Gene: Csgalnact1 MGI:2442354

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

chondroitin sulfate N-acetylgalactosaminyltransferase 1

Synonyms:

4732435N03Rik, CSGalNAcT-1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

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 Csgalnact1 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.

Human diseases associated with Csgalnact1 (2 diseases)
Human diseases predicted to be associated with Csgalnact1 (1541 diseases)

The table below shows human diseases associated to Csgalnact1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age		Clinodactyly of the 2nd finger, Genu valgum, Prominent nasal tip, Pes planus, Finger joint hyperm...	OMIM:618870
Desbuquois Syndrome		Small hand, Elbow dislocation, Radioulnar synostosis, Short neck, Patellar dislocation, Sparse ha...	ORPHA:1425

The table below shows human diseases predicted to be associated to Csgalnact1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Major Depressive Disorder	Depression	OMIM:608516
Major Affective Disorder 1	Depression, Mania	OMIM:125480
Upington Disease	Arthralgia of the hip, Broad femoral neck, Multiple enchondromatosis, Flattened femoral head	OMIM:191520
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Disproportionate short-limb short stature, Epiphyseal stippling, Short humerus, Short...	OMIM:600121
Femur-Fibula-Ulna Complex	Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer...	ORPHA:2019
Rhizomelic Dysplasia, Ain-Naz Type	Severe short stature, Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of th...	OMIM:619598
Acromesomelic Dysplasia 2A	Acromesomelia, Disproportionate short-limb short stature, Short tibia, Aplasia/Hypoplasia involvi...	OMIM:200700
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh...	OMIM:601438
Metachondromatosis	Multiple enchondromatosis, Abnormal epiphysis morphology, Abnormal metaphysis morphology	ORPHA:2499
Acromesomelic Dysplasia 2C	Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia...	OMIM:201250
Syndactyly Type 4	Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot...	ORPHA:93405
Obsessive-Compulsive Disorder	Compulsive behaviors, Skin-picking, Depression, Collectionism	OMIM:164230
Genochondromatosis Type 1	Abnormality of the knee, Multiple enchondromatosis	ORPHA:85197
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u...	OMIM:118651
Acheiropodia	Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia...	ORPHA:931
Legg-Calvé-Perthes Disease	Short stature, Cartilage destruction	ORPHA:2380
Osebold-Remondini Syndrome	Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos...	OMIM:112910
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Acheiropody	Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C...	OMIM:200500
Acromesomelic Dysplasia, Grebe Type	Synostosis of carpal bones, Short tibia, Short toe, Aplasia of the middle phalanges of the toes, ...	ORPHA:2098
Lethal Faciocardiomelic Dysplasia	Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Intr...	ORPHA:1972
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Oculomaxillofacial Dysostosis	Wide nasal bridge, Abnormality of the dentition, Tessier cleft, Abnormality of the nose, Underdev...	ORPHA:1794
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Joint contracture of the hand, Pes planus, Flattened epiphysis, Dislocated radial head, High pala...	OMIM:612350
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ...	ORPHA:2491
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Abnormality of th...	OMIM:246570
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal irregularity, Metaphyseal cupping, Growth delay, Pes cavus, Short humerus, Talipes eq...	OMIM:616716
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Pycnodysostosis	Small hand, Carious teeth, Acromelia, Delayed cranial suture closure, Hypoplastic iliac wing, Mic...	ORPHA:763
Rhizomelic Dysplasia, Patterson-Lowry Type	Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Short humerus, Brachydactyl...	ORPHA:2831
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Enlarged metaphyses, Severe short stature, Lower-limb metaphyseal irregularity, Postnatal growth ...	OMIM:618728
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Choanal atresia, Depressed nasal ridge, Broad proximal phalanges of the hand...	OMIM:607597
Enchondromatosis, Multiple, Ollier Type	Multiple enchondromatosis, Abnormal long bone morphology	OMIM:166000
Microphthalmia With Limb Anomalies	Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Postnatal growth retardation, Anopht...	OMIM:206920
Alpha-Mannosidosis	Synostosis of joints, Craniofacial hyperostosis, Open bite, Bowing of the long bones, Short neck,...	ORPHA:61
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ...	ORPHA:1986
Angioosteohypotrophic Syndrome	Upper limb undergrowth, Abnormal foot morphology, Aplasia/hypoplasia involving bones of the upper...	ORPHA:75508
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Decreased fibular diameter, Micrognathia, Decreased skull ossification, Short neck, Multiple pren...	OMIM:616897
Camptodactyly Syndrome, Guadalajara Type 1	Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Microcornea, Downturned corners...	ORPHA:1327
Mietens-Weber Syndrome	Elbow flexion contracture, Severe postnatal growth retardation, Pes planus, Dislocated radial hea...	OMIM:249600
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pear-shap...	OMIM:190350
Oculodentodigital Dysplasia, Autosomal Recessive	Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout...	OMIM:257850
Treacher-Collins Syndrome	Open bite, Abnormal hair morphology, Micrognathia, Narrow mouth, Absent eyelashes, Microphthalmia...	ORPHA:861
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th...	OMIM:612447
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal femur morphology, Aplasia/hypoplasi...	ORPHA:2141
Larsen-Like Syndrome	Dental malocclusion, Joint dislocation, Delayed skeletal maturation, Recurrent otitis media, Radi...	OMIM:608545
Frontofacionasal Dysplasia	Tessier cleft, Cataract, Microcornea, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, De...	ORPHA:1791
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Megalocornea, Broad foot, Talipes, Short neck, Pes planus, Everted...	ORPHA:915
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, Microphthalmia, High p...	ORPHA:163649
Blepharophimosis-Impaired Intellectual Development Syndrome	Sparse eyelashes, Talipes equinovarus, Pes planus, Wide nose, Sparse eyebrow, Plagiocephaly, Dela...	OMIM:619293
Mosaic Trisomy 9	Limitation of joint mobility, Small nail, Elbow dislocation, Micrognathia, Large fontanelles, Tal...	ORPHA:99776
Muenke Syndrome	Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of...	OMIM:602849
Intellectual Disability, Wolff Type	Wide nasal bridge, Short distal phalanx of finger, Abnormality of the nail, Broad thumb, Microret...	ORPHA:3080
Rubinstein-Taybi Syndrome 2	Carious teeth, Broad thumb, Short 5th toe, Micrognathia, High palate, Syndactyly, Prominent finge...	OMIM:613684
Acrofacial Dysostosis, Catania Type	Small hand, Carious teeth, Finger syndactyly, Short nose, Delayed skeletal maturation, Brachydact...	ORPHA:1786
Hallermann-Streiff Syndrome	Natal tooth, Micrognathia, Narrow mouth, Sparse eyelashes, Everted lower lip vermilion, Microphth...	OMIM:234100
Cerebrooculonasal Syndrome	Tessier cleft, Sparse eyebrow, Long philtrum, Widely spaced teeth, Anophthalmia, Microdontia, Sol...	ORPHA:66625
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Postnatal growth retardation, Micrognathia, Narrow mouth, Talipes equino...	ORPHA:251028
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Abnormal sacrum morpholo...	ORPHA:1988
Seckel Syndrome 1	Ivory epiphyses, Postnatal growth retardation, Micrognathia, Talipes, Pes planus, Dislocated radi...	OMIM:210600
Spondyloepimetaphyseal Dysplasia, Missouri Type	Disproportionate short stature, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing...	ORPHA:93356
