Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SRY (sex determining region Y)-box 11
Synonyms:
end1,  1110038H03Rik,  6230403H02Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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 Sox11 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 Sox11 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coffin-Siris Syndrome
Clinodactyly, Aspiration pneumonia, Cryptorchidism, Ventricular septal defect, Hernia, Hepatoblas... ORPHA:1465
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Short distal phalanx of finger, Short palpebral fissure, Highly arched eyebrow, Clinodactyly, Del... OMIM:615866

The table below shows human diseases predicted to be associated to Sox11 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... OMIM:215140
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Cutaneous finger syndactyly, Hip contracture, Barrel-shaped chest, Ventricular... OMIM:178110
Chst3-Related Skeletal Dysplasia
Highly arched eyebrow, Rhizomelia, Sparse eyebrow, Delayed eruption of teeth, Long philtrum, Abno... ORPHA:263463
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Limitation of joint mobility, Hypoplasia of the odontoid pr... ORPHA:93284
Chudley-Mccullough Syndrome
Polymicrogyria, Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Hydrocep... OMIM:604213
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Ivory epiphyses of the toes, Genu valgu... OMIM:226980
Spondyloepiphyseal Dysplasia Congenita
Hypoplasia of the odontoid process, Limited hip movement, Delayed pubic bone ossification, Barrel... OMIM:183900
Atelosteogenesis, Type Ii
Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia... OMIM:256050
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Cryptorchidism, Broad foot, Talipes, Epicanthus, Short neck, Pes p... ORPHA:915
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Anauxetic Dysplasia 1
Aortic valve stenosis, Atlantoaxial dislocation, Hip contracture, Barrel-shaped chest, Short neck... OMIM:607095
Smith-Mccort Dysplasia 2
Hypoplasia of the odontoid process, Genu valgum, Barrel-shaped chest, Short neck, Pes planus, Bro... OMIM:615222
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Short neck, Flat acetabular roo... OMIM:271700
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the dentition, Pectus carinatum, Finger syndactyly, Thick eyebrow, Radioulnar syno... ORPHA:3268
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Epicanthus, Short neck, Thoracolumbar scoli... ORPHA:457395
Kagami-Ogata Syndrome
Thin ribs, Bell-shaped thorax, Micrognathia, Ventricular septal defect, Blepharophimosis, Atrial ... OMIM:608149
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Abnormal epiphysis morphology, Downturned corners of mouth, Large fontanelles, Abn... ORPHA:93267
Spondyloepiphyseal Dysplasia Congenita
Dysplasia of the femoral head, Genu valgum, Micrognathia, Barrel-shaped chest, Limited elbow move... ORPHA:94068
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Abnormal... ORPHA:2631
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Tricuspid stenosis, Elbow dislocation, Genu valgu... OMIM:143095
Congenital Absence Of Upper Arm And Forearm With Hand Present
Atypical scarring of skin, Abnormality of the vertebral column, Stillbirth, Abnormal heart morpho... ORPHA:294975
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valg... OMIM:607326
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Achondrogenesis, Type Ii
Microretrognathia, Long philtrum, Broad long bones, Short tubular bones of the hand, Hypoplastic ... OMIM:200610
14Q24.1Q24.3 Microdeletion Syndrome
Short thumb, Long philtrum, Downslanted palpebral fissures, Intestinal malrotation, Abnormal hear... ORPHA:401935
Classical-Like Ehlers-Danlos Syndrome Type 2
Cellulitis, Tooth malposition, Periodontitis, Elbow dislocation, Aortic root aneurysm, Prominent ... ORPHA:536532
Disorganization, Mouse, Homolog Of
Cleft upper lip, Limb duplication, Sacral meningocele, Multiple lipomas, Hand polydactyly, Sacral... OMIM:223200
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Short distal phalanx of finger, Abnormal lung lobation, Joint stiffness, Mic... ORPHA:2516
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Radial bowing, Intestinal malrotation, Micrognathia, Upslanted palpebral fissure, Tibial bowing, ... ORPHA:3035
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Overlapping toe, Overlapping fingers, Cryptorchidism, Ventricular septal defect, Atrial septal de... OMIM:618316
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Decreased response to gro... ORPHA:1263
Arthrogryposis, Distal, Type 2B1
Mandibular prognathia, Rocker bottom foot, Arthrogryposis multiplex congenita, Scoliosis, Long ph... OMIM:601680
Arthrogryposis, Distal, Type 1A
Hand clenching, Joint contracture of the hand, Overlapping fingers, Overlapping toe, Narrow mouth... OMIM:108120
Mosaic Trisomy 9
Limitation of joint mobility, Elbow dislocation, Micrognathia, Endocardial fibroelastosis, Crypto... ORPHA:99776
Distal Duplication 15Q
Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Downslanted palpebral fissur... ORPHA:1707
Fucosidosis
Cherry red spot of the macula, Angiokeratoma, Barrel-shaped chest, Hernia, Beaking of vertebral b... OMIM:230000
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ankle flexion contracture, Dental crowding, Arthrogryposis multiplex congenita, Retrognathia, Int... OMIM:617468
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, W... OMIM:619131
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Long thorax, Abnormal palate morpholo... ORPHA:1277
Metatropic Dysplasia
Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Micromelia, Abnormal enchondral os... ORPHA:2635
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Gastroesophageal reflux, Congenital contracture, Pursed lips, Long philtrum, Elbow flexion contra... OMIM:616266
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Micrognathia, Congenital diaphragmatic hernia, Cryptorc... ORPHA:96170
Osteogenesis Imperfecta, Type Viii
Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr... OMIM:610915
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Micrognathia, Ventricular septal defect, Talipes equinovarus, Short neck, Ov... OMIM:617022
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calc... ORPHA:163966
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Small hand, Broad long bones, Nar... OMIM:228520
Acrootoocular Syndrome
Micrognathia, Anodontia, Epicanthus, Small thenar eminence, Blepharophimosis, Short foot, Short m... ORPHA:2980
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... OMIM:156510
Melnick-Needles Syndrome
Tooth malposition, Craniofacial hyperostosis, Delayed cranial suture closure, Micrognathia, Bowin... ORPHA:2484
Three M Syndrome 2
Short 5th finger, Thin ribs, Pectus carinatum, Dental malocclusion, Slender long bone, Clinodacty... OMIM:612921
Aarskog-Scott Syndrome
Cervical spine hypermobility, Hypoplasia of the odontoid process, Elevated circulating luteinizin... OMIM:305400
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Catel-Manzke Syndrome
Highly arched eyebrow, Scoliosis, Abnormal epiphysis morphology, Oral synechia, Camptodactyly of ... ORPHA:1388
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone... OMIM:613848
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic root aneurysm, Poor wound healing, Genu valgum, Mitral valve prolapse, Pes planus, Thoraco... ORPHA:230851
Craniofacioskeletal Syndrome
Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Barrel-shaped chest, Ventricular se... OMIM:300712
Marden-Walker Syndrome
Joint contracture of the hand, Micrognathia, Narrow mouth, Cryptorchidism, Arachnodactyly, Talipe... OMIM:248700
Sweeney-Cox Syndrome
Velopharyngeal insufficiency, Micrognathia, Narrow mouth, 2-5 finger cutaneous syndactyly, Bilate... OMIM:617746
Atelosteogenesis Type Ii
Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu valgum, Bell-shape... ORPHA:56304
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Natal tooth, Broad foot, Ventricular septal defect, Neonatal death, Epicant... OMIM:269860
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger... ORPHA:776
Martsolf Syndrome 1
Tooth malposition, Micrognathia, Cryptorchidism, Talipes equinovarus, Epicanthus, Pes planus, Bro... OMIM:212720
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defect, Epicanthus, 2-3 finger syn... ORPHA:435638
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Ventricular septal defect... OMIM:616897
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Avascular necrosis of the ca... OMIM:184100
Arthrogryposis, Distal, Type 1C
Pursed lips, Narrow mouth, Cryptorchidism, Hip contracture, Talipes equinovarus, Short neck, Blep... OMIM:619110
Scarf Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Pectus carinatum, Abnormal form of the ver... OMIM:312830
Arthrogryposis, Distal, Type 5D
Micrognathia, Open mouth, Narrow mouth, Limited elbow movement, Talipes equinovarus, Short neck, ... OMIM:615065
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Cryptorchidism, Mitral valve... OMIM:182212
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Micrognathia, Abnormal gastrointestinal tract morphology, Congenital d... ORPHA:1834
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Ventricular septal def... ORPHA:79345
Myasthenic Syndrome, Congenital, 19
Pectus carinatum, Gastroesophageal reflux, Retrognathia, Micrognathia, Pes cavus, Barrel-shaped c... OMIM:616720
Trigonocephaly 1
High, narrow palate, Lumbar hemivertebrae, Meckel diverticulum, Long philtrum, Upslanted palpebra... OMIM:190440
Multiple Pterygium Syndrome, X-Linked
Thin ribs, Joint dislocation, Cleft upper lip, Short finger, Hypoplastic heart, Micrognathia, Inc... OMIM:312150
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, T... ORPHA:251028
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ... OMIM:612813
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Pulmonary hypoplasia, Narrow chest, Micromelia, Long philtrum, Thoracic hypopla... OMIM:617895
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Cryptorchidism, Ventricular septal defect, Tal... OMIM:150250
Intellectual Disability, Wolff Type
Short distal phalanx of finger, Broad thumb, Limitation of joint mobility, Microretrognathia, Cam... ORPHA:3080
Chromosome 18P Deletion Syndrome
Tooth malposition, Toe syndactyly, Radial deviation of finger, Decreased testicular size, Microgn... OMIM:146390
Emanuel Syndrome
Aortic valve stenosis, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Delayed eru... OMIM:609029
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Retrognathia, Abnormal lung lobation, Abnormal heart morphology, Telecanthus... OMIM:263210
Atelosteogenesis Type I
Micrognathia, Talipes equinovarus, Abnormal fibula morphology, Joint dislocation, Thoracic hypopl... ORPHA:1190
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Anomalous origin of left coronary artery from the pulmonary artery, Death... OMIM:618845
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... OMIM:277590
Chromosome 2P16.1-P15 Deletion Syndrome
Joint contracture of the hand, Cryptorchidism, Arachnodactyly, Epicanthus, Everted lower lip verm... OMIM:612513
Acro-Renal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Congenital ... ORPHA:958
Acitretin/Etretinate Embryopathy
Abnormality of the calcaneus, Atrioventricular canal defect, Micrognathia, Median cleft palate, A... ORPHA:40366
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Abdominal situs inversus, Atrioventricular canal defect, Micrognathia, Upslanted palpe... OMIM:619123
Perching Syndrome
Respiratory distress, Cyanosis, Dysphagia, Joint contracture, Camptodactyly, High palate, Scoliosis OMIM:617055
Pseudoaminopterin Syndrome
Synostosis of carpal bones, Overlapping toe, Micrognathia, Cryptorchidism, Limited elbow movement... ORPHA:221120
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Narrow mouth, Patellar aplasia, Dysp... OMIM:265000
Atelosteogenesis, Type Iii
Rhizomelia, Tombstone-shaped proximal phalanges, Cervical kyphosis, Radial bowing, Elbow dislocat... OMIM:108721
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Congenital shortened small intestine, Micrognathia, Ventricular septal defect, Neonatal death, Bi... OMIM:265380
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Congenital bilateral ptosis, Congenital diaphragma... ORPHA:1692
Autosomal Recessive Multiple Pterygium Syndrome
Limitation of joint mobility, Finger syndactyly, Micrognathia, Abnormal gastrointestinal tract mo... ORPHA:2990
Verheij Syndrome
Short 5th finger, Clinodactyly, Long philtrum, Retrognathia, Branchial cyst, Joint hypermobility,... OMIM:615583
Meier-Gorlin Syndrome 1
Thin ribs, Joint contracture of the hand, Small hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Orofaciodigital Syndrome Type 10
Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Short neck, Tarsal synostosis, Mes... ORPHA:2756
Frontonasal Dysplasia 1
Joint contracture of the hand, Hypoplasia of the maxilla, Clinodactyly, Radial deviation of finge... OMIM:136760
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Delayed cranial suture cl... OMIM:175700
Shprintzen-Goldberg Syndrome
Elbow dislocation, Genu valgum, Micrognathia, Cryptorchidism, Mitral valve prolapse, Arachnodacty... ORPHA:2462
Diaphanospondylodysostosis
Bell-shaped thorax, Micrognathia, Decreased skull ossification, Talipes equinovarus, Epicanthus, ... OMIM:608022
Distal 22Q11.2 Microdeletion Syndrome
Toe syndactyly, Ankyloglossia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Bowing of... ORPHA:261330
Heart Defects-Limb Shortening Syndrome
Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm... ORPHA:1354
Three M Syndrome 3
Slender long bone, Long philtrum, Short thorax, Thick vermilion border, Increased vertebral heigh... OMIM:614205
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormal rib cage morphology, Abnormality of carpal bone ossification, Osteopenia, Hypoplasia of ... OMIM:608154
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect... OMIM:306955
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Bowen-Conradi Syndrome
Abnormal lung lobation, Camptodactyly of finger, Joint stiffness, Micrognathia, Cryptorchidism, D... ORPHA:1270
Cohen Syndrome
Genu valgum, Open mouth, Micrognathia, Mitral valve prolapse, Narrow palm, Pes planus, Neutropeni... OMIM:216550
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Bell-shaped thorax, Cryptorchidism, Anal atresia, Flat acetabular roof,... OMIM:616300
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect,... OMIM:612530
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Barrel-shaped chest, Hernia, Epicanthus, Short neck, Atrial septal defect, Pa... ORPHA:505248
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Cryptorchidism, Limited elbow movement, Ve... OMIM:134780
Cohen Syndrome
Finger syndactyly, Genu valgum, Open mouth, Micrognathia, Cryptorchidism, Narrow palm, Arachnodac... ORPHA:193
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Knee flexion contracture... OMIM:616531
Endocrine-Cerebroosteodysplasia
Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Cryptorchidism, Barrel-shap... OMIM:612651
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop... OMIM:252100
Van Maldergem Syndrome 2
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Cryptorchidism, Tal... OMIM:615546
Van Maldergem Syndrome 1
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus... OMIM:601390
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i... OMIM:151210
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Cryptorchidism, Broad foot, Bowing of the long bones, Short ne... OMIM:166250
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Preaxial hand polydactyly, Orofacial cleft, Scoliosis, Synophrys ORPHA:85287
Myhre Syndrome
