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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 (1295 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		Joint dislocation, Micromelia, Accelerated skeletal maturation, Finger joint hypermobility, Joint...	OMIM:618870
Desbuquois Syndrome		Genu recurvatum, Accelerated skeletal maturation, Short neck, Coxa vara, Clinodactyly of the 5th ...	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	Mania, Depression	OMIM:125480
Upington Disease	Flattened femoral head, Multiple enchondromatosis, Broad femoral neck, Arthralgia of the hip	OMIM:191520
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s...	OMIM:600121
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror...	ORPHA:2019
Metachondromatosis	Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal epiphysis morphology	ORPHA:2499
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Hypoplasia of the radius, Mesomelic short stature, Short tibia, Neonatal short-limb short stature...	OMIM:156230
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Severe short stature, Wid...	OMIM:619598
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Obsessive-Compulsive Disorder	Collectionism, Compulsive behaviors, Skin-picking, Depression	OMIM:164230
Genochondromatosis Type 1	Abnormality of the knee, Multiple enchondromatosis	ORPHA:85197
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Legg-Calvé-Perthes Disease	Cartilage destruction, Short stature	ORPHA:2380
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Oculomaxillofacial Dysostosis	Median cleft lip, Corneal opacity, Camptodactyly of finger, Short stature, Micrognathia, Abnormal...	ORPHA:1794
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P...	OMIM:618728
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, Irregular vertebral endplates, High palate, Short phalanx of finger, Bifid uvula, Dis...	OMIM:612350
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Short stature, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of ...	ORPHA:2491
Mesomelic Dysplasia, Savarirayan Type	Short stature, Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, ...	OMIM:605274
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Pycnodysostosis	Ridged nail, Obtuse angle of mandible, Persistent open anterior fontanelle, Micrognathia, Hypopla...	ORPHA:763
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Short stature, Coxa vara, Growth delay,...	OMIM:616716
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Deviation of finger, Deforme...	ORPHA:2831
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Frontal bossing, Choanal atresia, Broad proximal phalanges of the hand, Cleft upper lip, Optic ne...	OMIM:607597
Metachondromatosis	Multiple enchondromatosis, Bowing of the long bones	OMIM:156250
Enchondromatosis, Multiple, Ollier Type	Abnormal long bone morphology, Multiple enchondromatosis	OMIM:166000
Alpha-Mannosidosis	Mandibular prognathia, Short neck, Widely spaced teeth, Hypoplastic inferior ilia, Chronic otitis...	ORPHA:61
Microphthalmia With Limb Anomalies	Anophthalmia, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5t...	OMIM:206920
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Cone-shaped epiphyses ...	OMIM:190350
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Elbow dislocation, Absent radius, ...	OMIM:171480
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Synophrys, Brachycephaly, Abnormal form of the vertebral bodies, Downturne...	ORPHA:1327
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, ...	OMIM:249600
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn...	ORPHA:75508
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Brachycephaly, Glossoptosis, High...	ORPHA:861
Intellectual Disability, Wolff Type	Microretrognathia, Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, Thick lower li...	ORPHA:3080
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Micrognathia, Multiple prenatal fractures, Short neck, Flexion contracture, Brachycep...	OMIM:616897
Oculodentodigital Dysplasia, Autosomal Recessive	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Long nose, Brachycephaly, Microcornea, ...	OMIM:257850
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Fibular hypoplasia, Aplasia/Hyp...	OMIM:612447
Frontofacionasal Dysplasia	Cataract, Depressed nasal bridge, Choanal atresia, Short stature, Bifid nasal tip, Limbal dermoid...	ORPHA:1791
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali...	ORPHA:2141
Blepharophimosis-Impaired Intellectual Development Syndrome	Synophrys, Flexion contracture, Low anterior hairline, Short philtrum, Widely spaced teeth, Clino...	OMIM:619293
Mosaic Trisomy 9	Micromelia, Micrognathia, Short neck, Hemivertebrae, Finger clinodactyly, High palate, Biparietal...	ORPHA:99776
Larsen-Like Syndrome	Joint laxity, Joint dislocation, Frontal bossing, Short stature, Kyphoscoliosis, Wide anterior fo...	OMIM:608545
Acrofacial Dysostosis, Catania Type	Coarse hair, Short palm, Clinodactyly of the 5th finger, Spina bifida occulta, Microretrognathia,...	ORPHA:1786
Aarskog-Scott Syndrome	Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Clinodactyly...	ORPHA:915
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, Brachycephaly,...	OMIM:234100
Rubinstein-Taybi Syndrome 2	Micrognathia, Prominent nose, High palate, Prominent fingertip pads, Syndactyly, Broad hallux, Sh...	OMIM:613684
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, High palate, Thoracic kypho...	ORPHA:163649
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Flat occiput, Dental crowding, Micrognathia, Short neck, Generalized joint laxity, Ti...	ORPHA:251028
Cerebrooculonasal Syndrome	Anophthalmia, Sparse eyelashes, Sparse eyebrow, Postaxial hand polydactyly, Brachycephaly, Facial...	ORPHA:66625
Spondyloepimetaphyseal Dysplasia, Missouri Type	Disproportionate short stature, Flared metaphysis, Knee osteoarthritis, Flattened epiphysis, Tibi...	ORPHA:93356
Muenke Syndrome	Midface retrusion, Broad hallux, Capitate-hamate fusion, Clinodactyly, Dental malocclusion, Brach...	OMIM:602849
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, Prominen...	OMIM:210600
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho...	ORPHA:93328
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Short stature, Micrognathia, Cryptorchidism, Abnormal sacr...	ORPHA:1988
Mulibrey Nanism	Frontal bossing, Wide nose, Dental crowding, Depressed nasal bridge, Corneal dystrophy, Short sta...	OMIM:253250
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Broad metacarpa...	ORPHA:56304
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Feingold Syndrome 2	Short stature, Short middle phalanx of the 2nd finger, Short thumb, Postnatal growth retardation,...	OMIM:614326
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert...	OMIM:108720
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h...	OMIM:256050
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi...	OMIM:142900
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly, Short stature	OMIM:300484
Acrodysostosis 1 With Or Without Hormone Resistance	Mandibular prognathia, Mild postnatal growth retardation, Accelerated skeletal maturation, Hypopl...	OMIM:101800
Acrofacial Dysostosis, Weyers Type	Abnormal fingernail morphology, Abnormality of the dentition, Conical tooth, Hypoplastic toenails...	ORPHA:952
Anophthalmia Plus Syndrome	Anophthalmia, Choanal atresia, Abnormal nasal morphology, Non-midline cleft lip, Facial cleft, Cl...	ORPHA:1104
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, Micrognathia, Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Facial cleft, A...	OMIM:239800
Short Stature, Brussels Type	Microretrognathia, Short stature, Delayed epiphyseal ossification, Growth delay, Calcification of...	ORPHA:2867
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow...	ORPHA:85170
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Short neck, Bilateral cryptorchidism, Flexion contractur...	OMIM:263650
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Short stature, Micrognat...	OMIM:602471
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Cleft sof...	OMIM:616331
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Reduced bone mineral density, Glosso...	ORPHA:94068
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Patellar aplasia, Abnormal fibula morphology, Apl...	ORPHA:988
Momo Syndrome	Large for gestational age, Short neck, Brachycephaly, Femoral bowing, High palate, Abnormal bone ...	ORPHA:2563
Frank-Ter Haar Syndrome	Osteopenia, Flat occiput, Anterior concavity of thoracic vertebrae, Micrognathia, Abnormally larg...	OMIM:249420
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ...	OMIM:201170
Mcdonough Syndrome	Mandibular prognathia, Short stature, Cachexia, Micrognathia, Open bite, Prominent nose, Underdev...	ORPHA:2471
Eiken Syndrome	Absence of the sacrum, Epiphyseal dysplasia, Abnormal acetabulum morphology, Short stature, Abnor...	ORPHA:79106
Three M Syndrome 2	Short neck, High palate, Intrauterine growth retardation, Long philtrum, Lumbar hyperlordosis, An...	OMIM:612921
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Short neck, Low anterior hairline, Coxa vara, Microcornea, High palate,...	ORPHA:800
Craniosynostosis 3	Hallux valgus, Sagittal craniosynostosis, Dental malocclusion, Low anterior hairline, Left unicor...	OMIM:615314
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, Synophrys, High palate, Clinodactyly of the 5th finger, Spina bifida...	OMIM:617877
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Zimmermann-Laband Syndrome	Micrognathia, Short neck, Overtubulated long bones, High palate, Absent fingernail, Bifid uvula, ...	ORPHA:3473
Trichothiodystrophy 9, Nonphotosensitive	Joint laxity, Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse ha...	OMIM:619692
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Coronal craniosynostosis, Knee dislocation, Irregular epiphyses of the metacarpals,...	OMIM:614078
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
X-Linked Intellectual Disability, Siderius Type	Broad nasal tip, Cleft upper lip, Preaxial hand polydactyly, Synophrys, Cryptorchidism, Orofacial...	ORPHA:85287
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Brachycephaly, Abnorm...	ORPHA:819
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Intellectual Disability And Myopathy Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Lumbar hyperlordosis, Broad nasal tip, Achi...	OMIM:619719
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati...	OMIM:608940
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Bro...	OMIM:609052
Frontonasal Dysplasia 1	Median cleft lip, Cataract, Broad nasal tip, Hypoplasia of the maxilla, Bifid nasal tip, Postaxia...	OMIM:136760
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Distal Deletion 10P	Short stature, Abnormal fingernail morphology, Joint stiffness, Micrognathia, Short neck, Non-mid...	ORPHA:1580
Frontonasal Dysplasia 2	Aplasia of the nasal bone, Cleft ala nasi, Conical tooth, Bilateral cryptorchidism, Depressed nas...	OMIM:613451
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Flat occiput, Abnormal finger morphology, Brachycephaly, Short palm, Large...	ORPHA:2511
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Microphthalmia, Syndromic 12	Anophthalmia, Intestinal malrotation, Broad nasal tip, Micrognathia, Cryptorchidism, Wide nasal b...	OMIM:615524
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Brachycephaly, Cu...	OMIM:101200
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Facial cleft, Foot oli...	OMIM:601357
Kniest Dysplasia	Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abnormal ...	OMIM:156550
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Short neck, Hypoplasia of the maxilla, Bilateral cryptor...	OMIM:305400
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Delayed epiphyseal ...	ORPHA:166016
Hamamy Syndrome	Osteopenia, Micrognathia, Brachycephaly, High palate, Clinodactyly of the 5th finger, Sparse hair...	OMIM:611174
Omodysplasia 2	Short humerus, Micrognathia, Fibular hypoplasia, Limited elbow flexion/extension, Hypoplastic dis...	OMIM:164745
Frontonasal Dysplasia 3	Absent eyebrow, Sparse eyelashes, Underdeveloped nasal alae, Brachycephaly, Wide nasal bridge, Cl...	OMIM:613456
Short Syndrome	Enlarged epiphyses, Micrognathia, Downturned corners of mouth, Megalocornea, Joint laxity, Delaye...	OMIM:269880
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Trisomy 13	Anophthalmia, High, narrow palate, Abnormality of the fontanelles or cranial sutures, Iris colobo...	ORPHA:3378
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Mandibular prognathia, Anteverted nares, Tapered finger, Long fingers, Dental malocclusion, High ...	OMIM:618292
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ...	ORPHA:3312
Achondroplasia	Limited hip extension, Bowing of the legs, Generalized joint laxity, Femoral bowing, Choanal sten...	OMIM:100800
Catel-Manzke Syndrome	Short stature, Camptodactyly of finger, Highly arched eyebrow, Joint stiffness, Micrognathia, Met...	ORPHA:1388
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Short stature, Abnormal fingernail morphology,...	ORPHA:3079
Disorganization, Mouse, Homolog Of	Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication, Sacral mening...	OMIM:223200
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Small for gestational age, Short stature, Micrognathia, D...	OMIM:610883
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Necrotizing enterocolitis, Toe syndactyly, Anteverted nares, Depress...	OMIM:616809
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, High palate, Premature l...	OMIM:102500
Langer Mesomelic Dysplasia	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/...	ORPHA:2632
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Vertebral clefting, Dental malocclusion, Short columella, Short nose, Pat...	OMIM:155050
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Short neck, Osteoarthritis, Abnormal iliac wing morphology, Tibial...	ORPHA:1427
Kabuki Syndrome 2	Micrognathia, High palate, Prominent fingertip pads, Joint laxity, Short stature, Highly arched e...	OMIM:300867
Diastrophic Dysplasia	Joint dislocation, Proximal placement of thumb, Micrognathia, Micromelia, Symphalangism affecting...	ORPHA:628
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Accelerated skeletal maturation, Knee dislocation, Irregular...	OMIM:618363
