Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

SH3 and PX domains 2B
G431001E03Rik,  Fad49,  Tks4

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Sh3pxd2b mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Sh3pxd2b by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Sh3pxd2b by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Proptosis, Short long bone, Flared metap... OMIM:601561
Mucolipidosis Type Iii
Hyperlordosis, Large iliac wing, Abnormal form of the vertebral bodies, Craniofacial hyperostosis... ORPHA:577
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cerebral atrophy, Proptosis, Cataract, Cerebellar atrophy, Microcornea, Microcep... OMIM:616171
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Infertility, Cataract, Hearing impairment, Rod-cone dystrophy OMIM:300719
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Attenua... ORPHA:179
Microcornea, Myopic Chorioretinal Atrophy, And Telecanthus
Posteriorly rotated ears, Posterior subcapsular cataract, Chorioretinal degeneration, Microcornea... OMIM:615458
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... OMIM:309300
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Slender build, Slender long bones with narrow diaphyses, Dense metaphyseal bands, Small for gesta... ORPHA:50811
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Conductive hearing impairment, Atypical scarrin... ORPHA:791
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Split hand, Hirsutism, Corneal... OMIM:259600
Frank-Ter Haar Syndrome
Scoliosis, Delayed eruption of teeth, Camptodactyly of finger, Short philtrum, Hypertelorism, Bea... ORPHA:137834
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Camptoda... OMIM:113000
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Genu valgum, Congenital generalized lipodystrophy, Sparse facial hair, Slender lon... OMIM:608154
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Small epiphyses, High palate, Short femoral neck, Advanced ossification... OMIM:618363
Multiple Epiphyseal Dysplasia With Robin Phenotype
Scoliosis, Metatarsus adductus, Prominent proximal interphalangeal joints, Short femoral neck, Mi... OMIM:601560
Stickler Syndrome Type 1
Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis morphology, Abnormality of epiph... ORPHA:90653
Ehlers-Danlos Syndrome, Classic-Like, 2
Squared iliac bones, Short neck, Cellulitis, Mitral valve prolapse, Low posterior hairline, Atrop... OMIM:618000
Frank-Ter Haar Syndrome
Wormian bones, Short phalanx of finger, Camptodactyly, Metatarsus adductus, Double outlet right v... OMIM:249420
Acrocapitofemoral Dysplasia
Scoliosis, Flared iliac wing, Ovoid vertebral bodies, Short distal phalanx of finger, Cone-shaped... OMIM:607778
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hip dysplasia, Carious teeth, Hyperlordosis, Metaphyseal chondrodysplasia, Disproporti... ORPHA:2501
Classic Multiminicore Myopathy
Scoliosis, Hip dysplasia, Right ventricular failure, Increased muscle lipid content, Microretrogn... ORPHA:324604
Dental Anomalies And Short Stature
Platyspondyly, Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Herniation of interve... OMIM:601216
Hearing impairment, Cherry red spot of the macula, Corneal opacity ORPHA:351
Oculofaciocardiodental Syndrome
Scoliosis, Oligodontia, Flexion contracture of the 2nd toe, Iris coloboma, Solitary median maxill... ORPHA:2712
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Scoliosis, Hip dysplasia, Thin vermilion border, Narrow mouth, Abnormal form of the vertebral bod... ORPHA:2370
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:601813
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract, Abnormality of the antihelix, Hearing impairment OMIM:274205
Autosomal Dominant Keratitis
Aniridia, Macular hypoplasia, Cataract, Keratitis, Microcornea, Opacification of the corneal stro... ORPHA:2334
Neovascular Glaucoma
Retinal vein occlusion, Abnormal posterior eye segment morphology, Ocular hypertension, Iris neov... ORPHA:94058
Anterior Segment Dysgenesis 5
Developmental cataract, Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Peters ano... OMIM:604229
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Uveal ectropion, Corneal opacity, Ectopia pupillae, Corneal stromal ... ORPHA:98973
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Midfac... OMIM:118651
Elsahy-Waters Syndrome
Mandibular prognathia, Megalocornea, High palate, Broad philtrum, Hypoplasia of the maxilla, Long... OMIM:211380
Retinitis Pigmentosa 25
Attenuation of retinal blood vessels, Chorioretinal atrophy, Posterior subcapsular cataract, Bone... OMIM:602772
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Convex nasal ridge, Contracture of the proximal interphalangeal joint of the 5th finger, Decrease... ORPHA:293967
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Achilles tendon contracture, Cerebellar atrophy, Sensorineural hearing impairment, Subcapsular ca... OMIM:612674
Chondrodysplasia, Grebe Type
Hypoplasia of the radius, Postaxial hand polydactyly, Short femur, Short phalanx of finger, Flexi... OMIM:200700
Multiple Epiphyseal Dysplasia, Lowry Type
Scoliosis, Genu valgum, Hypertelorism, Elbow dislocation, Rhizomelia, Cleft palate, Flattened epi... ORPHA:166016
Microphthalmia, Syndromic 2
Scoliosis, Oligodontia, Iris coloboma, Sandal gap, Hammertoe, Dextrocardia, Contracture of the pr... OMIM:300166
Leber Congenital Amaurosis 8
Keratoconus, Choriocapillaris atrophy, Cataract, Deeply set eye OMIM:613835
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor OMIM:615434
Brittle Cornea Syndrome 1
Scoliosis, Keratoconus, Decreased corneal thickness, Congenital hip dislocation, Mitral valve pro... OMIM:229200
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Ocular hypertension OMIM:618880
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Large iliac wing, Large fontanelles, Mandibular prognathia, Abnormality of the metacar... ORPHA:2511
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy,... OMIM:613581
Contractural Arachnodactyly, Congenital
Scoliosis, Camptodactyly, Metatarsus adductus, Congenital kyphoscoliosis, Wrist flexion contractu... OMIM:121050
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Leber Congenital Amaurosis 1
Keratoconus, Pigmentary retinopathy, Cataract, Sensorineural hearing impairment, Fundus atrophy OMIM:204000
Retinitis Pigmentosa 14
Posterior subcapsular cataract, Retinal arteriolar constriction, Bone spicule pigmentation of the... OMIM:600132
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Geographic atrophy, Bone spicule pigmentation of the retina, Rod-... OMIM:180105
Frontometaphyseal Dysplasia 1
Scoliosis, Hirsutism, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contractur... OMIM:305620
Limited elbow extension, Frontal bossing, Childhood onset short-limb short stature, Aplasia/hypop... OMIM:146000
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Arthrogryposis multiplex congenita, Gliosis, Camptodactyly, Deeply set eye, Catarac... OMIM:214150
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Cataract, Hearing impairment, Abnormality of th... ORPHA:65
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Pigmentary retinopathy, Fundus atrophy OMIM:204100
Retinitis Pigmentosa 83
Asteroid hyalosis, Attenuation of retinal blood vessels, Cystoid macular edema, Vitreous floaters... OMIM:618173
Leber Congenital Amaurosis 4
Macular atrophy, Keratoconus, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Opti... OMIM:604393
Retinitis Pigmentosa 23
Posterior subcapsular cataract, Rod-cone dystrophy OMIM:300424
Syndactyly Type 4
6 metacarpals, Camptodactyly of finger, Hand polydactyly, Toe syndactyly, 1-5 finger syndactyly, ... ORPHA:93405
Idiopathic Anterior Uveitis
Nuclear cataract, Posterior subcapsular cataract, Increased cup-to-disc ratio, Posterior synechia... ORPHA:280914
Progeroid Syndrome, Petty Type
Shagreen patch, Wide anterior fontanel, Sparse hair, Abnormal hair morphology, Lipoatrophy, Long ... ORPHA:2963
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Vitreous hemorrhage, Recurrent fractures, Re... OMIM:133780