Craniofacial hyperostosis, Narrow mouth, Cryptorchidism, Blepharophimosis, Mandibular prognathia,... ORPHA:2588
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Mandibular prognathia, Tooth agenesis,... ORPHA:1248
C Syndrome
Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Cryptorchidism, Thick ant... OMIM:211750
Chromosome 9P Deletion Syndrome
Dermatoglyphic variants, Micrognathia, Narrow mouth, Ventricular septal defect, Epicanthus, Short... OMIM:158170
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow ... ORPHA:85166
Anauxetic Dysplasia 2
Posterior wedging of vertebral bodies, Hypoplasia of the femoral head, Ovoid vertebral bodies, Cu... OMIM:617396
Larsen-Like Syndrome
Dental malocclusion, Joint dislocation, Radial deviation of the 4th finger, Malar flattening, Joi... OMIM:608545
Enthesitis-Related Juvenile Idiopathic Arthritis
Sacroiliac arthritis, Dilatation of the ventricular cavity, Abnormal thoracic spine morphology, A... ORPHA:85438
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Death in early adulthood, Open mouth, Abnormal mitral valve morphology... ORPHA:192
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome
Gastroesophageal reflux, Arthrogryposis multiplex congenita, Pursed lips, Long philtrum, Downslan... ORPHA:562528
Gracile Bone Dysplasia
Thin ribs, Slender long bone, Flared metaphysis, Ankyloglossia, Aniridia, Death in infancy, Decre... OMIM:602361
20P12.3 Microdeletion Syndrome
Pectus carinatum, Hypoplasia of the maxilla, Broad thumb, Long philtrum, Downslanted palpebral fi... ORPHA:261295
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Achondrogenesis Type 2
Hypoplastic ilia, Pulmonary hypoplasia, Narrow chest, Unossified sacrum, Micromelia, Absent verte... ORPHA:93296
Chromosome 22Q11.2 Deletion Syndrome, Distal
Highly arched eyebrow, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate OMIM:611867
Spondyloenchondrodysplasia With Immune Dysregulation
Rheumatoid arthritis, Lymphopenia, Barrel-shaped chest, Increased intervertebral space, Metaphyse... OMIM:607944
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Multiple rows of eyelashes, Broad long bones, Thick upper lip vermilion, Abnormal metatarsal morp... ORPHA:163654
3Mc Syndrome 1
Lambdoidal craniosynostosis, Caudal appendage, Ventricular septal defect, Radioulnar synostosis, ... OMIM:257920
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal form of the vertebral bodies, Abnormal tibia morphology, Lyti... ORPHA:83468
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... ORPHA:2021
Pycnodysostosis
Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Hepatosplenome... ORPHA:763
Acrodysostosis
Open bite, Open mouth, Cryptorchidism, Bowing of the long bones, Epicanthus, Abnormal metacarpal ... ORPHA:950
Pentalogy Of Cantrell
Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Polysplenia, Abnormal tibia morpho... ORPHA:1335
Triploidy
Narrow chest, Finger syndactyly, Intestinal malrotation, Abnormality of the gallbladder, Microgna... ORPHA:3376
Pallister-Hall-Like Syndrome
Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Anterior hypopituitarism, M... OMIM:241800
Neuralgic Amyotrophy
Bifid uvula, Short palpebral fissure, Narrow mouth, Epicanthus, Sprengel anomaly, Syndactyly, Sca... ORPHA:2901
Pde4D Haploinsufficiency Syndrome
Micrognathia, Cryptorchidism, Broad foot, Pes planus, Broad phalanx, Bilateral coxa valga, Narrow... ORPHA:439822
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Ventricular septal defect, Hernia, Epicanthus, Bicuspid aortic valve, Atri... ORPHA:363705
Dyssegmental Dysplasia, Silverman-Handmaker Type
Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Cryptorchidism, Talip... ORPHA:1865
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Supernumerary nipple, Overlapping toe, Micrognathia, Talipes equinovarus, Epicanthus, Sprengel an... OMIM:213980
Brachyolmia Type 3
Platyspondyly, Radial deviation of finger, Clinodactyly, Proximal femoral metaphyseal irregularit... OMIM:113500
Multiple Pterygium Syndrome, Lethal Type
Thin ribs, Joint dislocation, Short finger, Hypoplastic heart, Micrognathia, Increased susceptibi... OMIM:253290
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Broad thumb, Ventricular septal defect, Achalasia, Atrial septal defect, Short 5th finger, Sparse... OMIM:600987
Fryns Syndrome
Thin ribs, Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Short neck, ... OMIM:229850
Microphthalmia With Limb Anomalies
Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, S... ORPHA:1106
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Respiratory distress, Missing rib... ORPHA:66637
Primary Ciliary Dyskinesia
Atelectasis, Polysplenia, Intestinal malrotation, Atrial situs ambiguous, Pulmonary situs ambiguu... ORPHA:244
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Retrognathia, Intestinal malrotation, Micrognathia, Congenital diaphragm... OMIM:615524
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Rhizomelia, Broad thumb, Lumbar hyperlordosis, Barrel-shaped chest, Joint hypermobility, Short ne... ORPHA:171866
Feingold Syndrome 1
Micrognathia, Ventricular septal defect, Epicanthus, Everted lower lip vermilion, Blepharophimosi... OMIM:164280
Chromosome 10Q26 Deletion Syndrome
Toe syndactyly, Micrognathia, Cryptorchidism, Epicanthus, Short neck, Atrial septal defect, High ... OMIM:609625
Mmep Syndrome
Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Micropht... ORPHA:3434
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Ventricular septal def... OMIM:300373
Pseudodiastrophic Dysplasia
Platyspondyly, Elbow dislocation, Phalangeal dislocation, Omphalocele, Scoliosis ORPHA:85174
Fetal Akinesia Deformation Sequence 4
Retrognathia, 11 pairs of ribs, Micrognathia, Cryptorchidism, Prenatal death, Neonatal death, Sho... OMIM:618393
Fg Syndrome Type 1
Clinodactyly of the 2nd finger, Finger syndactyly, Facial wrinkling, Micrognathia, Open mouth, Cr... ORPHA:93932
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Cleft upper lip, Foot oligodactyly, Ventricular septal defect, Bilateral cleft pal... OMIM:601357
Acrocardiofacial Syndrome
Toe syndactyly, Finger syndactyly, Cryptorchidism, Ventricular septal defect, Abnormal metacarpal... ORPHA:2008
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal ... ORPHA:90653
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, Epicanthus, High palate, ... OMIM:614091
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Aspiration pneumonia, Irregular den... OMIM:602535
Chromosome 6Pter-P24 Deletion Syndrome
Narrow mouth, Ventricular septal defect, Telangiectasia, Epicanthus, Short neck, Atrial septal de... OMIM:612582
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Pectus carinatum, Narrow chest, Hypoplasia of the maxilla, Mandibular prognathia, Long foot, Long... OMIM:300676
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Genu recurvatum, Bruising susceptibility, Atrophic scars, Inguinal hernia, Mitral valve prolapse,... OMIM:225320
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Joint contracture of the hand, Long metacarpals, Long hallux, Mi... OMIM:600920
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Cryptorchidism, Ventricular septal defect, Epicanthus, S... OMIM:616894
Tarp Syndrome
Finger syndactyly, Clinodactyly, Extramedullary hematopoiesis, Micrognathia, Cryptorchidism, Tali... ORPHA:2886
Adams-Oliver Syndrome 6
Hepatic fibrosis, Foot oligodactyly, Cutis marmorata, Portal hypertension, Splenomegaly, Ventricu... OMIM:616589
Fryns Syndrome
Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Short neck, Anal atresia, High pal... ORPHA:2059
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Abnormal hand morphology, Mitral valve prolapse, Polycystic ovaries, Ventricular septal defect, B... ORPHA:371428
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Talipes, Epicanthus, Shor... ORPHA:508488
Congenital Myopathy 22B, Severe Fetal