Autosomal Dominant Omodysplasia	Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Short humerus, Patellar disloc...	ORPHA:93328
Brachydactyly, Type A1, C	Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib...	OMIM:615072
Atelosteogenesis Type Ii	Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Microg...	ORPHA:56304
Mulibrey Nanism	Wide nasal bridge, Depressed nasal bridge, Microglossia, Dental malocclusion, Dental crowding, Gr...	OMIM:253250
Fibular Hemimelia	Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d...	ORPHA:93323
Feingold Syndrome 2	Short thumb, 3-4 toe syndactyly, Postnatal growth retardation, Short middle phalanx of the 2nd fi...	OMIM:614326
Spondyloepiphyseal Dysplasia Congenita	Dysplasia of the femoral head, Micrognathia, Genu valgum, Limited elbow movement, Short neck, Dis...	ORPHA:94068
Acrofacial Dysostosis, Weyers Type	Tessier cleft, Abnormality of the dentition, Conical tooth, Small hand, Toenail dysplasia, Small ...	ORPHA:952
Orofaciodigital Syndrome Viii	Short stature, Syndactyly, Short tibia, Polydactyly	OMIM:300484
Anophthalmia Plus Syndrome	Tessier cleft, Choanal atresia, Deviation of finger, Anophthalmia, Bilateral cleft palate, Verteb...	ORPHA:1104
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Neonatal death, Talipes, Talipes...	OMIM:108720
Short Stature, Brussels Type	Delayed epiphyseal ossification, Microretrognathia, Calcification of cartilage, Short stature, Gr...	ORPHA:2867
Hypertelorism, Microtia, Facial Clefting Syndrome	Short 5th finger, Tessier cleft, Abnormal vertebral morphology, Broad nasal tip, Abnormality of t...	OMIM:239800
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Short nose, Oligodontia, Thin upper l...	OMIM:616331
Mesomelic Dysplasia, Savarirayan Type	High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa...	ORPHA:85170
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi...	ORPHA:2878
Momo Syndrome	Wide nasal base, Thick upper lip vermilion, Short neck, Large hands, Abnormal bone ossification, ...	ORPHA:2563
Acrodysostosis 1 With Or Without Hormone Resistance	Long hallux, Narrow vertebral interpedicular distance, Calvarial hyperostosis, Dislocated radial ...	OMIM:101800
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Microgna...	OMIM:602471
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia...	ORPHA:988
Frank-Ter Haar Syndrome	Megalocornea, Delayed cranial suture closure, Micrognathia, Anterior concavity of thoracic verteb...	OMIM:249420
Three M Syndrome 2	Clinodactyly, Prominent nasal tip, Short neck, High palate, Short 5th finger, Delayed skeletal ma...	OMIM:612921
Acrofacial Dysostosis Syndrome Of Rodriguez	Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ...	OMIM:201170
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia...	OMIM:256050
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Small nail, Hypoplastic iliac wing, Alopecia totalis, Micrognathia, Absent ...	OMIM:263650
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ...	ORPHA:79106
Laurin-Sandrow Syndrome	Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,...	OMIM:135750
Zimmermann-Laband Syndrome	Facial hypertrichosis, Micrognathia, Short neck, Pes planus, High palate, Gingival fibromatosis, ...	ORPHA:3473
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Multiple Synostoses Syndrome 1	Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l...	OMIM:186500
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Clinodactyly, Small nail, Frontal upsweep of hair, Pes planus, Everted lower lip vermilion, High ...	OMIM:620494
Craniosynostosis 3	Dental malocclusion, Bicoronal synostosis, Low anterior hairline, Hallux valgus, Sagittal cranios...	OMIM:615314
Chondrodysplasia With Joint Dislocations, Gpapp Type	Genu valgum, Micrognathia, Narrow mouth, Intervertebral space narrowing, Radial head subluxation,...	OMIM:614078
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, G...	ORPHA:800
Frontonasal Dysplasia 1	Wide nasal bridge, Cataract, Hypoplasia of the maxilla, Broad nasal tip, Bifid nasal tip, Clinoda...	OMIM:136760
Mcdonough Syndrome	Dental malocclusion, Underdeveloped nasal alae, Open bite, Prominent nose, Micrognathia, Abnormal...	ORPHA:2471
Smith-Magenis Syndrome	Toe syndactyly, Micrognathia, Open mouth, Delayed eruption of primary teeth, Pes planus, Chronic ...	ORPHA:819
Endove Syndrome, Limb-Only Type	Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o...	OMIM:619217
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Sparse eyebrow, Dental malocclusion, Tiger tail banding, Nail dystrophy, Joi...	OMIM:619692
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited e...	OMIM:305620
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Cornelia De Lange Syndrome 5	Small hand, Toe syndactyly, Postnatal growth retardation, Micrognathia, Short neck, High palate, ...	OMIM:300882
Intellectual Disability And Myopathy Syndrome	Congenital hip dislocation, Atopic dermatitis, Broad nasal tip, Dental malocclusion, Scoliosis, L...	OMIM:619719
Kyphomelic Dysplasia	Disproportionate short stature, Radial bowing, Flared metaphysis, Micromelia, Dumbbell-shaped hum...	OMIM:211350
Spondylometaphyseal Dysplasia, Type A4	Severe short stature, Disproportionate short-limb short stature, Irregular patellae, Hypoplasia o...	OMIM:609052
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul...	ORPHA:1570
X-Linked Intellectual Disability, Siderius Type	Broad nasal tip, Cleft upper lip, Preaxial hand polydactyly, Low posterior hairline, Orofacial cl...	ORPHA:85287
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob...	ORPHA:93284
Frontonasal Dysplasia 2	Alopecia totalis, Tessier number 13 facial cleft, Aplasia of the nasal bone, Sparse eyelashes, Mi...	OMIM:613451
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Toenail dysplasia, Everted lower lip vermilion, High palate, Short nose, Anterior open-bite maloc...	OMIM:617877
Orofaciodigital Syndrome Type 10	Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact...	ORPHA:2756
Aarskog-Scott Syndrome	Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Broad foot, Short...	OMIM:305400
Microphthalmia, Syndromic 12	Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation, Micrognathia, Anophthal...	OMIM:615524
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Cleft upper lip, Foot oligodactyly, Amelia, Bilateral cleft palate, Bilateral clef...	OMIM:601357
Disorganization, Mouse, Homolog Of	Limb duplication, Cleft upper lip, Sacral meningocele, Hand polydactyly, Hip dislocation, Cleft p...	OMIM:223200
Pierpont Syndrome	Short neck, Pes planus, Everted lower lip vermilion, Microphthalmia, Microcornea, Prominent finge...	ORPHA:487825
Cornelia De Lange Syndrome 2	Small hand, Clinodactyly, Postnatal growth retardation, Micrognathia, Limited elbow movement, Sho...	OMIM:300590
Pierpont Syndrome	Broad foot, Decreased body weight, Short neck, Everted lower lip vermilion, Prominent subcalcanea...	OMIM:602342
Catel-Manzke Syndrome	Highly arched eyebrow, Abnormal epiphysis morphology, Failure to thrive, Oral synechia, Camptodac...	ORPHA:1388
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Genu valgum, ...	ORPHA:166016
Apert Syndrome	Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b...	OMIM:101200
Omodysplasia 2	Broad femoral neck, Short 1st metacarpal, Limited elbow flexion, Rhizomelic arm shortening, Micro...	OMIM:164745
Van Maldergem Syndrome 1	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus...	OMIM:601390
Keratoconus Posticus Circumscriptus	Keratoconus, Webbed neck, Cleft upper lip, Limited elbow extension and supination, Short neck, Br...	OMIM:244600
Frontonasal Dysplasia 3	Wide nasal bridge, Tessier cleft, Underdeveloped nasal alae, Sparse eyelashes, Brachycephaly, Abs...	OMIM:613456
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Depressed nasal bridge, Osteopenia, Toe syndactyly, Elbow flexion contracture, Anteverted nares, ...	OMIM:616809