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Bon... OMIM:613810
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Hypergonadotropic hypogonadism, Cerebral atrophy, Cerebellar atrophy, Sec... OMIM:268020
Premature Aging Syndrome, Penttinen Type
Scoliosis, Wormian bones, Sparse hair, Thin calvarium, Midface retrusion, Lipoatrophy, Proptosis,... OMIM:601812
Polyvalvular Heart Disease Syndrome
Short philtrum, Arrhythmia, Dental crowding, Abnormal heart valve morphology, High palate, Tricus... ORPHA:228410
Retinitis Pigmentosa 72
Posterior subcapsular cataract, Peripapillary atrophy, Rod-cone dystrophy, Optic disc pallor OMIM:616469
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Platyspondyly, Anisospondyly, Wide anterior fontanel, Fron... ORPHA:163649
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Flexion contracture, Short neck OMIM:168400
Mucopolysaccharidosis, Type Iva
Scoliosis, Carious teeth, Constricted iliac wing, Mandibular prognathia, Ovoid vertebral bodies, ... OMIM:253000
Noonan Syndrome 13
Scoliosis, Broad eyebrow, Metatarsus adductus, Hypertrichosis, High palate, Mitral valve prolapse... OMIM:619087
Rhizomelic Syndrome, Urbach Type
Triphalangeal thumb, Abnormality of the knee, Preaxial hand polydactyly, Wide anterior fontanel, ... ORPHA:3098
Optic Atrophy 3, Autosomal Dominant
Cataract, Hearing impairment, Optic atrophy, Optic disc pallor OMIM:165300
Cohen Syndrome
Scoliosis, Open mouth, Iris coloboma, Aplasia/Hypoplasia of the tongue, Sandal gap, Slender toe, ... ORPHA:193
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal atrophy, Cataract, Chorioretinal degeneration, Hearing... ORPHA:414
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Obesity, Short proximal p... ORPHA:15
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormality of retinal pigmentation, Abnormal macular morphology, Optic disc drusen, Attenuation ... ORPHA:364055
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Rod-cone dystrophy, Optic disc pallor OMIM:615233
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Multiple joint dislocation, Craniosynostosis, Narrow mouth, Sandal gap, Shoulder dislo... OMIM:245600
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Frontal bossing, Micrognathia, Pes planus, Down-sloping shoulders, Lipod... OMIM:616200
Fibrochondrogenesis 1
Camptodactyly, Omphalocele, Hypoplastic ischia, Narrow greater sciatic notch, Short neck, Posteri... OMIM:228520
Distal Monosomy 6P
Hypertelorism, Underdeveloped nasal alae, Anterior synechiae of the anterior chamber, Posterior e... ORPHA:96125
Leber Congenital Amaurosis 6
Attenuation of retinal blood vessels, Keratoconus, Cataract OMIM:613826
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Disproportionate short stature, Dental crowding, Abnormal heart valve morphology, High palate, Ab... ORPHA:2868
Scoliosis, Wormian bones, Delayed eruption of primary teeth, Carious teeth, Osteolytic defects of... OMIM:265800
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Flexion contracture, Proptosis, Failure to thrive, Flattened epiphysis, Abnormalit... ORPHA:157965
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Sensorin... ORPHA:1473
Pressure-Induced Localized Lipoatrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90160
Cohen Syndrome
Genu valgum, Cubitus valgus, Short philtrum, Short metatarsal, Facial hypotonia, Open mouth, Macr... OMIM:216550
Acrocallosal Syndrome
Postaxial hand polydactyly, Hypertelorism, Wide anterior fontanel, Inguinal hernia, Prominent occ... ORPHA:36
Saul-Wilson Syndrome
Platyspondyly, Talipes equinovarus, Short metatarsal, Wide anterior fontanel, Proptosis, Short di... OMIM:618150
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Frontal bossing, Biconcave... OMIM:259420
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Hyperlordosis, Short philtrum, Tooth malposition, Low posterior hairline, Hypotelorism... ORPHA:1387
Gillessen-Kaesbach-Nishimura Syndrome
Frontotemporal hypertrichosis, Hypertelorism, Wide anterior fontanel, Micrognathia, Flexion contr... OMIM:263210
Mucopolysaccharidosis Type 4
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Corneal opacity, Grayish enamel, Abn... ORPHA:582
Mucopolysaccharidosis, Type Ivb
Scoliosis, Carious teeth, Constricted iliac wing, Mandibular prognathia, Ovoid vertebral bodies, ... OMIM:253010
Multiple Synostoses Syndrome 3
Cutaneous syndactyly of toes, Humeroradial synostosis, Broad thumb, Hallux varus, Metacarpal syno... OMIM:612961
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Ventricular hypertrophy, Atrial septal defect, Hypertelorism, Ventricular se... OMIM:612561
Nestor-Guillermo Progeria Syndrome
Scoliosis, Osteolytic defects of the distal phalanges of the hand, Delayed closure of the anterio... OMIM:614008
Brittle Cornea Syndrome
Osteoporosis, Decreased corneal thickness, Corneal erosion, Conductive hearing impairment, Joint ... ORPHA:90354
Cornelia De Lange Syndrome
Thin vermilion border, Downturned corners of mouth, Elbow dislocation, Delayed puberty, Congenita... ORPHA:199
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Overtubulated long bones, Wide anterior fontanel, Thin calvarium, Curly hair, Prop... ORPHA:85184
Peters Anomaly
Developmental glaucoma, Peters anomaly, Opacification of the corneal stroma, Subcapsular cataract... ORPHA:708
Uveal Melanoma
Inferior lens subluxation, Ocular hypertension, Mydriasis, Inflammatory abnormality of the eye, R... ORPHA:39044
Chromosome 16Q22 Deletion Syndrome
Hip dysplasia, Wormian bones, Highly arched eyebrow, Hypertelorism, Wide anterior fontanel, Front... OMIM:614541
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Lumbar platyspondyly, Short femur, Lytic defects of humeral diaphysis, ... OMIM:601376
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Synostosis of carpal bones, Abnormal f... ORPHA:3238
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis
Progressive loss of facial adipose tissue, Lipodystrophy, Loss of subcutaneous adipose tissue fro... OMIM:613913
Marfanoid-Progeroid-Lipodystrophy Syndrome
Craniosynostosis, Mitral valve prolapse, High palate, High, narrow palate, Generalized lipodystro... OMIM:616914
Aniridia 1
Aniridia, Anterior subcapsular cataract, Corneal erosion, Macular agenesis, Ectopia lentis, Chori... OMIM:106210
Growth Factors, Combined Defect Of
Pes planus, Lipodystrophy, Flexion contracture, Reduced subcutaneous adipose tissue, Plantar hype... OMIM:233805
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Progressive flexion contractures, Macrotia, Proptosis, Cataract, Cerebral cortical atrophy, Protr... OMIM:617481
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Corneal opacity, Cataract, Sensorineural hearing impairment, ... ORPHA:90654
Axial Spondylometaphyseal Dysplasia
Hypertelorism, Short nose, Proptosis, Astigmatism, Optic atrophy, Anteverted nares, Rod-cone dyst... ORPHA:168549
Rhizomelic Chondrodysplasia Punctata, Type 3
Epiphyseal stippling, Short femur, Rhizomelia, Short humerus, Failure to thrive OMIM:600121
Corneal Dystrophy-Perceptive Deafness Syndrome
Sensorineural hearing impairment, Corneal opacity, Corneal dystrophy ORPHA:1490
Anauxetic Dysplasia 3
Platyspondyly, Genu valgum, Hip subluxation, Squared iliac bones, Wide anterior fontanel, Midface... OMIM:618853
Deafness-Hypogonadism Syndrome
Progressive sensorineural hearing impairment, Enlarged cochlear aqueduct, Abnormality of the midd... ORPHA:90646
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Long philtrum, Hypertelorism, Narrow mouth, Frontal bossing, Dental crowding, Midface retrusion, ... OMIM:615539
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Scoliosis, Lipoatrophy, Small hand, Short foot, Micrognathia, Fine hair ORPHA:2500
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Ocular hypertension OMIM:613517
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Ventricular septal defect, Cataract, Iris atrophy, Absent anterior chamber of the ... OMIM:259770
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Truncal obesity, Childhood-onset truncal obesity, Retinal dystrophy OMIM:610156