Thin ribs, Micrognathia, Hip contracture, Talipes, Short neck, Hepatomegaly, High palate, Spinal ... OMIM:620369
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Brachydactyly, Microphthalmia OMIM:233270
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Ventricular septal defect, Bi... ORPHA:508498
Stuve-Wiedemann Syndrome 1
Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal rarefaction, Bowing... OMIM:601559
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Abnormal lung ... OMIM:615415
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,... ORPHA:2616
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Intestinal malrotation, Tetralogy of Fa... ORPHA:3426
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, Blepharophimosis, High palate, Short foot, Short metaca... OMIM:170390
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... OMIM:276820
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Micrognathia, Cryptorchidism, Talipes equinovarus, Large hands, High palate, Short foot, Talipes ... OMIM:300534
Vacterl/Vater Association
Aplasia/Hypoplasia of the radius, Finger syndactyly, Preaxial hand polydactyly, Anorectal anomaly... ORPHA:887
Tetrasomy 5P
Long philtrum, Recurrent respiratory infections, Respiratory distress, Overlapping toe, Micrognat... ORPHA:3309
Noonan Syndrome 13
Clinodactyly, Overlapping toe, Micrognathia, Cryptorchidism, Mitral valve prolapse, Epicanthus, S... OMIM:619087
Miller-Dieker Syndrome
Abnormal upper lip morphology, Epicanthus, Omphalocele, Clinodactyly of the 5th finger, Sacral di... ORPHA:531
Dysostosis, Stanescu Type
Carious teeth, Bowing of the long bones, Short neck, Increased bone mineral density, Hypoplasia o... ORPHA:1798
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, Blepharophimosis, Interrupted in... OMIM:206920
Short Stature And Facioauriculothoracic Malformations
Pectus carinatum, Cleft upper lip, Cervical ribs, Abnormal odontoid process morphology, Ventricul... OMIM:609654
Teebi Hypertelorism Syndrome 1
Coronal craniosynostosis, Small hand, Highly arched eyebrow, Natal tooth, Dental crowding, Long p... OMIM:145420
Mosaic Trisomy 14
Narrow chest, Lower limb asymmetry, Camptodactyly of finger, Micrognathia, Bilateral single trans... ORPHA:1703
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Cryptorchidism, Bowing of the lo... ORPHA:628
Trisomy 1Q
Toe syndactyly, Microretrognathia, Short thorax, Camptodactyly of finger, Preaxial hand polydacty... ORPHA:261344
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Periventricular Nodular Heterotopia
Gastroesophageal reflux, Patellar dislocation, Abnormal heart valve morphology, Joint hypermobili... ORPHA:98892
Geroderma Osteodysplasticum
Periodontitis, Beaking of vertebral bodies, Recurrent lower respiratory tract infections, Irregul... OMIM:231070
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect OMIM:615041
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Aortic valve stenosis, Prominent scalp veins, Subluxation of the s... ORPHA:536471
Thanatophoric Dysplasia
Platyspondyly, Abnormal ilium morphology, Narrow chest, Micromelia, Short thorax, Downslanted pal... ORPHA:2655
Cardioacrofacial Dysplasia 1
Conical tooth, Hypoplasia of the maxilla, Diastema, Atrioventricular canal defect, Genu valgum, L... OMIM:619142
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Micrognathia, Cryptorchidism, Talipes equinovarus, Radioulnar sy... ORPHA:1988
Keipert Syndrome
Short distal phalanx of finger, Broad distal phalanx of finger, Broad thumb, Hypoplasia of the ma... ORPHA:2662
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Carious teeth, Aortic root aneurysm, Dysplasia of the femoral head, Mic... ORPHA:536467
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Lowry-Maclean Syndrome
Micrognathia, Congenital diaphragmatic hernia, Delayed eruption of primary teeth, Midgut malrotat... ORPHA:2409
Postaxial Acrofacial Dysostosis
Supernumerary vertebrae, Supernumerary nipple, Micrognathia, Cryptorchidism, Radioulnar synostosi... OMIM:263750
Focal Dermal Hypoplasia
Erythema, Toe syndactyly, Finger syndactyly, Open bite, Congenital diaphragmatic hernia, Ventricu... ORPHA:2092
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Cryptorchidism, Talipes equinovar... OMIM:619148
Cornelia De Lange Syndrome 1
Cutis marmorata, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septa... OMIM:122470
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Short tibia, Micrognathia, Absent gallbladder, Neonatal death, Short neck, Anal atre... OMIM:617925
Congenital Vertical Talus
Abnormality of the foot musculature, Equinus calcaneus, Distal arthrogryposis, Pes planus, Lower ... ORPHA:178382
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Tooth malposition, Hypoplasia of the maxilla, Broad phalanges of the hand,... OMIM:277600
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Hypoplasia of the maxilla, Broad thumb, Dental crowding, Ascending tubular aorta aneurysm, Microg... OMIM:309520
Trisomy 13
Bilateral single transverse palmar creases, Cryptorchidism, Ventricular septal defect, Hernia, At... ORPHA:3378
Meckel Syndrome, Type 1
Postaxial foot polydactyly, Natal tooth, Clinodactyly, Micrognathia, Cryptorchidism, Bowing of th... OMIM:249000
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Sparse eyebrow, Highly arched eyebrow, Limitation of joint mobility... ORPHA:178303
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial septal defect, Polysyndactyly... OMIM:263520
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Koolen-De Vries Syndrome
Aortic root aneurysm, Open mouth, Cryptorchidism, Narrow palm, Ventricular septal defect, Epicant... OMIM:610443
Marfan Syndrome
Aortic root aneurysm, Premature osteoarthritis, Micrognathia, Reduced subcutaneous adipose tissue... OMIM:154700
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Absent eyelashes, Talipes equinovarus... OMIM:263650
Hypoglossia With Situs Inversus
Microglossia, Polysplenia, Respiratory distress, Micrognathia, Narrow mouth, Situs inversus total... OMIM:612776
Nager Syndrome
Sparse lower eyelashes, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia o... ORPHA:245
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Facial wrinkling, Micrognathia, Cryptor... OMIM:305450
Microgastria-Limb Reduction Defect Syndrome
Elbow dislocation, Abnormality of the spleen, Esophagitis, Perineal fistula, Abnormal metacarpal ... ORPHA:2538
Congenital Alveolar Capillary Dysplasia
Abnormal vertebral morphology, Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, V... ORPHA:210122
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Epicanthus, Short neck, Abnormal bone ossification, Flattened epiphysis, Microphthalmia, High pal... ORPHA:163649
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,... OMIM:609052
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Kyphosis, Increased bone mineral density, Short humerus, Lateral femoral bowing, Bowi... OMIM:239000
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Pectus carinatum, Hypoplasia of the maxilla, Broad thumb, Broad hallux, Long philtrum, Downslante... ORPHA:481152
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Telecanthus, Hallux valgus, Cone-shaped epiphyses of the 4th toe, Cone... ORPHA:397973
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Unbalanced atrioventricular canal defect, Toe syndactyly, Intestinal malrotation, Thoracic aortic... OMIM:619657
Costello Syndrome
Micrognathia, Barrel-shaped chest, Limited elbow movement, Ventricular septal defect, Talipes equ... OMIM:218040
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Preaxial foot polydactyly, Abnormal palate morphology,... ORPHA:1540
Koolen-De Vries Syndrome
Cryptorchidism, Arachnodactyly, Epicanthus, Bicuspid aortic valve, Everted lower lip vermilion, B... ORPHA:96169
Arterial Tortuosity Syndrome
Aortic root aneurysm, Esophagitis, Arachnodactyly, Blepharophimosis, Hip dislocation, Short palpe... ORPHA:3342