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Dental m...	ORPHA:83451
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Recurrent otitis media, Hip contra...	OMIM:156550
Thalidomide Embryopathy	Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi...	ORPHA:3312
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Dental malocclusion, Anteverted nares, Long fingers, High palate, Mandibular prognathia, Mild sho...	OMIM:618292
Trisomy 13	High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Catara...	ORPHA:3378
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Tarsal synost...	OMIM:147891
Van Maldergem Syndrome 2	Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Talipes equinovarus...	OMIM:615546
Potocki-Lupski Syndrome	Mandibular prognathia, Dental malocclusion, Dental crowding, Failure to thrive, Trigonocephaly, M...	OMIM:610883
Intellectual Disability, Buenos-Aires Type	Wide nasal bridge, Abnormal calvaria morphology, Abnormal pelvic girdle bone morphology, Cuboid-s...	ORPHA:3079
Hamamy Syndrome	Micrognathia, Sparse eyelashes, Low posterior hairline, Everted lower lip vermilion, High palate,...	OMIM:611174
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Joint hypermobility, Aplasia/Hypoplasia affecting the eye, ...	ORPHA:1695
Kabuki Syndrome 2	Natal tooth, Recurrent otitis media, Postnatal growth retardation, Micrognathia, Decreased body w...	OMIM:300867
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, S...	ORPHA:1106
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Micrognathia, Genu valgum, Hip contracture, Pes planus, Flattened epiphysis, Advan...	OMIM:618363
Bohring-Opitz Syndrome	Supernumerary nipple, Overlapping toe, Micrognathia, Narrow mouth, Bilateral cleft palate, Disloc...	OMIM:605039
Acrodysostosis	Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol...	ORPHA:950
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Large fontanelles, Ara...	OMIM:300373
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Abnorma...	ORPHA:485
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint...	ORPHA:1427
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Pat...	OMIM:155050
Achondroplasia	Radial bowing, Recurrent otitis media, Narrow vertebral interpedicular distance, Genu varum, Femo...	OMIM:100800
Langer Mesomelic Dysplasia	Severe short stature, Ulnar deviation of finger, Abnormal epiphysis morphology, Disproportionate ...	ORPHA:2632
Arthrogryposis, Distal, Type 1C	Pursed lips, Narrow mouth, Hip contracture, Decreased body weight, Talipes equinovarus, Short nec...	OMIM:619110
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Delayed cranial suture closure, Large fontanelles, Abnormal metacarpal morphology, Abnormal finge...	ORPHA:2511
Short Syndrome	Clinodactyly, Megalocornea, Micrognathia, Cataract, Downturned corners of mouth, Delayed skeletal...	OMIM:269880
Oculodentodigital Dysplasia	Carious teeth, Dry hair, Clinodactyly, Joint contracture of the 5th finger, Microphthalmia, High ...	OMIM:164200
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Broad femoral neck...	OMIM:156500
Hajdu-Cheney Syndrome	Micrognathia, Narrow mouth, Genu valgum, Fibular bowing, Absent frontal sinuses, Crowded carpal b...	OMIM:102500
Chromosome 17P13.3, Telomeric, Duplication Syndrome	3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac...	OMIM:612576
Fanconi Anemia, Complementation Group S	Dental malocclusion, Clinodactyly, Underdeveloped nasal alae, Failure to thrive, Thick upper lip ...	OMIM:617883
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
2Q32Q33 Microdeletion Syndrome	Broad thumb, Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, High palate, Sparse...	ORPHA:251019
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t...	OMIM:119100
Distal Deletion 10P	Wide nasal bridge, Webbed neck, Abnormal fingernail morphology, Joint stiffness, Micrognathia, In...	ORPHA:1580
Craniofrontonasal Dysplasia	Finger syndactyly, Low posterior hairline, High palate, Depressed nasal ridge, Ridged fingernail,...	ORPHA:1520
Rhizomelic Chondrodysplasia Punctata, Type 2	Abnormal pelvic girdle bone morphology, Disproportionate short stature, Rhizomelia, Stippled calc...	OMIM:222765
Cerebrooculonasal Syndrome	Postnatal growth retardation, Anophthalmia, Sparse eyelashes, High palate, Iris coloboma, U-Shape...	OMIM:605627
Cardiofaciocutaneous Syndrome 1	Open bite, Micrognathia, Open mouth, Absent eyelashes, Low posterior hairline, Short neck, Absent...	OMIM:115150
Oculodentodigital Dysplasia	Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Curly...	ORPHA:2710
Brachydactyly Type A1	Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal...	ORPHA:93388
Weismann-Netter Syndrome	Severe short stature, Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip b...	ORPHA:3344
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Micrognathia, Genu valgum, Large fontanelles, Dec...	ORPHA:1452
ERI1-related disease	Velopharyngeal insufficiency, Micrognathia, Decreased body weight, Pes planus, Patellar dislocati...	OMIM:608739
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Dental malocclusion, Contractures of the large joints, Failure to thrive, Trigonoceph...	ORPHA:329178
Acrootoocular Syndrome	Wide nasal base, Micrognathia, Anodontia, Short foot, Short metacarpal, High, narrow palate, Shor...	ORPHA:2980
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly	OMIM:228250
Rhizomelic Chondrodysplasia Punctata, Type 1	Severe short stature, Depressed nasal bridge, Rhizomelia, Alopecia, Flared metaphysis, Epiphyseal...	OMIM:215100
Chromosome 3Pter-P25 Deletion Syndrome	Postnatal growth retardation, Overlapping toe, Micrognathia, Anal atresia, High palate, Flat occi...	OMIM:613792
Atelosteogenesis Type I	Platyspondyly, Rhizomelia, Joint dislocation, Absent or minimally ossified vertebral bodies, Micr...	ORPHA:1190
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe...	ORPHA:93322
Harrod Syndrome	Cataract, Abnormal pelvic girdle bone morphology, Dental malocclusion, Failure to thrive, Abnorma...	ORPHA:2115
Nestor-Guillermo Progeria Syndrome	Micrognathia, Limited elbow movement, Sparse eyelashes, Alopecia, Sparse eyebrow, Thin vermilion ...	OMIM:614008
Metatropic Dysplasia	Severe short stature, Cataract, Depressed nasal bridge, Scoliosis, Hypoplastic cervical vertebrae...	ORPHA:2635
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Prominent nose, Kyphoscoliosis, Hallux valgus, Short stature, Synophrys	OMIM:615541
Robinow Syndrome, Autosomal Dominant 3	Broad thumb, Clinodactyly, Micrognathia, Short neck, Short nose, Syndactyly, Cleft lip, Downturne...	OMIM:616894
Baraitser-Winter Syndrome 1	Wide nasal bridge, Iris coloboma, Highly arched eyebrow, Retrognathia, Long philtrum, Cleft upper...	OMIM:243310
Rapp-Hodgkin Syndrome	Carious teeth, Velopharyngeal insufficiency, Small nail, Supernumerary nipple, Recurrent otitis m...	OMIM:129400
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular...	OMIM:614669
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Dentinogenesis imperfecta, Depressed nasal bridge, Hypermobility of int...	OMIM:613849
Intermediate Osteopetrosis	Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Sand...	ORPHA:210110
Rhizomelic Syndrome, Urbach Type	Limitation of joint mobility, Micrognathia, Short neck, Abnormality of the knee, Abnormality of t...	ORPHA:3098
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Depressed nasal bridge, Micromelia, Lethal short-limbed short st...	ORPHA:1860
Hall-Riggs Syndrome	Downturned corners of mouth, Delayed skeletal maturation, Brachydactyly, Slow-growing hair, Thick...	ORPHA:2107
Zechi-Ceide Syndrome	Wide nasal bridge, Short distal phalanx of finger, Sandal gap, Cleft upper lip, Underdeveloped na...	OMIM:612916
Oculocerebrocutaneous Syndrome	Tessier cleft, Short distal phalanx of finger, Congenital hip dislocation, Iris coloboma, Alopeci...	ORPHA:1647