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Disproportionate short stature, Frontal bossing, Abnormal form of the v... ORPHA:40
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Lipoatrophy, Loss of gluteal subcutaneous adipose tissue, Reduced su... ORPHA:280356
Scoliosis, Hip dysplasia, Open bite, Macroglossia, Hypertelorism, Narrow palate, Synostosis of jo... ORPHA:61
Pelviscapular Dysplasia
Humeroradial synostosis, Short femur, Short neck, Congenital hip dislocation, Frontal bossing, Lo... ORPHA:93333
X-Linked Intellectual Disability, Najm Type
Chorioretinal coloboma, Hypertelorism, Macrotia, Wide nasal bridge, Cataract, Cerebral cortical a... ORPHA:163937
Osteogenesis Imperfecta, Type Viii
Scoliosis, Wormian bones, Platyspondyly, Radial bowing, Wide anterior fontanel, Externally rotate... OMIM:610915
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Scoliosis, Congenital foot contractures, Arthrogryposis multiplex congenita, Scapular winging, Lu... OMIM:602484
Intermediate Uveitis
Macular scar, Vitreous haze, Cystoid macular edema, Vitreous snowballs, Epiretinal membrane, Opti... ORPHA:279914
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Narrow mouth, Phalangeal dislocation, Broad first metatarsal, Sandal... OMIM:251450
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Beaking of vertebral bodies, Midface retrusion, Kyphosis, Pierre-Robin ... OMIM:108300
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Sandal gap, Flat acetabular roof, Short... OMIM:256050
Gyrate Atrophy Of Choroid And Retina
Posterior subcapsular cataract, Chorioretinal atrophy OMIM:258870
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small thenar eminence, Long philtrum, Small hypothenar eminence, Hypertelorism, Camptodactyly, In... OMIM:211960
Drug-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90157
Brittle Cornea Syndrome 2
Keratoconus, Joint hypermobility, Decreased corneal thickness, Keratoglobus, Recurrent fractures,... OMIM:614170
Mental Retardation, Autosomal Dominant 23
Scoliosis, Hyperlordosis, Broad distal phalanx of finger, Long philtrum, Low anterior hairline, D... OMIM:615761
Vernal Keratoconjunctivitis
Scarring, Abnormal conjunctiva morphology, Punctate keratitis, Abnormal cornea morphology, Cornea... ORPHA:70476
Winchester Syndrome
Osteolysis involving bones of the upper limbs, Osteolysis involving bones of the feet, Corneal op... OMIM:277950
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Ocular hypertension, Microcornea OMIM:602499
Anauxetic Dysplasia 2
Hyperlordosis, Cubitus valgus, Macroglossia, Hypoplasia of the femoral head, Sparse hair, Midface... OMIM:617396
Donnai-Barrow Syndrome
Hypertelorism, Short nose, Wide anterior fontanel, Iris coloboma, Omphalocele, Umbilical hernia, ... ORPHA:2143
Hydrocephalus-Obesity-Hypogonadism Syndrome
Cubitus valgus, Short 4th metacarpal, Low posterior hairline, Sparse facial hair, Absent facial h... ORPHA:2183
Neurofibromatosis, Type Ii
Peripheral Schwannoma, Vertigo, Bilateral vestibular Schwannoma, Retinal hamartoma, Epiretinal me... OMIM:101000
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Large iliac wing, Large fontanelles, Spina bifida occulta, Abnormality of the metaphys... ORPHA:2780
Otopalatodigital Syndrome, Type Ii
Wormian bones, Delayed closure of the anterior fontanelle, Nonossified fifth metatarsal, Short me... OMIM:304120
Marfanoid Habitus With Situs Inversus
Scoliosis, Situs inversus totalis, Aortic regurgitation, Genu recurvatum, Mandibular prognathia, ... OMIM:609008
Catel-Manzke Syndrome
Scoliosis, Camptodactyly of finger, Highly arched eyebrow, Atrial septal defect, Hypertelorism, V... ORPHA:1388
Developmental And Epileptic Encephalopathy 73
Short nose, Flexion contracture, Cataract, Inguinal hernia, Sensorineural hearing impairment, Fai... OMIM:618379
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Hypoplasia of the radius, Aplasia/Hypoplasia of the middle ph... OMIM:112910
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Flattened femoral head, Short femoral neck, Hump-shaped mound of bone in central... ORPHA:99642
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Short philtrum, Abnormality of the ribs, Short neck, Hypertelorism, Large fontanel... ORPHA:93267
Central Core Disease
Congenital hip dislocation, Central core regions in muscle fibers, Pelvic girdle muscle weakness,... ORPHA:597
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Joint laxity, Umbilical hernia, Proptosis, Posterior subcapsular cataract, Bilateral camptodactyl... OMIM:619234
Cofs Syndrome
Camptodactyly of finger, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita,... ORPHA:1466
Arthrogryposis, Distal, Type 5
Keratoconus, Abnormality of retinal pigmentation, Arthrogryposis multiplex congenita, Limited wri... OMIM:108145
Melnick-Needles Syndrome
Omphalocele, Coarse hair, Short distal phalanx of finger, Short clavicles, Pulmonary arterial hyp... OMIM:309350
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Craniosynostosis, Narrow palate, Camptodactyly, Metatarsus adductus, Mitral valve prol... OMIM:182212
Alstrom Syndrome
Progressive sensorineural hearing impairment, Nephritis, Pigmentary retinopathy, Chronic active h... OMIM:203800
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal thumb morphology, Mandibular prognathia, Atrial flutter, Mitral regurgitation, Abnormal ... ORPHA:324410
Becker Nevus Syndrome
Scoliosis, Abnormality of tibia morphology, Kyphosis, Lipoatrophy, Spina bifida occulta, Lower li... ORPHA:64755
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Platyspondyly, Hip dysplasia, Dislocated radial head, Abnormal vertebral morphology, A... ORPHA:93359
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Genu valgum, Mild short stature, Metaphyseal irregularity, Ovoid verteb... ORPHA:93315
Stiff Skin Syndrome
Camptodactyly, Lipodystrophy, Elbow flexion contracture, Knee flexion contracture OMIM:184900
Cutis Laxa, Autosomal Recessive, Type Iia
Scoliosis, Wide anterior fontanel, Frontal bossing, Congenital hip dislocation, Midface retrusion... OMIM:219200
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Hypertelorism, Wide anterior fontanel, Overlapping toe, Micrognathia, Deeply set ey... OMIM:201170
Lipodystrophy, Familial Partial, Type 1
Lipodystrophy, Increased adipose tissue around the neck, Increased facial adipose tissue, Loss of... OMIM:608600
Thanatophoric Dysplasia Type 1
Platyspondyly, Short femur, Wide anterior fontanel, Frontal bossing, Split hand, Kyphosis, Short ... ORPHA:1860
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Low posterior hairline, Abnormal hair quantity, High palate, Abnormality of the metacarpal bones,... ORPHA:2233
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Massively thickened l... ORPHA:1798
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Scoliosis, Kyphosis, Lipodystrophy, Flexion contracture, Proptosis, Hypogonadism, Micrognathia OMIM:615381
Peroxisome Biogenesis Disorder 10A (Zellweger)
Cataract, Epiphyseal stippling, Hypertelorism, Prominent nose OMIM:614882
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Irregularity of vertebral bodies, Talipes equinovarus, Frontal bossing, Short palm... ORPHA:85172
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Hearing impairment, Peripheral axonal neuropathy, Decreased nerve cond... ORPHA:101082
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal mitral valve morphology, Abnormal palate morphology, Mesomelia, Tooth agenesis, Abnormal... ORPHA:1277
Vitamin K Antagonist Embryofetopathy
Epiphyseal stippling, Hypertelorism, Short nose, Choanal atresia, Proptosis, Cataract, Hearing im... ORPHA:1914
Limited elbow extension, Frontal bossing, Midface retrusion, Trident hand, Rhizomelia, Lumbar kyp... OMIM:100800
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Craniosynostosis, Short phalanx of finger, Narrow mouth, Open mouth, A... ORPHA:508533
Mucolipidosis Iv
Corneal opacity, Retinal degeneration, Cerebellar atrophy, Opacification of the corneal stroma, M... OMIM:252650
Aniridia 3