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Cleft upper lip, Short neck, Cleft palate, G...	OMIM:244600
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Arthrogryposis, Distal, Type 1C	Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ...	OMIM:619110
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High palate, Cli...	OMIM:300373
Atelosteogenesis Type I	Joint dislocation, Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossifica...	ORPHA:1190
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Fanconi Anemia, Complementation Group S	Macrodontia, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Proximal placem...	OMIM:617883
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Flexion contracture, Low anterior hairline, Dislocated radial he...	OMIM:605039
Cornelia De Lange Syndrome 5	Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Low anterior hairline, Brachyce...	OMIM:300882
Oculocerebrocutaneous Syndrome	Finger syndactyly, Alopecia, Congenital hip dislocation, Corneal opacity, Talipes, Abnormal finge...	ORPHA:1647
Harrod Syndrome	Cataract, Arachnodactyly, Long nose, Kyphosis, Cryptorchidism, Dental malocclusion, Abnormal shou...	ORPHA:2115
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Weismann-Netter Syndrome	Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h...	ORPHA:3344
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Brachycephaly, Coxa vara, Gl...	ORPHA:1452
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Short neck, Webbed neck, Anteriorly placed anus, Downturned corners of mouth, Short...	OMIM:616894
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Brachydactyly Type A1	Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys...	ORPHA:93388
Acrootoocular Syndrome	Abnormal finger flexion crease, Micrognathia, High, narrow palate, Anodontia, Short metacarpal, S...	ORPHA:2980
Zechi-Ceide Syndrome	Wide nose, Sandal gap, Cleft upper lip, Underdeveloped nasal alae, Short metatarsal, Wide nasal b...	OMIM:612916
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Thin upper lip vermilion, Micrognathia, Deep philtrum, Dental malocclusion, Low anter...	ORPHA:329178
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Acrofacial Dysostosis, Palagonia Type	Micrognathia, Short neck, High, narrow palate, Low anterior hairline, Abnormal form of the verteb...	ORPHA:1787
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Micrognathia, Bowing of the legs, Shor...	OMIM:255800
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Micrognathia, Short neck, Deep philtrum, Web...	OMIM:115150
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Baraitser-Winter Syndrome 1	Short neck, Orofacial cleft, Iris coloboma, Anteverted nares, Short stature, Highly arched eyebro...	OMIM:243310
Intellectual Developmental Disorder, Autosomal Recessive 39	Hallux valgus, Short stature, Kyphoscoliosis, Prominent nose, Synophrys, Dental malocclusion	OMIM:615541
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Midface retrusion, Depressed ...	OMIM:613849
Thanatophoric Dysplasia Type 1	Frontal bossing, Bowing of the long bones, Short femur, Depressed nasal bridge, Cloverleaf skull,...	ORPHA:1860
Cerebrooculonasal Syndrome	Anophthalmia, Brachycephaly, Downturned corners of mouth, High palate, Iris coloboma, Anteverted ...	OMIM:605627
Hall-Riggs Syndrome	Prominent nose, Downturned corners of mouth, Coarse hair, Anteverted nares, Abnormal dental ename...	ORPHA:2107
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Oculodentodigital Dysplasia	Dry hair, Selective tooth agenesis, Uveitis, Microcornea, Fragile nails, High palate, Joint contr...	OMIM:164200
Oculodentodigital Dysplasia	Mandibular prognathia, Brittle hair, Micrognathia, Clinodactyly, Abnormal form of the vertebral b...	ORPHA:2710
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, High ...	OMIM:182212
Metatropic Dysplasia	Cataract, Depressed nasal bridge, Camptodactyly of finger, Micromelia, Joint stiffness, Abnormal ...	ORPHA:2635
Rhizomelic Syndrome, Urbach Type	Micrognathia, Short neck, Abnormal form of the vertebral bodies, High palate, Triphalangeal thumb...	ORPHA:3098
Pierpont Syndrome	Short neck, Brachycephaly, Microcornea, Widely spaced teeth, Short palm, Prominent fingertip pads...	OMIM:602342
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Micromelia, A...	ORPHA:2639
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Cornelia De Lange Syndrome 2	Limited elbow movement, Micrognathia, Proximal placement of thumb, Short neck, Synophrys, Low ant...	OMIM:300590
Rhizomelic Chondrodysplasia Punctata, Type 1	Frontal bossing, Calcific stippling of infantile cartilaginous skeleton, Severe short stature, De...	OMIM:215100
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Orofaciodigital Syndrome Iv	Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polyda...	OMIM:258860
Craniofrontonasal Syndrome	Ridged nail, Short neck, Brachycephaly, Fragile nails, Clinodactyly of the 5th finger, Joint laxi...	OMIM:304110
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Poliosis, Kyphosis, Dental malocclusion, Patchy alopec...	OMIM:141300
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, Vertebral segmentation defect, High palate, Clinodactyl...	OMIM:616580
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Short neck, Brachycephaly, High palate, Clinodactyly...	OMIM:612582
Auriculocondylar Syndrome 2A	Dental crowding, Micrognathia, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyl...	OMIM:614669
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Peripheral opacification of the cornea, Micrognathia, Hypoplasia of the maxilla, Meta...	OMIM:259600
Oculocerebrocutaneous Syndrome	Alopecia, Cleft ala nasi, Congenital hip dislocation, Anophthalmia, Cryptorchidism, Cleft palate,...	OMIM:164180
Pierpont Syndrome	Short neck, Brachycephaly, Microcornea, Widely spaced teeth, Prominent fingertip pads, Joint laxi...	ORPHA:487825
Rapp-Hodgkin Syndrome	Conical tooth, Hypoplasia of the maxilla, 2-3 toe cutaneous syndactyly, Microdontia, Sparse hair,...	OMIM:129400
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Dental crowding, Micrognathia, Hypoplasia of the ma...	OMIM:180849
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Frontal bossing, Camptodactyly of finger, Lip pit, Tapered finger, Supernu...	ORPHA:1236
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft upper lip, Talipes calcaneovalgus, Cleft palate, Microphthalmia	OMIM:600251
Chromosome 1Q41-Q42 Deletion Syndrome	Tented upper lip vermilion, Deep philtrum, Vertebral segmentation defect, Widely spaced teeth, Hi...	OMIM:612530
Mesomelic Dysplasia, Kantaputra Type	Short stature, Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, A...	ORPHA:1836
Acrodysostosis	Mandibular prognathia, Micromelia, Accelerated skeletal maturation, Hypoplasia of the maxilla, De...	ORPHA:950
Fryns Microphthalmia Syndrome	Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Abnormality of the vertebral column, ...	OMIM:600776
Robinow Syndrome	Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, High anterior hairline, Fused thor...	ORPHA:97360
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Micrognathia, Prominent nose, Short neck, Anteriorl...	OMIM:305450
Acrofrontofacionasal Dysostosis	Brachydactyly, Short stature, Camptodactyly of finger, Micromelia, Broad nasal tip, Brushfield sp...	ORPHA:1784
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Rhizomelia, Micrognathia, Disproportionate short stature, Epiphyseal stippling, Ab...	OMIM:222765
Hartsfield Syndrome	Depressed nasal bridge, Craniosynostosis, Non-midline cleft lip, Split hand, Cleft palate, Aplasi...	ORPHA:2117
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyse...	OMIM:251450
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Progeria-Short Stature-Pigmented Nevi Syndrome	Osteopenia, Thoracic scoliosis, Multiple joint contractures, Selective tooth agenesis, Micrognath...	ORPHA:2959
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Short stature, Prominent nose, Short middle phalanx of...	OMIM:617926
Koolen-De Vries Syndrome	Positional foot deformity, High palate, Widely spaced teeth, Prominent fingertip pads, Iris hypop...	OMIM:610443
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip...	ORPHA:411986
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Abnormally large globe, Anteriorly placed anus...	OMIM:239300
Acromesomelic Dysplasia, Maroteaux Type	Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Ovoid vertebral bodies, Joint ...	ORPHA:40
Intermediate Osteopetrosis	Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Abnormal dental morphology, Re...	ORPHA:210110
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Flat occiput, Patellar hypoplasia, High palate, Short ph...	ORPHA:3041
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A...	ORPHA:401942
Non-Distal Duplication 10Q	Frontal bossing, Depressed nasal bridge, Short stature, Micrognathia, Cryptorchidism, Brachycepha...	ORPHA:1695
Cri-Du-Chat Syndrome	Short neck, Short metatarsal, Orofacial cleft, Downturned corners of mouth, Premature graying of ...	OMIM:123450
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Brachycep...	ORPHA:3103
Momo Syndrome	Delayed eruption of teeth, Frontal bossing, Hyperconvex nail, Short neck, Delayed skeletal matura...	OMIM:157980
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Thin upper lip vermilion, Lumbar hypertrichosis, Tented upper lip vermilio...	OMIM:618622
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Hypoplastic toenails, S...	OMIM:166250
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Mandibular prognathia, Brachydactyly, Short stature, Abnormality of the dentition, Kyphosis, Dent...	ORPHA:1858
Dysostosis, Stanescu Type	Persistent open anterior fontanelle, Micromelia, Short neck, Hypoplasia of the maxilla, Brachycep...	ORPHA:1798
3Mc Syndrome 3	Sacral dimple, Corneal opacity, Short stature, Highly arched eyebrow, Cleft upper lip, Cryptorchi...	OMIM:248340
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Meckel Syndrome, Type 8	Anophthalmia, Cleft upper lip, Short neck, Depressed nasal ridge, Cleft palate, Polydactyly, Tali...	OMIM:613885
Bartsocas-Papas Syndrome	Finger syndactyly, Median cleft lip, Toe syndactyly, Talipes, Corneal opacity, Micrognathia, Unde...	ORPHA:1234
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Micrognathia, ...	ORPHA:56305
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, Large for gesta...	OMIM:213980
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Short stature, Micrognathia, Diastema, Underdeveloped nasal alae, Short neck, Dental malocclusion...	ORPHA:436245
Catel-Manzke Syndrome	Joint dislocation, Micrognathia, Short neck, Glossoptosis, High palate, Clinodactyly of the 5th f...	OMIM:616145
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Frontal bossing, Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Microg...	ORPHA:440354
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Short neck, Flexion contracture, Talipes calcaneovalgu...	OMIM:265000
Acromelic Frontonasal Dysostosis	Preaxial polydactyly, Brachycephaly, Patellar hypoplasia, Short tibia, Syndactyly, Cleft upper li...	OMIM:603671
Grant Syndrome	Joint dislocation, Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Short statu...	ORPHA:2097
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Cone-shaped epiphyses of the phalanges of the hand, Short 4t...	ORPHA:420794
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os...	ORPHA:93357
Craniosynostosis And Dental Anomalies	Mandibular prognathia, Flat occiput, Dental crowding, Hypoplasia of the maxilla, Brachycephaly, C...	OMIM:614188
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Depressed nasal ridge...	ORPHA:828
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
3Mc Syndrome 2	Limited elbow movement, Downturned corners of mouth, High palate, Abnormal vertebral morphology, ...	OMIM:265050
Ollier Disease	Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology, Micromelia	ORPHA:296
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Sparse eyelashes, Camptodactyly of finger, Underdeveloped nasal alae, Hypoplasia of the...	ORPHA:306542
Chromosome 3Pter-P25 Deletion Syndrome	Flat occiput, Micrognathia, Synophrys, Brachycephaly, Downturned corners of mouth, High palate, P...	OMIM:613792
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Micrognathia, Synophrys, Palmoplantar hyperkeratosis, Sparse hair, Dystrophic fingernails, Anodon...	ORPHA:3253
Myopathy, Myofibrillar, 8	Pes planus, Micrognathia, Spinal rigidity, Distal joint laxity, Achilles tendon contracture, Dent...	OMIM:617258
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Cervical k...	ORPHA:666
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Kyphosis, Cryptorchidism,...	ORPHA:90322
Cornelia De Lange Syndrome 1	Proximal placement of thumb, Micrognathia, Micromelia, High, narrow palate, Short neck, Synophrys...	OMIM:122470
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Wide cranial sutures, Frontal bossing, Scaphocephaly, Dental malocclusi...	OMIM:619149
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Hyperextensibility of the knee, Micrognathia, Hypoplasia of the maxill...	OMIM:601812
Cofs Syndrome	Prominent metopic ridge, Cataract, Short stature, Camptodactyly of finger, Talipes, Joint stiffne...	ORPHA:1466
2Q32Q33 Microdeletion Syndrome	Dental crowding, Micrognathia, Brachycephaly, Oligodontia, High palate, Clinodactyly of the 5th f...	ORPHA:251019
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Short neck, Depressed nasal ridge, Gingival fibromatosis, Gingiva...	ORPHA:1832
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Thick nasal sept...	OMIM:303600
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of ...	OMIM:200990
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Micromelia, Short neck, Delayed epiphyseal ossification, Deep philtrum, Dysplastic sacrum, Anteve...	OMIM:613320
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Low anterior hairline, Coxa vara, Metaphys...	OMIM:300232
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Short stature, Choanal atresia, Hypogonadotropic hypogonadism, Cleft upper lip, Crypt...	OMIM:147950
Fetal Alcohol Syndrome	Thin upper lip vermilion, Anteverted nares, Short stature, Joint stiffness, Micrognathia, Non-mid...	ORPHA:1915
Odontochondrodysplasia	Delayed eruption of teeth, Frontal bossing, Bowing of the long bones, Depressed nasal bridge, Sho...	ORPHA:166272
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Short stature, Underdeveloped nasal alae, Dental malocclusion, Widely spaced teeth, Mal...	OMIM:616108