Craniofrontonasal Syndrome	Toe syndactyly, Low posterior hairline, Short neck, Curly hair, Split nail, Hemihypotrophy of low...	OMIM:304110
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm...	ORPHA:628
Chromosome 6Pter-P24 Deletion Syndrome	Narrow mouth, Axenfeld anomaly, Frontal upsweep of hair, Posterior embryotoxon, Short neck, Broad...	OMIM:612582
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno...	ORPHA:3329
Chromosome 1Q41-Q42 Deletion Syndrome	Small nail, Supernumerary nipple, Talipes equinovarus, Microphthalmia, High palate, Sparse eyebro...	OMIM:612530
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o...	OMIM:255800
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Ulnar deviation of finger, Disproportionate short stature, Synostosis of carpal bones, Micromelia...	ORPHA:2634
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,...	ORPHA:2639
Au-Kline Syndrome	Supernumerary nipple, Overlapping toe, Open mouth, Thoracolumbar scoliosis, High palate, Short no...	OMIM:616580
Koolen-De Vries Syndrome	Open mouth, Pear-shaped nose, Everted lower lip vermilion, High palate, Hip dislocation, Slender ...	OMIM:610443
Orofaciodigital Syndrome Iv	Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han...	OMIM:258860
Bartsocas-Papas Syndrome	Synostosis of joints, Toe syndactyly, Absent thumb, Finger syndactyly, Popliteal pterygium, Under...	ORPHA:1234
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi...	OMIM:259600
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Anterior open-bite malocclusion, Increased overbite, Cleft palate	OMIM:119540
Opitz-Kaveggia Syndrome	Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Frontal upsweep of hair, ...	OMIM:305450
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ectopia pupillae, Recurrent otitis media, Postnatal growth retardation, Microphthalmia, Hypoplast...	OMIM:608940
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Kyphosis, Patchy alopecia, Tongue atrophy, Polios...	OMIM:141300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Small nail, Short nose, Broad nasal tip, Plagiocephaly, Downturned corners of mouth, Short toe, T...	OMIM:239300
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Iris coloboma, Broad thumb, Lip pit, Camptodactyly of finger, Supernumerary nipple...	ORPHA:1236
Osteogenesis Imperfecta, Type X	Genu valgum, Micrognathia, Fibular bowing, Bowing of the long bones, Osteopenia, Tibial bowing, G...	OMIM:613848
Orofaciodigital Syndrome Xvii	High, narrow palate, Clinodactyly, Retrognathia, Prominent nose, Short middle phalanx of the 2nd ...	OMIM:617926
Meckel Syndrome, Type 8	Depressed nasal ridge, Cleft upper lip, Anophthalmia, Polydactyly, Talipes equinovarus, Short nec...	OMIM:613885
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Supernumerary nipple, Recurrent otitis media, Postnatal growth retardation, Overlapping toe, Micr...	OMIM:213980
Shprintzen-Goldberg Craniosynostosis Syndrome	Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly, Talipes equinovarus, Pe...	OMIM:182212
Oculocerebrocutaneous Syndrome	Congenital hip dislocation, Alopecia, Cleft ala nasi, Anophthalmia, Microphthalmia, Cleft palate	OMIM:164180
Mesomelic Dysplasia, Kantaputra Type	Ulnar deviation of finger, Abnormality of the ankle, Synostosis of carpal bones, Camptodactyly of...	ORPHA:1836
Facial Clefting, Oblique, 1	Cleft upper lip, Talipes calcaneovalgus, Tessier number 4 facial cleft, Microphthalmia, Cleft palate	OMIM:600251
Cri-Du-Chat Syndrome	Wide nasal bridge, Bifid uvula, Cataract, Microretrognathia, Small for gestational age, Downturne...	OMIM:123450
Progeria-Short Stature-Pigmented Nevi Syndrome	Micrognathia, Low posterior hairline, Premature ovarian insufficiency, Cataract, Osteopenia, Alop...	ORPHA:2959
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Disproportionate sh...	OMIM:222600
Roberts Syndrome	Synostosis of carpal bones, Finger syndactyly, Postnatal growth retardation, Micrognathia, Patell...	ORPHA:3103
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Broad nasal tip, Bulbous nose, Anteverted nares, Prominent nasal bridge, Long eyelashes, Anophtha...	ORPHA:411986
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short 4th toe, Short humerus, Brachydactyly, Short lower limbs, Cone-shaped...	ORPHA:420794
Rubinstein-Taybi Syndrome 1	Facial hypertrichosis, Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Postn...	OMIM:180849
Acromesomelic Dysplasia 2B	Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma...	OMIM:228900
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar...	OMIM:268305
Momo Syndrome	Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip...	OMIM:157980
Acromesomelic Dysplasia, Maroteaux Type	Depressed nasal bridge, Disproportionate short stature, Kyphosis, Abnormal form of the vertebral ...	ORPHA:40
Pseudodiastrophic Dysplasia	Platyspondyly, Severe short stature, Rhizomelia, Hypoplasia of the odontoid process, Webbed neck,...	OMIM:264180
Familial Median Cleft Of The Upper And Lower Lips	Diastema, Cleft upper lip, Abnormal mandible morphology, Irregular dentition, Cleft lower lip, Me...	ORPHA:401942
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Abnormality of the dentition, Short distal phalanx of finger, Dental malocclusion, Hypoplastic il...	ORPHA:1858
Robinow Syndrome	Flared nostrils, Tooth malposition, Small nail, Ankyloglossia, Marked delay in eruption of perman...	ORPHA:97360
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Atelosteogenesis Type Iii	Hand clenching, Absent humerus, Short tibia, Elbow dislocation, Knee dislocation, Short tubular b...	ORPHA:56305
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Depressed nasal bridge,...	ORPHA:2097
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ...	ORPHA:440354
Lessel-Kreienkamp Syndrome	Wide nasal bridge, Plagiocephaly, Dental malocclusion, Scaphocephaly, Open mouth, Thin upper lip ...	OMIM:619149
Myopathy, Myofibrillar, 8	Dental malocclusion, Micrognathia, Pes cavus, Joint contracture of the 5th finger, Joint hypermob...	OMIM:617258
Multiple Pterygium Syndrome, Escobar Variant	Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Narrow mouth, Patellar aplasia, Dysp...	OMIM:265000
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Anteverted nares, Gingival o...	ORPHA:1832
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop...	OMIM:252100
Catel-Manzke Syndrome	Narrow naris, Ulnar deviation of the 2nd finger, Postnatal growth retardation, Micrognathia, Narr...	OMIM:616145
Intellectual Developmental Disorder, Autosomal Dominant 26	Wide nasal bridge, Depressed nasal bridge, Highly arched eyebrow, Arthrogryposis multiplex congen...	OMIM:615834
Dysostosis, Stanescu Type	Carious teeth, Bowing of the long bones, Short neck, Increased bone mineral density, Hypoplasia o...	ORPHA:1798
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Broad thumb, Thoracic hemivertebrae, Genu valgum, Arachnodactyly, Pes planus, Sparse hair, Plagio...	OMIM:619721
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Frontal balding, Patellar subluxation, Everted lower lip vermilion, Thoracolumbar scoliosis, High...	ORPHA:3041
Cornelia De Lange Syndrome 1	Micrognathia, Low posterior hairline, Short neck, Dislocated radial head, High palate, High, narr...	OMIM:122470
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Wide nasal bridge, Depressed nasal ridge, Plagiocephaly, Underdeveloped nasal alae, Intestinal ma...	ORPHA:77300
Ollier Disease	Multiple enchondromatosis, Abnormal metaphysis morphology, Micromelia, Abnormal cartilage morphology	ORPHA:296
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Chordee, Short neck, Bro...	OMIM:166250
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Overlapping toe, Absent toenail, Absent fifth metatarsal, Broad fo...	OMIM:620662
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Choanal atresia, Anosmia, Osteopenia, Clinodactyly, Cleft upper lip, Ectrodactyly, Tooth agenesis...	OMIM:147950