Cataract OMIM:617142
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Chorioretinal lacunae, Chorioretinal dysplasia, Retinal fold, Corneal opacity, Cataract, Protrudi... OMIM:152950
Classical-Like Ehlers-Danlos Syndrome Type 2
Narrow palate, Elbow dislocation, Phalangeal dislocation, Pericardial effusion, Long uvula, Sanda... ORPHA:536532
Limbal Stem Cell Deficiency
Decreased corneal reflex, Generalized opacification of the cornea, Opacification of the corneal e... ORPHA:171673
Loeys-Dietz Syndrome 4
Scoliosis, Protrusio acetabuli, Hypertelorism, Deeply set eye, High palate, Dolichocephaly, High,... OMIM:614816
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Femoral-Facial Syndrome
Scoliosis, Hip dysplasia, Short femur, Radioulnar synostosis, Preaxial foot polydactyly, Aplasia/... ORPHA:1988
Camptodactyly of finger, Hypertelorism, Wide anterior fontanel, Abnormal form of the vertebral bo... ORPHA:2021
Brachyolmia Type 1, Hobaek Type
Scoliosis, Short iliac bones, Kyphosis, Flattened proximal radial epiphyses, Back pain, Short lon... OMIM:271530
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Recurrent respiratory infections, Microcornea, Corneal opacity ORPHA:2432
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Flat acetab... ORPHA:750
Cataract 1, Multiple Types
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... OMIM:116200
Tibial Aplasia-Ectrodactyly Syndrome
Preaxial hand polydactyly, Postaxial hand polydactyly, Short femur, Abnormality of femur morpholo... ORPHA:3329
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Ovoid vertebral bodies, Short long bone, Coxa vara, Genu varum, Rounded epi... OMIM:611702
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Spondylolysis, Ankle clonus, Os odontoideum, Lumbar hyperlordosis, Hand... OMIM:600561
Panniculitis-Induced Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Lipoatrophy, Absence of subcutaneous fat ORPHA:90159
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Platyspondyly, Wide anterior fontanel, Shortening of all phalanges of fingers, Mes... OMIM:601356
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Carious teeth, Craniosynostosis, Multiple joint dislocation, Phalangeal dislocation, O... ORPHA:536467
Exfoliation Syndrome
Retinal vein occlusion, Anisocoria, Pigment deposition in the trabecular meshwork, Asymmetry of i... OMIM:177650
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Ectodermal Dysplasia, Trichoodontoonychial Type
Sparse hair, Abnormal eyelash morphology, Lipoatrophy, Aplasia/Hypoplasia of the eyebrow, Sparse ... ORPHA:1818
Smith-Kingsmore Syndrome
Short proximal phalanx of finger, Hypertelorism, Wide anterior fontanel, Frontal bossing, Midface... OMIM:616638
Isolated Brachycephaly
Hypertelorism, Midface retrusion, Metacarpal synostosis, Proptosis, Brachycephaly, Brachydactyly ORPHA:35099
Alport Syndrome
Recurrent bronchitis, Retinal flecks, Anterior lenticonus, Hypertension, Posterior subcapsular ca... ORPHA:63
Microcephalic Primordial Dwarfism, Montreal Type
Scoliosis, Shagreen patch, Premature graying of hair, Abnormal hair quantity, Micrognathia, Kypho... ORPHA:2617
Donnai-Barrow Syndrome
Proptosis, Hypertelorism, Short nose, Wide anterior fontanel, Iris coloboma, Omphalocele, Umbilic... OMIM:222448
Dermatitis, Atopic
Keratoconus, Allergic rhinitis, Atopic dermatitis, Cataract, Conjunctivitis, Eczema, Recurrent sk... OMIM:603165
Cerebellar-Facial-Dental Syndrome
Scoliosis, Sparse eyebrow, Abnormal T-wave, Alveolar ridge overgrowth, Mitral valve prolapse, Sho... ORPHA:444072
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Nathalie Syndrome
Cataract, Sensorineural hearing impairment, Arrhythmia ORPHA:2663
Acromesomelic Dysplasia, Hunter-Thompson Type
Radial bowing, Hypoplasia of the radius, Abnormally shaped carpal bones, Hypoplasia of the ulna, ... OMIM:201250
Microtriplication 11Q24.1
Keratoconus, Hypertelorism, Attached earlobe, Posteriorly rotated ears, Hearing impairment, Micro... ORPHA:289522
Caffey Disease
Scoliosis, Cellulitis, Periosteal thickening of long tubular bones, Cortical thickening of long b... ORPHA:1310
Cardiac-Valvular Ehlers-Danlos Syndrome
Dental crowding, Pulmonary insufficiency, Tricuspid regurgitation, Sandal gap, Mitral valve prola... ORPHA:230851
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Shallow anterior chamber, Persistent pupillary membrane, Remnants of the hyaloid vas... OMIM:221900
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy, Obesity OMIM:615995
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Fatty Acyl-Coa Reductase 1 Deficiency
Hypertelorism, Short nose, Macrotia, Cerebellar atrophy, Progressive microcephaly, Juvenile catar... ORPHA:438178
Lipodystrophy, Congenital Generalized, Type 3
Hirsutism, Lipodystrophy, Primary amenorrhea, Reduced subcutaneous adipose tissue, Generalized li... OMIM:612526
Costello Syndrome
Keratoconus, Abnormal dental enamel morphology, Macroglossia, Narrow palate, Thickened Achilles t... ORPHA:3071
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Down-sloping shoulders, Lipodystrophy, Short clavicles OMIM:212112
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Premature graying of hair, Abnormal hair morphology, Palmoplantar keratoderma, Pes planus, Lipody... ORPHA:1979
Atelosteogenesis Type Ii
Short phalanx of finger, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatarsus adductus, Short ... ORPHA:56304
Fg Syndrome Type 1
Craniosynostosis, Open mouth, Dental crowding, Pulmonary arterial hypertension, Mitral valve prol... ORPHA:93932
Short Syndrome
Frontal bossing, Enlarged epiphyses, Midface retrusion, Deeply set eye, Lipodystrophy, Lipoatroph... OMIM:269880
Membranoproliferative Glomerulonephritis, X-Linked
Lipodystrophy OMIM:305800
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Fibular Hemimelia
Craniosynostosis, Hip subluxation, Structural foot deformity, Bowing of the legs, Abnormality of ... ORPHA:93323
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
Microcephaly 10, Primary, Autosomal Recessive
Arthrogryposis multiplex congenita, Gliosis, Cerebral atrophy, Choanal atresia, Cataract, Cerebel... OMIM:615095
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Leri-Weill Dyschondrosteosis
Scoliosis, Short 4th metacarpal, Hypoplasia of the radius, Short toe, Abnormal metatarsal morphol... OMIM:127300
Spastic Paraparesis And Deafness
Hypogonadism, Cataract, Hearing impairment OMIM:312910
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Pectoral muscle hypoplasia/aplasia, Postaxial hand polydactyly, Hyperte... OMIM:136760
Crouzon Disease
Convex nasal ridge, Hypertelorism, Narrow internal auditory canal, Conductive hearing impairment,... ORPHA:207
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Acroosteolysis of distal p... OMIM:608612
Shprintzen-Goldberg Syndrome
Scoliosis, Craniosynostosis, Elbow dislocation, Abnormality of the metaphysis, Mitral valve prola... ORPHA:2462
Desbuquois Syndrome
Scoliosis, Camptodactyly of finger, Abnormal femoral neck/head morphology, Radioulnar synostosis,... ORPHA:1425
Nemaline Myopathy 3
Scoliosis, Hyperlordosis, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Type ... OMIM:161800
Warburg-Cinotti Syndrome
Decreased corneal thickness, Hypoplasia of the ear cartilage, Underdeveloped nasal alae, Flexion ... OMIM:618175
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy, Palmoplantar keratoderma ORPHA:154
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Three M Syndrome 1
Mandibular prognathia, Postnatal growth retardation, Spina bifida occulta, Short neck, Hyperlordo... OMIM:273750
Bilateral Striopallidodentate Calcinosis
Microcephaly, Subcutaneous hemorrhage, Corneal opacity ORPHA:1980
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Toe cli... ORPHA:457395
Léri-Weill Dyschondrosteosis
Abnormality of tibia morphology, Dorsal subluxation of ulna, Abnormality of the carpal bones, Abn... ORPHA:240
20P13 Microdeletion Syndrome
Highly arched eyebrow, Hypertelorism, Wide anterior fontanel, Finger syndactyly, Polydactyly, Dee... ORPHA:313781