Mucolipidosis Type Iii	Craniofacial hyperostosis, Corneal opacity, Short stature, Acne, Joint stiffness, Hyperlordosis, ...	ORPHA:577
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Flexion contracture, Brachycephaly, Downturned corners of mouth, Pariet...	OMIM:264090
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Clinodactyly of t...	ORPHA:2616
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Osteopathia Striata-Cranial Sclerosis Syndrome	Flat occiput, Micrognathia, High, narrow palate, Brachycephaly, Large iliac wing, Spina bifida oc...	ORPHA:2780
Trisomy 1Q	Microretrognathia, Frontal bossing, Wide nose, Toe syndactyly, Depressed nasal bridge, Camptodact...	ORPHA:261344
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Short stature, Craniosynostosis, Micrognathia, Micromelia, Split...	ORPHA:2145
Emanuel Syndrome	Multiple joint contractures, Dental crowding, Congenital hip dislocation, Micrognathia, High pala...	ORPHA:96170
Supernumerary Nostril	Choanal atresia, Facial cleft, Developmental cataract, Microcornea, Supernumerary naris, Abnormal...	ORPHA:141096
Cerebellar-Facial-Dental Syndrome	Micrognathia, Short neck, Sparse hair, Anteverted nares, Tapered finger, Sparse eyebrow, Cryptorc...	ORPHA:444072
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Brachyceph...	OMIM:211380
Pycnodysostosis	Ridged nail, Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Prominent...	OMIM:265800
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Anophthalmia, Cleft ala nasi, Dental crowding, Cutaneous finger ...	OMIM:219000
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Prominent nose, High palate, Spontaneous conjunctival filtering bleb, Bifid uvula, Joint laxity, ...	OMIM:601552
Endosteal Hyperostosis, Autosomal Dominant	Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Abnormal pelvic girdle bone morpholo...	OMIM:144750
Blepharonasofacial Malformation Syndrome	Finger syndactyly, Wide nose, Underdeveloped nasal alae, Abnormal eyelash morphology, Cryptorchid...	ORPHA:1252
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Prominent nose, Short neck, Low anterior hair...	OMIM:601808
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnorm...	OMIM:300244
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Chromosome 16Q22 Deletion Syndrome	Frontal bossing, Prominent metopic ridge, Small for gestational age, Depressed nasal bridge, Broa...	OMIM:614541
Multiple Pterygium Syndrome, X-Linked	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Cleft upper ...	OMIM:312150
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Brachycephaly, Prominent interphalangeal joints, Downturn...	OMIM:618371
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Mandibular prognathia, Arthrogryposis multiplex congenita, High palate, Dental malocclusion	OMIM:608931
Charlie M Syndrome	Finger syndactyly, Abnormal fingernail morphology, Micrognathia, Non-midline cleft lip, Split han...	ORPHA:1406
Temple Syndrome	Micrognathia, Flexion contracture, High palate, Short philtrum, Bifid uvula, Anteverted nares, De...	OMIM:616222
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Micrognathia, Accelerated skeletal maturation, Synophrys, High palate, Clin...	OMIM:605130
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Micrognathia, Underdeveloped nasal alae, Kyphosis, Deep philtrum, Depress...	ORPHA:77300
Kapur-Toriello Syndrome	Cataract, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Short neck, Short thu...	OMIM:244300
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Prominent nose, Short neck, Delayed epiphyseal ossification, Flexion co...	OMIM:210710
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Frontal bossing, Depressed nasal bridge, Sclerotic scapulae, D...	OMIM:269500
Phenobarbital Embryopathy	Mandibular prognathia, Aplasia/Hypoplasia of fingers, Abnormal nasal base norphology, Aplasia/Hyp...	ORPHA:1919
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Micrognathia, Short neck, Hemivertebrae, Brachycephaly, Short philtrum, H...	ORPHA:96121
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Craniofrontonasal Dysplasia	Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate, Clinodactyly of the 5th finge...	ORPHA:1520
X-Linked Intellectual Disability, Abidi Type	Short stature, Prominent nasal bridge, Non-midline cleft lip, Cleft palate, Scoliosis, Decreased ...	ORPHA:85273
Auriculocondylar Syndrome 1	Dental crowding, Micrognathia, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle h...	OMIM:602483
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Short stature, Micromelia, Micrognathia, Elbow dis...	ORPHA:93329
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Short stature, M...	ORPHA:2863
Nail-Patella Syndrome	Back pain, Ridged nail, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Hypoplasia of...	OMIM:161200
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Ve...	ORPHA:2631
Burn-Mckeown Syndrome	Mandibular prognathia, Short stature, Choanal atresia, Prominent nasal bridge, Cleft upper lip, M...	OMIM:608572
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, For...	OMIM:251230
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Odontotrichoungual-Digital-Palmar Syndrome	Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Brachydactyly, Abnormality of ha...	OMIM:601957
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia...	OMIM:616300
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi...	OMIM:184253
Microtriplication 11Q24.1	Joint dislocation, Short neck, Synophrys, Short philtrum, Clinodactyly of the 5th finger, Keratoc...	ORPHA:289522
Holoprosencephaly	Anophthalmia, Flat occiput, Short neck, Deep philtrum, Synophrys, Depressed nasal ridge, Abnormal...	ORPHA:2162
Mycophenolate Mofetil Embryopathy	Micrognathia, Hypoplastic toenails, Tracheoesophageal fistula, Orofacial cleft, Facial cleft, Bif...	ORPHA:268249
Shox-Related Short Stature	Short stature, Micrognathia, Madelung deformity, Genu valgum, Short foot, Tibial bowing, Forearm ...	ORPHA:314795
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Focal Dermal Hypoplasia	Ridged nail, Congenital hip dislocation, Cleft ala nasi, Anophthalmia, Brittle hair, Osteopathia ...	OMIM:305600
Takenouchi-Kosaki Syndrome	Proximal placement of thumb, Synophrys, Downturned corners of mouth, Short philtrum, Widely space...	OMIM:616737
Faciodigitogenital Syndrome, Autosomal Recessive	Deep philtrum, Brachycephaly, High palate, Clinodactyly of the 5th finger, Vertebral fusion, Synd...	OMIM:227330
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vert...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Vert...	ORPHA:352665
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Fibrochondrogenesis 1	Short neck, Hypoplastic toenails, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5...	OMIM:228520
Hydrolethalus	Anophthalmia, Micromelia, Micrognathia, Cryptorchidism, Postaxial hand polydactyly, Submucous cle...	ORPHA:2189
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, High, narrow palate, S...	OMIM:119600
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Short ribs, Talipes...	OMIM:607143
Pallister-Hall-Like Syndrome	Median cleft lip, Depressed nasal bridge, Toe syndactyly, Micromelia, Micrognathia, Short stature...	OMIM:241800
Cockayne Syndrome B	Mandibular prognathia, Dry hair, Ivory epiphyses of the phalanges of the hand, Microcornea, Hypop...	OMIM:133540
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short stature, Dolichocephaly, Limitation of joint mobility, Upper limb undergrowth, Short foot, ...	ORPHA:166277
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ...	OMIM:164900
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Cryptorchidism, Orofacial cleft, Split foot, Triphalange...	ORPHA:3434
Lowry-Maclean Syndrome	Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Bilateral cryptorchidis...	ORPHA:2409
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Premature ovarian insufficiency, Overlapping toe, Endometriosis, Abnormality of the dentition, Ca...	ORPHA:363444
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint dislocation, Micromelia, Accelerated skeletal maturation, Finger joint hypermobility, Joint...	OMIM:618870
Distal Monosomy 7Q36	Short stature, Micrognathia, Short neck, Cryptorchidism, Bulbous nose, Non-midline cleft lip, Cle...	ORPHA:1636
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Short stature, Hamartoma of tongue, A...	OMIM:277170
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Cryptorchidism, Cleft palate, Orofacial cleft, Microcorne...	OMIM:601349
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Micrognathia, High palate, Short philtrum, Bifid uvula, Anteverted nares, Depressed nasal bridge,...	ORPHA:96184
Kbg Syndrome	Persistent open anterior fontanelle, Short neck, Synophrys, Finger clinodactyly, Widely-spaced ma...	ORPHA:2332
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Mandibular prognathia, Brachycephaly, Clinodactyly of the 5th finger, Prominent fingertip pads, T...	OMIM:619721
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Anteverted nares, Cleft upper lip, Bulbous nose, Wide nasal bridge, Cleft palate, Brachycephaly, ...	OMIM:300958
Orofaciodigital Syndrome Ix	Toe syndactyly, Short stature, Hand polydactyly, Camptodactyly, Short tibia	OMIM:258865
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Dental crowding, Micrognathia, Cleft hard palate, Short neck, Synophrys, Clinodactyly of the 5th ...	OMIM:300990
Pseudodiastrophic Dysplasia	Micrognathia, Short neck, Brachycephaly, Tongue-like lumbar vertebral deformities, Lumbar hyperlo...	OMIM:264180
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Broad hallux, Sandal gap, Persistence of primary teeth, Conical tooth, Scarring alopeci...	OMIM:618727
Fatco Syndrome	Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen...	ORPHA:2492
Rhizomelic Chondrodysplasia Punctata	Alopecia, Cataract, Rhizomelia, Short stature, Abnormality of the dentition, Limitation of joint ...	ORPHA:177
Anauxetic Dysplasia 2	Short neck, Flexion contracture, Coxa vara, Sparse hair, Hypoplasia of the femoral head, Short st...	OMIM:617396
Otopalatodigital Syndrome Type 1	Proximal placement of thumb, Oligodontia, Short palm, Abnormal vertebral segmentation and fusion,...	ORPHA:90650
Noonan Syndrome 4	Curly hair, Depressed nasal bridge, Short stature, Large for gestational age, Short neck, Sparse ...	OMIM:610733
Mosaic Trisomy 14	Frontal bossing, Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Micrognathia,...	ORPHA:1703
Pelviscapular Dysplasia	Frontal bossing, Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Sh...	ORPHA:93333
2Q24 Microdeletion Syndrome	Toe syndactyly, Small for gestational age, Camptodactyly of finger, Cataract, Short neck, Long fi...	ORPHA:1617
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Fibula...	OMIM:258315
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Epiphyseal dysplasia, Enlarged epiphyses, Anteverted nares, Depressed nasal bridge, Premature ost...	OMIM:184840
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Abnormality of the philtrum, Sparse eyelashes, Cleft upper lip, Sparse eyebrow, Abn...	OMIM:225060
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Three M Syndrome 1	Joint dislocation, Mandibular prognathia, Short neck, Increased vertebral height, Clinodactyly of...	OMIM:273750
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Alopecia, Anteverted nares, Short stature, Craniosynostosis, Wide anterior fontanel...	OMIM:601853
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Joint stiffness, Micrognathia, Hypoplasi...	ORPHA:245
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Thickened calvaria, Optic disc hypoplasia, Synophrys, Downturned corners of mouth, Hy...	ORPHA:3455
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism	ORPHA:1074
C Syndrome	Micromelia, Micrognathia, High palate, Thick anterior alveolar ridges, Dislocated radial head, Sh...	OMIM:211750
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the knee, Abnormality of the epiphyses of the elbow, Short stature, Osteoarthritis...	ORPHA:166002
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Small for gestational age, Short stature, Fifth finger distal phalanx clinodactyly, Postnatal gro...	ORPHA:3369
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal...	ORPHA:2007
Craniometadiaphyseal Dysplasia	Osteopenia, Mandibular prognathia, Dental crowding, Abnormally large globe, High palate, Microdon...	OMIM:269300
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ...	OMIM:607323
Ruvalcaba Syndrome	Short metacarpal, Dental crowding, Short stature, Micromelia, Underdeveloped nasal alae, Kyphosis...	OMIM:180870
Bent Bone Dysplasia Syndrome 2	Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Short sternum, Short ri...	OMIM:620076
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short neck, Clinodactyly, Hemivertebra...	OMIM:268310
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Sclerocornea, Micrognathia, Abnormal form of the vertebral bodies, Downt...	ORPHA:280
Trisomy 9P	Sacral dimple, Hypoplastic fingernail, Dental crowding, Short neck, Abnormal nasal morphology, Ky...	ORPHA:236
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Thin upper lip vermilion, Thick eyebrow, Anteverted nares, Depressed nasal bridge, Micrognathia, ...	ORPHA:480907
Schneckenbecken Dysplasia	Short neck, Snail-like ilia, Dumbbell-shaped long bone, Flat acetabular roof, Advanced tarsal oss...	OMIM:269250
Slc35A2-Cdg	Short stature, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus adductus,...	ORPHA:356961
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Accelerated skele...	ORPHA:439822
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M...	OMIM:227270
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Abnormal hand morphology, Metap...	ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cataract, Depressed nasal bridge, Abnormal distal phalanx morphology of finger, Short stature, Mi...	ORPHA:1387
Craniolenticulosutural Dysplasia	Osteopenia, Brittle hair, Coarse hair, High palate, Sparse hair, Bifid uvula, Joint laxity, Antev...	OMIM:607812
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Tooth agenesis, Mesomelia, Convex nasal ridge, Abnorm...	ORPHA:1277
Phelan-Mcdermid Syndrome	Sacral dimple, Thick eyebrow, Micrognathia, Dolichocephaly, Hypoplastic toenails, Bulbous nose, D...	OMIM:606232