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh...	OMIM:251450
Stickler Syndrome	Open bite, Slender build, Micrognathia, Genu valgum, Arachnodactyly, Short hard palate, Cachexia,...	ORPHA:828
Mucolipidosis Type Iii	Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnormal hip bone morphology, J...	ORPHA:577
Mesomelia-Synostoses Syndrome	Synostosis of joints, Synostosis of carpal bones, Aplasia/Hypoplasia of the uvula, Abnormal tibia...	ORPHA:2496
Multiple Pterygium Syndrome, X-Linked	Depressed nasal ridge, Joint dislocation, Cleft upper lip, Short finger, Intrauterine growth reta...	OMIM:312150
3Mc Syndrome 2	Wide nasal bridge, Highly arched eyebrow, Abnormal vertebral morphology, Caudal appendage, Downtu...	OMIM:265050
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Cataract, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Sparse ey...	ORPHA:306542
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Carious teeth, Toe syndactyly, Finger syndactyly, Micrognathia, Bilateral cleft palate, Anodontia...	ORPHA:3253
Cofs Syndrome	Wide nasal bridge, Cataract, Camptodactyly of finger, Hypogonadism, Joint stiffness, Micrognathia...	ORPHA:1466
Acrocallosal Syndrome	Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Finger syndactyly, Postn...	OMIM:200990
Osteogenesis Imperfecta	Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Micrognathia, Genu valgum,...	ORPHA:666
Fryns Microphthalmia Syndrome	Tessier cleft, Anophthalmia, Bilateral cleft palate, Bilateral cleft lip, Microphthalmia	OMIM:600776
Craniosynostosis And Dental Anomalies	Lambdoidal craniosynostosis, Clinodactyly, High palate, Chronic otitis media, Wide nose, Flat occ...	OMIM:614188
Supernumerary Nostril	Tessier cleft, Choanal atresia, Microcornea, Abnormality of ethmoid sinus, Supernumerary naris, D...	ORPHA:141096
Sponastrime Dysplasia	Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Aplasia of t...	ORPHA:93357
Thrombocytopenia-Absent Radius Syndrome	Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Micrognathia, Aplasia/hypoplasia...	ORPHA:3320
Coffin-Lowry Syndrome	Thick nasal septum, Open mouth, Decreased body weight, Pes planus, Everted lower lip vermilion, H...	OMIM:303600
Craniosynostosis, Herrmann-Opitz Type	Webbed neck, Finger syndactyly, Micromelia, Intrauterine growth retardation, Micrognathia, Malar ...	ORPHA:2145
3Mc Syndrome 3	Tessier cleft, Highly arched eyebrow, Clinodactyly, Cleft upper lip, Preaxial polydactyly, Sacral...	OMIM:248340
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed cranial suture closure, Micrognathia, Large fontanelles, Flat occiput, High, narrow palat...	ORPHA:2780
Cockayne Syndrome Type 2	Male hypogonadism, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of th...	ORPHA:90322
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion...	OMIM:602483
Intellectual Developmental Disorder, Autosomal Dominant 23	Micrognathia, Downturned corners of mouth, Bulbous nose, Low anterior hairline, Thin upper lip ve...	OMIM:615761
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ...	ORPHA:1275
Terminal Osseous Dysplasia	Toe clinodactyly, Iris coloboma, Clinodactyly, Short toe, Camptodactyly of finger, Mesomelic leg ...	OMIM:300244
Microtriplication 11Q24.1	Keratoconus, Small hand, Limitation of joint mobility, Genu valgum, Talipes equinovarus, Short ne...	ORPHA:289522
Turnpenny-Fry Syndrome	Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Decreased body weight, Prominent nasal t...	OMIM:618371
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Ulnar deviation of finger, Cataract, Depressed nasal bridge, Furrowed tongue, ...	ORPHA:1387
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Delayed epiphyseal ossification, Postnatal growth retardation, Large fontanelles, Short neck, Fla...	OMIM:613320
Odontochondrodysplasia	Platyspondyly, Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Square p...	ORPHA:166272
Burn-Mckeown Syndrome	Bifid uvula, Choanal atresia, Bilateral choanal atresia, Cleft upper lip, Bilateral choanal atres...	OMIM:608572
Premature Aging Syndrome, Penttinen Type	Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Flexion contracture of f...	OMIM:601812
Traboulsi Syndrome	Arachnodactyly, Pes planus, Microphthalmia, High palate, Wide nose, Cataract, Anterior synechiae ...	OMIM:601552
Nail-Patella Syndrome	Keratoconus, Patellar aplasia, Talipes equinovarus, Pes planus, Disproportionate prominence of th...	OMIM:161200
Acrofacial Dysostosis, Palagonia Type	Small hand, Finger syndactyly, Micrognathia, Sparse eyelashes, Short neck, Sparse hair, High, nar...	ORPHA:1787
Hartsfield Syndrome	Depressed nasal bridge, Aplasia/Hypoplasia of the radius, Intrauterine growth retardation, Split ...	ORPHA:2117
Pde4D Haploinsufficiency Syndrome	Postnatal growth retardation, Micrognathia, Broad foot, Prominent nasal tip, Pes planus, Broad ph...	ORPHA:439822
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Dental malocclusion, Underdeveloped nasal alae, Widely spaced teeth, Malar flattening, ...	OMIM:616108
Aminopterin Syndrome Sine Aminopterin	Highly arched eyebrow, Joint contracture of the hand, Clinodactyly, Short thumb, Intrauterine gro...	OMIM:600325
Acrofrontofacionasal Dysostosis	Short distal phalanx of finger, Broad thumb, Abnormal epiphysis morphology, Micromelia, Broad nas...	ORPHA:1784
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Dental malocclusion, Broad columella, Diastema, Underdeveloped nasal alae, Micrognathia, Malar fl...	ORPHA:436245
Achondroplasia	Flat acetabular roof, Disproportionate short stature, Cervical spinal canal stenosis, Obesity, Li...	ORPHA:15
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Retrognathia, Elbow dislocation, Camptodactyly of finger, Abnormal...	ORPHA:2631
Trisomy 1Q	Aplasia/Hypoplasia of the nails, Depressed nasal bridge, Toe syndactyly, Microretrognathia, Preax...	ORPHA:261344
Kapur-Toriello Syndrome	Cataract, Joint contracture of the hand, Scoliosis, Short thumb, Cleft upper lip, Camptodactyly o...	OMIM:244300
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Bifid uvula, Depressed nasal bridge, Highly arched eyebrow, Arthrogryposis multiplex congenita, L...	OMIM:618622
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ...	OMIM:144750
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Genu varum, Irregular vertebral e...	ORPHA:174
Martsolf Syndrome 1	Tooth malposition, Micrognathia, Abnormal toenail morphology, Low posterior hairline, Talipes equ...	OMIM:212720
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
3M Syndrome	Decreased fertility, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of ...	ORPHA:2616
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,...	ORPHA:1350
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Microglossia, Postaxial foot polydactyly, Toe syndactyly, Micromelia, Sho...	OMIM:241800
Mesomelic Limb Shortening And Bowing	Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,...	OMIM:249710
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Wide nasal bridge, Bifid uvula, Cleft upper lip, Bulbous nose, Anteverted nares, Decreased body w...	OMIM:300958
Pycnodysostosis	Carious teeth, Micrognathia, Delayed eruption of primary teeth, Absent frontal sinuses, Ridged na...	OMIM:265800
Autosomal Recessive Omodysplasia	Rhizomelia, Micromelia, Elbow dislocation, Abnormal femur morphology, Micrognathia, Abnormal morp...	ORPHA:93329
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Clinodactyly, Small nail, Micrognathia, Narrow mouth, Sparse eyelashes, Absent eyela...	OMIM:264090
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Arthrogryposis multiplex congenita, High palate, Mandibular prognathia, Dental malocclusion	OMIM:608931
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Genu ...	OMIM:184260
Fibrochondrogenesis 1	Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Megalocornea, ...	OMIM:228520