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Hypertelorism, Sparse hair, Deeply set eye, Lipoatrophy, Failure to thrive, Aplasia/Hypoplasia of... ORPHA:261304
Rhizomelic Syndrome
Wide anterior fontanel, Rhizomelia, Complete duplication of thumb phalanx, Bifid distal phalanx o... OMIM:268250
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Joint hypermobility, Gliosis, Tarsal sclerosis, Cone/cone-rod dystrophy, Small for gestational ag... ORPHA:404454
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Rocker bottom foot, Humeroradial synostosis, Lambdoidal craniosynostosis, Wide anterior fontanel,... OMIM:207410
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Short femur, Frontal bossing, Midface retrusion, Rhizomelia, Hypoplastic scapulae, Micrognathia, ... ORPHA:440354
Spondylodysplastic Ehlers-Danlos Syndrome
Joint hypermobility, Optic disc coloboma, Iris coloboma, Corneal opacity, Megalocornea, Increased... ORPHA:536471
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Dilated cardiomyopathy,... OMIM:300718
Wormian bones, Narrow palate, Persistent open anterior fontanelle, Short distal phalanx of finger... ORPHA:763
Stickler Syndrome
Scoliosis, Open bite, Abnormal dental enamel morphology, Skeletal muscle atrophy, Mitral valve pr... ORPHA:828
Acrofrontofacionasal Dysostosis 2
Broad thumb, Wide anterior fontanel, Hand polydactyly, Hypertelorism, Widow's peak, Sacral dimple... OMIM:239710
Mucolipidosis Iii Gamma
Scoliosis, Genu valgum, Hyperlordosis, Aortic regurgitation, Flared iliac wing, Kyphosis, Aortic ... OMIM:252605
Carpenter Syndrome 1
Scoliosis, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Omphalocele, Metatarsus... OMIM:201000
Neurofibromatosis Type 2
Neuroma, Remnants of the hyaloid vascular system, Peripheral Schwannoma, Bilateral vestibular Sch... ORPHA:637
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Scoliosis, Camptodactyly of finger, Hyperlordosis, Biparietal narrowing, Narrow palate, Narrow mo... ORPHA:1323
Craniosynostosis, Elbow ankylosis, Proptosis, Recurrent corneal erosions OMIM:148800
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Optic disc hypoplasia, Aplasia/Hypoplasia of the iris, Corneal opacity, P... ORPHA:137902
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Retinal pigment epithelial atrophy, Chorioretinal atrophy, Periphera... OMIM:143200
Lipase Deficiency, Combined
Lipodystrophy OMIM:246650
Insulin-Like Growth Factor I, Resistance To
Highly arched eyebrow, Deeply set eye, Lipodystrophy, Decreased body weight, Sandal gap, Radial d... OMIM:270450
Myopathy, Congenital, With Tremor
Scoliosis, EMG: myopathic abnormalities, Scapular winging, Narrow mouth, Flexion contracture, Lum... OMIM:618524
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Lipodystrophy, Familial Partial, Type 6
Lipodystrophy, Abdominal obesity OMIM:615980
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Flat acetabular roof, Small epiphyses, Short femoral neck, Micrognathia, Short neck, G... ORPHA:94068
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Palmoplantar cutis gyrata, Atrophic scars, Atypical scarring of skin, Lipodystrophy, Flexion cont... ORPHA:75496
Spastic Paraparesis-Deafness Syndrome
Cataract, Hypogonadism, Sensorineural hearing impairment ORPHA:2815
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Iris coloboma, Sensorineural hearing impairment, Microcornea, Anterior syn... ORPHA:3214
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Abnormality of the elbo... ORPHA:2616
Short Syndrome
Abnormal dental enamel morphology, Hypertelorism, Joint hyperflexibility, Deeply set eye, Posteri... ORPHA:3163
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Oligomenorrhea OMIM:613877
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Short neck, Frontal bossing, Elbow dislocation, Midface retrusion, Phal... OMIM:264180
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Punctate keratitis, Keratoconjunctivitis sicca, Corneal neovascularization,... OMIM:617388
Langer Mesomelic Dysplasia
Radial bowing, Hypoplasia of the radius, Rudimentary fibula, Hypoplasia of the ulna, Mesomelia, L... OMIM:249700
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Massively thickened long bone cortices, Thin calvarium, Limb undergrowth, Proptosis, Brachycephal... OMIM:122900
Corneal Dystrophy, Posterior Polymorphous, 1
Uveal ectropion, Corneal opacity, Ectopia pupillae, Iris atrophy, Polymorphous posterior corneal ... OMIM:122000
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scoliosis, Tricuspid regurgitation, Flat acetabular roof, Patent foramen ovale, Clinodactyly of t... OMIM:618870
Isolated Cloverleaf Skull Syndrome
Craniosynostosis, Finger syndactyly, Midface retrusion, Abnormal form of the vertebral bodies, Pr... ORPHA:2343
Campomelic Dysplasia
Talipes equinovarus, Hypoplastic cervical vertebrae, Poorly ossified cervical vertebrae, Wide ant... OMIM:114290
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Acroosteolysis of distal p... OMIM:248370
Gómez-López-Hernández Syndrome
Low-set ears, Hypertelorism, Anteverted nares, Corneal opacity ORPHA:1532
Myopathic Ehlers-Danlos Syndrome
Scoliosis, Congenital muscular torticollis, High, narrow palate, Micrognathia, Elbow flexion cont... ORPHA:536516
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Keppen-Lubinsky Syndrome
Scoliosis, Flexion contracture, Absence of subcutaneous fat, Proptosis, Failure to thrive, Microg... OMIM:614098
Enthesitis-Related Juvenile Idiopathic Arthritis
Abnormal femoral neck/head morphology, Abnormal hip joint morphology, Abnormality of the elbow, A... ORPHA:85438
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Hirsutism, Iris coloboma, Omphalocele, Double outlet right ventricle, Mitral valve prolapse, Scle... ORPHA:371428
Atelosteogenesis, Type I
Short metatarsal, Thoracic platyspondyly, Multinucleated giant chondrocytes in epiphyseal cartila... OMIM:108720
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Abnormal ilium morphology, Abnormal hip joint morpho... ORPHA:1159
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Flexion contracture, Cerebral atrophy, Cataract, Failure to thrive, Broad nasal tip, Microcephaly OMIM:617393
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Obesity, Hip dysplasia, Ulnar metap... ORPHA:174
Acromesomelic Dysplasia, Grebe Type
Postaxial hand polydactyly, Tarsal synostosis, Synostosis of carpal bones, Bowing of the long bon... ORPHA:2098
Jaberi-Elahi Syndrome
Joint hypermobility, Short nose, Low-set ears, Cataract, Cerebellar atrophy, Protruding ear, Join... OMIM:617988
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Hyperlordosis, Hip dysplasia, Hand muscle weakness, Congenital foot contraction deformities, Flex... ORPHA:363454
Idiopathic Panuveitis
Vitreous haze, Cystoid macular edema, Choroidal neovascularization, Vitreous snowballs, Epiretina... ORPHA:280921
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Anteverted nares, Optic disc hypoplasia, Short nasal bridge, Hearing impairment, Pro... ORPHA:401777
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Hypertelorism, Frontal bossing, Midface retrusion, Thickened calvaria, Mesomelia, Um... OMIM:616331
Larsen-Like Syndrome
Hypertelorism, Wide anterior fontanel, Frontal bossing, Radial deviation of the 4th finger, Brach... OMIM:608545
Woolly Hair
Cataract, Abnormal retinal morphology, Abnormal pupil morphology ORPHA:170
Lipodystrophy, Familial Partial, Type 5
Lipodystrophy OMIM:615238
Marfan Syndrome
Scoliosis, Narrow palate, Dental crowding, Camptodactyly, Tricuspid regurgitation, Metatarsus add... OMIM:154700
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Ocular anterior segment dysgenesis, Hearing impairment, Peters anomaly, Ocular hyp... OMIM:610023
Myotonic Dystrophy 2
Palpitations, Oligospermia, Tachycardia, Hypogonadism, Iridescent posterior subcapsular cataract OMIM:602668
Lipodystrophy, Familial Partial, Type 7
Lack of facial subcutaneous fat, Lipodystrophy, Absence of subcutaneous fat, Decreased adipose ti... OMIM:606721
Mucopolysaccharidosis, Type Vii
Scoliosis, Hirsutism, Corneal opacity, Postnatal growth retardation, Anterior beaking of lumbar v... OMIM:253220
