of the dentition, Osteoarthritis, Limitation of joint mobili... |
ORPHA:285 |
Craniosynostosis 2 |
|
Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Hypotelorism, Tr... |
OMIM:604757 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Thin upper lip vermilion, Short fourth metatarsal, Epicanthus, Overlapping toe, Short stature, Bi... |
OMIM:619557 |
Cowden Syndrome 5 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scolio... |
OMIM:615108 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Kyphosis, Spinal canal stenosi... |
ORPHA:1724 |
Dent Disease 1 |
|
Bulging epiphyses, Thin bony cortex, Short stature, Osteomalacia, Recurrent fractures, Bowing of ... |
OMIM:300009 |
2P15P16.1 Microdeletion Syndrome |
|
High palate, Tapered finger, Sparse eyebrow, Scoliosis, Narrow mouth, Retrognathia, Smooth philtr... |
ORPHA:261349 |
Koolen-De Vries Syndrome |
|
Hypotelorism, High palate, Widely spaced teeth, Prominent fingertip pads, Iris hypopigmentation, ... |
OMIM:610443 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Everted upper lip vermilion, Sparse eyelashes, Abnormal oral mucosa morphology, C... |
OMIM:305100 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Hypoplastic iliac wing, Anterior wedging of L1, Lumbar... |
OMIM:253200 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Severe short stature, Short stature, Short neck, Kyphosis, Split hand,... |
OMIM:309900 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Thor... |
OMIM:618019 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Deeply set eye, Scoliosis |
OMIM:614254 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ... |
OMIM:200990 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility |
OMIM:618323 |
Warburg Micro Syndrome 2 |
|
Cataract, Overlapping toe, Postnatal growth retardation, Flexion contracture, Developmental catar... |
OMIM:614225 |
8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Congenital hip dislocation, Short neck, Cleft maxillary alveolar ridge, Finge... |
ORPHA:508488 |
Zimmermann-Laband Syndrome 2 |
|
Short stature, Short neck, Kyphosis, Deep philtrum, Synophrys, Gingival overgrowth, Macroglossia,... |
OMIM:616455 |
Craniofacial-Deafness-Hand Syndrome |
|
Telecanthus, Hypertelorism, Hypoplasia of the maxilla, Malar flattening, Downslanted palpebral fi... |
OMIM:122880 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f... |
OMIM:272460 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Absent cupid's bow, Synophrys, Deeply set eye, Astigmatism, Downslanted palpebral fissures, Short... |
ORPHA:284169 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Hypert... |
ORPHA:2919 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Synophrys, Downturned corners of mouth, Hypoplastic vertebral bodies, Deeply set eye,... |
ORPHA:3455 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac... |
ORPHA:85167 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Shallow orbits, Short palm, Short phalanx of finger, Sh... |
OMIM:258480 |
Williams-Beuren Syndrome |
|
Osteopenia, Flexion contracture, Hypotelorism, Clinodactyly of the 5th finger, Microdontia, Joint... |
OMIM:194050 |
Autosomal Dominant Robinow Syndrome |
|
Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemivertebrae, Coxa va... |
ORPHA:3107 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Smooth philtrum, Medial flaring of the eyebrow, Broad eyebrow, Short stature, Proximal placement ... |
OMIM:620113 |
Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Protruding tongue, Postnatal ... |
OMIM:300963 |
Cowden Syndrome 6 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scolio... |
OMIM:615109 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Vertebral segmentation defect, Narrow greater sciatic notch, Short palm, E... |
OMIM:312870 |
Orofaciodigital Syndrome Type 1 |
|
Micrognathia, Reduced bone mineral density, Lobulated tongue, High palate, Clinodactyly of the 5t... |
ORPHA:2750 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Knee flexion contracture, Downturned corners of mouth, Clinodactyly of the 5th finger, Joint laxi... |
ORPHA:488642 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Cataract, Short stature, Kyphosis, Syn... |
ORPHA:3042 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Joint hyperflexibility, Cataract, Kyphosis, Ptosis |
ORPHA:1875 |
Vascular Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormality of the gingiva, Abno... |
ORPHA:286 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ... |
OMIM:309350 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Postaxial polydactyly, Micrognathia, Hamartoma of tongue, Wide anterior fontanel, Cl... |
OMIM:617925 |
Kaufman Oculocerebrofacial Syndrome |
|
Congenital hip dislocation, Micrognathia, Microcornea, High palate, Clinodactyly of the 5th finge... |
OMIM:244450 |
Xfe Progeroid Syndrome |
|
Severe short stature, Corneal scarring, Deeply set eye, Scoliosis, Premature loss of teeth, Ename... |
OMIM:610965 |
Loeys-Dietz Syndrome 3 |
|
Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Hype... |
OMIM:613795 |
Catel-Manzke Syndrome |
|
Micrognathia, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uvula,... |
OMIM:616145 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Micrognathia, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip |
ORPHA:77300 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Thin upper lip vermilion, Telecanthus, Peters anomaly, Hypertelorism, Synophrys, Deeply set eye, ... |
OMIM:618929 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Mend Syndrome |
|
Telecanthus, Sacral dimple, Overlapping toe, Broad hallux, Cataract, Micrognathia, Asymmetry of t... |
ORPHA:401973 |