3Mc Syndrome 1	Conjunctival telangiectasia, Dental crowding, Synophrys, Clinodactyly of the 5th finger, Abnormal...	OMIM:257920
Carpenter Syndrome 2	Short neck, Bilateral cryptorchidism, High, narrow palate, Preaxial polydactyly, Brachycephaly, C...	OMIM:614976
Coffin-Siris Syndrome 3	High palate, Joint laxity, Anteverted nares, Depressed nasal bridge, Short stature, Delayed skele...	OMIM:614608
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Short neck, Synophrys, Wide nasal bridge, Downturned corners of mouth, Truncal o...	OMIM:613192
Juberg-Hayward Syndrome	Aplasia/Hypoplasia of the thumb, Short stature, Highly arched eyebrow, Cleft upper lip, Abnormal ...	OMIM:216100
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Waardenburg Syndrome Type 1	Mandibular prognathia, Hypopigmentation of hair, Tented upper lip vermilion, Aganglionic megacolo...	ORPHA:894
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Micrognathia, Bowing of the legs, Short neck, Flexion contracture, Pterygium, Anisosp...	ORPHA:1865
Greig Cephalopolysyndactyly Syndrome	Accelerated skeletal maturation, Abnormal calvaria morphology, Camptodactyly of toe, Broad hallux...	OMIM:175700
Recombinant 8 Syndrome	Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Cleft upper lip, Abnormality o...	ORPHA:96167
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Wide nose, Micrognathia, Postnatal growth retardation, Small hand, Obesity, Short foot, High pala...	ORPHA:254531
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Bone pain, Low anterior ...	ORPHA:955
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar int...	OMIM:271510
Cutis Laxa, Autosomal Recessive, Type Iiia	Congenital hip dislocation, Brachycephaly, Corneal arcus, Sparse hair, Short stature, Narrow nasa...	OMIM:219150
Unilateral Ocular Duplication	Frontal bossing, Abnormal eyebrow morphology, Median cleft lip, Abnormal pupil morphology, Midlin...	ORPHA:3374
Cenani-Lenz Syndrome	Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Short philtrum, Foot olig...	ORPHA:3258
Primary Condylar Hyperplasia	Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma...	ORPHA:477781
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal ridge, Abnormal form of the vertebral bodies, Aspiration p...	ORPHA:354
Microphthalmia, Syndromic 2	Anophthalmia, 2-3 toe cutaneous syndactyly, Flexion contracture, Microcornea, Oligodontia, Fused ...	OMIM:300166
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Frontal bossing, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short st...	OMIM:600325
Codas Syndrome	Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, Short stature...	OMIM:600373
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Plantar pits, Hemivertebrae, Parietal bossing, Iris coloboma, Vertebral fu...	OMIM:109400
Triploidy	Finger syndactyly, Cataract, Intestinal malrotation, Micrognathia, Short neck, Cryptorchidism, No...	ORPHA:3376
Trisomy 18	Abnormality of the fontanelles or cranial sutures, Webbed neck, Microcornea, Abnormal toenail mor...	ORPHA:3380
Wolf-Hirschhorn Syndrome	Micrognathia, Orofacial cleft, Abnormal form of the vertebral bodies, Downturned corners of mouth...	OMIM:194190
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Curly hair, Broad femoral n...	ORPHA:85184
Metaphyseal Acroscyphodysplasia	Joint dislocation, Frontal bossing, Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of th...	ORPHA:1240
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micromelia, Micrognathia, Absent or minimally ossified vertebral bodies, Short palm, Depressed na...	ORPHA:93271
Temple-Baraitser Syndrome	Tented upper lip vermilion, Hypoplastic thumbnail, Triangular shaped distal phalanx of the thumb,...	ORPHA:420561
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Micromelia, Short neck, Cleft max...	ORPHA:508488
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Enlarged joints, Micrognathia, Flexion contracture, Prominent interphalangeal joints, Aplasia/Hyp...	OMIM:215150
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Short stature, Pneumonia, Skin rash, Bowing of ...	ORPHA:1855
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Low anterior hairline, Brachycephaly, Abnormal form of the vertebral b...	ORPHA:794
Myopathy, Centronuclear, X-Linked	Arachnodactyly, Pyloric stenosis, Cryptorchidism, Flexion contracture, Dental malocclusion, Slend...	OMIM:310400
Orofaciodigital Syndrome Type 1	Brittle hair, Micrognathia, Reduced bone mineral density, Lobulated tongue, Coarse hair, High pal...	ORPHA:2750
Localized Scleroderma	Fasciitis, Abnormal skin adnexa morphology, Abnormality of the dentition, Abnormality of the nose...	ORPHA:90289
Coffin-Siris Syndrome 6	Frontal bossing, Depressed nasal bridge, Short stature, Kyphoscoliosis, Micrognathia, Broad nasal...	OMIM:617808
Cartilage-Hair Hypoplasia	Micromelia, Accelerated skeletal maturation, Short neck, Metaphyseal chondrodysplasia, Depressed ...	ORPHA:175
Zaki Syndrome	Sparse scalp hair, Wide nose, Toe syndactyly, Anteverted nares, Short stature, Sacral dimple, Mic...	OMIM:619648
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Depressed nasal bridge, Sandal gap, Postaxial polydactyly, Short...	OMIM:617102
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion	Micrognathia, Postnatal growth retardation, Acromicria, Small hand, Short foot, Intrauterine grow...	ORPHA:254525
Oculofaciocardiodental Syndrome	Microcornea, Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Iris coloboma, Highly arch...	ORPHA:2712
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Conical tooth, Hypoplasia of the maxilla, Widely spaced teeth, Conjunct...	OMIM:106260
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contra...	OMIM:601559
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Cleft upper lip, Micrognathia, Absent thumb, Hypoplasia of the radiu...	OMIM:602418
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Low anterior ha...	OMIM:212720
Postaxial Acrofacial Dysostosis	Cryptorchidism, Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, ...	OMIM:263750
Stickler Syndrome, Type Ii	Arthropathy, Cataract, Anteverted nares, Depressed nasal bridge, Arachnodactyly, Micrognathia, Hi...	OMIM:604841
Oliver Syndrome	Mandibular prognathia, Camptodactyly of finger, Supernumerary nipple, Short toe, Postaxial hand p...	ORPHA:2920
Atelosteogenesis, Type Iii	Cervical kyphosis, Micrognathia, Hypoplasia of the maxilla, Short neck, Tibial bowing, Knee dislo...	OMIM:108721
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Short neck, Depressed nasal ridge, Knee flexion con...	OMIM:271665
Noonan Syndrome 13	Micrognathia, Short neck, Webbed neck, High palate, Widely spaced teeth, Microdontia, Generalized...	OMIM:619087
Anencephaly 2	Anophthalmia, Median cleft lip, Cleft maxillary alveolar ridge, Bifid nose, Median cleft palate	OMIM:619452
Cockayne Syndrome A	Mandibular prognathia, Dry hair, Prominent nose, Ivory epiphyses of the phalanges of the hand, Sq...	OMIM:216400
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Joint laxity, Short stature, Coxa valga, Elbow dislocation, Pierre-Robin sequence, Advanced ossif...	OMIM:620269
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, Hypoplastic toenail...	ORPHA:2753
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Accele...	OMIM:602535
Lethal Recessive Chondrodysplasia	Micromelia, Accelerated skeletal maturation, Micrognathia, Generalized osteosclerosis, Macrogloss...	ORPHA:1423
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absent lower eyelashes, Hy...	OMIM:154400
Maxillonasal Dysplasia	Mandibular prognathia, Patchy distortion of vertebrae, Depressed nasal bridge, Aplasia/Hypoplasia...	ORPHA:1248
Dysostosis Multiplex, Ain-Naz Type	Severe short stature, Glenoid fossa hypoplasia, Hip dislocation, Flat acetabular roof, Elongated ...	OMIM:619345
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Acrocephalopolydactyly	Genu recurvatum, Premature closure of fontanelles, Short neck, Oxycephaly, Depressed nasal ridge,...	ORPHA:221054
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Laterally extended eyebrow, Small for gestational age, Rocker bottom foo...	OMIM:618804
Beta-Mercaptolactate Cysteine Disulfiduria	Frontal bossing, Anteverted nares, Arachnodactyly, Sandal gap, Micromelia, Short stature, Obesity...	ORPHA:1035
Cockayne Syndrome Type 1	Mandibular prognathia, Cataract, Foot joint contracture, Anophthalmia, Delayed eruption of primar...	ORPHA:90321
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Synophrys, Flexion contracture, Downturn...	ORPHA:487796
Ivic Syndrome	Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite...	OMIM:147750
Intellectual Developmental Disorder, X-Linked 58	Dental malocclusion, Short philtrum, Small nail	OMIM:300210
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Verheij Syndrome	Branchial cyst, Short neck, Hemivertebrae, Joint laxity, Vertebral fusion, Anteverted nares, Shor...	OMIM:615583
Anauxetic Dysplasia 3	Femoral bowing, Oligodontia, Trident hand, Short metacarpal, Depressed nasal bridge, Thoracolumba...	OMIM:618853
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Short stature, Re...	OMIM:610967
Trisomy 8Q	Camptodactyly of finger, Joint stiffness, Micrognathia, Short neck, Non-midline cleft lip, Bone c...	ORPHA:1752
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Micromelia, Micrognathia, Short neck, Metaphyseal widening, Narrow greater sciatic notch, Neonata...	OMIM:224400
Cerebellofaciodental Syndrome	Pes planus, Cataract, Short stature, Tapered finger, Short neck, Sparse eyebrow, Delayed skeletal...	OMIM:616202
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bil...	OMIM:119800
Short Stature, Dauber-Argente Type	Long toe, Arachnodactyly, Short stature, Decreased fibular diameter, Postnatal growth retardation...	OMIM:619489
Hyperparathyroidism, Transient Neonatal	Osteopenia, Frontal bossing, Wide cranial sutures, Short femur, Anteverted nares, Recurrent fract...	OMIM:618188
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Absent radius, Short humerus, Hand polydactyly, Proximal placement of thumb	OMIM:314390
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnorm...	ORPHA:3429
Achondrogenesis Type 1B	Frontal bossing, Severe short stature, Anteverted nares, Micromelia, Micrognathia, Abnormal encho...	ORPHA:93298
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Calvarial skull defect, Abno...	ORPHA:1426
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Tibial metaphyseal i...	ORPHA:457395
Renpenning Syndrome	Mandibular prognathia, Prominent nose, High, narrow palate, Short philtrum, Clinodactyly of the 5...	ORPHA:3242
4Q21 Microdeletion Syndrome	Frontal bossing, Toe syndactyly, Depressed nasal bridge, Micromelia, Abnormality of the dentition...	ORPHA:238750
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N...	ORPHA:137888
Achondrogenesis Type 1A	Short palm, Frontal bossing, Severe short stature, Anteverted nares, Recurrent fractures, Microme...	ORPHA:93299
Distal Deletion 12Q	Micrognathia, Short neck, High, narrow palate, Brachycephaly, Aplasia/Hypoplasia of the middle ph...	ORPHA:96149
Weismann-Netter Syndrome	Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula...	OMIM:112350
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Antley-Bixler Syndrome	Frontal bossing, Turricephaly, Anteverted nares, Camptodactyly of finger, Recurrent fractures, Cr...	ORPHA:83
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Iris atrophy, Short metacarpal, Short stature, Long eyebrows, Cleft upper ...	OMIM:201180
Hao-Fountain Syndrome	Hallux valgus, Trigonocephaly, Cryptorchidism, Large fontanelles, Clinodactyly of the 5th finger,...	OMIM:616863
Osteogenesis Imperfecta, Type Xiii	Reduced bone mineral density, Femoral bowing, Decreased body weight, Limitation of knee mobility,...	OMIM:614856
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Thick eyebrow, Tented upper lip vermilion, Anteverted nares, Overlapping toe...	OMIM:619383
Desbuquois Dysplasia 2	Dental crowding, Short neck, Metaphyseal widening, Synophrys, Knee dislocation, Short phalanx of ...	OMIM:615777
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short...	OMIM:201000
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Recurrent fractures, Multiple p...	OMIM:166210
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Turricephaly, Underdeveloped nasal alae, Parietal foramina, Wide...	OMIM:601224
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Increased intervertebral space, Thoracolumbar ky...	ORPHA:508533
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Osteoarthritis, Abnormality o...	ORPHA:429
Arthrogryposis And Ectodermal Dysplasia	Absent eyebrow, Short stature, Abnormal dental enamel morphology, Kyphoscoliosis, Cleft upper lip...	OMIM:601701
Klippel-Feil Syndrome 2, Autosomal Recessive	Short neck, Cleft upper lip, Cleft palate, Low posterior hairline, Fused cervical vertebrae, Scol...	OMIM:214300
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair, Dental crowding, Long nose, Oligodontia, Short palm, Astigmatism, Thick vermilion b...	OMIM:619184
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Cataract, Short stature, Mi...	ORPHA:93296
Branchiooculofacial Syndrome	Anophthalmia, Proximal placement of thumb, Micrognathia, Short neck, Premature graying of hair, C...	OMIM:113620
Coffin-Siris Syndrome 2	Low anterior hairline, High palate, Short philtrum, Anteverted nares, Depressed nasal bridge, Sho...	OMIM:614607
Pallister-Hall Syndrome	Hemivertebrae, Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Me...	OMIM:146510
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation...	ORPHA:2741
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Anophthalmia, Camptodactyly of finger, Corneal dystrophy, Dolichocephaly, ...	ORPHA:1101
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Cleft upper lip, Cleft palate, Microphthalmia, Iris coloboma	OMIM:120433
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Neonatal short-limb short stature, Severe limb shortening, Radial bowing,...	OMIM:151210
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Cataract, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of t...	ORPHA:1856
Bone Dysplasia, Lethal Holmgren Type	Joint dislocation, Metaphyseal dysplasia, Frontal bossing, Anteverted nares, Rhizomelia, Micromel...	ORPHA:1842
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Frontal bossing, Bowing of the long bones, Congenital hip dislocation, Narrow nasal r...	OMIM:612940