Cornea Plana 2, Autosomal Recessive
Flat cornea, Decreased corneal thickness, Corneal arcus OMIM:217300
Martsolf Syndrome 1
Short phalanx of finger, Slender ulna, Metatarsus adductus, Cardiac arrest, Broad fingertip, High... OMIM:212720
Lateral Meningocele Syndrome
Scoliosis, Wormian bones, Dental crowding, Iris coloboma, High palate, High, narrow palate, Short... ORPHA:2789
Xeroderma Pigmentosum, Complementation Group D
Cataract, Conjunctivitis, Keratoconjunctivitis sicca, Keratitis, Sensorineural hearing impairment... OMIM:278730
Coenzyme Q10 Deficiency, Primary, 7
Scoliosis, Hypoplastic left heart, Intrauterine growth retardation, Bradycardia, Hypertrophic car... OMIM:616276
Mucopolysaccharidosis, Type Vi
Metaphyseal irregularity, Flared iliac wing, Split hand, Ovoid vertebral bodies, Hirsutism, Anter... OMIM:253200
Apolipoprotein A-I Deficiency
Corneal opacity ORPHA:425
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Limited elbow extension, Hypertelorism, Bulbous nose, Laryngotracheomalacia, Short nose, Delayed ... OMIM:271510
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Abnormality of dental morphology, Kyphosis, Proptosis, Abnormal hip bo... ORPHA:2522
Congenital Rubella Syndrome
Skin rash, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal opacity, ... ORPHA:290
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract, Hypertrophic cardiomyopathy ORPHA:79281
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Metatropic Dysplasia
Scoliosis, Platyspondyly, Arthrogryposis multiplex congenita, Anisospondyly, Long coccyx, Kyphosi... OMIM:156530
Stuve-Wiedemann Syndrome
Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Short neck, Elbow flexion ... OMIM:601559
Gapo Syndrome
Keratoconus, Hypertelorism, Amenorrhea, Oligospermia, Joint hyperflexibility, Choanal atresia, Th... ORPHA:2067
Fragile X Syndrome
Scoliosis, Mitral valve prolapse, Mandibular prognathia OMIM:300624
Ceroid Lipofuscinosis, Neuronal, 3
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Concentric hypertrophic ca... OMIM:204200
Mesomelic Dysplasia, Savarirayan Type
Dislocated radial head, Delayed closure of the anterior fontanelle, Talipes equinovalgus, Mesomel... OMIM:605274
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Glaucoma 3, Primary Congenital, E
Megalocornea, Ocular hypertension OMIM:617272
Cardiomyopathy, Familial Hypertrophic, 21
Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy OMIM:614676
Atrial Standstill
Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,... ORPHA:1344
Turnpenny-Fry Syndrome
Facial hypotonia, Narrow mouth, Dental crowding, Mandibular prognathia, Torticollis, Mitral valve... OMIM:618371
Infantile Spasms-Broad Thumbs Syndrome
Convex nasal ridge, Hypertelorism, Cataract, Cerebral cortical atrophy, EEG abnormality, Microcep... ORPHA:3173
Sialidosis Type 2
Osteoporosis, Abnormal macular morphology, Flexion contracture, Corneal opacity, Umbilical hernia... ORPHA:87876
Aarskog-Scott Syndrome
Oral cleft, Megalocornea, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum, ... ORPHA:915
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Nemaline Myopathy 2
Scoliosis, EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Narrow mouth, Skelet... OMIM:256030
Czech Dysplasia
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Flexion contracture, Na... OMIM:609162
Melnick-Needles Syndrome
Scoliosis, Omphalocele, Short distal phalanx of finger, Short clavicles, Abnormality of the metap... ORPHA:2484
Aldh18A1-Related De Barsy Syndrome
Cataract, Joint hyperflexibility ORPHA:35664
Dermoids Of Cornea
Corneal opacity OMIM:304730
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Scoliosis, Short femur, Foot oligodactyly, Omphalocele, Amelia OMIM:601357
Aredyld Syndrome
Scoliosis, Abnormal dental enamel morphology, Craniofacial hyperostosis, Lipoatrophy, Cachexia, A... ORPHA:1133
Neuronopathy, Distal Hereditary Motor, Type Viii
Scoliosis, Hyperlordosis, Arthrogryposis multiplex congenita, Spinal muscular atrophy, Proximal l... OMIM:600175
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Platyspondyly, Hyperlordosis, Genu valgum, Delayed pubic bone ossification, Club-shape... OMIM:184250
Cataract, Ataxia, Short Stature, And Mental Retardation
Posterior subcapsular cataract OMIM:300619
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Highly arched eyebrow, Epiphyseal stippling, H... OMIM:619135
Kniest Dysplasia
Conductive hearing impairment, Recurrent otitis media, Tracheomalacia, Umbilical hernia, Proptosi... OMIM:156550
Camurati-Engelmann Disease, Type 2
Mitral valve prolapse, Delayed puberty, Thoracolumbar scoliosis, Knee flexion contracture, Skelet... OMIM:606631
Weill-Marchesani Syndrome 1
Scoliosis, Narrow palate, Proportionate short stature, Broad phalanges of the hand, Shallow orbit... OMIM:277600
Scoliosis, Hyperlordosis, Short toe, Childhood onset short-limb short stature, Abnormal form of t... ORPHA:429
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Thin vermilion border, Thoracic kyphosis, Metatarsus adductus, High palate, Patellar subluxation,... ORPHA:3041
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Platyspondyly, Short femur, Hypertelorism, Micrognathia, Flexion contracture, Addu... OMIM:616897
Jackson-Weiss Syndrome
Short metatarsal, Toe syndactyly, Frontal bossing, Hypertelorism, Midface retrusion, Broad hallux... ORPHA:1540
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hyperlordosis, Hip dysplasia, Scapular winging, Spinal muscular atrophy, Achilles tendon contract... OMIM:615290
Hunter-Macdonald Syndrome
Scoliosis, Large fontanelles, Camptodactyly, Pseudoepiphyses, Metatarsus adductus, Mitral valve p... OMIM:611962
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Camptodactyly, Kyphosis, Short thumb, Clinodactyly of the 5th finger OMIM:618453
Ehlers-Danlos Syndrome, Classic Type, 1
Cigarette-paper scars, Irregularly spaced teeth, Hyperextensibility of the knee, Recurrent sinusi... OMIM:130000
Joint Laxity, Short Stature, And Myopia
Chorioretinal coloboma, Iris coloboma, Proptosis, Hearing impairment, Retinal detachment, Osteopenia OMIM:617662
Zellweger Syndrome
Abnormal chorioretinal morphology, Brushfield spots, Epiphyseal stippling, Wide anterior fontanel... ORPHA:912
Retinal arteriolar occlusion, Pigmentary retinopathy, Abnormality of chorioretinal pigmentation, ... OMIM:193220
Oculoauricular Syndrome
Microphakia, Macular hypoplasia, Cataract, Ocular anterior segment dysgenesis, Microcornea, Scler... OMIM:612109
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Hypertelorism, Beaking of vertebral bodies, Limb under... OMIM:618961
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, Kyphosis, Lipodystrophy, Back pain, Ach... ORPHA:98855
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation, Corneal opacity,... ORPHA:585
Pierpont Syndrome
Hypertelorism, Short nose, Abnormal peripheral nervous system morphology, Deeply set eye, Decreas... OMIM:602342
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... OMIM:618728
Scheie Syndrome
Aortic regurgitation, Corneal opacity, Retinal degeneration, Aortic valve stenosis, Wide nose, De... OMIM:607016
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Umbilical hernia, Wide anterior fontanel OMIM:275100
Osteogenesis Imperfecta
Scoliosis, Wormian bones, Abnormal dental enamel morphology, Carious teeth, Abnormality of long b... ORPHA:666
Neurogenic Arthrogryposis Multiplex Congenita
Scoliosis, Rocker bottom foot, Hypertelorism, Abnormal heart morphology, Micrognathia, Flexion co... ORPHA:1143
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... OMIM:617319
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Short phalanx of finger, Clinodactyl... OMIM:170390
Ck Syndrome
Scoliosis, Hyperlordosis, Dental crowding, Kyphosis, Abnormal digit morphology, High palate, Retr... OMIM:300831
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Scoliosis, Hyperlordosis, Genu valgum, Thin vermilion border, Long philtrum, Congenital hip dislo... OMIM:616007