Xeroderma Pigmentosum, Complementation Group F |
|
Short stature, Flexion contracture, Deeply set eye, Astigmatism, Scoliosis |
OMIM:278760 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Sparse eyelashes, Craniosynostosis, Postaxial polydactyly, Sparse eyebrow, Postnatal ... |
OMIM:605627 |
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation |
|
Cataract, Protruding tongue, Gingival overgrowth, Wide mouth, Deeply set eye, Horizontal eyebrow,... |
OMIM:618797 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Joint laxity, Mandibular prognathia, Arachnodactyly, Hyperlordosis, Sparse eyebrow, Kyphosis, Hyp... |
OMIM:617011 |
Floating-Harbor Syndrome |
|
Short neck, Hypoplasia of the maxilla, Deeply set eye, Humeral pseudarthrosis, Oligodontia, Short... |
ORPHA:2044 |
Geleophysic Dysplasia 1 |
|
Short palm, Osteopenia, Short stature, Camptodactyly of finger, Coxa valga, Joint stiffness, Shor... |
OMIM:231050 |
Developmental And Epileptic Encephalopathy 84 |
|
Smooth philtrum, Epicanthus, Synophrys, Thick lower lip vermilion, Deeply set eye, Blepharophimos... |
OMIM:618792 |
Lacrimoauriculodentodigital Syndrome 3 |
|
Absent lacrimal punctum, Epicanthus, Carious teeth, Short thumb, Partial duplication of thumb pha... |
OMIM:620193 |
Laron Syndrome |
|
Delayed menarche, Short long bone, Severe short stature |
OMIM:262500 |
Trichodermodysplasia-Dental Alterations Syndrome |
|
Delayed eruption of teeth, Abnormal dental morphology, Hyperlordosis, Supernumerary tooth, Tooth ... |
ORPHA:3353 |
Leber Congenital Amaurosis |
|
Keratoconus, Cataract |
ORPHA:65 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Cataract, Short stature, Spinal rigidity, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:617404 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Multiple enchondromatosis, Hammertoe, Deeply set eye, Micrognathia |
OMIM:620189 |
Kleefstra Syndrome 2 |
|
Kyphosis, Growth delay, Everted lower lip vermilion, Scoliosis, Bifid uvula, Thick eyebrow |
OMIM:617768 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Cataract, Down-slopi... |
OMIM:109400 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of the maxilla, Oligodontia, Microd... |
OMIM:129900 |
Cleft Velum |
|
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Joint stiffness, Hypoplastic ilia, Abnormal sacroiliac joi... |
ORPHA:1860 |
Poikiloderma With Neutropenia |
|
Joint laxity, Short stature, Micrognathia, Carious teeth, Joint stiffness, Sparse eyebrow, Hypert... |
OMIM:604173 |
Wolf-Hirschhorn Syndrome |
|
Micrognathia, Orofacial cleft, Abnormal form of the vertebral bodies, Downturned corners of mouth... |
OMIM:194190 |
Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Severe short stature, Carious teeth, Preaxial hand polydactyly, Absent eyelashes,... |
ORPHA:2316 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Hypotelorism, Deeply set eye, High palate, Joint laxity, Short stature, ... |
OMIM:619325 |
Marfan Syndrome |
|
Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Hypoplasi... |
ORPHA:558 |
Trichothiodystrophy 2, Photosensitive |
|
Short stature, Agenesis of maxillary lateral incisor |
OMIM:616390 |
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis |
|
Osteopenia, Calvarial hyperostosis, Carious teeth |
OMIM:612714 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Sparse eyelashes, Cleft upper ... |
OMIM:604292 |
Cerebrocostomandibular Syndrome |
|
Short humerus, Epicanthus, Congenital hip dislocation, Calcaneal epiphyseal stippling, Cleft soft... |
OMIM:117650 |
Deafness-Craniofacial Syndrome |
|
Short lingual frenulum, Abnormality of the dentition, Upslanted palpebral fissure, Deeply set eye... |
ORPHA:3241 |
Restrictive Dermopathy 1 |
|
Micrognathia, Flexion contracture, Overtubulated long bones, Hypertelorism, Absent eyelashes, Ank... |
OMIM:275210 |
Spondyloocular Syndrome |
|
Long toe, Osteopenia, Cataract, Overlapping toe, Arachnodactyly, Femur fracture, Abnormality of t... |
OMIM:605822 |
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Ankylosis, Abnormal... |
ORPHA:659 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Femoral bowing, Increased suscept... |
OMIM:166200 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Epicanthus, Hypertelorism, Kyphosis, Upslanted palpebral fissure, Intrauterine... |
OMIM:619909 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Micrognathia, Short neck, Synophrys, Microcornea, Short palm, Clinodactyly of the 5th finger, Mic... |
OMIM:616734 |
Sialidosis Type 2 |
|
Short stature, Corneal opacity, Kyphosis, Flexion contracture, Osteoporosis |
ORPHA:87876 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Epicanthus, Cataract, Short neck, ... |
ORPHA:77301 |
Amelogenesis Imperfecta, Hypomaturation Type, Iia5 |
|
Carious teeth, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth |
OMIM:615887 |
17Q11 Microdeletion Syndrome |
|
Osteopenia, Short stature, Bowing of the legs, Hypertelorism, Kyphosis, Delayed puberty, Osteopor... |
ORPHA:97685 |
Diffuse Cutaneous Systemic Sclerosis |
|
Carious teeth, Flexion contracture, Osteolysis, Arthritis, Narrow foramen obturatorium |
ORPHA:220393 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Epicanthus, Cataract, Hypertelorism, Abnormal thumb morphology, Metatarsus adductus, Tibial bowin... |
ORPHA:500095 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial... |
OMIM:304120 |
Corneodermatoosseous Syndrome |
|
Severe short stature, Abnormal dental enamel morphology, Corneal dystrophy, Carious teeth, Abnorm... |
ORPHA:3194 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, High, narrow palate, Anisocoria, Deeply set eye, Short philtrum, Hig... |