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia, Decreased skull ossifica... OMIM:601163
Fetal Valproate Spectrum Disorder
Downturned corners of mouth, Long philtrum, Narrow mouth, Epicanthus, Omphalocele, Thin vermilion... ORPHA:1906
Melnick-Needles Syndrome
Tooth malposition, Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathi... OMIM:309350
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacar... OMIM:166300
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Overlapping toe, Open mouth, Epicanthus, Flexion contracture of finger, Narrow palpebral fissure,... ORPHA:254528
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal heart valve morphology... ORPHA:577
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Slender long bone, Abnormal form of the vertebral bodies, Abnormal ... ORPHA:1486
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Ankyloblepharon, Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Whistling Face Syndrome, Recessive Form
Micrognathia, Narrow mouth, Talipes equinovarus, Epicanthus, Short neck, Blepharophimosis, High p... OMIM:277720
Osteogenesis Imperfecta, Type Xiii
Arachnodactyly, Dislocated radial head, Pectus carinatum, Wide distal femoral metaphysis, Long ey... OMIM:614856
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, Split hand, Camptodactyly, High palat... OMIM:246560
Jacobsen Syndrome
Aortic valve stenosis, Toe syndactyly, Finger syndactyly, Long hallux, Cryptorchidism, Ventricula... ORPHA:2308
Esophageal Atresia
Abnormal vertebral morphology, Clinodactyly, Esophagitis, Abnormal gastrointestinal tract morphol... ORPHA:1199
Tonne-Kalscheuer Syndrome
Broad thumb, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth, Down... OMIM:300978
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Platyspondyly, Thoracic hypopla... OMIM:187600
Microcephaly-Micromelia Syndrome
Narrow chest, Short palpebral fissure, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micro... OMIM:251230
Holzgreve Syndrome
Hypoplastic left heart, Hand polydactyly, Cleft palate, Cleft upper lip OMIM:236110
8P23.1 Microdeletion Syndrome
Broad thumb, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Epicanthus, Short nec... ORPHA:251071
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Polys... OMIM:208530
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, High ... OMIM:618363
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Omphalocele, Death in infancy, Cleft palate OMIM:258320
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Clinodactyly, Camptodactyly of finger, Decreased testicular size, Cryp... ORPHA:85279
Microphthalmia, Syndromic 8
Short palpebral fissure, Cleft upper lip, Split foot, Orofacial cleft, Blepharophimosis, Micropht... OMIM:601349
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Highly arched eyebrow, Toe syndactyly, Sparse lateral eyebrow, Long philtrum, M... ORPHA:261120
Achondroplasia
Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral... OMIM:100800
Simpson-Golabi-Behmel Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Supernumerary nipple, Congenital diaphragmatic he... ORPHA:373
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Erythema, Hypoplastic scapulae, Finger syndactyly, Micrognathia, Single ventricle, 2-5 finger syn... OMIM:308050
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Velopharyngeal insufficiency, Overlapping toe, Micrognathia, Congen... OMIM:154400
Myhre Syndrome
Aortic valve stenosis, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing, Overla... OMIM:139210
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Short foo... OMIM:601812
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Respiratory tract infection, 2-3 toe syndactyly, Ptosis, Long fingers,... OMIM:218000
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Ankyloblepharon, Cleft palate, Cleft upper lip OMIM:106250
Severe X-Linked Intellectual Disability, Gustavson Type
Congenital hip dislocation, Recurrent upper respiratory tract infections, Contractures of the lar... ORPHA:3078
Rubinstein-Taybi Syndrome 1
Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, Narrow mouth, ... OMIM:180849
Catel-Manzke Syndrome
Ulnar deviation of the 2nd finger, Genu valgum, Narrow mouth, Micrognathia, Cryptorchidism, Ventr... OMIM:616145
Lethal Congenital Contracture Syndrome 11
Microretrognathia, Retrognathia, Elbow flexion contracture, Distal arthrogryposis, Camptodactyly,... OMIM:617194
Pseudotrisomy 13 Syndrome
Postaxial foot polydactyly, Cleft upper lip, 11 pairs of ribs, Median cleft palate, Upslanted pal... OMIM:264480
Robinow Syndrome, Autosomal Recessive 2
Abnormality of the dentition, Broad thumb, Clinodactyly, Prominent fingertip pads, Sandal gap, Br... OMIM:618529
Recombinant Chromosome 8 Syndrome
Abnormality of the dentition, Joint contracture of the hand, Downturned corners of mouth, Thick l... OMIM:179613
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of finger, Hypoplasia of the maxilla, Camptodactyly of finger, Downslanted palpeb... ORPHA:1529
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Cutis marmorata, Congenital diaphragmatic hernia, Cryptorchi... OMIM:617602
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Tooth malposition, Broad phalanges of the hand, Ventricular septal defect,... OMIM:608328
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Toe syndactyly, Overlapping toe, Cryptorchidism, Ventricular septal defect... OMIM:601808
Burn-Mckeown Syndrome
Bifid uvula, Short palpebral fissure, Cleft upper lip, Lower eyelid coloboma, Narrow mouth, Micro... OMIM:608572
Mueller-Weiss Syndrome
Joint subluxation, Tibiofibular diastasis, Equinovarus deformity, Sclerosis of foot bone, Abnorma... ORPHA:566943
Arthrogryposis, Distal, Type 11
Talipes equinovarus, Absent proximal finger flexion creases, Limited pronation/supination of fore... OMIM:620019
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction
Prune belly, Cervical ribs, Preaxial hand polydactyly, Talipes equinovarus, Sprengel anomaly, Tho... OMIM:601389
Constricting Bands, Congenital
Abnormal rib cage morphology, Tessier cleft, Cleft upper lip, Abnormal lung lobation, Eyelid colo... OMIM:217100
Primary Pulmonary Hypoplasia
Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypoplasia, Microgn... ORPHA:2257
Gordon Syndrome
Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Cryptorchidism, Talipes... ORPHA:376
2Q24 Microdeletion Syndrome
Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Camptodactyly of finger, Downslanted ... ORPHA:1617
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
22Q11.2 Deletion Syndrome
Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Arachnodact... ORPHA:567
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Mandibular prognathia, Cone-shaped epiphysis, Unilateral cleft lip, Delayed cranial suture closur... ORPHA:2511
Intellectual Developmental Disorder, Autosomal Recessive 73
Osteopenia, Widely spaced teeth, Thick upper lip vermilion, Downslanted palpebral fissures, Singl... OMIM:619717
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Abnormality of the dentition, Pectus carinatum, Joint stiffness, Bilateral single transverse palm... ORPHA:1548
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Cleft upper lip, Irregular dentition, Cleft lower lip, Median cleft upper lip, Fusion o... ORPHA:401942
Achondrogenesis Type 1A
Narrow chest, Micromelia, Long philtrum, Abnormal enchondral ossification, Umbilical hernia, Micr... ORPHA:93299
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Gastroesophageal reflux, Abnormal heart morphology, Micrognathia, ... ORPHA:261197
Achondrogenesis Type 1B
Narrow chest, Micromelia, Long philtrum, Abnormal enchondral ossification, Short thorax, Umbilica... ORPHA:93298
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protruding tongue, B... ORPHA:50945
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Ventricular septal defect, Cervical C2/C3 vertebral fusion, Short neck, Scoliosi... OMIM:214300