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Carious teeth, Short metatarsal, Narrow palate, Leukonychia, Ivory epiphyses of the di... OMIM:190350
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Wide anterior fontanel, Frontal bossing, Deeply set eye, Long eyelashes, Failure to thrive in inf... OMIM:619064
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Short nose, Deeply set eye, Corneal opacity, Cataract, Cerebellar atrophy, Optic nerve hypoplasia... ORPHA:496790
Papillorenal Syndrome
Gliosis, Joint laxity, Lens luxation, Retinal coloboma, Chorioretinal atrophy, Morning glory anom... OMIM:120330
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Tarsal synostosis, Wide anterior fontanel, Frontal bossing, Ab... ORPHA:85199
Autism Spectrum Disorder Due To Auts2 Deficiency
Scoliosis, Highly arched eyebrow, Arthrogryposis multiplex congenita, Hypertelorism, Kyphosis, Jo... ORPHA:352490
Hallermann-Streiff Syndrome
Scoliosis, Wormian bones, Thin vermilion border, Narrow palate, Narrow mouth, Proportionate short... OMIM:234100
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Short digit, Short neck,... OMIM:268310
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Scoliosis, Hyperlordosis, Cataract, Spinal rigidity, Increased adipose tissue, Short stature OMIM:617404
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Filippi Syndrome
Underdeveloped nasal alae, Decreased body weight, Wide nasal bridge, Postnatal growth retardation... OMIM:272440
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Developmental cataract, Flexion contracture, Corneal opacity, Dilated cardiomyopathy, Bradycardia... OMIM:618815
Myosclerosis, Autosomal Recessive
Restricted neck movement due to contractures, Increased connective tissue, Achilles tendon contra... OMIM:255600
Erythrokeratodermia Variabilis
Skin rash, Corneal opacity, Weight loss, Cataract, Hearing impairment, Protruding ear, Microcephaly ORPHA:317
Proteus-Like Syndrome
Shagreen patch, Subcutaneous lipoma, Heterochromia iridis, Anteverted nares, Bronchogenic cyst, C... ORPHA:2969
Atelosteogenesis, Type Iii
Scoliosis, Cervical segmentation defect, Elbow dislocation, Hitchhiker thumb, Sandal gap, Flat ac... OMIM:108721
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Short femur, Tarsal synostosis, Talocalcaneal synostosis, Pes planus, Sandal gap, Wide capital fe... OMIM:147891
Chondrodysplasia Punctata 1, X-Linked Recessive
Epiphyseal stippling, Short nose, Anosmia, Cataract, Hearing impairment, Microcephaly, Hypogonadi... OMIM:302950
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Platyspondyly, Irregularity of vertebral bodies, Genu valgum, Prox... OMIM:609324
Keratoconus Posticus Circumscriptus
Keratoconus, Hypertelorism, Central posterior corneal opacity, Limited elbow extension and supina... OMIM:244600
Mucoepithelial Dysplasia, Hereditary
Recurrent pneumonia, Pneumonia, Melena, Cataract, Opacification of the corneal stroma, Corneal ne... OMIM:158310
Chops Syndrome
Hypertelorism, Short nose, Proptosis, Laryngomalacia, Cataract, Hearing impairment, Aspiration pn... OMIM:616368
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Chorioretinal dysplasia, Cerebral atrophy, Retinal dystrophy... OMIM:251270
Rigid Spine Syndrome
Scoliosis, Hyperlordosis, Cardiac conduction abnormality, Spinal rigidity, Skeletal muscle atroph... ORPHA:97244
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Micrognathi... ORPHA:1427
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Craniosynostosis, Hypertelorism, Sparse eyebrow, Sparse hair, Ventricular septal defect, Abnormal... OMIM:616901
Lowry-Maclean Syndrome
Craniosynostosis, Downturned corners of mouth, Corneal opacity, Small anterior fontanelle, Megalo... ORPHA:2409
Interictal EEG abnormality, Gliosis, Hemihypsarrhythmia, EEG with burst suppression, EEG with pol... ORPHA:99802
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Thoracic kyphosis, Mandibular prognathia, Camptodactyly, Carpal bone... OMIM:223800
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Corneal opacity, Sensorineural hearing impairment, Hernia, Rh... ORPHA:93476
Musculocontractural Ehlers-Danlos Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Craniosynostosis, Narrow mouth, Large fontanelles,... ORPHA:2953
Uruguay Faciocardiomusculoskeletal Syndrome
Scoliosis, Ventricular hypertrophy, Congenital hip dislocation, Dislocation of toes, Camptodactyl... OMIM:300280
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Thoracic kyphosis, Irregular vertebral endplates, Lumbar h... OMIM:609223
X-Linked Dominant Chondrodysplasia Punctata
Hip dysplasia, Abnormality of hair texture, Frontal bossing, Abnormal vertebral morphology, Abnor... ORPHA:35173
Neonatal Marfan Syndrome
Abnormal echocardiogram, High, narrow palate, Mitral regurgitation, Flexion contracture, Lipoatro... ORPHA:284979
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short metacarpal, Short foot, Proptosis, Short toe, Patellar dislocation, Micrognath... OMIM:614078
Marden-Walker Syndrome
Scoliosis, Hypertelorism, Wide anterior fontanel, Radioulnar synostosis, Micrognathia, Camptodact... OMIM:248700
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis, Abnormality of epiphysis morphology, Cataract, Lower limb undergrowth, ... ORPHA:2310
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Delayed closure of the anterior fontanelle, Short phalanx of finger, Wide anterior fontanel, Hirs... OMIM:225410
Pfeiffer Syndrome
Hyperlordosis, Hip dysplasia, Short philtrum, Broad thumb, Hypertelorism, Open mouth, Synostosis ... ORPHA:710
Lipodystrophy, Familial Partial, Type 3
Oligomenorrhea, Lipodystrophy, Hirsutism, Primary amenorrhea, Loss of gluteal subcutaneous adipos... OMIM:604367
X-Linked Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Short neck, Proximal lower limb amyotrophy, Kyphosis, Lipodystrophy, Ba... ORPHA:98863
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Osteoporosis, Joint laxity, Abnormal vitreous humor morphology, Corn... ORPHA:2788
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Scoliosis, Biconcave vertebral bodies, Dental crowding, High palate, Ectopia lentis, Myocardial i... OMIM:236200
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Atrial septal defect, Disproportionate short stature, Ventricular septal... ORPHA:1354
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal dysplasia, Opacification of t... OMIM:310600
Ectopia Lentis Et Pupillae
Cataract, Persistent pupillary membrane, Ectopia lentis, Retinal detachment OMIM:225200
Three M Syndrome 2
Hyperlordosis, Delayed eruption of teeth, Prominent calcaneus, Long philtrum, Scapular winging, F... OMIM:612921
Acrocapitofemoral Dysplasia
Scoliosis, Hyperlordosis, Flared iliac wing, Ovoid vertebral bodies, Short palm, Cone-shaped epip... ORPHA:63446
Pelvis-Shoulder Dysplasia
Iris coloboma, Hypoplastic ischia, Acetabular dysplasia, Neonatal short-trunk short stature, Micr... ORPHA:2839
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypertelorism, Wide anterior fontanel, Midface retrusion, Failure to thrive in infancy, Small for... OMIM:617241
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
Hypertelorism, Umbilical hernia, Proptosis, Megalocornea, Inguinal hernia, Broad nasal tip, Macro... OMIM:618354
22Q11.2 Deletion Syndrome
Small earlobe, Abnormal dental enamel morphology, Seborrheic dermatitis, Bulbous nose, Overfolded... ORPHA:567
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
EMG: myopathic abnormalities, Hip subluxation, Wrist drop, Trigonocephaly, Mitral valve prolapse,... ORPHA:1900
Muenke Syndrome
Low anterior hairline, Broad thumb, Short middle phalanx of toe, Hypertelorism, Midface retrusion... OMIM:602849
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology OMIM:160565
Retinopathy, Pigmentary, And Mental Retardation
Joint hypermobility, Pigmentary retinopathy, Cataract, Truncal obesity, Microcephaly, Hypogonadism OMIM:268050
Wieacker-Wolff Syndrome
Scoliosis, Arthrogryposis multiplex congenita, Camptodactyly, High palate, Short neck, Micrognath... OMIM:314580
Schwartz-Jampel Syndrome, Type 1