OMIM:613406 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Short long bone, Sacral dimple, Vertebral segmentation defect |
OMIM:618845 |
Tooth Agenesis, Selective, 3 |
|
Microdontia, Oligodontia of primary teeth, Agenesis of permanent molar, Oligodontia |
OMIM:604625 |
Ogden Syndrome |
|
Congenital hip dislocation, Micrognathia, Abnormal eyelid morphology, Short neck, Deep philtrum, ... |
OMIM:300855 |
Tetrasomy 5P |
|
Epicanthus, Overlapping toe, Short hallux, Micrognathia, Short neck, Long fingers, Wide anterior ... |
ORPHA:3309 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Sparse eyelashes, Carious teeth, Sparse eyebrow, Keratitis, Conjunctivitis, Enamel hypo... |
OMIM:612843 |
Myopathy, Centronuclear, 2 |
|
Hyperlordosis, Kyphosis, Flexion contracture, High palate, Scoliosis, Intrauterine growth retarda... |
OMIM:255200 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type |
|
Mandibular prognathia, Thin upper lip vermilion, Hypotelorism, Deeply set eye, Short philtrum |
OMIM:300486 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Cataract, Deeply set eye, Peters anomaly, Retrognathia, Adducted thumb |
OMIM:614643 |
Odontoonychodermal Dysplasia |
|
Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Conical incisor, Widel... |
OMIM:257980 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Severe short stature, Kyphoscoliosis,... |
OMIM:184253 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis |
OMIM:300718 |
Thanatophoric Dysplasia Type 2 |
|
Short stature, Kyphosis, Limitation of joint mobility, Joint hyperflexibility, Platyspondyly, Pro... |
ORPHA:93274 |
Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Sclerocornea, Micrognathia, High, narrow palate, Abn... |
ORPHA:3472 |
Shaheen Syndrome |
|
Carious teeth, Enamel hypoplasia |
OMIM:615328 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Sacral dimple, Cataract, Short stature, Cleft soft palate, Tapered finger, Abnorma... |
ORPHA:268261 |
Wrinkly Skin Syndrome |
|
Osteopenia, Delayed eruption of teeth, Epicanthus, Congenital hip dislocation, Short stature, Kyp... |
ORPHA:2834 |
Chand Syndrome |
|
Short fifth metatarsal, Hypertelorism, Cleft palate, Agenesis of permanent teeth, Ankyloblepharon... |
ORPHA:1401 |
1P21.3 Microdeletion Syndrome |
|
Micrognathia, Wide mouth, Upslanted palpebral fissure, Deeply set eye, Astigmatism, Joint hypermo... |
ORPHA:293948 |
Fraser Syndrome |
|
Finger syndactyly, Toe syndactyly, Dental crowding, Cleft upper lip, Hypertelorism, Dental malocc... |
ORPHA:2052 |
Hallermann-Streiff Syndrome |
|
Natal tooth, Telecanthus, Sparse eyelashes, Recurrent fractures, Tracheomalacia, Micrognathia, Ab... |
ORPHA:2108 |
Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Short stature, Severe postnatal growth retardation, Macroglossia, Deeply set eye, Malar flattening |
OMIM:613038 |
Tetrasomy 9P |
|
Dental crowding, Micrognathia, Short neck, Downturned corners of mouth, Deeply set eye, High pala... |
ORPHA:3310 |
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay |
|
Deeply set eye |
OMIM:618158 |
Cowden Syndrome 1 |
|
Cataract, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Furrowed tongue, High palate, Scolio... |
OMIM:158350 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Cataract, Short stature, Tooth malposition, Hypotelorism, Deeply set eye, Disproportionate short-... |
OMIM:616541 |
Trichothiodystrophy |
|
Osteopenia, Multiple joint contractures, High, narrow palate, Hypotelorism, Microcornea, Conjunct... |
ORPHA:33364 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion |
ORPHA:83601 |
Hypotonia, Ataxia, And Delayed Development Syndrome |
|
Thin upper lip vermilion, Thick eyebrow, Short stature, Tapered finger, Hypertelorism, Deep philt... |
OMIM:617330 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Sclerocornea, Abnormal form of the vertebr... |
ORPHA:818 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Hypoplasia of the maxilla, Hemivertebrae, Downturned corners of mouth, Deeply set eye, Short phil... |
ORPHA:500150 |
Naegeli-Franceschetti-Jadassohn Syndrome |
|
Abnormal dental morphology, Swelling of proximal interphalangeal joints, Interphalangeal joint co... |
ORPHA:69087 |
Holt-Oram Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Joint stiffn... |
ORPHA:392 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Joint laxity, Epicanthus, Overlapping toe, Exaggerated cupid's bow, Postnatal growth re... |
ORPHA:254528 |
Dubowitz Syndrome |
|
Micrognathia, Hypoplasia of the iris, High palate, Clinodactyly of the 5th finger, Megalocornea, ... |
OMIM:223370 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Fle... |
OMIM:618484 |
Amelo-Onycho-Hypohidrotic Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... |
ORPHA:1028 |
Alopecia Antibody Deficiency |
|
Abnormal eyelash morphology, Abnormality of dental color, Short stature, Aplasia/Hypoplasia of th... |
ORPHA:1006 |
Hypohidrotic Ectodermal Dysplasia |
|
Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, T... |
ORPHA:238468 |
Lowe Oculocerebrorenal Syndrome |
|
Short stature, Osteomalacia, Camptodactyly of finger, Postnatal growth retardation, Kyphosis, Hip... |
OMIM:309000 |
Amelocerebrohypohidrotic Syndrome |
|
Abnormality of dental color, Short stature, Abnormal dental enamel morphology, Yellow-brown disco... |
ORPHA:1946 |
Noonan Syndrome 14 |
|
Epicanthus, Lacrimal duct stenosis, Short stature, Short neck, Sparse eyebrow, High, narrow palat... |
OMIM:619745 |
Cockayne Syndrome Type 3 |
|
Cataract, Mild postnatal growth retardation, Carious teeth, Kyphosis, Flexion contracture, Microc... |
ORPHA:90324 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Iris atrophy, Cataract, Short stature, Recurrent fractures, Kyphoscoliosis, Kyphosis,... |