Chopra-Amiel-Gordon Syndrome	Thin upper lip vermilion, Short stature, Joint hypermobility, Postnatal growth retardation, Cleft...	OMIM:619504
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Microphthalmia With Brain And Digit Anomalies	Finger syndactyly, Cataract, Anophthalmia, Sclerocornea, Proximal placement of thumb, Cryptorchid...	ORPHA:139471
Blepharocheilodontic Syndrome 1	Choanal atresia, Cleft upper lip, Conical tooth, High anterior hairline, Cutaneous syndactyly, Hy...	OMIM:119580
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, Short neck, Brachycephaly, High palate, Choanal ...	OMIM:259775
Paget Disease Of Bone 5, Juvenile-Onset	Short humerus, Bowing of the long bones, Short stature, Lateral femoral bowing	OMIM:239000
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Short stature, Cleft upper lip, Brachycephaly, Cleft palate, Palmoplantar ...	OMIM:268850
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide...	OMIM:613091
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Accelerated skeletal maturation, Abnormally large globe, Short neck, Mu...	OMIM:245600
Branchio-Oculo-Facial Syndrome	Cataract, Short stature, Broad nasal tip, Preaxial hand polydactyly, Deep philtrum, Non-midline c...	ORPHA:1297
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Failure to thrive, Short stature, Kyphoscoliosis, Hip dislocation, Wide nasal bridge,...	OMIM:618005
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Choanal atresia, Lip pit, Joint stif...	ORPHA:1300
Beaulieu-Boycott-Innes Syndrome	Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Long nose, Velophary...	OMIM:613680
Gapo Syndrome	Micrognathia, High, narrow palate, Eruption failure, Sparse hair, Megalocornea, Keratoconus, Alop...	OMIM:230740
Vitamin D-Dependent Rickets, Type 2A	Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tib...	OMIM:277440
Roifman Syndrome	Delayed proximal femoral epiphyseal ossification, Downturned corners of mouth, Clinodactyly of th...	ORPHA:353298
Rapadilino Syndrome	Joint dislocation, Slender nose, Sparse scalp hair, Short stature, Sparse eyelashes, Aplasia/Hypo...	OMIM:266280
48,Xxyy Syndrome	Flat occiput, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Chronic otitis media,...	ORPHA:10
15Q24 Microdeletion Syndrome	Proximal placement of thumb, High anterior hairline, Joint laxity, Depressed nasal bridge, Short ...	ORPHA:94065
Isolated Osteopoikilosis	Bone pain, Abnormal femur morphology, Abnormal long bone morphology, Abnormal bone ossification, ...	ORPHA:166119
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Cryptorchidism, Clinodactyly, Unila...	OMIM:618577
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Intestinal malrotation, Cryptorchidism, Brachycephaly, Genu valgum, Wide mouth, Post...	OMIM:617798
German Syndrome	Abnormal eyebrow morphology, Depressed nasal bridge, Camptodactyly of finger, Short stature, Micr...	ORPHA:2077
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Micrognathia, Absent middle phalanx of 3rd fin...	OMIM:308050
Baraitser-Winter Cerebrofrontofacial Syndrome	Micrognathia, Prominent nose, Long nose, Short neck, Webbed neck, Microcornea, Heterochromia irid...	ORPHA:2995
Tibial Hemimelia	Absent tibia	OMIM:275220
Multiple Pterygium-Malignant Hyperthermia Syndrome	Webbed neck, Downturned corners of mouth, Hyperconvex fingernails, Advanced eruption of teeth, Pr...	ORPHA:2215
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Proximal placement of thumb, Micrognathia, Prominent nose, High, narrow pa...	ORPHA:435638
Ruvalcaba Syndrome	Dental crowding, Proximal placement of thumb, Micromelia, Clinodactyly of the 5th finger, Abnorma...	ORPHA:3121
Melnick-Needles Syndrome	Short humerus, Pes planus, Hypoplastic scapulae, Micrognathia, Coxa valga, Flared metaphysis, Hip...	OMIM:309350
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Beaking of vertebral bodies, Brachydactyly, Depressed nasal bridge, Anteverted nares, Corneal opa...	OMIM:618961
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Small for gestational age, Recurrent fractures, Rocker bottom foot, Micrognathia, ...	ORPHA:453510
Lowry-Maclean Syndrome	Delayed eruption of teeth, Craniosynostosis, Cleft palate, Intrauterine growth retardation, Conve...	OMIM:600252
Peters-Plus Syndrome	Short lingual frenulum, Limited elbow movement, Micrognathia, Hypoplasia of the maxilla, Proximal...	OMIM:261540
Osteogenesis Imperfecta, Type Iii	Frontal bossing, Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multi...	OMIM:259420
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Low anterior hairline, Brachycephaly, Partial duplication o...	OMIM:101400
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Microphthalmia, Iris coloboma	OMIM:611638
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Hypoplastic toenails...	ORPHA:235
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Frontal bossing, Turricephaly, Recurrent fra...	OMIM:616294
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Flat occiput, Short neck, Flexion contracture, Brachycephaly, High palate, Long philtrum, Short s...	OMIM:617452
49,Xxxxy Syndrome	Mandibular prognathia, Short neck, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th ...	ORPHA:96264
Diamond-Blackfan Anemia 6	Failure to thrive, Micrognathia, Cleft upper lip, Short thumb, Cleft palate, Growth delay, Tripha...	OMIM:612561
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, High palat...	OMIM:209885
Chromosome 10Q26 Deletion Syndrome	Congenital hip dislocation, Micrognathia, Prominent nose, Short neck, 2-3 toe cutaneous syndactyl...	OMIM:609625
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Osteoporo...	ORPHA:93351
Achondrogenesis	Frontal bossing, Severe short stature, Anteverted nares, Micromelia, Micrognathia, Abnormal encho...	ORPHA:932
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Frontal bossing, Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of fin...	ORPHA:2787
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Micrognathia, Short neck, Glossoptosis, Vertebral segmentation de...	OMIM:611209
Cerebrofaciothoracic Dysplasia	Wide nose, Thick eyebrow, Short stature, Abnormal hair pattern, Cleft upper lip, Short neck, Syno...	ORPHA:1394
Trisomy 17P	Micrognathia, Prominent nose, Short neck, Flexion contracture, Orofacial cleft, High palate, Clin...	ORPHA:261290
Amelogenesis Imperfecta, Type Iiia	Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta	OMIM:130900
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Bowing of the long bones, Short femur, Fractures of the ...	OMIM:602080
Holzgreve Syndrome	Hand polydactyly, Cleft palate, Cleft upper lip	OMIM:236110
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Osteopenia, Mandibular prognathia, Frontal bossing, Sparse scalp hair, Recurrent fractures, Postn...	ORPHA:2324
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Deep philtrum, Synophrys, Short philtrum, Joint contracture of the 5th finger, Prominent fingerti...	OMIM:620098
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Arthrogryposis, Distal, Type 2A	Joint dislocation, Mandibular prognathia, Dental crowding, Short neck, Knee flexion contracture, ...	OMIM:193700
Mccune-Albright Syndrome	Hyperplasia of the Leydig cells, Macroorchidism, Recurrent fractures, Osteomalacia, Accelerated s...	ORPHA:562
Stickler Syndrome, Type I	Arthropathy, Micrognathia, Osteoarthritis, Bifid uvula, Anteverted nares, Depressed nasal bridge,...	OMIM:108300
De Barsy Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Brachycephaly, Coxa vara, Talip...	ORPHA:2962
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Flat occiput, Short neck, Brachycephaly, High palate, Lo...	ORPHA:505237
Mandibuloacral Dysplasia	Alopecia, Dental crowding, Narrow nose, Micrognathia, Abnormally large globe, Postnatal growth re...	ORPHA:2457
Holoprosencephaly 7	Flat occiput, Synophrys, Hypoplastic nasal septum, Parietal bossing, Iris coloboma, Median cleft ...	OMIM:610828
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Rickets of the lower limbs, Delayed epiphyseal ossif...	OMIM:600785
Joubert Syndrome 37	Frontal bossing, Prominent metopic ridge, Wide nose, Anteverted nares, Short stature, Postaxial p...	OMIM:619185
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617217
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Short neck, Low anterior hairline, Brachycephaly, Downturned corners of mo...	ORPHA:369891
Glass Syndrome	Dental crowding, Anterior tibial bowing, Conical tooth, Micrognathia, Long nose, Oligodontia, Hig...	OMIM:612313
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
48,Xxxy Syndrome	Mandibular prognathia, Short neck, Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th ...	ORPHA:96263
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Hypoplasia of the maxilla, Ve...	ORPHA:87
Craniolenticulosutural Dysplasia	Brittle hair, Hypoplasia of the maxilla, Coarse hair, High palate, Microdontia, Sparse hair, Prem...	ORPHA:50814
H Syndrome	Corneal arcus, Alopecia, Psoriasiform dermatitis, Short stature, Cleft upper lip, Recurrent phary...	ORPHA:168569
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Cataract, Short stature, Abnormality of the dentition, Micrognathia, Cryptorchidism, Thick lower ...	ORPHA:85321
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Failure to thrive in infancy, Overlapping toe,...	OMIM:618975
Amelogenesis Imperfecta	Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t...	ORPHA:88661
Panner Disease	Limited elbow movement, Abnormality of the humerus, Abnormality of upper limb joint, Irregular ar...	ORPHA:97336
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Accelerated skeletal maturation, Generalized os...	OMIM:215045
Vertebral Hypersegmentation And Orofacial Anomalies	Pes planus, Anteverted nares, Supernumerary nipple, Micrognathia, Widow's peak, Submucous cleft h...	OMIM:619122
Osteogenesis Imperfecta, Type Ix	Short lower limbs, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Decreased calvaria...	OMIM:259440
Split hand/foot malformation 1 (SHFM1)	Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Split foot, Cutan...	DECIPHER:46
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Abnormality of the temporomandibular joint, Multiple joint contrac...	ORPHA:536471
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, Orofacial cleft, Downturned corners of mout...	ORPHA:1507
Charge Syndrome	Anophthalmia, Abnormal tibia morphology, Hemivertebrae, Abnormality of bone mineral density, Clin...	ORPHA:138
Thoracomelic Dysplasia	Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Low poster...	ORPHA:1803
Orofaciodigital Syndrome Type 2	Micrognathia, Finger clinodactyly, High palate, Short tibia, Finger syndactyly, Broad hallux, Sho...	ORPHA:2751
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro...	ORPHA:2839
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Abnormal curvature of the vertebral column, Otitis media, Abnormality of the cer...	ORPHA:353281
Holoprosencephaly 9	Anophthalmia, Depressed nasal bridge, Hypoplasia of the premaxilla, Optic nerve hypoplasia, Cleft...	OMIM:610829
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition,...	OMIM:179613
Filippi Syndrome	Underdeveloped nasal alae, 2-4 toe syndactyly, Postnatal growth retardation, Low hanging columell...	OMIM:272440
Dpm1-Cdg	Tented upper lip vermilion, Depressed nasal bridge, Sandal gap, Flat occiput, Micrognathia, Trigo...	ORPHA:79322
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Pes planus, Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Anosmia, Cleft palate...	OMIM:244200
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Kyphoscoliosis, Highly arched eyebrow, Multipl...	OMIM:618644
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Hemivertebrae, Knee...	OMIM:151050
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Short neck, Clinodactyly, Orofacial cleft,...	OMIM:180700
Robinow Syndrome, Autosomal Recessive 2	Micrognathia, Prominent fingertip pads, Anteverted nares, Cleft soft palate, Broad hallux, Short ...	OMIM:618529
White-Sutton Syndrome	Mandibular prognathia, Micrognathia, Short neck, Brachycephaly, Downturned corners of mouth, Shor...	OMIM:616364
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Hypoplastic toenails, Deep philtrum, Abnormal tibia morphology, Synophr...	ORPHA:251014
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Short long bone, Disproportionate short-limb short ...	OMIM:619479
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Frontal bossing, Corneal opacity, Short stature, M...	ORPHA:2788
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Proximal placement of thumb, Short neck, Brachycephaly, Sparse...	OMIM:212066
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Frontal bossing, ...	ORPHA:2484
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short palm, Large iliac wing, Bifid uvula, Cryp...	ORPHA:2588
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Dental crowding, Acroosteolysis of distal phalanges (feet), Micrognathia, Flexion con...	OMIM:248370
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Large posterior fontanelle, Micrognathia, Brachycephaly, Absent eyebrow, Abnormal dental morpholo...	ORPHA:85199
Parietal Foramina 1	Wormian bones, Parietal foramina, Cleft palate, Cleft upper lip	OMIM:168500
6Q25 Microdeletion Syndrome	Short stature, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Wide nasal bridge, Clef...	ORPHA:251056
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio...	OMIM:215140
Acromelic Frontonasal Dysplasia	Median cleft lip, Broad nasal tip, Bifid nasal tip, Cryptorchidism, Large fontanelles, Brachyceph...	ORPHA:1827
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Brittle hair, Dental crowding, Narrow nasal ridge, Micrognathia, Flexion contracture, S...	OMIM:608612
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Femoral bowing, Shor...	OMIM:616723
Fanconi Anemia, Complementation Group J	Postnatal growth retardation, Short thumb, Intrauterine growth retardation	OMIM:609054
Roifman Syndrome	Downturned corners of mouth, Irregular vertebral endplates, Clinodactyly of the 5th finger, Short...	OMIM:616651
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Walker-Warburg Syndrome	Cataract, Corneal opacity, Anophthalmia, Cryptorchidism, Submucous cleft hard palate, Cleft palat...	ORPHA:899
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Short stature, Abnormal hair pattern, Delayed skeletal maturation, N...	ORPHA:1770
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Limited elbow movement, Micrognathia, Proximal placement of thumb, Short neck, Synophrys, Low ant...	OMIM:610759