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Downslanted palpebral fissures, Tetralogy of Fallo... OMIM:220210
Congenital Myopathy 17
Hand clenching, Clinodactyly, Overlapping toe, Overlapping fingers, High palate, Downslanted palp... OMIM:618975
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Camptodactyly of finger, Sparse or absent eyelashes,... ORPHA:1794
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Cervical ribs, Intestinal malrotation, Micrognathia, Orofacial cleft, Deep philtrum, Incomplete c... ORPHA:77300
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Bifid uvula, Small hand, Clinodactyly, Micrognathia, Narrow mouth, Cryptorchidism, Joint hypermob... ORPHA:96184
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Short distal phalanx of finger, Cleft palate, Ventricular septal defect OMIM:601355
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Otopalatodigital Syndrome Type 1
Short distal phalanx of finger, Synostosis of carpal bones, Elbow dislocation, Short thumb, Sanda... ORPHA:90650
Recombinant 8 Syndrome
Micrognathia, Patellar aplasia, Bilateral single transverse palmar creases, Cryptorchidism, Ventr... ORPHA:96167
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Zechi-Ceide Syndrome
Short distal phalanx of finger, Short palpebral fissure, Sandal gap, Cleft upper lip, Long foot, ... OMIM:612916
Acalvaria
Abnormal lung lobation, Talipes, Omphalocele, Postaxial hand polydactyly, Cleft palate ORPHA:945
Smith-Lemli-Opitz Syndrome
Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalgus, Cutis marmorata, Micrognat... ORPHA:818
Orofaciodigital Syndrome Xvii
High, narrow palate, Clinodactyly, Clubbing of fingers, Tetralogy of Fallot, Short middle phalanx... OMIM:617926
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Microglossia, Microretrognathia, Abn... ORPHA:1307
Eng-Strom Syndrome
Camptodactyly of finger, Ventricular septal defect, Brachydactyly, Arthritis, Abnormal cardiac se... ORPHA:1937
Arthrogryposis, Distal, Type 3
Overlapping toe, Cutaneous finger syndactyly, Micrognathia, Cryptorchidism, Talipes equinovarus, ... OMIM:114300
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Avascular necrosis of the capital femoral epiphysis, Overlapping toe, Ventricular septal defect, ... OMIM:614262
Nemaline Myopathy 9
Narrow chest, Arthrogryposis multiplex congenita, Micrognathia, Ventricular septal defect, High p... OMIM:615731
Branchioskeletogenital Syndrome
Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Hypoplasia of the maxilla, Downturned co... ORPHA:1299
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Micrognathia, Aplasia of the left hemidiap... ORPHA:2437
Holt-Oram Syndrome
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Abnormal metaca... ORPHA:392
Codas Syndrome
Hypoplasia of the odontoid process, Genu valgum, Cryptorchidism, Ventricular septal defect, Lumba... OMIM:600373
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short nec... OMIM:253000
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula... OMIM:200980
Ehlers-Danlos Syndrome, Classic Type, 1
Aortic root aneurysm, Poor wound healing, Mitral valve prolapse, Epicanthus, Pes planus, Fragile ... OMIM:130000
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Osteopenia, Hypoplasia of the max... OMIM:620099
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Tetralogy of Fallot, Abnormal mitral valve m... ORPHA:1919
Mucopolysaccharidosis Type 1
Hernia, Everted lower lip vermilion, Joint dislocation, Hypertrophic cardiomyopathy, Inguinal her... ORPHA:579
Trisomy 18P
High, narrow palate, Highly arched eyebrow, Bilateral cryptorchidism, Abnormal foot morphology, T... ORPHA:1715
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Cry... OMIM:256520
Diamond-Blackfan Anemia 6
Bifid uvula, Ventricular hypertrophy, Increased mean corpuscular volume, Short thumb, Cleft upper... OMIM:612561
Congenital Arthrogryposis With Anterior Horn Cell Disease
Hand clenching, Scoliosis, Retrognathia, Downslanted palpebral fissures, Micrognathia, Cryptorchi... OMIM:611890
Distal Triplication 15Q
Retrognathia, Abnormal sternum morphology, Hydrocele testis, Abnormal heart morphology, Telecanth... ORPHA:314588
Silver-Russell Syndrome
Gastroesophageal reflux, Dental crowding, Sandal gap, Abnormality of the calcaneus, Downturned co... ORPHA:813
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Thin ribs, Overlapping toe, Contracture of the distal interphalangeal joint of the fingers, Narro... ORPHA:83617
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Bicuspid aortic valv... ORPHA:1120
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ara... ORPHA:280
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Overlapping toe, Micrognathia, Talipes, Epicanthus, Short neck, Bicuspid aortic valv... OMIM:612474
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal shoulder morphology, Ventricular septal defect, Cer... ORPHA:2345
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the pons, Type II lissencephaly, Cerebellar dysplasia, Cerebellar cyst, Death in ch... OMIM:613153
Microphthalmia, Syndromic 9
Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal defect, Neonata... OMIM:601186
Conotruncal Heart Malformations
Broad hallux, Complete atrioventricular canal defect, Truncus arteriosus, Postaxial polydactyly, ... OMIM:217095
Neuropathy, Congenital, With Arthrogryposis Multiplex
Areflexia of lower limbs, Hyperlordosis, Hyporeflexia of lower limbs, Calcaneovalgus deformity, A... OMIM:162370
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Platyspondyly, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cupping, Di... OMIM:300863
Keratoconus Posticus Circumscriptus
Cleft upper lip, Limited elbow extension and supination, Short neck, Brachydactyly, Clinodactyly ... OMIM:244600
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Retrognathia, Finger clinodactyly, Inguinal hernia, Cryptorchidism, Supernumerary ribs, Epicanthu... ORPHA:2958
Zttk Syndrome
Small hand, Narrow mouth, Absent gallbladder, Ventricular septal defect, Epicanthus, Atrial septa... OMIM:617140
Pierpont Syndrome
Prominent fingertip pads, Short toe, Widely spaced teeth, Short finger, Telecanthus, Joint hyperm... ORPHA:487825
Cutis Laxa, Autosomal Recessive, Type Ic
Micrognathia, Death in childhood, Rectal prolapse, Osteopenia, Gastroesophageal reflux, Tracheoma... OMIM:613177
Dyssegmental Dysplasia, Silverman-Handmaker Type
Anisospondyly, Micromelia, Thoracic hypoplasia, Pterygium, Micrognathia, Narrow mouth, Malar flat... OMIM:224410
Thomas Syndrome
Hypoplastic left heart, Cleft palate, Cleft upper lip, Downslanted palpebral fissures ORPHA:3316
Frontometaphyseal Dysplasia 2
Broad thumb, Cryptorchidism, Hip contracture, Talipes equinovarus, Bicuspid aortic valve, High pa... OMIM:617137
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Highly arched eyebrow, Toe syndactyly, Short thumb, Anteriorly pla... ORPHA:2319
Basal Cell Nevus Syndrome 1
Palmar pits, Short distal phalanx of the thumb, Cardiac rhabdomyoma, Sprengel anomaly, Plantar pi... OMIM:109400
Fetal Encasement Syndrome
Upper limb undergrowth, Tetralogy of Fallot, Congenital diaphragmatic hernia, Lower limb undergro... OMIM:613630
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormal lip morphology, Aplasia/Hypoplasia of the tongue,... ORPHA:2759
Distal Xq28 Microduplication Syndrome
Recurrent upper respiratory tract infections, Hypoplasia of the maxilla, Dental crowding, Clinoda... ORPHA:293939
Jacobsen Syndrome
Micrognathia, Cryptorchidism, Ventricular septal defect, Epicanthus, Short neck, Atrial septal de... OMIM:147791
Frank-Ter Haar Syndrome
Delayed cranial suture closure, Mitral valve prolapse, Ventricular septal defect, Bowing of the l... OMIM:249420
Prune Belly Syndrome
Congenital hip dislocation, Volvulus, Intestinal malrotation, Decreased testicular size, Tetralog... ORPHA:2970
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... OMIM:208540