OMIM:259770 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Short stature, Camptodactyly of finge... |
ORPHA:2311 |
Developmental And Epileptic Encephalopathy 2 |
|
Tapered finger, Thick lower lip vermilion, Small hand, Short foot, Deeply set eye, Scoliosis |
OMIM:300672 |
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1 |
|
Deeply set eye, Broad hallux, Broad thumb |
OMIM:614388 |
Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Congenital hip dislocation, Short stature, Hypertelorism, Carious teeth, Postnatal growth retarda... |
ORPHA:357074 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis |
OMIM:617087 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Joint laxity, Spinal rigidity, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocatio... |
OMIM:254090 |
Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Ectropion of lower eyelids, Oligodontia, Eyelid coloboma, Widely spaced teet... |
OMIM:615873 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Joint laxity, Mandibular prognathia, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Hypert... |
ORPHA:457359 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Osteoporosis, Scoliosis |
OMIM:618234 |
Marinesco-Sjogren Syndrome |
|
Short metacarpal, Short stature, Coxa valga, Kyphosis, Flexion contracture, Short metatarsal, Dev... |
OMIM:248800 |
Occipital Horn Syndrome |
|
Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Short palm, Large iliac wing, Osteomal... |
ORPHA:198 |
Marden-Walker Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Bifid uvula, Arachnodactyly, Scoliosis, Narr... |
ORPHA:2461 |
Micro Syndrome |
|
Cataract, Short stature, Micrognathia, Joint stiffness, Kyphosis, Microcornea, High palate, Short... |
ORPHA:2510 |
Mend Syndrome |
|
Microretrognathia, Sacral dimple, Cataract, Overlapping toe, Broad hallux, Short stature, Microgn... |
OMIM:300960 |
Atelis Syndrome 2 |
|
Epicanthus, Sacral dimple, Micrognathia, Diastema, Kyphosis, Thick lower lip vermilion, Developme... |
OMIM:620185 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cataract, Short stature, Hyperlordosis, Kyphosis, Short toe, Brachydactyly |
ORPHA:3085 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Deeply set eye |
ORPHA:3044 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Hypertelorism, Kyphosis, Hip dislocation, Wide mouth, Long philtrum |
OMIM:608776 |
Tooth Agenesis, Selective, 4 |
|
Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Tooth agenesis, Short ... |
OMIM:150400 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Rieger anomaly, Hypoplasia of the maxilla, Polycoria, Microcornea, Hypo... |
OMIM:180500 |
Fibromuscular Dysplasia, Multifocal |
|
Dental crowding, Micrognathia, Deeply set eye, High palate, Scoliosis, Malar flattening, Downslan... |
OMIM:619329 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Epicanthus, Congenital hip dislocation, Arachnodactyly, Congenital kyphoscoliosis, Ky... |
ORPHA:536545 |
Aymé-Gripp Syndrome |
|
Oligodontia, Shallow orbits, Clinodactyly of the 5th finger, Megalocornea, Short stature, Tapered... |
ORPHA:1272 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ... |
OMIM:187600 |
Thrombocytopenia 6 |
|
Myelofibrosis, Deeply set eye, Osteoporosis, Hypotelorism |
OMIM:616937 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den... |
OMIM:619503 |
Acro-Renal-Ocular Syndrome |
|
Microcornea, Vertebral segmentation defect, Triphalangeal thumb, Iris coloboma, Hypoplasia of the... |
ORPHA:959 |
Short-Rib Thoracic Dysplasia 12 |
|
Natal tooth, Epicanthus, Hypoplastic scapulae, Median cleft lip, Median cleft lip and palate, Ham... |
OMIM:269860 |
Leber Congenital Amaurosis 9 |
|
Keratoconus |
OMIM:608553 |
Barth Syndrome |
|
Mandibular prognathia, Deeply set eye, Growth delay |
OMIM:302060 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of ton... |
OMIM:613091 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Short stature, Dental crowding, Delayed eruption of primary teeth, Growth delay, Deeply set eye, ... |
OMIM:617799 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Small hand, Cleft palate, Hip dys... |
ORPHA:50 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Epicanthus, Median cleft lip, Short stature, Postaxial polydactyly, Accessory oral frenulum, Post... |
OMIM:617088 |
Mgat2-Cdg |
|
Osteopenia, Dental crowding, Hypertelorism, Kyphosis, Long eyelashes, Scoliosis, Open mouth, Down... |
ORPHA:79329 |
Coffin-Siris Syndrome 1 |
|
Conical tooth, Prominent interphalangeal joints, Hypotelorism, Short philtrum, High palate, Clino... |
OMIM:135900 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Dental crowding, Highly arched eyebrow, Micrognathia, Kyphosis, Increased femoral anteversion, Hi... |
OMIM:619005 |
Cutis Laxa, Autosomal Dominant 3 |
|
Osteopenia, Os odontoideum, Joint laxity, Corneal opacity, Postnatal growth retardation, Hip disl... |
OMIM:616603 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Intrauterine growth retardation |
OMIM:618237 |
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Short stature, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Ge... |
OMIM:615630 |
Alg9-Cdg |
|
Microretrognathia, Thin upper lip vermilion, Telecanthus, Rhizomelia, Micrognathia, Short neck, W... |
ORPHA:79328 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Epicanthus, Sinusitis, Short stature, Kyphoscoliosis, Micrognathia, Hyperlordosis, Hypertelorism,... |
ORPHA:363700 |
Amelogenesis Imperfecta, Type If |
|
Dental enamel pits, Abnormality of dental color, Enamel hypoplasia, Amelogenesis imperfecta |
OMIM:616270 |
Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Deeply set eye, Increased overbite |
OMIM:618504 |
Hypomandibular Faciocranial Dysostosis |
|
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Upslanted palpebral fissure, Pr... |
ORPHA:1790 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Blepharophimosis, Postnatal growth retardation, Cleft palate, Hypoplasia of teeth, Widely spaced ... |
ORPHA:2728 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal tibia morphology, Metaphyseal widening, Abnormal carpal morphology, Abn... |
ORPHA:321 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse eyelashes, Carious teeth, Osteoporosis, Nasolacrimal duct obstruction, Microdontia, Pteryg... |
OMIM:224230 |
Classic Homocystinuria |
|
Cataract, Arachnodactyly, Recurrent fractures, Dental crowding, Joint stiffness, Ectopia lentis, ... |
ORPHA:394 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Osteopenia, Micrognathia, Flexion contracture, High palate, Short philtrum, Shallow orbits, Short... |
OMIM:619127 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short stature, Short long bone, Polydactyly, Scoliosis, Brachydactyly |
OMIM:613819 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Thin bony cortex, Cataract, Osteomalacia, Recurrent fractu... |
ORPHA:1652 |
Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Microretrognathia, Syndactyly, Short stature, Hamartoma of tongue,... |
OMIM:311200 |
Acrorenal-Mandibular Syndrome |
|
Micrognathia, Hemivertebrae, High palate, Hypoplasia of the ulna, Split hand, Split foot, Toe syn... |
OMIM:200980 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Synophrys, Orofacial cleft, Deeply set eye, High palate, Clinodactyly of the 5th finger, Bifid uv... |
OMIM:607872 |
Aicardi Syndrome |
|
Prominence of the premaxilla, Cataract, Block vertebrae, Proximal placement of thumb, Cleft upper... |
OMIM:304050 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Epicanthus, Hypertelorism, Synophrys, Downturned corners of mouth, Wide... |
ORPHA:466943 |
Branchiooculofacial Syndrome |
|
Proximal placement of thumb, Micrognathia, Short neck, Clinodactyly of the 5th finger, Iris colob... |
OMIM:113620 |
Brachyolmia Type 3 |
|
Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Childhood-onset short-trunk shor... |
OMIM:113500 |
Alg12-Cdg |
|
Thin upper lip vermilion, Epicanthus, Sandal gap, Proximal placement of thumb, Micrognathia, Long... |
ORPHA:79324 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Tented upper lip vermilion, Rocker bottom foot, Microgna... |
ORPHA:521426 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Thin upper lip vermilion, Epicanthus, Hypertelorism, Synophrys, Wide mouth, Deeply set eye, Long ... |
ORPHA:466950 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha... |
OMIM:250220 |
Mucolipidosis Type Ii |
|
Hip contracture, Epicanthus, Short stature, Craniosynostosis, Limited wrist movement, Postnatal g... |
ORPHA:576 |
Porphyria, Congenital Erythropoietic |
|
Osteopenia, Absent eyebrow, Erythrodontia, Short stature, Loss of eyelashes, Osteolysis, Corneal ... |
OMIM:263700 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Sclerocornea, Micrognathia,... |
OMIM:216340 |
Kid Syndrome |
|
Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Patellar hypoplasia, Knee flexion co... |
ORPHA:477 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Postnatal growth reta... |
OMIM:612199 |
Lelis Syndrome |
|
Mandibular prognathia, Carious teeth, Absent lower eyelashes, Furrowed tongue, Upslanted palpebra... |
ORPHA:140936 |
Jalili Syndrome |
|
Abnormality of dental color, Abnormal dental enamel morphology, Amelogenesis imperfecta |
ORPHA:1873 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Deeply set eye |
ORPHA:521390 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, High, narrow palate, Synophrys, Abnormal curvature of the vertebral column, Deeply set... |
OMIM:619475 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Joint laxity, Epicanthus, Short stature, Highly arched eyebrow, Short neck, Postnatal growth reta... |
OMIM:613563 |
Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Corneal opacity, Ankle flexion contracture, Tapered finger, Kyphosis, Short toe, Short foot, Birt... |
ORPHA:464311 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Corneal opacity, Shor... |
ORPHA:464306 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Arachnodactyly, Micrognathia, Hypertelorism, Narrow palpebral fissu... |
OMIM:614437 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Keratoconus, Conjunctivitis, Short stature |
OMIM:242150 |
Ectodermal Dysplasia And Immunodeficiency 1 |
|
Conical incisor |
OMIM:300291 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Long fingers... |
OMIM:617527 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Hypertelorism, Kyphosis, Cone-shaped epiphyses o... |
ORPHA:420794 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macrog... |
OMIM:606612 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Increased density of long bones, Short neck, Wide distal femoral metaphy... |
OMIM:269150 |
Incisors, Lower Central, Absence Of |
|
Agenesis of mandibular central incisor |
OMIM:147330 |
Central Incisors, Absence Of |
|
Agenesis of central incisor |
OMIM:302400 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Deeply set eye, Astigmatism, Dental crowding, Short philtrum |
OMIM:617296 |
Thauvin-Robinet-Faivre Syndrome |
|
Epicanthus, Bowing of the legs, Hypertelorism, Macroglossia, Deeply set eye, Thick vermilion bord... |
OMIM:617107 |
Lopes-Maciel-Rodan Syndrome |
|
Short foot, Kyphosis, Small hand, Scoliosis |