Pursed lips, Congenital hip dislocation, Narrow mouth, Long eyelashes in irregular rows, Wrist fl... OMIM:255800
Oculodentodigital Dysplasia, Autosomal Recessive
Abnormal dental enamel morphology, Thin vermilion border, Hypoplasia of teeth, Large fontanelles,... OMIM:257850
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Hypertelorism, Abnormal mitral valve morphology, Mandibular progna... ORPHA:1919
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Microretrognathia, Hypoplasia of the ulna, Sandal gap... ORPHA:1972
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Scoliosis, Hyperlordosis, Macroglossia, Open mouth, Left ventricular systolic dysfunction, Congen... OMIM:613156
Trichorhinophalangeal Syndrome Type 1 And 3
Scoliosis, Short metatarsal, Leukonychia, Short distal phalanx of finger, High palate, Micrognath... ORPHA:77258
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract, Microcephaly OMIM:615412
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Hypertelorism, Sparse eyebrow, Widow's peak, Abnormal eyelash morphology, Con... ORPHA:2399
Fragile X Syndrome
Mitral valve prolapse, Mandibular prognathia, Frontal bossing, Sinusitis ORPHA:908
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Small for gestational age, Abnormal r... ORPHA:90050
Tetralogy Of Fallot
Dolichocephaly, Clinodactyly of the 5th finger, Brachydactyly, Proptosis ORPHA:3303
Hereditary Sensory And Autonomic Neuropathy Type 2
Hyperlordosis, Wormian bones, Abnormality of the knee, Foot acroosteolysis, Abnormality of epiphy... ORPHA:970
3C Syndrome
Scoliosis, Iris coloboma, Postnatal growth retardation, Hemivertebrae, Oral cleft, High, narrow p... ORPHA:7
Noonan Syndrome 10
Scoliosis, Cubitus valgus, Atrial septal defect, Hypertelorism, Prominent corneal nerve fibers, S... OMIM:616564
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Attenuation of retinal blood vessels, Cone/cone-rod... OMIM:614500
Neu-Laxova Syndrome 2
Scoliosis, Rocker bottom foot, Short neck, Hypertelorism, Cleft palate, Intrauterine growth retar... OMIM:616038
Mitral Valve Prolapse 1
Reversed usual vertebral column curves, High palate, High, narrow palate, Mitral valve prolapse, ... OMIM:157700
Autosomal Recessive Centronuclear Myopathy
Hyperlordosis, Scapular winging, Narrow mouth, Abnormal heart valve morphology, High palate, Cent... ORPHA:169186
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Biparietal narrowing, Corneal opacity, EEG abnormality, Micr... ORPHA:578
8P11.2 Deletion Syndrome
Atrial septal defect, Hypertelorism, Supernumerary ribs, High palate, Growth delay, Iris coloboma... ORPHA:251066
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Atrioventricular canal defect, Abnormality... ORPHA:40366
Primary Non-Essential Cutis Verticis Gyrata
Microcephaly, Developmental cataract, Gliosis, Keloids ORPHA:357225
Weill-Marchesani Syndrome 2
Scoliosis, Short metatarsal, Narrow palate, Proportionate short stature, Lens luxation, High pala... OMIM:608328
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Bartsocas-Papas Syndrome 2
Axillary pterygium, Wide anterior fontanel, Corneal opacity, Bilateral cleft lip and palate, Smal... OMIM:619339
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Adult onset sensorineural hearing impairment, Cataract, Optic atrophy, Sensory axonal neuropathy ORPHA:329314
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Atrial septal defect, Dental crowding, Abnorm... ORPHA:776
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Hyperlordosis, Pectoralis amyotrophy, Scapular winging, Congenital finger flexion contractures, M... ORPHA:267
Warburg Micro Syndrome 2
Developmental cataract, Asymmetry of the ears, Short nose, Macrotia, Global brain atrophy, Flexio... OMIM:614225
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Short neck, Gingival fibromatosis, Large fontane... ORPHA:1832
Kniest Dysplasia
Flexion contracture of finger, Laryngotracheomalacia, Lens luxation, Abnormal bone structure, Lat... ORPHA:485
Juvenile Glaucoma
Retinal vein occlusion, Abnormality iris morphology, Temporal optic disc pallor, Abnormality of t... ORPHA:98977
Marfan Syndrome
Scoliosis, Open bite, Dental crowding, Lens luxation, Skeletal muscle atrophy, Arthralgia/arthrit... ORPHA:558
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Finger joint hypermobility, Corneal neovascularization OMIM:615225
Lethal Kniest-Like Dysplasia
Platyspondyly, Wide anterior fontanel, Coronal cleft vertebrae, Abnormality of the ischium, Mesom... ORPHA:2347
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Short philtrum, Thin vermilion border, Short m... OMIM:156510
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Developmental cataract, Progressive cataract OMIM:246000
Oculocerebrodental Syndrome
Enamel hypoplasia, Scoliosis, Hyperlordosis, Developmental cataract, Oligodontia, Thoracic kyphos... ORPHA:557003
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Abnormality of the antihelix, Hypoplasia of the antihelix, Cataract, Hear... ORPHA:2489
Tetrasomy 5P
Short hallux, Hypertelorism, Wide anterior fontanel, Overlapping toe, Midface retrusion, Microgna... ORPHA:3309
Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, Kyphosis, Lipodystrophy, Back pain, Ach... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Scoliosis, Hyperlordosis, Proximal lower limb amyotrophy, Kyphosis, Lipodystrophy, Back pain, Ach... ORPHA:98853
Dysequilibrium Syndrome
Cataract ORPHA:1766
Congenital Sialidosis Type 2
Respiratory tract infection, Developmental cataract, Yellow/white lesions of the retina, Corneal ... ORPHA:93400
Flynn-Aird Syndrome
Progressive sensorineural hearing impairment, Osteoporosis, Increased bone density with cystic ch... OMIM:136300
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Prominence of the premaxilla, Hypertelorism, Congenital hip dislocation,... ORPHA:2412
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, EMG: myopathic abnormalities, Abnormality of long bone morphology, Abnormality of ... ORPHA:52430
Hurler Syndrome
Flared iliac wing, Hirsutism, Corneal opacity, Short clavicles, Short neck, Cardiomyopathy, Flexi... OMIM:607014
Orofaciodigital Syndrome Viii
Polydactyly, Short tibia, Syndactyly, Hypertelorism OMIM:300484
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Hyperlordosis, 2-3 toe syndactyly, Dolichocephaly, Severe short stature, Clinodactyly,... OMIM:617352
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Corneal opacity, Pneumonia, Subcortical cerebral atrophy, Cataract, Cerebra... ORPHA:309288
Macular Dystrophy, Corneal
Corneal dystrophy, Punctate opacification of the cornea, Macular dystrophy, Recurrent corneal ero... OMIM:217800
Gm1 Gangliosidosis
Scoliosis, Narrow mouth, Mandibular prognathia, Hirsutism, Corneal opacity, Abnormality of the me... ORPHA:354
Cardiac Valvular Dysplasia, X-Linked
Hypertelorism, Aortic regurgitation, Thick vermilion border, Tricuspid regurgitation, Short chord... OMIM:314400
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Enamel hypoplasia, Male hypogonadism, Iridocyclitis, Perifoveal ring of hyperautofluorescence, Pi... OMIM:240300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Retinal dysplasia, Cataract, Optic atrophy, Flexion contracture OMIM:613154
Thoracomelic Dysplasia
Hyperlordosis, Genu valgum, Disproportionate short-limb short stature, Low posterior hairline, El... ORPHA:1803
Osteogenesis Imperfecta, Type I
Otosclerosis, Wormian bones, Mitral valve prolapse, Dentinogenesis imperfecta, Biconcave flattene... OMIM:166200
Congenital Contractural Arachnodactyly
Scoliosis, Camptodactyly of finger, Arthrogryposis multiplex congenita, High palate, Flexion cont... ORPHA:115
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypertelorism, Rieger anomaly, Proptosis, Sensorineural hearing impairment, Abnormal auditory evo... OMIM:109120
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Back pain, Iris coloboma, Lum... OMIM:169550
Sjogren-Larsson Syndrome
Enamel hypoplasia, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the cor... OMIM:270200
Bone cyst, Optic atrophy, Proptosis ORPHA:184