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Short stature, Talipes...	ORPHA:1908
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance...	ORPHA:949
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Postnatal growth retardation, Humeroradial synosto...	ORPHA:3404
Cockayne Syndrome	Dry hair, Congenital contracture, Lentiglobus, Abnormal dental morphology, Cryptorchidism, Agenes...	ORPHA:191
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Otitis me...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Dental crowding, Micrognathia, Abnormal curvature of the vertebral column, High palate, Otitis me...	ORPHA:353277
Marshall-Smith Syndrome	Failure to thrive, Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis,...	ORPHA:561
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Short stature, Frontal open bite, Delayed closure of the anterior fonta...	OMIM:225410
Thomas Syndrome	Dolichocephaly, Cleft palate, Cleft upper lip	ORPHA:3316
Arthrogryposis, Distal, Type 5D	Congenital hip dislocation, Limited elbow movement, Micrognathia, Short neck, Calcaneovalgus defo...	OMIM:615065
Autosomal Recessive Stickler Syndrome	Epiphyseal dysplasia, Cataract, Short stature, Micrognathia, Cleft palate, Genu valgum, Joint hyp...	ORPHA:250984
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Frontal bossing, Rhizomelia, Short stature, Metaphyseal cupping, Depressed nasa...	OMIM:300863
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Multip...	OMIM:619795
Chromosome 5P13 Duplication Syndrome	Frontal bossing, Turricephaly, Small for gestational age, Craniosynostosis, Long fingers, Bulbous...	OMIM:613174
Orofaciodigital Syndrome I	Dry hair, Lobulated tongue, High palate, Sparse hair, Microretrognathia, Syndactyly, Alopecia, Sh...	OMIM:311200
Stickler Syndrome Type 1	Cataract, Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Platys...	ORPHA:90653
Opitz Gbbb Syndrome	Thin upper lip vermilion, Abnormal nasopharynx morphology, Frontal bossing, Anteverted nares, Cle...	OMIM:300000
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormality of the gingiva, Hemiverteb...	ORPHA:3107
Lujan-Fryns Syndrome	Dental crowding, Camptodactyly of finger, Prominent nasal bridge, Abnormality of the dentition, M...	ORPHA:776
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Short neck, High...	OMIM:309583
Kury-Isidor Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Short neck, Brachycephaly, High palate, ...	OMIM:619762
Faciocardiomelic Syndrome	Osteopenia, Dysharmonic bone age, Anteverted nares, Depressed nasal bridge, Micrognathia, Large f...	OMIM:612731
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Large...	ORPHA:96334
Marshall Syndrome	Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Brachycephaly, High palate, Sparse hair,...	ORPHA:560
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Microcoria, Anophthalmia, Iris coloboma	OMIM:616428
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Low anterior hairline, Microcornea, Hypopl...	OMIM:260660
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Cleft soft palate, Accessory oral frenulum, Supernumerary tooth...	ORPHA:2919
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislo...	ORPHA:536467
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Microgna...	OMIM:618150
Oligodontia	Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ...	ORPHA:99798
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Short stature, Micromelia, Hy...	ORPHA:63446
Mesomelic Dysplasia, Nievergelt Type	Micromelia, Abnormal tibia morphology, Brachycephaly, Clinodactyly of the 5th finger, Abnormality...	ORPHA:2633
Kyphomelic Dysplasia	Bowing of the long bones, Micromelia, Micrognathia, Joint stiffness, Missing ribs, Limitation of ...	ORPHA:1801
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Laterally extended eyebrow, Tented upper lip vermilion, Broad hallux, S...	OMIM:600987
Warburg Micro Syndrome 3	Cataract, Kyphoscoliosis, Micrognathia, Postnatal growth retardation, Flexion contracture, Low an...	OMIM:614222
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Increased intervertebra...	OMIM:224300
Fryns Syndrome	Tented upper lip vermilion, Micrognathia, Short neck, High palate, Clinodactyly of the 5th finger...	ORPHA:2059
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Enlarged joints, Short stature, Lumbar hyperlordosis, Bowing of the legs, Disproportionate short-...	ORPHA:156728
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Sc...	ORPHA:3472
Aymé-Gripp Syndrome	Brachycephaly, Oligodontia, Clinodactyly of the 5th finger, Megalocornea, Prominent metopic ridge...	ORPHA:1272
Cole-Carpenter Syndrome	Delayed eruption of teeth, Frontal bossing, Crumpled long bones, Bowing of the long bones, Turric...	ORPHA:2050
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Micrognathia, Short neck, Knee flexion contracture, Cutaneous finger ...	OMIM:114300
Thanatophoric Dysplasia	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal ...	ORPHA:2655
Lateral Meningocele Syndrome	Dental crowding, Micrognathia, Short neck, Coarse hair, High palate, Long philtrum, Vertebral fus...	OMIM:130720
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard...	ORPHA:168549
Autosomal Recessive Cutis Laxa Type 2A	Pes planus, Persistent open anterior fontanelle, Congenital hip dislocation, Corneal opacity, Del...	ORPHA:357058
Endocrine-Cerebroosteodysplasia	Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, Thick upper lip vermilion, Median ...	OMIM:612651
Fryns Syndrome	Tented upper lip vermilion, Proximal placement of thumb, Large for gestational age, Short neck, P...	OMIM:229850
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Synophrys, Contracture of the proximal interphalangeal joint of th...	OMIM:615485
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Hyperlordosis, Osteolysis, Foot acroosteolysis, Reduced ...	ORPHA:970
Neu-Laxova Syndrome	Osteopenia, Micromelia, Micrognathia, Flexion contracture, Depressed nasal ridge, Pterygium, Bifi...	ORPHA:2671
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Synophrys, Hemivertebrae, Brachycephaly, Coxa vara, Clinodactyly of the 5th finger, Syndactyly, A...	OMIM:614701
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Short neck, High, narrow palate, Synophrys, Pr...	ORPHA:488632
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Micrognathia, Deep philtrum, Low anterior hairline, Brachycephaly, Downturned corners of mouth, B...	ORPHA:404440
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Anteverted nares, Cle...	ORPHA:261236
Diamond-Blackfan Anemia 1	Micrognathia, Short neck, Depressed nasal ridge, Hypoplastic coccygeal vertebrae, High palate, Tr...	OMIM:105650
Chondrodysplasia Punctata 2, X-Linked Dominant	Short neck, Hemivertebrae, Sparse hair, Rhizomelia, Sparse eyebrow, Epiphyseal stippling, Abnorma...	OMIM:302960
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Prominent nose, Lo...	ORPHA:2636
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Mandibular prognathia, Hallux valgus, Swan neck-like deformities of the fingers, Prominent nasal ...	OMIM:619880
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Anophthalmia, Midnasal stenosis, Choanal atresia, Short stature,...	OMIM:147250
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Microcor...	OMIM:268400
Blomstrand Lethal Chondrodysplasia	Micrognathia, Accelerated skeletal maturation, Neonatal short-limb short stature, Distal shorteni...	ORPHA:50945
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Distal Deletion 10Q	Micrognathia, Prominent nose, Hypoplastic toenails, 2-3 toe cutaneous syndactyly, Short metatarsa...	ORPHA:96148
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Intrauter...	ORPHA:86822
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Brachycephaly, Tetraphocomelia, Knee flexion contracture, High palate, ...	OMIM:268300
Hypertrichosis Cubiti	Severe short stature, Rhizomelia, Prominent nasal bridge, Micromelia, Abnormal eyelash morphology...	ORPHA:2220
Williams Syndrome	Osteopenia, Micrognathia, Hypoplastic toenails, Rectal prolapse, Abnormal form of the vertebral b...	ORPHA:904
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Short stat...	ORPHA:1597
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short meta...	OMIM:619636
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Synophrys, Oligodontia, Aplasia of the distal phalanx of the 5th fing...	ORPHA:364577
Hallermann-Streiff Syndrome	Micrognathia, High, narrow palate, Brachycephaly, Abnormality of the fontanelles or cranial sutur...	ORPHA:2108
Fg Syndrome Type 1	Dental crowding, Micrognathia, Prominent nose, Generalized joint laxity, Fused teeth, High palate...	ORPHA:93932
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Accelerated skeletal maturation, Vertebral segmentation defect, Narrow gre...	OMIM:312870
Van Den Ende-Gupta Syndrome	Dental crowding, Glenoid fossa hypoplasia, Sclerocornea, Micrognathia, Hypoplasia of the maxilla,...	OMIM:600920
Al Kaissi Syndrome	Thin upper lip vermilion, Pes planus, Sacral dimple, Macrodontia, Depressed nasal bridge, Short s...	OMIM:617694
Trisomy 20P	Micrognathia, Short neck, Low anterior hairline, Brachycephaly, Abnormal form of the vertebral bo...	ORPHA:261318
Boomerang Dysplasia	Absent radius, Severe short stature, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn...	ORPHA:246
Hypocalcemic Vitamin D-Dependent Rickets	Flat occiput, Irregular, rachitic-like metaphyses, Delayed epiphyseal ossification, Bone pain, Fe...	ORPHA:289157
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Anteverted nares, Rocker bottom...	OMIM:301041
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Microretrognathia, Angulated humerus, Bowing of the long bones, Small for gestational...	OMIM:616229
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Marden-Walker Syndrome	Micrognathia, Short neck, High, narrow palate, Congenital contracture, High palate, Anteverted na...	OMIM:248700
Dystonia-Deafness Syndrome 1	Hypoplastic scapulae, Small for gestational age, Cataract, Femoral retroversion, Cleft upper lip,...	OMIM:607371
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Delayed epiphyseal ossification, Metaphyseal widening, Abnormal v...	ORPHA:93352
Marbach-Rustad Progeroid Syndrome	Midface retrusion, Femur fracture, Short stature, Delayed eruption of primary teeth, Micrognathia...	OMIM:619322
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver...	ORPHA:2769
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Thin upper lip vermilion, Syndactyly, Depressed nasal bridge, Broad na...	OMIM:619736
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Anophthalmia, Cryptorchidism, Microphthalmia, Submucous cleft hard palate, Single naris...	ORPHA:2250
Short Stature-Micrognathia Syndrome	Micrognathia, Accelerated skeletal maturation, Bowing of the legs, Metaphyseal widening, High pal...	OMIM:617164
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Micrognathia, Short neck, Synophrys, Downturned corners of mou...	OMIM:619297
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short stature, Underdevelop...	ORPHA:264200
19P13.12 Microdeletion Syndrome	Short neck, Synophrys, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Generalized hir...	ORPHA:254346
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ...	OMIM:271640
Desbuquois Syndrome	Genu recurvatum, Accelerated skeletal maturation, Short neck, Coxa vara, Clinodactyly of the 5th ...	ORPHA:1425
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
9P13 Microdeletion Syndrome	Microretrognathia, Anteverted nares, Short stature, Highly arched eyebrow, Joint stiffness, Abnor...	ORPHA:324313
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Severe short stature, Hyperlordosis, Hypop...	OMIM:184250
Monosomy 18P	Alopecia, Short stature, Kyphoscoliosis, Micrognathia, Carious teeth, Short neck, Wide nasal brid...	ORPHA:1598
Microphthalmia, Syndromic 5	Joint laxity, Cataract, Anophthalmia, Optic nerve hypoplasia, Short stature, Cryptorchidism, Clef...	OMIM:610125
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastria, Aplastic clavicle, Hiatus her...	ORPHA:2538
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Pes planus, Sparse scalp hair, Depressed nasal bridge, Short stature, Sagittal craniosynostosis, ...	ORPHA:459061
Chromosome 17P13.1 Deletion Syndrome	Proximal placement of thumb, Short neck, High, narrow palate, Synophrys, Low anterior hairline, B...	OMIM:613776
Peters Plus Syndrome	Micromelia, Micrognathia, Peters anomaly, Short neck, Brachycephaly, Webbed neck, Microcornea, Wi...	ORPHA:709
Microphthalmia, Syndromic 6	Anophthalmia, Sclerocornea, Micrognathia, Brachycephaly, Microcornea, High palate, Clinodactyly o...	OMIM:607932
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Premature ovarian insufficiency, Short stature, Camptodactyly of finger, Micromelia, Ulnar deviat...	ORPHA:2928
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Femora...	OMIM:304120
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix	OMIM:245650
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Cataract, Choanal atresia, Hypogonadotropic hypogonadism, Cleft lip, ...	OMIM:603457
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Postaxial polydactyl...	OMIM:619142
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Joint st...	ORPHA:2249
Fibrochondrogenesis	Hypoplastic fingernail, Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Depresse...	ORPHA:2021
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Arthrogryposis multiplex congenita, Non-midline cleft lip, Limitation of joint mobility, Cleft pa...	ORPHA:1484
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Prominent nose, Brachycephaly, Bifid uvula, Joint laxity, Depressed nasal bridge, Short stature, ...	OMIM:300968
Potocki-Shaffer syndrome	Parietal foramina, Delayed cranial suture closure	DECIPHER:34
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Delayed eruption of teeth, Small for gestational age, Short stature, Micrognathia, Postnatal grow...	ORPHA:73272
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Hypoplasia of the ulna, Anteverted nares, Highly arched eyebrow, Microg...	OMIM:619135
Contractural Arachnodactyly, Congenital	Osteopenia, Micrognathia, Short neck, Brachycephaly, Knee flexion contracture, High palate, Wrist...	OMIM:121050
Rothmund-Thomson Syndrome Type 2	Osteopenia, Joint dislocation, Long nose, Patellar hypoplasia, High palate, Microdontia, Sparse h...	ORPHA:221016