OMIM:617435 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Delayed eruption of teeth, Finger syndactyly, Absent lacrimal punctum, Sparse eyelashes, Abnormal... |
ORPHA:1071 |
Bloom Syndrome |
|
Syndactyly, Postnatal growth retardation, Agenesis of maxillary lateral incisor, Growth delay, Ha... |
OMIM:210900 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Joint laxity, Short stature, Rickets, Reduced bone mineral density, Growth delay, Hyp... |
OMIM:613658 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Osteopenia, Thin upper lip vermilion, Abnormal eyebrow morphology, Lumbar hyperlordosis, Sparse e... |
ORPHA:2232 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Abnormal pupil morphology, Calcaneoval... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:261537 |
Distal Deletion 15Q |
|
Micrognathia, 2-3 toe cutaneous syndactyly, Generalized joint laxity, Finger clinodactyly, Short ... |
ORPHA:1596 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Thin upper lip vermilion, Short stature, Almond-shaped palpebral fissure, Kyphosis, F... |
ORPHA:398069 |
Kagami-Ogata Syndrome |
|
Pursed lips, Kyphoscoliosis, Micrognathia, Coxa valga, Short neck, Postnatal growth retardation, ... |
ORPHA:254519 |
Kilquist Syndrome |
|
Mandibular prognathia, Coxa valga, 2-3 toe syndactyly, Hypoplasia of teeth, Wide mouth |
OMIM:619080 |
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome |
|
Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl... |
ORPHA:2975 |
Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Eyelid coloboma, High palate... |
OMIM:268300 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Conjunctivitis, Abnormal vertebral morphology, Absent eyebrow, Abnorm... |
ORPHA:2273 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Hypoplasia of eyelid, Cleft soft palate, Short stature, Flexion contracture, Genu valgum, Downtur... |
OMIM:619321 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
1P36 Deletion Syndrome |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Short stature, Camptodactyly of finger, Joint ... |
ORPHA:1606 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Growth delay, G... |
ORPHA:77259 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Keratoconus, Short stature, Foot acroosteolysis, Osteolytic defects of the phalanges of the hand,... |
OMIM:130050 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Short ... |
OMIM:619479 |
Cerebrocostomandibular Syndrome |
|
Short stature, Tracheomalacia, Micrognathia, Kyphosis, Cleft palate, Glossoptosis, Clinodactyly o... |
ORPHA:1393 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Microretrognathia, Epicanthus, Growth delay, Deeply set eye, High palate, Joint hypermobility |
OMIM:619418 |
Odontomicronychial Dysplasia |
|
Carious teeth, Premature eruption of permanent teeth, Premature loss of primary teeth, Abnormalit... |
ORPHA:1811 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, High pal... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, High pal... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, High pal... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Micrognathia, Short neck, High, narrow palate, Reduced bone mineral density, High pal... |
ORPHA:881 |
Viss Syndrome |
|
Micrognathia, High, narrow palate, Generalized joint laxity, Deeply set eye, High palate, Broad u... |
OMIM:619472 |
Occipital Horn Syndrome |
|
Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Kyphosis,... |
OMIM:304150 |
Shwachman-Diamond Syndrome |
|
Osteopenia, Delayed eruption of teeth, Osteomyelitis, Sinusitis, Short stature, Carious teeth, Me... |
ORPHA:811 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contracture, Long palpebral fis... |
OMIM:603387 |
Gm1 Gangliosidosis Type 1 |
|
Gingival overgrowth, Hypoplastic vertebral bodies, Macroglossia, Flared iliac wing, Short long bo... |
ORPHA:79255 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Joint laxity, Dental crowding, Kyphoscoliosis, High, narrow palate, Narrow mouth, ... |
OMIM:300967 |
Proteus Syndrome |
|
Central heterochromia, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinoda... |
ORPHA:744 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Epicanthus, Short stature, Short neck, Hypertelorism, Cleft lip, Kyphosis, Hemivertebrae, Narrow ... |
OMIM:618223 |
Rett Syndrome |
|
Short stature, Abnormality of the dentition, Kyphosis, Short foot, Scoliosis |
OMIM:312750 |
Atypical Rett Syndrome |
|
Kyphosis, Small hand, Short foot, Growth delay, Scoliosis |
ORPHA:3095 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Cleft upper lip, Micrognathia, Kyphosis, Cleft palate, Corneal ulceration, Conjunctivi... |
OMIM:153400 |
Charge Syndrome |
|
Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Abnormality of bone mineral density, C... |
ORPHA:138 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Dental crowding, Cleft hard palate, Calcaneovalgus deformity, Flexion cont... |
ORPHA:2152 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Entropion, Cataract, Kyphoscoliosis, Hypertelorism, Hip dislocation, Hip dysplasia, Camptodactyly... |
OMIM:617403 |
Gm1-Gangliosidosis, Type I |
|
Severe short stature, Short neck, Joint stiffness, Kyphosis, Hypertelorism, Gingival overgrowth, ... |
OMIM:230500 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short neck, Hemivertebrae, Reduced bone mineral density, Vertebr... |
ORPHA:2911 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Corneal opacity, Camptodactyly of finger, Abnormal dental enamel morphology, P... |
ORPHA:2908 |
Sialidosis Type 1 |
|
Cataract, Corneal opacity, Short stature, Kyphosis, Thick lower lip vermilion, Abnormal form of t... |
ORPHA:812 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Hyperlordosis, Metatarsus adductus, Kyphosis, Small hand, Hip dysplasia, Scoliosis, Clinodactyly |