Osseous Heteroplasia, Progressive	Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue	OMIM:166350
Elsahy-Waters Syndrome	Megalocornea, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, High palate, W...	OMIM:211380
Microcephaly-Micromelia Syndrome	Absent thumb, Short tibia, Micromelia, Oligodactyly, Intrauterine growth retardation, Micrognathi...	OMIM:251230
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Velopharyngeal insufficiency, Clinodactyly of the 2nd finger, Micrognathia, Absent toenail, Pes p...	OMIM:620663
Acro-Renal-Ocular Syndrome	Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r...	ORPHA:959
Temple Syndrome	Small hand, Clinodactyly, Recurrent otitis media, Micrognathia, High palate, Short foot, Wide nos...	OMIM:616222
Larsen Syndrome	Hypoplastic cervical vertebrae, Elbow dislocation, Talipes equinovarus, Beaking of vertebral bodi...	OMIM:150250
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Natal tooth, Dental malocclusion, Short 1st metacarpal, Short fir...	OMIM:601957
Holoprosencephaly	Anophthalmia, Talipes, Short neck, Microphthalmia, Iris coloboma, Flat occiput, Choanal atresia, ...	ORPHA:2162
Spondylometaphyseal Dysplasia, Algerian Type	Severe short stature, Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femo...	OMIM:184253
Lethal Kniest-Like Dysplasia	Hypoplastic ilia, Flared metaphysis, Abnormal cartilage morphology, Broad long bones, Mesomelic/r...	ORPHA:2347
Shox-Related Short Stature	Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ...	ORPHA:314795
Chromosome 18Q Deletion Syndrome	Toe syndactyly, Overlapping toe, Talipes equinovarus, Short neck, Pes planus, U-Shaped upper lip ...	OMIM:601808
2Q24 Microdeletion Syndrome	Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Cataract, Abnormality...	ORPHA:1617
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Hip contra...	OMIM:210710
Microphthalmia, Syndromic 8	Mandibular prognathia, Microcornea, Cleft upper lip, Split foot, Orofacial cleft, Microphthalmia,...	OMIM:601349
Emanuel Syndrome	Tooth malposition, Recurrent otitis media, Micrognathia, Anal atresia, High palate, Broad jaw, Mu...	ORPHA:96170
7Q11.23 Microduplication Syndrome	Micrognathia, Short lingual frenulum, Short neck, Pes planus, High palate, Chronic otitis media, ...	ORPHA:96121
Congenital Disorder Of Glycosylation, Type Ig	Rhizomelia, Sandal gap, Short tibia, Short humerus, Short ribs, Talipes equinovarus, Hypoplasia o...	OMIM:607143
Focal Dermal Hypoplasia	Toe syndactyly, Midclavicular aplasia, Supernumerary nipple, Absent toenail, Anophthalmia, Microp...	OMIM:305600
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum...	OMIM:277170
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Hypoplasia of the odontoid process, Broad foot, Short neck, Flattened epiphysis, High palate, Bro...	OMIM:300232
Chromosome 16Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Highly arched eyebrow, Growth delay, Broad hallux, Fai...	OMIM:614541
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth...	ORPHA:166277
Otopalatodigital Syndrome Type 1	Synostosis of carpal bones, Limitation of joint mobility, Elbow dislocation, Anodontia, Bowing of...	ORPHA:90650
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup...	ORPHA:352665
Mmep Syndrome	Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Microphthalmia, Mandibular prognath...	ORPHA:3434
Fraser Syndrome 1	Small nail, Aplasia/Hypoplasia of the sternum, Cutaneous finger syndactyly, Extension of hair gro...	OMIM:219000
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, High anterior hairline, Carious teeth, Dental malocclusion, Velopha...	ORPHA:363444
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Cleft ala nasi, Convex nasal ridge, Non-midline cle...	ORPHA:2007
Wiedemann-Steiner Syndrome	Small hand, Recurrent otitis media, Long hallux, Contracture of the distal interphalangeal joint ...	OMIM:605130
Sclerosteosis 1	Wide nasal bridge, Tooth malposition, Abnormal pelvic girdle bone morphology, Depressed nasal bri...	OMIM:269500
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Small nail, Genu valgum, Beaking of vertebral bodies, Thoracolumb...	OMIM:618853
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea...	OMIM:164900
Kbg Syndrome	Short neck, Widely-spaced maxillary central incisors, Delayed skeletal maturation, Oligodontia, T...	ORPHA:2332
Cockayne Syndrome B	Carious teeth, Square pelvis bone, Limitation of joint mobility, Dry hair, Abnormal hair morpholo...	OMIM:133540
Short Stature-Wormian Bones-Dextrocardia Syndrome	Wide nasal bridge, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Depressed ...	ORPHA:2863
Mycophenolate Mofetil Embryopathy	Tessier cleft, Bifid thoracic vertebrae, Tracheomalacia, Micrognathia, Hypoplastic toenails, Orof...	ORPHA:268249
Cleidocranial Dysplasia 1	Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub...	OMIM:119600
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Microphthalmia, Flat acetabular roof, Anal atresia, Sparse eyebrow, Cle...	OMIM:616300
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Wide nasal bridge, Cataract, Conical tooth, Dental malocclusion, Clinodactyly, Sandal gap, Broad ...	OMIM:618727
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Chopra-Amiel-Gordon Syndrome	Flared nostrils, High anterior hairline, Cleft lip, Delayed skeletal maturation, Thick nasal alae...	OMIM:619504
Lowry-Maclean Syndrome	Megalocornea, Micrognathia, Delayed eruption of primary teeth, Midgut malrotation, Short nose, Hi...	ORPHA:2409
Orofaciodigital Syndrome Ix	Toe syndactyly, Short tibia, Hand polydactyly, Camptodactyly, Short stature	OMIM:258865
Mosaic Trisomy 14	Wide nasal bridge, Lower limb asymmetry, Failure to thrive, Camptodactyly of finger, Frontal boss...	ORPHA:1703
Hydrolethalus	Bifid uvula, Gingival cleft, Unilateral cleft lip, Micromelia, Retrognathia, Micrognathia, Anopht...	ORPHA:2189
Greig Cephalopolysyndactyly Syndrome	Keratoconus, Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Delayed cran...	OMIM:175700
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Recurrent otitis media, Slender build, Narrow mouth, Synovitis, Recurrent skin infec...	ORPHA:3455
Fetal Alcohol Syndrome	Anteverted nares, Micrognathia, Joint stiffness, Intrauterine growth retardation, Microdontia, Th...	ORPHA:1915
Noonan Syndrome 13	Clinodactyly, Recurrent otitis media, Overlapping toe, Micrognathia, Low posterior hairline, Gene...	OMIM:619087
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Small hand, Clinodactyly, Recurrent otitis media, Postnatal growth retardation, Micrognathia, Nar...	ORPHA:96184
Faciodigitogenital Syndrome, Autosomal Recessive	Dental malocclusion, Anteverted nares, Prominent nasal bridge, Vertebral fusion, Widow's peak, Do...	OMIM:227330
Omodysplasia 1	Rhizomelia, Disproportionate short-limb short stature, Short tibia, Limited knee flexion/extensio...	OMIM:258315
Wolf-Hirschhorn Syndrome	Abnormal vertebral morphology, Megalocornea, Micrognathia, Arachnodactyly, Talipes equinovarus, L...	ORPHA:280
Temple-Baraitser Syndrome	Broad thumb, Everted upper lip vermilion, Long hallux, Open mouth, Absent toenail, Everted lower ...	ORPHA:420561
Pelviscapular Dysplasia	Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac...	ORPHA:93333
Cerebellar-Facial-Dental Syndrome	Infancy onset short-trunk short stature, Micrognathia, Short neck, Sparse hair, Cataract, Sparse ...	ORPHA:444072
Satb2-Associated Syndrome Due To A Pathogenic Variant	Bifid uvula, Abnormality of the dentition, Broad thumb, Lower limb asymmetry, Osteopenia, Long ph...	ORPHA:576283
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Genu valgum, Prominent nasal tip, Pes planus, Finger joint hyperm...	OMIM:618870
Rhizomelic Limb Shortening With Dysmorphic Features	Short 5th finger, Wide nasal bridge, Rhizomelia, Plagiocephaly, Prominent fingertip pads, Long ph...	OMIM:618821
Fatco Syndrome	Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology...	ORPHA:2492