Jeune Syndrome
Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e... ORPHA:474
Split hand/foot malformation 1 (SHFM1)
Toe syndactyly, Lacrimal duct aplasia, Cutaneous finger syndactyly, 2-3 toe syndactyly, Median cl... DECIPHER:46
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Abnormality of the dentition, Osteolysis ORPHA:2776
2Q37 Microdeletion Syndrome
Small hand, Toe syndactyly, Finger syndactyly, Supernumerary nipple, Bilateral single transverse ... ORPHA:1001
Genitopalatocardiac Syndrome
Cleft upper lip, Right aortic arch, Ventricular septal defect, Transposition of the great arterie... OMIM:231060
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Natal tooth, Hypoplastic iliac wing, Genu valgum, Cryptorchidism, Tal... OMIM:225500
Perlman Syndrome
High, narrow palate, Retrognathia, Abnormal pancreas morphology, Abnormal upper lip morphology, M... ORPHA:2849
Nablus Mask-Like Facial Syndrome
Joint contracture of the hand, Clinodactyly, Narrow mouth, Cryptorchidism, Sparse eyelashes, Abse... OMIM:608156
Isolated Osteopoikilosis
Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv... ORPHA:166119
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplastic iliac wing, Jaundice, Foot polydactyly, Bile duct proliferation, Cone-shaped epiphyse... OMIM:208500
Bohring-Opitz Syndrome
Supernumerary nipple, Overlapping toe, Micrognathia, Narrow mouth, Bilateral cleft palate, Ventri... OMIM:605039
Ulnar-Mammary Syndrome
Cryptorchidism, Ventricular septal defect, Abnormal metacarpal morphology, Sprengel anomaly, Apla... ORPHA:3138
Craniolenticulosutural Dysplasia
Narrow chest, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtrum, Posterior... ORPHA:50814
Peroxisome Biogenesis Disorder 1A (Zellweger)
Bell-shaped thorax, Micrognathia, Protruding tongue, Cryptorchidism, Ventricular septal defect, D... OMIM:214100
Cleft-Limb-Heart Malformation Syndrome
Syndactyly, Truncus arteriosus OMIM:215850
Microcephaly-Capillary Malformation Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Patent foramen ovale, Ve... OMIM:614261
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, He... ORPHA:185
Juberg-Hayward Syndrome
Highly arched eyebrow, Cleft upper lip, Anteriorly placed anus, Decreased response to growth horm... OMIM:216100
Cutis Laxa, Autosomal Recessive, Type Iie
Highly arched eyebrow, Long philtrum, Thick lower lip vermilion, Downslanted palpebral fissures, ... OMIM:619451
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Downslanted palpebral fissures, Telecanthus, Ptosis, Split hand... ORPHA:2117
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Mitral valve prolapse, Radioulnar synostosis, Microphthalmia, Pat... ORPHA:2712
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen... OMIM:184250
Raine Syndrome
Natal tooth, Long hallux, Micrognathia, Narrow mouth, Protruding tongue, Neonatal death, Bowing o... OMIM:259775
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Natal tooth, Distal shortening of limbs, Cryptorchidi... OMIM:146510
2P15P16.1 Microdeletion Syndrome
Supernumerary nipple, Narrow mouth, Bilateral single transverse palmar creases, Epicanthus, Pes p... ORPHA:261349
Distal Monosomy 7Q36
Micrognathia, Bilateral single transverse palmar creases, Upslanted palpebral fissure, Symphalang... ORPHA:1636
Kyphomelic Dysplasia
Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp... OMIM:211350
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flattening, Abnormal pala... ORPHA:93262
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Bell-shaped thorax, Death in childhood, Short neck, Tachypnea, F... OMIM:613320
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Downslanted palpebral fissures, Eyelid coloboma, Malar flattening, Abnormal digi... OMIM:268850
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Herniation ... OMIM:601216
Developmental And Epileptic Encephalopathy 89
Highly arched eyebrow, Narrow chest, Sparse eyebrow, Microretrognathia, Long philtrum, Downslante... OMIM:619124
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Hepatitis, Arteriovenous malformation, Umbilical he... ORPHA:584
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome
Downslanted palpebral fissures, Bilateral cryptorchidism, Thin upper lip vermilion, Craniosynosto... ORPHA:314575
Alg9-Cdg
Delayed cranial suture closure, Micrognathia, Ventricular septal defect, Talipes equinovarus, Sho... ORPHA:79328
Autosomal Recessive Robinow Syndrome
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Broad thumb, Op... ORPHA:1507
Ehlers-Danlos Syndrome, Classic-Like, 2
Cellulitis, Aortic root aneurysm, Poor wound healing, Micrognathia, Cryptorchidism, Mitral valve ... OMIM:618000
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Multiple pterygia, Short thorax, Arthrogryposis multiple... OMIM:601809
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Supernumerary nipple, Micrognathia, Inguinal hernia, Submucous cleft hard p... OMIM:619122
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Narro... OMIM:200990
Verloove Vanhorick-Brubakk Syndrome
Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,... ORPHA:3429
Orofaciodigital Syndrome Viii
Recurrent aspiration pneumonia, Short tibia, Telecanthus, Polydactyly, Median cleft upper lip, Hi... OMIM:300484
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A... ORPHA:3082
Monosomy 5P
Small hand, Microretrognathia, Finger syndactyly, Downslanted palpebral fissures, Recurrent fract... ORPHA:281
Stankiewicz-Isidor Syndrome
Absent thumb, Short thumb, Retrognathia, Micrognathia, Cryptorchidism, Ventricular septal defect,... OMIM:617516
Prieto Syndrome
Abnormality of the dentition, Clinodactyly, Radial deviation of finger, Retrognathia, 11 pairs of... OMIM:309610
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of toes, Downslanted palpebral fissures, Tetralogy of Fallot, Micrognathia, Cryptorchidi... ORPHA:3304
Miller-Dieker Lissencephaly Syndrome
Joint contracture of the hand, Thick upper lip vermilion, Micrognathia, Cryptorchidism, Epicanthu... OMIM:247200
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Limitation of joint mobility, Camptodactyly of finger, Abnormal pleura morphology, Micrognathia, ... ORPHA:2570
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Delayed eruption of teeth, Wormian bones, Omphalocele, Anemia, Macrog... OMIM:614450
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Micromelia, Short thorax, Abnormal form of the verteb... ORPHA:1801
Cardioacrofacial Dysplasia 2
Common atrium, Conical tooth, Postaxial foot polydactyly, Narrow chest, Atrioventricular canal de... OMIM:619143
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Anal atresia, Cone-shaped epiphysis, Thoracic hypoplasia, Hamartoma of tongu... OMIM:613091
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Pes planus, Flattened epiphysis, High palate, Dislocated radial he... OMIM:612350
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Aortic root aneurysm, Abnormal tibia morphology, Enlarged vertebral ped... ORPHA:666
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... OMIM:314390
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Osteopenia, Kyphosis, Pathologic fracture, Increased susceptibility to fractures, ... OMIM:259770
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal joint morphology, Genu valgum,... ORPHA:93351
Mosaic Trisomy 16
Short forearm, Clinodactyly, Ventricular septal defect, Single coronary artery origin, Atrial sep... ORPHA:1708
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Restrictive Dermopathy 1
Natal tooth, Increased anterioposterior diameter of thorax, Micrognathia, Narrow mouth, Sparse ey... OMIM:275210
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Abnormal sternum morphology, Intestinal malrotation, Abnormal heart morpholo... ORPHA:2847
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi... ORPHA:1452