OMIM:181405 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Palpebral edema, Narrow mouth, Thick lower lip vermilion, Mesiodens, Deeply set eye, Long philtrum |
ORPHA:314647 |
Microphthalmia, Syndromic 1 |
|
Dental crowding, High, narrow palate, Orofacial cleft, Microcornea, High palate, Prominent finger... |
OMIM:309800 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Joint hyperflexibility, Kyphosis |
ORPHA:319199 |
Ramon Syndrome |
|
Delayed eruption of teeth, Short stature, Kyphosis, Gingival fibromatosis, Narrow palate, Axenfel... |
OMIM:266270 |
Sandhoff Disease |
|
Kyphosis |
ORPHA:796 |
Craniofacial Microsomia 1 |
|
Block vertebrae, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Partial duplication of... |
OMIM:164210 |
Osteopetrosis, Autosomal Recessive 7 |
|
Abnormal trabecular bone morphology, Femur fracture, Growth delay, Proptosis, Osteopetrosis |
OMIM:612301 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures |
ORPHA:85193 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Arachnodactyly, Narrow mouth |
ORPHA:261222 |
Stormorken Syndrome |
|
Deeply set eye, Short philtrum, Short stature, Hypotelorism |
OMIM:185070 |
Jaberi-Elahi Syndrome |
|
Cataract, Sparse eyelashes, Joint stiffness, Sparse eyebrow, Kyphosis, Scoliosis, Triangular mout... |
OMIM:617988 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Cataract, Short stature, Hypertelorism, Submucous cleft hard palate, C... |
OMIM:235730 |
Acromegaly |
|
Mandibular prognathia, Broad jaw, Palpebral edema, Macrodactyly, Tapered finger, Abnormality of t... |
ORPHA:963 |
Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Posterior embryotoxon, Cataract, Band keratopathy, Hypertelorism, Hemiver... |
OMIM:118450 |
Somatomammotropinoma |
|
Mandibular prognathia, Broad jaw, Palpebral edema, Macrodactyly, Tapered finger, Abnormality of t... |
ORPHA:314769 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Scoliosis |
ORPHA:101075 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Deeply set eye, Short stature |
ORPHA:3204 |
Multiple Endocrine Neoplasia, Type Iib |
|
Joint laxity, Hyperlordosis, High, narrow palate, Kyphosis, Thick lower lip vermilion, High palat... |
OMIM:162300 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Calcaneovalgus deformity, Prominent fingertip pads, Joint laxity, Arachnodactyly, Abnormal dental... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Calcaneovalgus deformity, Prominent fingertip pads, Joint laxity, Arachnodactyly, Abnormal dental... |
ORPHA:363958 |
Isolated Cleft Lip |
|
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... |
ORPHA:199302 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Kyphosis, Knee flexion contracture, Overlapping fingers, Absent uvula |
OMIM:619708 |
Becker Nevus Syndrome |
|
Kyphosis, Abnormal tibia morphology, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Short stature, Kyphosis, Genu varum, Scoliosis, Short hard palate, Ptosis |
ORPHA:1969 |
Srd5A3-Cdg |
|
Kyphosis, Oligodontia, Cataract, Abnormal sacrum morphology |
ORPHA:324737 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Scoliosis, Ptosis |
OMIM:610743 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Femoral bowing, Short long bone,... |
OMIM:618188 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Alstrom Syndrome |
|
Short stature, Abnormality of the dentition, Kyphosis, Gingivitis, Hyperostosis frontalis interna... |
OMIM:203800 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Intrauterine growth retardation, Short stature, Deeply set eye, Hypertelorism |
ORPHA:423479 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Thin upper lip vermilion, Natal tooth, Epicanthus, Broad hallux, Thoracic scoliosis, Short statur... |
OMIM:620186 |
Kabuki Syndrome 1 |
|
Congenital hip dislocation, Micrognathia, High palate, Prominent fingertip pads, Abnormal vertebr... |
OMIM:147920 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Scoliosis |
ORPHA:101078 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Scoliosis |
OMIM:607155 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Growth delay, Deeply set eye, Hypertelorism |
ORPHA:280229 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Epicanthus, Overlapping toe, Arachnodactyly, Micrognathia, Postnatal growth retardation, Contract... |
ORPHA:83617 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Short stature, Submucous cleft hard palate, Flexion contracture, Deeply set eye, Delayed puberty,... |
OMIM:618891 |
Peters Plus Syndrome |
|
Micrognathia, Short neck, Microcornea, Widely spaced teeth, Clinodactyly of the 5th finger, Spina... |
ORPHA:709 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Short neck, Hyperlordosis, Achilles tendon contracture, Kyphosis, Elb... |
ORPHA:98863 |
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Keratoconus |
ORPHA:542306 |
Neurofibromatosis Type 1 |
|
Cataract, Corneal opacity, Recurrent fractures, Short stature, Joint stiffness, Abnormal eyelid m... |
ORPHA:636 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Cataract, Scoliosis |
OMIM:614409 |
Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Cataract, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger |
ORPHA:88628 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Joint hyperflexibility, Kyphosis |
OMIM:614898 |
Intellectual Developmental Disorder, Autosomal Dominant 38 |
|
Epicanthus, Tented upper lip vermilion, Downturned corners of mouth, Deeply set eye, High palate,... |
OMIM:616393 |
Ulbright-Hodes Syndrome |
|
Short humerus, Short metacarpal, Micrognathia, Short neck, Postnatal growth retardation, Humerora... |