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho...	ORPHA:93307
Rhizomelic Chondrodysplasia Punctata	Abnormality of the dentition, Rhizomelia, Cataract, Abnormal epiphysis morphology, Limitation of ...	ORPHA:177
Coffin-Siris Syndrome 3	High palate, Short distal phalanx of the 5th finger, Wide nose, Delayed skeletal maturation, Long...	OMIM:614608
Waardenburg Syndrome Type 1	Wide nasal bridge, Cleft upper lip, Underdeveloped nasal alae, Abnormal hair morphology, Prematur...	ORPHA:894
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Micrognathia, Narrow mouth, Genu valgum, Low posterior hairline, Talipes equ...	OMIM:245600
3Mc Syndrome 1	Lambdoidal craniosynostosis, Caudal appendage, Supernumerary nipple, Postnatal growth retardation...	OMIM:257920
Acromelic Frontonasal Dysostosis	Short tibia, Talipes equinovarus, Bifid nose, Midline facial cleft, U-Shaped upper lip vermilion,...	OMIM:603671
Slc35A2-Cdg	Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Intr...	ORPHA:356961
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis	ORPHA:1074
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Fifth finger distal phalanx clinodactyly, Wide nasal bridge, Multiple suture craniosynostosis, Br...	ORPHA:3369
Bent Bone Dysplasia Syndrome 2	Hypoplastic acetabulae, Short 1st metacarpal, Short tibia, Hypoplastic iliac wing, Intrauterine g...	OMIM:620076
Duane-Radial Ray Syndrome	Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi...	OMIM:607323
Carpenter Syndrome 1	Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo...	OMIM:201000
Basal Cell Nevus Syndrome 1	Short distal phalanx of the thumb, Microphthalmia, Iris coloboma, Cataract, Plantar pits, Vertebr...	OMIM:109400
German Syndrome	Wide nasal bridge, Depressed nasal bridge, Limitation of joint mobility, Camptodactyly of finger,...	ORPHA:2077
Boomerang Dysplasia	Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology, Abnormal mor...	ORPHA:1263
Hajdu-Cheney Syndrome	Periodontitis, Open bite, Micrognathia, Narrow mouth, Decreased skull ossification, Absent fronta...	ORPHA:955
Noonan Syndrome 4	Depressed nasal bridge, Sparse eyebrow, High anterior hairline, Dental malocclusion, Webbed neck,...	OMIM:610733
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor...	ORPHA:166002
Craniometadiaphyseal Dysplasia	Carious teeth, Natal tooth, Absent paranasal sinuses, Broad long bones, Genu valgum, High palate,...	OMIM:269300
Aase-Smith Syndrome	Slender finger, Aplasia/Hypoplasia of the radius, Camptodactyly of finger, Abnormal hip bone morp...	ORPHA:916
Juberg-Hayward Syndrome	Highly arched eyebrow, Cleft upper lip, Anteriorly placed anus, Limited elbow extension, Abnormal...	OMIM:216100
Charlie M Syndrome	Wide nasal bridge, Finger syndactyly, Tooth agenesis, Abnormal fingernail morphology, Micrognathi...	ORPHA:1406
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm...	OMIM:227270
Takenouchi-Kosaki Syndrome	Flared nostrils, Clinodactyly, Overlapping toe, Sparse eyebrow, Downturned corners of mouth, Bulb...	OMIM:616737
Intellectual Developmental Disorder, Autosomal Recessive 13	Wide nasal bridge, Slender finger, Downturned corners of mouth, Cleft upper lip, Smooth philtrum,...	OMIM:613192
Three M Syndrome 1	Postnatal growth retardation, Short neck, Pes planus, Hip dislocation, Short 5th finger, Joint di...	OMIM:273750
Phenobarbital Embryopathy	Aplasia/Hypoplasia of the nails, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Malar flatt...	ORPHA:1919
Spondyloepimetaphyseal Dysplasia, Missouri Type	Metaphyseal cupping, Rhizomelia, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin...	OMIM:602111
Gomez-Lopez-Hernandez Syndrome	Alopecia, Skull asymmetry, Anteverted nares, Malar flattening, Turricephaly, Smooth philtrum, Wor...	OMIM:601853
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Depressed nasal bridge, Platyspondyly, Premature osteoarthritis, Anteverted...	OMIM:184840
Blepharonasofacial Malformation Syndrome	Wide nasal bridge, Finger syndactyly, Long philtrum, Tooth agenesis, Underdeveloped nasal alae, S...	ORPHA:1252
Anencephaly 2	Median cleft palate, Anophthalmia, Median cleft upper lip, Bifid nose, Cleft maxillary alveolar r...	OMIM:619452
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Depressed nasal bridge, Broad nasal tip, Abnormal sacral segmentation, Long philtrum, Bulbous nos...	ORPHA:480907
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Tooth agenesis, Abnormal shoulder morphology, Micrognathia, Abnormal palate morphology, Brachydac...	ORPHA:1277
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Bifid uvula, Broad distal phalanx of finger, Cataract, Dental crowding, Delayed eruption of teeth...	OMIM:300990
Stuve-Wiedemann Syndrome 1	Short tibia, Micrognathia, Metaphyseal rarefaction, Bowing of the long bones, Talipes, Hypoplasti...	OMIM:601559
Weyers Ulnar Ray/Oligodactyly Syndrome	Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Proximal radial head dislocation, So...	OMIM:602418
Phelan-Mcdermid Syndrome	Wide nasal bridge, Toenail dysplasia, Dental malocclusion, Long philtrum, Widely spaced teeth, Bu...	OMIM:606232
Laurin-Sandrow Syndrome	Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl...	ORPHA:2378
Coffin-Siris Syndrome 6	High, narrow palate, Depressed nasal bridge, Broad nasal tip, Plagiocephaly, Clinodactyly, Retrog...	OMIM:617808
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Retrognathia, Hypogonadism, Narrow mouth, Brachycephaly, Microphthalmia, S...	ORPHA:2528
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Broad thumb, Overlapping toe, Decreased body weight, Talipes equinovarus, Short neck, High palate...	OMIM:617452
C Syndrome	Toe syndactyly, Postaxial foot polydactyly, Clinodactyly, Micrognathia, Thick anterior alveolar r...	OMIM:211750
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Plagiocephaly, Clinodactyly, Long philtrum, Anteverted nares, Micrognathia, Lo...	OMIM:618577
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Micrognathia, Low posterior hairline, Talipes equinovarus, Radioulnar synostosi...	OMIM:194190
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Osteopenia, Plagiocephaly, Failure to thrive in infancy, Bulbous nose, Prominent nose, Anteverted...	OMIM:616801
Microphthalmia, Syndromic 2	Hand clenching, Anophthalmia, Laterally curved eyebrow, Contracture of the proximal interphalange...	OMIM:300166
6Q25 Microdeletion Syndrome	Wide nasal bridge, Plagiocephaly, Failure to thrive, Long philtrum, Camptodactyly of finger, Micr...	ORPHA:251056
Orofaciodigital Syndrome Type 1	Finger syndactyly, Open bite, Micrognathia, Brittle hair, Foot polydactyly, Tarsal synostosis, Hi...	ORPHA:2750
Dyssegmental Dysplasia, Silverman-Handmaker Type	Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Talipes equinovarus, ...	ORPHA:1865
Unilateral Ocular Duplication	Microcornea, Frontal bossing, Abnormal eyebrow morphology, Abnormal pupil morphology, Midline fac...	ORPHA:3374
Recombinant 8 Syndrome	Abnormality of the dentition, Depressed nasal bridge, Downturned corners of mouth, Cleft upper li...	ORPHA:96167
Codas Syndrome	Congenital hip dislocation, Absent epiphyses, Hypoplasia of the odontoid process, Genu valgum, Sh...	OMIM:600373
Oculofaciocardiodental Syndrome	Tooth malposition, Genu valgum, Radioulnar synostosis, Microphthalmia, Iris coloboma, Cataract, M...	ORPHA:2712
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Toe syndactyly, Broad thumb, Overlapping toe, Decreased body weight, Arachnodactyly, Talipes equi...	ORPHA:505237
49,Xxxxy Syndrome	Carious teeth, Elbow dislocation, Open bite, Talipes equinovarus, Radioulnar synostosis, Pes plan...	ORPHA:96264
8Q24.3 Microdeletion Syndrome	Infancy onset short-trunk short stature, Branchial cyst, Talipes, Short neck, Pes planus, Short h...	ORPHA:508488
Ruvalcaba Syndrome	Small hand, Dental crowding, Micromelia, Underdeveloped nasal alae, Kyphosis, Narrow nose, Limite...	OMIM:180870