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Gastroesophageal reflux, Horizontal eyebrow, Lumbar hyperlordosis, Equinus calcaneus, Almond-shap... ORPHA:522077
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Highly arched eyebrow, Long philtrum, Cleft upper lip, Thin upper lip verm... OMIM:243310
Trisomy 8Q
Camptodactyly of finger, Joint stiffness, Micrognathia, Long thorax, Upslanted palpebral fissure,... ORPHA:1752
Monosomy 18P
Tooth malposition, Carious teeth, Downturned corners of mouth, Micrognathia, Kyphoscoliosis, Hypo... ORPHA:1598
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Hyperplasia of the maxilla, Limited elbow... OMIM:300280
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout... OMIM:257850
Weiss-Kruszka Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Abnormal heart morphology, Exaggerated cup... ORPHA:502430
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Intellectual Developmental Disorder, X-Linked, Syndromic, Siderius Type
Cleft lip, Upslanted palpebral fissure, Arachnodactyly, Long toe, Pes planus, Large hands, Synoph... OMIM:300263
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Preaxial hand polydactyly, Telecanthus, Micrognathia, Upslanted palpeb... ORPHA:79113
Alg3-Cdg
Osteopenia, Cardiomyopathy, Metaphyseal chondrodysplasia, Abnormality of the gastrointestinal tra... ORPHA:79321
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes
Pectus carinatum, Small hand, Clinodactyly, Long philtrum, Thick eyebrow, Upslanted palpebral fis... OMIM:614684
3Mc Syndrome 2
Abnormal vertebral morphology, Highly arched eyebrow, Caudal appendage, Downturned corners of mou... OMIM:265050
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conical tooth, Cleft lip, Palmoplantar keratoderma, Ankyloblepharon, Selective tooth agenesis, Cl... OMIM:106260
Hypertelorism, Microtia, Facial Clefting Syndrome
Short 5th finger, Abnormal vertebral morphology, Tessier cleft, Abnormality of the vertebral colu... OMIM:239800
Stickler Syndrome
Open bite, Genu valgum, Micrognathia, Mitral valve prolapse, Arachnodactyly, Short hard palate, E... ORPHA:828
Renpenning Syndrome
High, narrow palate, Mandibular prognathia, Macrodontia, Joint stiffness, Thin eyebrow, Narrow mo... ORPHA:3242
Pierpont Syndrome
Prominent fingertip pads, Short toe, Widely spaced teeth, Short finger, Unilateral narrow palpebr... OMIM:602342
7Q31 Microdeletion Syndrome
Short palpebral fissure, Gastroesophageal reflux, Hypoplasia of the maxilla, Clinodactyly of the ... ORPHA:251061
Osteogenesis Imperfecta, Type V
Platyspondyly, Osteopenia, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Ver... OMIM:610967
Tetraamelia Syndrome 1
Abnormal clavicle morphology, Abnormal scapula morphology, Cleft upper lip, Hypoplastic pelvis, M... OMIM:273395
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Single transverse palmar crease, Neonatal death, 2-3 toe syndactyly, Talipes e... OMIM:236500
Saethre-Chotzen Syndrome
Broad thumb, Finger syndactyly, Delayed cranial suture closure, Open bite, Bilateral single trans... ORPHA:794
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Carious teeth, Toe syndactyly, Finger syndactyly, Micrognathia, Bilateral single transverse palma... ORPHA:3253
Trisomy 18
Narrow mouth, Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Crypto... ORPHA:3380
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,... OMIM:269250
Holoprosencephaly
Abnormality of the spleen, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal de... ORPHA:2162
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Telecanthus, Upslanted palpebral fissure, Ventricular septal defect, Thin upper lip vermilion, Ep... OMIM:601927
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Pulmonary hypoplasia, Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dysplas... OMIM:615503
Meckel Syndrome, Type 8
Cleft upper lip, Anophthalmia, Polydactyly, Short neck, Microphthalmia, Pericardial effusion, Cle... OMIM:613885
Kleefstra Syndrome
Limitation of joint mobility, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, He... ORPHA:261494
Desbuquois Syndrome
Genu recurvatum, Small hand, Patellar dislocation, Elbow dislocation, Camptodactyly of finger, Be... ORPHA:1425
Thrombocytopenia, Paris-Trousseau Type
Radial deviation of finger, Clinodactyly, Micrognathia, Ptosis, Thrombocytopenia, Pyloric stenosis OMIM:188025
Cerebrofaciothoracic Dysplasia
Narrow chest, Cleft upper lip, Downslanted palpebral fissures, Thick eyebrow, Vertebral segmentat... ORPHA:1394
Roifman Syndrome
Hip contracture, Ventricular septal defect, Hepatomegaly, Short metacarpal, Irregular vertebral e... OMIM:616651
CantĂș Syndrome
Finger syndactyly, Epicanthus, Short neck, Short hallux, Patent ductus arteriosus, Ovoid vertebra... ORPHA:1517
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Downslanted palpebral fissures, Polysplenia, Coronary artery fistula, Tented upp... OMIM:614294
Fetal Akinesia Deformation Sequence 1
Thin ribs, Micrognathia, Narrow mouth, Cryptorchidism, Hip contracture, Talipes equinovarus, Shor... OMIM:208150
Autosomal Recessive Spondylocostal Dysostosis
Scoliosis, Finger syndactyly, Long philtrum, Camptodactyly of finger, Short thorax, Abnormal form... ORPHA:2311
Opitz Gbbb Syndrome
Natal tooth, Aortic root aneurysm, Ankyloglossia, Micrognathia, Congenital diaphragmatic hernia, ... ORPHA:2745
Orofaciodigital Syndrome Type 5
Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Non-midline clef... ORPHA:2919
Fetal Akinesia Deformation Sequence
Camptodactyly of finger, Pterygium, Micrognathia, Multiple joint contractures, Cryptorchidism, In... ORPHA:994
Fetal Alcohol Syndrome
Joint stiffness, Telecanthus, Congenital diaphragmatic hernia, Microdontia, Thin upper lip vermil... ORPHA:1915
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Meier-Gorlin Syndrome 7
Narrow mouth, Cryptorchidism, Aplasia/Hypoplasia of the patella, Ventricular septal defect, Atria... OMIM:617063
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Ulnar deviation of finger, Hypoplasia of the maxilla, Mandibular prognathia,... ORPHA:1101
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hormone-releasing hormo... OMIM:101800
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
High, narrow palate, Tessier cleft, Broad proximal phalanges of the hand, Cleft upper lip, Bilate... OMIM:607597
Rapp-Hodgkin Syndrome
Carious teeth, Velopharyngeal insufficiency, Supernumerary nipple, Narrow mouth, Sparse eyelashes... OMIM:129400
Acrocephalopolydactylous Dysplasia
Hepatic fibrosis, Micromelia, Polysplenia, Hypoplastic colon, Upslanted palpebral fissure, Epican... OMIM:200995
Facial Clefting, Oblique, 1
Tessier number 4 facial cleft, Cleft palate, Cleft upper lip, Microphthalmia OMIM:600251
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process,... OMIM:253010
Autosomal Dominant Spondylocostal Dysostosis
Short thorax, Abnormal sacrum morphology, Upslanted palpebral fissure, Vertebral segmentation def... ORPHA:1797
Marden-Walker Syndrome
Micrognathia, Narrow mouth, Ventricular septal defect, Arachnodactyly, Radioulnar synostosis, Abn... ORPHA:2461
Mucopolysaccharidosis Type 4
Carious teeth, Genu valgum, Bowing of the long bones, Hernia, Short neck, Pectus carinatum, Joint... ORPHA:582
Myoectodermal Gonadal Dysgenesis Syndrome
Bifid distal phalanx of toe, Elevated circulating luteinizing hormone level, Cutaneous finger syn... OMIM:618419
Achondrogenesis
Narrow chest, Abnormal enchondral ossification, Micromelia, Long philtrum, Umbilical hernia, Micr... ORPHA:932
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu... ORPHA:85184
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, A... OMIM:113000
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Sandal gap, Long philtrum, Talipes valgus, Downslanted palpebral fissures, ... OMIM:616652
Meier-Gorlin Syndrome 3
Micrognathia, Narrow mouth, Patellar aplasia, Cryptorchidism, Aplasia/Hypoplasia of the patella, ... OMIM:613803
Gastrointestinal Defects And Immunodeficiency Syndrome 1