ORPHA:3404 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Severe short stature, Wide anterior fontanel, Kyphosis, Disprop... |
OMIM:616482 |
Cowden Syndrome |
|
Cataract, Short stature, Kyphosis, Bone cyst, Furrowed tongue, Macroglossia, High palate, Scolios... |
ORPHA:201 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity... |
ORPHA:98853 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Downturned corners of mouth, High palate, Clinodactyly of the 5th finger, Short stature, Tapered ... |
OMIM:619522 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Short stature, Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:500055 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Kyphosis, High palat... |
OMIM:619244 |
D-Glyceric Aciduria |
|
Growth delay, Deeply set eye |
OMIM:220120 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity, Ptosis |
OMIM:615084 |
Alg1-Cdg |
|
Kyphosis, Limitation of joint mobility, Scoliosis |
ORPHA:79327 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Deeply set eye, Shallow anterior chamber |
OMIM:305390 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Joint stiffness, Hyperlordosis, Kyphosis, Achilles tendon contracture, Spinal rigidity... |
ORPHA:98855 |
Alexander Disease |
|
Osteopenia, Hyperlordosis, Short neck, Kyphosis, High palate, Scoliosis, Ptosis |
ORPHA:58 |
Holoprosencephaly 7 |
|
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Hype... |
OMIM:610828 |
Mental Retardation, Keratoconus, Febrile Seizures, And Sinoatrial Block |
|
Keratoconus |
OMIM:609438 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short lon... |
OMIM:615503 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Elbow flexion contracture |
OMIM:618138 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity, Ptosis |
ORPHA:352447 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:219080 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610475 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Micrognathia, Hypertelorism, Cleft lip, Cleft palate, Deeply set eye, Retrognathia, Butterfly ver... |
OMIM:265380 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Kyphosis, Scoliosis |
ORPHA:99014 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Median cleft lip, Hamartoma of tongue, Preaxial hand polydactyly, Postaxial hand polydactyly, Cle... |
OMIM:263520 |
Fucosidosis |
|
Kyphosis, Corneal opacity, Anterior beaking of lumbar vertebrae, Abnormality of the dentition |
ORPHA:349 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Thin upper lip vermilion, Almond-shaped palpebral fissure, Kyphosis, Flexion contracture |
OMIM:212065 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue atrophy, Kyphosis, Tongue fasciculations, Scoliosis, Ptosis |
OMIM:211530 |
Postencephalitic Parkinsonism |
|
Bilateral ptosis, Open mouth, Camptocormia, Kyphosis |
ORPHA:97349 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Arthrogryposis multiplex congenita, Kyphosis, Scoliosis, Ptosis |
OMIM:617143 |
Aspartylglucosaminuria |
|
Joint laxity, Cataract, Short stature, Kyphosis, Hypoplastic frontal sinuses, Thick lower lip ver... |
OMIM:208400 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Syndactyly, Short stature, Postaxial polydactyly, Hypertelorism, Broad first metatars... |
OMIM:619534 |
Holoprosencephaly 2 |
|
Aplasia of the premaxilla, Cyclopia, Submucous cleft hard palate, Absent nasal septal cartilage, ... |
OMIM:157170 |
Pelizaeus-Merzbacher Disease |
|
Kyphosis, Short stature, Scoliosis, Joint stiffness |
ORPHA:702 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Multiple joint contractures, Hyperlordosis, Kyphosis, Blepharospasm, Scoliosis |
OMIM:128100 |
Microcephaly 29, Primary, Autosomal Recessive |
|
Deeply set eye, Thick eyebrow, Hypoplastic philtrum |
OMIM:620047 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Osteoporosis, Biconcave vertebral bodies |
OMIM:219090 |
Aplasia Of Lacrimal And Salivary Glands |
|
Carious teeth, Absent lacrimal punctum, Lacrimal gland aplasia, Lacrimal gland hypoplasia |
OMIM:180920 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Osteopenia, Kyphosis, Osteoporosis |
OMIM:610489 |
Sotos Syndrome |
|
Joint laxity, Hip contracture, Sacrococcygeal teratoma, Cataract, Ankle flexion contracture, Cran... |
ORPHA:821 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Widely spaced teeth |
OMIM:300942 |
Enamel-Renal Syndrome |
|
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Gingiv... |
ORPHA:1031 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis |
OMIM:106300 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Flexion contracture, Scoliosis |
OMIM:609541 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis |
ORPHA:500180 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Limited hip move... |
OMIM:203500 |
Alström Syndrome |
|
Abnormality of dental color, Thoracic scoliosis, Cataract, Short stature, Kyphosis, Short toe, Po... |
ORPHA:64 |
Cholera |
|
Deeply set eye |
ORPHA:173 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
High, narrow palate, Kyphosis, High palate, Scoliosis |
OMIM:177850 |
Autosomal Recessive Ataxia, Beauce Type |
|
Kyphosis, Scoliosis, Ptosis |
ORPHA:88644 |
Shprintzen Omphalocele Syndrome |
|
Epicanthus, Lumbar hyperlordosis, Short stature, Kyphosis, Thin vermilion border, Scoliosis |
OMIM:182210 |
Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Kyphosis, Scoliosis |
OMIM:613454 |
Triosephosphate Isomerase Deficiency |
|
Kyphosis |
OMIM:615512 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Astigmatism, Scoliosis |
OMIM:619482 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Kyphosis |
ORPHA:171629 |