Localized Scleroderma	Abnormality of the dentition, Abnormal facial skeleton morphology, Dental malocclusion, Abnormali...	ORPHA:90289
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Abnormality of the temporomandibular ...	ORPHA:477781
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Pes planus, Thoracolumbar scoli...	ORPHA:457395
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Hypoplastic cervical vertebrae, Retrognathia, Elbow dislocation, Knee dislocation, Small epiphyse...	OMIM:620269
Craniolenticulosutural Dysplasia	Carious teeth, Pes planus, Brittle hair, High palate, Sparse hair, Osteopenia, Thin upper lip ver...	OMIM:607812
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Bilateral talipes equ...	OMIM:269250
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Small hand, Clinodactyly, Recurrent otitis media, Postnatal growth retardation, Obesity, Microgna...	ORPHA:254531
Cenani-Lenz Syndrome	Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc...	ORPHA:3258
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Clinodactyly, Open mouth, Frontal upsweep of hair, Short neck, High palate, Short nose, Syndactyl...	ORPHA:369891
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Toe syndactyly, Long philtrum, Anteverted nares, Micrognathia, Short colu...	ORPHA:171839
Acrofrontofacionasal Dysostosis 1	Wide nasal bridge, Short distal phalanx of finger, Mandibular prognathia, Broad thumb, Small nail...	OMIM:201180
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Clark-Baraitser Syndrome	Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Clinodactyly, Sandal gap, Ant...	OMIM:617752
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Overtubulated long bones, Abnormal foot morphology, Short tubular...	ORPHA:85184
Gm1 Gangliosidosis	Aspiration pneumonia, Narrow mouth, Generalized hirsutism, Weight loss, Depressed nasal ridge, Br...	ORPHA:354
Sandestig-Stefanova Syndrome	Wide nasal bridge, Highly arched eyebrow, Clinodactyly, Retrognathia, Sparse medial eyebrow, Trig...	OMIM:618804
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Aplasia/Hypoplasia affecting the eye, Short neck, Diaphysea...	ORPHA:175
X-Linked Intellectual Disability, Abidi Type	Prominent nasal bridge, Short stature, Scoliosis, Non-midline cleft of the upper lip, Cleft palate	ORPHA:85273
Even-Plus Syndrome	Epiphyseal dysplasia, Cataract, Atopic dermatitis, Depressed nasal ridge, Bifid nasal tip, Highly...	OMIM:616854
Saethre-Chotzen Syndrome	Broad thumb, Finger syndactyly, Prominent crus of helix, Open bite, Delayed cranial suture closur...	ORPHA:794
Zaki Syndrome	Wide nasal bridge, Broad distal phalanx of finger, Toe syndactyly, Sparse eyebrow, Sparse lateral...	OMIM:619648
Multiple Pterygium-Malignant Hyperthermia Syndrome	Onychogryposis of fingernail, Finger syndactyly, Narrow mouth, Arachnodactyly, Talipes equinovaru...	ORPHA:2215
Postaxial Acrofacial Dysostosis	Congenital hip dislocation, Conical tooth, Choanal atresia, Pyloric stenosis, Short thumb, Cleft ...	OMIM:263750
Atelosteogenesis, Type Iii	Radial bowing, Elbow dislocation, Micrognathia, Talipes equinovarus, Short neck, Cervical segment...	OMIM:108721
Verheij Syndrome	Clinodactyly, Branchial cyst, Short neck, Hip dislocation, Short nose, Short 5th finger, Broad na...	OMIM:615583
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Small nail, De...	OMIM:268310
Cutis Laxa, Autosomal Recessive, Type Iiia	Narrow mouth, Large fontanelles, Talipes equinovarus, Sparse hair, Hip dislocation, Cataract, Del...	OMIM:219150
48,Xxxy Syndrome	Carious teeth, Elbow dislocation, Open bite, Talipes equinovarus, Radioulnar synostosis, Pes plan...	ORPHA:96263
Carpenter Syndrome 2	Carious teeth, Broad thumb, Narrow naris, Supernumerary nipple, Cutaneous finger syndactyly, Tali...	OMIM:614976
Cockayne Syndrome A	Carious teeth, Square pelvis bone, Limitation of joint mobility, Dry hair, Hypoplastic iliac wing...	OMIM:216400
Nager Syndrome	Sparse lower eyelashes, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasia o...	ORPHA:245
Potocki-Shaffer Syndrome	Broad nasal tip, Downturned corners of mouth, Underdeveloped nasal alae, Parietal foramina, Depre...	ORPHA:52022
Arthrogryposis And Ectodermal Dysplasia	Trichiasis, Nuclear cataract, Joint contracture of the hand, Cleft upper lip, Abnormal dental ena...	OMIM:601701
Chromosome 5P13 Duplication Syndrome	Wide nasal bridge, Sparse hair, Scoliosis, Downturned corners of mouth, Long foot, Bulbous nose, ...	OMIM:613174
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Small hand, Clinodactyly, Postnatal growth retardation, Intrauterine growth retardation, Microgna...	ORPHA:254525
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal dea...	OMIM:146510
Congenital Heart Defects And Ectodermal Dysplasia	2-3 toe cutaneous syndactyly, Depressed nasal bridge, High anterior hairline, Broad thumb, Thin s...	OMIM:617364
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Cervical C2/C3 vertebral fusion, Low posterior hairline, Short neck, Scoliosis, ...	OMIM:214300
Kury-Isidor Syndrome	Finger syndactyly, Recurrent otitis media, Talipes equinovarus, Short neck, High palate, Alopecia...	OMIM:619762
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Micrognathia, High palate, Short nose, Cataract, Plagiocephaly, Long eyelashes, Hammertoe, Intrau...	OMIM:619833
3P25.3 Microdeletion Syndrome	Broad thumb, Overlapping toe, Micrognathia, 2-3 finger syndactyly, Microphthalmia, High, narrow p...	ORPHA:435638
Antley-Bixler Syndrome	Choanal atresia, Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of finger, Delaye...	ORPHA:83
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu...	OMIM:271510
Oliver Syndrome	Postaxial foot polydactyly, Dental malocclusion, Prominent fingertip pads, Short toe, Camptodacty...	ORPHA:2920
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Abnormal pelvis bone ossification, Micrognathia, Anal atresia, Short foot, Wide nose, Cataract, D...	ORPHA:93271
Bartsocas-Papas Syndrome 2	Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Microphthalmia, Prominent occi...	OMIM:619339
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Cleft upper lip, Microphthalmia, Iris coloboma, Cleft palate	OMIM:120433
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Ulnar-Mammary Syndrome	Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ...	OMIM:181450
Acrocephalopolydactyly	Genu recurvatum, Depressed nasal ridge, Oxycephaly, Short neck, Limb undergrowth, Brachydactyly, ...	ORPHA:221054
Trisomy 9P	Dental crowding, Downturned corners of mouth, Kyphosis, Hypoplastic fingernail, Impacted tooth, F...	ORPHA:236
Marshall Syndrome	Thick upper lip vermilion, Micrognathia, Genu valgum, Sparse eyelashes, High palate, Sparse hair,...	ORPHA:560
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Congenital Disorder Of Glycosylation, Type Iia	Postnatal growth retardation, Open mouth, Protruding tongue, Short neck, Pes planus, Everted lowe...	OMIM:212066
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Abnormal joint morphology, Micrognathia, Peri...	ORPHA:2753
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Carious teeth, Depressed...	OMIM:617102
Distal Monosomy 7Q36	Abnormal calvaria morphology, Bulbous nose, Micrognathia, Symphalangism affecting the phalanges o...	ORPHA:1636
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru...	OMIM:119800
Dysostosis Multiplex, Ain-Naz Type	Severe short stature, Elongated femoral neck, Hypoplastic iliac wing, Wide humerus, Glenoid fossa...	OMIM:619345
Richieri-Costa/Guion-Almeida Syndrome	Iris coloboma, Cleft upper lip, Malar flattening, Abnormal digit morphology, Palmoplantar cutis l...	OMIM:268850
Osteogenesis Imperfecta, Type V	Platyspondyly, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Osteopenia, Ver...	OMIM:610967
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive

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