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Short stature, Preaxial hand polydactyly, Non-midline cleft lip,...	ORPHA:2549
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Short stature, Rhizomelic arm shortening, Brachydactyly	ORPHA:508542
Brachytelephalangic Chondrodysplasia Punctata	Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Thick...	ORPHA:79345
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Depressed nasal bridge, Wide nose, Cataract, Cleft...	OMIM:242840
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Short stature, Recurrent fractures, Protrusio acetabuli, Kyphoscoliosis...	OMIM:610968
Noonan Syndrome 1	Micrognathia, Short neck, High, narrow palate, High palate, Male infertility, Short stature, Cryp...	OMIM:163950
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Campomelic Dysplasia	Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia,...	OMIM:114290
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Abnormal carp...	ORPHA:85166
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, Anteriorly placed a...	OMIM:619148
Braddock-Carey Syndrome 1	Curly hair, Anteverted nares, Hyperlordosis, Clinodactyly, Pierre-Robin sequence, Small hand, Wid...	OMIM:619980
Ogden Syndrome	Microretrognathia, Frontal bossing, Everted upper lip vermilion, Broad hallux, Underdeveloped nas...	ORPHA:276432
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Coxa vara, Fragile nails, High palate, Microdontia, Spars...	OMIM:278250
Cdags Syndrome	Frontal bossing, Sparse scalp hair, Sparse eyelashes, Delayed cranial suture closure, Sagittal cr...	OMIM:603116
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin...	OMIM:617602
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:129900
Aneurysm-Osteoarthritis Syndrome	Joint laxity, Pes planus, Osteoarthritis of the small joints of the hand, Arachnodactyly, Camptod...	ORPHA:284984
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of th...	OMIM:218600
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Mandibular prognathia, Midface retrusion, Lumbar hyperlordosis, Rhizomelia, Short n...	OMIM:612813
Acrocardiofacial Syndrome	Joint dislocation, Finger syndactyly, Hallux valgus, Toe syndactyly, Camptodactyly of finger, Cle...	ORPHA:2008
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Postnatal growth retardation, ...	ORPHA:93324
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Trigonocephaly 1	Craniosynostosis, High, narrow palate, Synophrys, Wide nasal bridge, Lumbar hemivertebrae, Metopi...	OMIM:190440
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Abnormality of the...	OMIM:617952
3Q29 Microduplication Syndrome	Toe syndactyly, Sandal gap, Cataract, Craniosynostosis, Abnormality of the dentition, Sclerocorne...	ORPHA:251038
Mucopolysaccharidosis, Type Vii	Accelerated skeletal maturation, Short neck, Flexion contracture, Coarse hair, Widely spaced teet...	OMIM:253220
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Abnormal vertebral seg...	ORPHA:90652
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Cholangitis, Micrognathia, Short neck, Short metatarsal, Widely spaced teeth, High pa...	OMIM:266920
Larsen Syndrome	Finger syndactyly, Brachydactyly, Depressed nasal bridge, Short stature, Large joint dislocations...	ORPHA:503
Genitopalatocardiac Syndrome	Micrognathia, Kyphosis, Non-midline cleft lip, Postaxial hand polydactyly, Cryptorchidism, Wide n...	ORPHA:2075
Sanjad-Sakati Syndrome	Intestinal obstruction, Depressed nasal bridge, Abnormal dental enamel morphology, Patchy osteosc...	ORPHA:2323
Aicardi Syndrome	Prominence of the premaxilla, Cataract, Block vertebrae, Anteverted nares, Proximal placement of ...	OMIM:304050
Chromosome 2P16.1-P15 Deletion Syndrome	High, narrow palate, Calcaneovalgus deformity, Brachycephaly, High palate, Depressed nasal bridge...	OMIM:612513
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Short neck, Abnormal hand...	OMIM:200600
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Neu-Laxova Syndrome 1	Micromelia, Swollen lip, Micrognathia, Short neck, Calcaneovalgus deformity, Depressed nasal ridg...	OMIM:256520
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Micrognathia, Accelerated skeletal maturation, Fl...	OMIM:130070
Hypophosphatasia, Infantile	Craniosynostosis, Abnormality of the dentition, Bowing of the legs, Micromelia, Vertebral cleftin...	OMIM:241500
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, Accelerated skeletal maturation, Short neck, H...	ORPHA:373
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, High palate, Microdontia, Sparse hair, Syndactyl...	OMIM:614091
Kagami-Ogata Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Hypoplas...	OMIM:608149
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Hiatus hernia, Cleft upper l...	ORPHA:50
Trisomy 12P	Turricephaly, Thick eyebrow, Short stature, Supernumerary nipple, Micrognathia, Short neck, Delay...	ORPHA:1699
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Flat glenoid fossa...	OMIM:224690
Koolen-De Vries Syndrome	High, narrow palate, Vertebral segmentation defect, Microdontia, Thick nasal alae, Vertebral fusi...	ORPHA:96169
Autosomal Recessive Amelia	Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Amelia involving the upper ...	ORPHA:1027
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Micrognathia, Prominent nose, Depressed nasal ridge, Brachycephaly, Hemive...	OMIM:156200
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, Short neck, Hi...	ORPHA:2789
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Cataract, Anophthalmia, Optic nerve hypoplasia, Sclerocorn...	OMIM:206900
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi...	ORPHA:3035
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Sparse scalp hair, Lower limb asymmetry, Non-midline cleft lip, Absent nasal septal cartilage, Hi...	ORPHA:2003
Craniosynostosis 2	Frontal bossing, Turricephaly, Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Trigon...	OMIM:604757
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Cataract, Severe short stature, Micromelia, Micrognathia, Cryptorchidis...	OMIM:224410
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Sweeney-Cox Syndrome	Flat occiput, Micrognathia, Bilateral cryptorchidism, Low anterior hairline, Brachycephaly, High ...	OMIM:617746
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Flat occiput, Bowing of the legs, Delayed epiphyseal ossification, Bone pain, Femoral bowing, Tib...	OMIM:264700
Occipital Horn Syndrome	Short humerus, Pes planus, Pelvic bone exostoses, Coxa valga, Capitate-hamate fusion, Genu valgum...	OMIM:304150
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Short palm, Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Convex nasal ridge...	OMIM:241410
Eiken Syndrome	Short stature, Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular...	OMIM:600002
2P15P16.1 Microdeletion Syndrome	Brachycephaly, High palate, Prominent metopic ridge, Tapered finger, Sparse eyebrow, Wide nasal b...	ORPHA:261349
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Conical tooth, Micrognathia, Hyperconvex fingernails, Coarse hair, Widely spaced teeth, Clinodact...	ORPHA:1071
Seckel Syndrome 5	11 pairs of ribs, Pes planus, Short stature, Selective tooth agenesis, Prominent nasal bridge, Mi...	OMIM:613823
Vacterl With Hydrocephalus	Absence of the sacrum, Anophthalmia, Micrognathia, Esophageal atresia, Cryptorchidism, Hypoplasia...	ORPHA:3412
Cornelia De Lange Syndrome	Proximal placement of thumb, Micrognathia, Micromelia, Short neck, Synophrys, Low anterior hairli...	ORPHA:199
Satoyoshi Syndrome	Abnormality of the knee, Short stature, Tapered finger, Abnormality of the humerus, Abnormal femu...	ORPHA:3130
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Osteopenia, Mandibular prognathia, Dental crowding, Metaphyseal widening, Knee dislocation, High ...	OMIM:620083
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Sparse hair, Joint contracture, Joint laxity, Short stature, Increased susceptibility...	OMIM:615349
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Fibular aplasia	OMIM:218550
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Short stature, Craniosynostosis, Micrognathia, Cleft palate, Plagiocephaly, Slender long bone, De...	OMIM:618265
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Hypoplasia of...	OMIM:604292
Tenorio Syndrome	Osteopenia, Joint laxity, Mandibular prognathia, Wide nose, Anteverted nares, Thick eyebrow, Recu...	OMIM:616260
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Cleft palate, Orofacial cleft, Triphalangeal thumb, Short mandibular rami,...	OMIM:141400
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Frontal bossing, Cataract, Overlapping toe, Short stature, Dolichocephaly, Sho...	OMIM:618571
Xylt1-Cdg	Joint laxity, Joint dislocation, Pes planus, Short stature, Acne, Accelerated skeletal maturation...	ORPHA:370930
Down Syndrome	Short neck, Depressed nasal ridge, Brachycephaly, Abnormality of the fontanelles or cranial sutur...	ORPHA:870
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodact...	OMIM:210720
Diaphanospondylodysostosis	Absent in utero ossification of vertebral bodies, Micrognathia, Short neck, Depressed nasal ridge...	OMIM:608022
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Developmental cataract, Platybasia, Decreased calvarial ossification...	OMIM:259410
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Abnormality of the ...	OMIM:615398
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Deep p...	OMIM:619143
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Bresek Syndrome	Decreased testicular size, Alopecia, Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidis...	ORPHA:85284
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Prominent nose, Coxa vara, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Mi...	ORPHA:2637
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Short stature, Micrognathia, Cleft upper lip, Cleft palate, Azoospermia, Abnormality of the verte...	OMIM:601076
Desmosterolosis	Frontal bossing, Increased bone mineral density, Failure to thrive, Depressed nasal bridge, Intes...	ORPHA:35107
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Severe short stature,...	OMIM:231070
Mosaic Trisomy 1	Thoracic scoliosis, Hypoplastic thumbnail, Orofacial cleft, Finger clinodactyly, Absent distal in...	ORPHA:1692
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Highly arc...	OMIM:619124
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Frontometaphyseal Dysplasia	Limited elbow movement, Micrognathia, Metaphyseal widening, Short metatarsal, Oligodontia, Spina ...	ORPHA:1826
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars...	OMIM:616788
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Increased body mass index, Congenital hip dislocation, Delayed skeleta...	OMIM:614450
Constricting Bands, Congenital	Syndactyly, Cleft upper lip, Facial cleft, Cleft palate, Hand polydactyly, Talipes equinovarus, S...	OMIM:217100
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Brachycephaly, Palmoplantar hyperkeratosis, High p...	OMIM:619127
Pai Syndrome	Median cleft lip, Depressed nasal bridge, Nasal polyposis, Cleft palate, Abnormal oral frenulum m...	ORPHA:1993
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O...	OMIM:608728
Genitopalatocardiac Syndrome	Micrognathia, Cleft palate, Cleft upper lip	OMIM:231060
Myhre Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac w...	OMIM:139210
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Synophrys, Oligodontia, Aplasia of the distal phalanx o...	OMIM:608670
Cranioectodermal Dysplasia 2	Cholangitis, Micrognathia, Short neck, Fused teeth, High palate, Widely spaced teeth, Microdontia...	OMIM:613610
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Osteopenia, Joint laxity, Micrognathia, Hyperlordosis, Abnormality of hair texture, Synophrys, De...	ORPHA:73223
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A...	ORPHA:2204
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Joint laxity, Anteverted nares, Prominent nasal bridge, Eczema, Highly arched eyebrow, Cryptorchi...	ORPHA:500159
Chromosome 1P36 Deletion Syndrome, Distal	Synophrys, Depressed nasal ridge, Brachycephaly, Orofacial cleft, High palate, Clinodactyly of th...	OMIM:607872
Mosaic Trisomy 8	Micrognathia, Short neck, Vertebral segmentation defect, High palate, Clinodactyly of the 5th fin...	ORPHA:96061
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti...	OMIM:125500
Meckel Syndrome, Type 1	Micrognathia, Short neck, Lobulated tongue, Iris coloboma, Syndactyly, Cleft upper lip, Cryptorch...	OMIM:249000
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Short stature, Tapered finger	OMIM:618367
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Anophthalmia, Sclerocornea, Esophageal atresia, Cryptorchidism, Hemivertebrae, ...	ORPHA:77298
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Knee flexion contracture, Cutane...	OMIM:178110
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Alopecia, Cataract, Short stature, Abnormal eyebrow morpholo...	ORPHA:90153
Fraser Syndrome	Cleft ala nasi, Dental crowding, Anophthalmia, Orofacial cleft, Vertebral segmentation defect, Hi...	ORPHA:2052
Phocomelia, Schinzel Type	Micromelia, Micrognathia, Short neck, High, narrow palate, Abnormal tibia morphology, Foot oligod...	ORPHA:2879
Peroxisome Biogenesis Disorder 2A (Zellweger)	Failure to thrive, Cataract, Turricephaly, Micrognathia, Metatarsus adductus, Brushfield spots, D...	OMIM:214110
Proboscis Lateralis	Anophthalmia, Single naris, Orofacial cleft, Abnormality of the maxillary sinus, Microcornea, Hig...	ORPHA:141099
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Sclerocornea, Micrognathia, Abnormality of the nail, Abnormality of the anus, Abnor...	ORPHA:2556
Ayme-Gripp Syndrome	Mandibular prognathia, Brachycephaly, Depressed nasal bridge, Short stature, Tapered finger, Wide...	OMIM:601088
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Depressed nasal bridge, Equinovarus deformity, Kypho...	OMIM:609128
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Autosomal Dominant Hyper-Ige Syndrome	Osteopenia, Delayed eruption of teeth, Osteomyelitis, Skin rash, Recurrent fractures, Craniosynos...	ORPHA:2314
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Dental crowding, Downturned corners of mouth, Anteverte...	ORPHA:261323
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Joint dislocation, Micrognathia, Coxa vara, Depressed nasal bridge, Osteomalacia, Hia...	ORPHA:1901
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Short stature, Tarsal synostosis, Prominent n...	ORPHA:1307
Williams-Beuren Syndrome	Osteopenia, Rectal prolapse, Flexion contracture, Premature graying of hair, Microdontia, Clinoda...	OMIM:194050
Short Stature And Facioauriculothoracic Malformations	Abnormal odontoid process morphology, Proportionate short stature, Cleft upper lip, Short neck, C...	OMIM:609654
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, High,...	OMIM:616920
Distal Duplication 17Q	Micrognathia, High palate, Short philtrum, Joint laxity, Depressed nasal bridge, Arachnodactyly, ...	ORPHA:3379
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Frontal bossing, Broad long bones, Short...	OMIM:200610
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:95717
Laron Syndrome	Severe short stature, Delayed skeletal maturation, Abnormal joint morphology, Short long bone, Li...	OMIM:262500
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Mandibular prognathia, Midface retrusion, Lumbar hyperlordosis, Rhizomelia, Short n...	ORPHA:171866
Alg9-Cdg	Villous atrophy, Micrognathia, Short neck, Brachycephaly, Narrow greater sciatic notch, Abnormal ...	ORPHA:79328
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Wide anterior fontanel, Preaxial polydactyly, Hypoplastic pu...	OMIM:617925
Frontofacionasal Dysplasia	Cataract, Cleft upper lip, Underdeveloped nasal alae, Absent inner eyelashes, Brachycephaly, Orof...	OMIM:229400
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Mandibular prognathia, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology, Short st...	ORPHA:2916
Weill-Marchesani Syndrome 2	Hypoplasia of the maxilla, Broad skull, Short metatarsal, Brachycephaly, High palate, Broad metac...	OMIM:608328
Keutel Syndrome	Wide nose, Alopecia, Depressed nasal bridge, Short stature, Underdeveloped nasal alae, Recurrent ...	ORPHA:85202
Orofaciodigital Syndrome V	Thin upper lip vermilion, Frontal bossing, Median cleft lip, Aganglionic megacolon, Sandal gap, H...	OMIM:174300
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, Brachycephaly, High palate, Bilateral coxa valga, Bif...	OMIM:615582
Ritscher-Schinzel Syndrome 2	Syndactyly, Broad hallux, Camptodactyly of finger, Intestinal malrotation, Protruding tongue, Ove...	OMIM:300963
Occipital Horn Syndrome	Osteopenia, High, narrow palate, Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac w...	ORPHA:198
Trisomy 10P	Micrognathia, Hemivertebrae, Orofacial cleft, High palate, Abnormal hip joint morphology, Antever...	ORPHA:171929
Cerebrocostomandibular Syndrome	11 pairs of ribs, 10 pairs of ribs, Short humerus, Congenital hip dislocation, Calcaneal epiphyse...	OMIM:117650
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Delayed skeletal maturation, Femoral bowing, Platyspond...	OMIM:619638
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Brachycephaly, Anterio...	ORPHA:1225
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Cole-Carpenter Syndrome 1	Osteopenia, Frontal bossing, Wormian bones, Short stature, Recurrent fractures, Micrognathia, Ver...	OMIM:112240
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Diastem...	OMIM:605282
Meckel Syndrome	Bowing of the long bones, Cataract, Anophthalmia, Aplasia/Hypoplasia of the tongue, Talipes, Micr...	ORPHA:564
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Thanatophoric Dysplasia Type 2	Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Short stature, Micromelia, Kyphosis, L...	ORPHA:93274
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Pes planus, Cataract, Rhizomelia, Anophthalmia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ec...	OMIM:615877
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Lobulated tongue, Short palm, Neonatal death, Hamartoma of tongue...	OMIM:269860
Charge Syndrome	Anophthalmia, Micrognathia, Hemivertebrae, Hand monodactyly, Iris coloboma, Hypoplasia of the uln...	OMIM:214800
Menkes Disease	Joint laxity, Alopecia, Brittle hair, Short stature, Metaphyseal spurs, Metaphyseal widening, Ost...	OMIM:309400
Yunis-Varon Syndrome	Congenital hip dislocation, Flat occiput, Anterior concavity of thoracic vertebrae, Sclerocornea,...	OMIM:216340
Microphthalmia, Syndromic 1	Anophthalmia, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, Microcornea...	OMIM:309800
Gm1-Gangliosidosis, Type Ii	Protruding tongue, Joint stiffness, Coxa valga, Thoracolumbar kyphosis, Gingival overgrowth, Hypo...	OMIM:230600
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Accessory oral frenulum, Micrognathia, Wide ant...	OMIM:619339
Chromosome 19Q13.11 Deletion Syndrome, Distal	Micrognathia, Cutaneous finger syndactyly, Short philtrum, Clinodactyly of the 5th finger, Sparse...	OMIM:613026
Spondyloepiphyseal Dysplasia Congenita	Limited elbow movement, Short neck, Coxa vara, Delayed calcaneal ossification, Bifid uvula, Lumba...	OMIM:183900
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Tapered finger, Postnatal growth retardation, Hip dysplasia, Talipes equinovarus, Clinodactyly of...	OMIM:617219
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Short neck, Tibial bowing, Hypo...	OMIM:269150
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Synophrys, Brachycephaly, Downturned corners of mouth, Coarse hair, High palate,...	OMIM:618268
Weill-Marchesani Syndrome 1	Hypoplasia of the maxilla, Broad skull, Brachycephaly, Broad metacarpals, Lumbar hyperlordosis, D...	OMIM:277600
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited w...	OMIM:617809
Spondyloepimetaphyseal Dysplasia, Krakow Type	Frontal bossing, Ulnar deviation of the wrist, Elbow contracture, Allergic rhinitis, Rhizomelia, ...	OMIM:618162
Musculocontractural Ehlers-Danlos Syndrome	Cervical kyphosis, Generalized joint laxity, High palate, Abnormality of the cervical spine, Micr...	ORPHA:2953
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Flat occiput, Short neck, High, narrow palate, Synophrys, Prominent protruding coccyx...	OMIM:300966
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Microcornea, Short philtr...	ORPHA:464738
Craniosynostosis 6	Turricephaly, Delayed cranial suture closure, Craniosynostosis, Parietal foramina, Low anterior h...	OMIM:616602
Wiedemann-Steiner Syndrome	Accelerated skeletal maturation, Synophrys, Webbed neck, High palate, Clinodactyly of the 5th fin...	ORPHA:319182
Gorlin-Chaudhry-Moss Syndrome	Short stature, Sclerocornea, Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal fo...	ORPHA:2095
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Broad nasal tip, Bifid nasal tip, Wide mouth, Short foot, Growth delay, Median pseudocleft lip, R...	OMIM:619758
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Down-sloping shoulders, Tapered finger, Carious teeth, Dental malocclusion, Wi...	OMIM:615560
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Talipes, Postnatal growth retardation, Cryptorchidism, Abnorm...	ORPHA:531151
9Q33.3Q34.11 Microdeletion Syndrome	Short neck, Brachycephaly, Patellar hypoplasia, Bilateral coxa valga, Prominent metopic ridge, Hi...	ORPHA:495818
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Short stature, Bowing of the legs, Trapezoidal distal femoral condy...	OMIM:307800
Teebi-Shaltout Syndrome	High, narrow palate, Low anterior hairline, Oligodontia, Sparse hair, Prominent palatine ridges, ...	OMIM:272950
Maternal Uniparental Disomy Of Chromosome 6	Eczema, Cleft upper lip, Cleft palate, Hydrocele testis, Slender long bone, Intrauterine growth r...	ORPHA:96181
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Growth delay, Short humerus, Short femur, Polydactyly	ORPHA:17
20Q11.2 Microduplication Syndrome	Tented upper lip vermilion, Brachycephaly, Short palm, Clinodactyly of the 5th finger, Abnormal n...	ORPHA:363659
Caffey Disease	Tibial bowing, Periosteal thickening of long tubular bones, Bowing of the legs	OMIM:114000
Spondylometaphyseal Dysplasia, A4 Type	Severe short stature, Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Short palm	ORPHA:168555
Nijmegen Breakage Syndrome	Conjunctival telangiectasia, Anal stenosis, Sinusitis, Sandal gap, Choanal atresia, Short stature...	OMIM:251260
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Loeys-Dietz Syndrome 3	Osteoarthritis, Knee osteoarthritis, High palate, Bifid uvula, Joint laxity, Arachnodactyly, Eosi...	OMIM:613795
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Hypoplastic iliac wing, Postnatal growth retardation, Disproportionate short-trunk short stature,...	OMIM:313400
Bruck Syndrome	Bowing of the long bones, Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteopor...	ORPHA:2771
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Cleft upper lip, Peters anomaly, Spinal rigidity, Cleft palate, Buphthalmos, Macrogloss...	OMIM:613150
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Micrognathia, Knee flexion contracture, Oligodontia, High palate, Clinodactyly of the 5th finger,...	OMIM:210730
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Delayed eruption of primary teeth, Aplastic clavi...	OMIM:620099
Normosmic Congenital Hypogonadotropic Hypogonadism	Osteopenia, Generalized joint laxity, Male hypogonadism, Depressed nasal bridge, Hypogonadotropic...	ORPHA:432
C Syndrome	Joint dislocation, Micromelia, Micrognathia, Short neck, High palate, Biparietal narrowing, Clino...	ORPHA:1308
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Coxa vara, High palate, Sparse ...	ORPHA:2834
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr...	OMIM:143095
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Micrognathia, Orofacial cleft, Symphalangism affecting the phalanges of the ha...	ORPHA:2990
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Nasal polyposis, Median cleft lip, Bifid uvula, High palate, Iris coloboma	OMIM:155145
Meier-Gorlin Syndrome 7	Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Copper beaten skull, H...	OMIM:617063
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Flat occiput, Short stature, Cleft upper lip, Short neck, Long finger...	OMIM:614294
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Severe periodontitis, Deep philtrum, Depressed nasal ridge, Low anterior h...	ORPHA:99843
Silver-Russell Syndrome	Dental crowding, Failure to thrive in infancy, Cachexia, Micrognathia, Sandal gap, Lower limb asy...	ORPHA:813
Hartsfield Syndrome	Syndactyly, Wide nose, Median cleft lip, Craniosynostosis, Cleft upper lip, Cryptorchidism, Cleft...	OMIM:615465
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Sclerocornea, Short neck, Talipes calcaneovalgus, Abno...	ORPHA:818
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Micrognathia, Prominent nose, Short neck, Synophrys, Brachycephaly, Widely...	OMIM:612474
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Short stature, Delayed closure of the anterior font...	ORPHA:357074
Spondyloepiphyseal Dysplasia, Kimberley Type	Proportionate short stature, Micromelia, Osteoarthritis, Platyspondyly, Abnormal epiphysis morpho...	ORPHA:93283
Campomelic Dysplasia	Micrognathia, Short neck, Femoral bowing, Tibial bowing, Hypoplastic inferior ilia, Poorly ossifi...	ORPHA:140
Monosomy 9P	Proximal placement of thumb, Micrognathia, Short neck, Synophrys, Brachycephaly, High palate, Lon...	ORPHA:261112
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Micrognathia, Shor...	ORPHA:233
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Prominen...	OMIM:614886
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Infantile Systemic Hyalinosis	Osteopenia, Short palm, Severe short stature, Abnormal dental morphology, Recurrent fractures, Os...	ORPHA:2176
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft lip, Anosmia, Osteoporosis, Cleft palate, Bifid nose, Hyposm...	OMIM:614838
Silver-Russell Syndrome 1	Syndactyly, Frontal bossing, Small for gestational age, Micrognathia, Abnormal foot morphology, D...	OMIM:180860
Kid Syndrome	Angular cheilitis, Equinus calcaneus, Posterior blepharitis, Scarring alopecia of scalp, Gingivit...	ORPHA:477
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Prader-Willi Syndrome Due To Translocation	Flat occiput, Micrognathia, Prominent nose, Short neck, Clinodactyly, Downturned corners of mouth...	ORPHA:177907
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Elbow d...	ORPHA:968
Coffin-Siris Syndrome 12	Micrognathia, Synophrys, Low anterior hairline, High palate, Joint laxity, Anteverted nares, Depr...	OMIM:619325
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Short stature, Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Reduce...	OMIM:166220
Image Syndrome	Metaphyseal dysplasia, Frontal bossing, Depressed nasal bridge, Micromelia, Cryptorchidism, Hypog...	ORPHA:85173
Glutamine Deficiency, Congenital	Anteverted nares, Depressed nasal bridge, Micromelia, Flexion contracture, Wide nasal bridge, Thi...	OMIM:610015
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Micrognathia, Dental malocclusion, Small nail, Camptodactyly, Malar flattening, Joint contracture...	OMIM:608257
Osteogenesis Imperfecta, Type Vii	Osteopenia, Wide cranial sutures, Crumpled long bones, Rhizomelia, Recurrent fractures, Protrusio...	OMIM:610682
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Pl...	OMIM:601356
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Absent fingernail, Short palm, Clinodactyly of the 5th finger, Branchial fis...	ORPHA:261330
Lymphedema-Distichiasis Syndrome	Micrognathia, Cleft upper lip, Kyphosis, Yellow nails, Cleft palate, Distichiasis, Conjunctivitis...	OMIM:153400
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodi...	OMIM:600972
Schinzel-Giedion Syndrome	Micrognathia, Short neck, Abnormality of the gingiva, Tibial bowing, Anteriorly placed anus, Shor...	ORPHA:798
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Hypoplastic toenails, Conical incisor, Microdontia, ...	ORPHA:289
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Frontal bossing, Depressed nasal bridge, Choanal atresia, Arachnodactyly, Rocker bottom foot, Wid...	OMIM:207410
Familial Calcium Pyrophosphate Deposition	Calcification of cartilage	ORPHA:1416
Diffuse Gastric And Lobular Breast Cancer Syndrome	Stomach cancer, Atrophic gastritis, Cleft palate, Cleft upper lip	OMIM:137215
Contractures-Developmental Delay-Pierre Robin Syndrome	Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Micrognathia, Underdeveloped nasal alae...	ORPHA:436003
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Frontal bossing, Severe short stature, Rhizomelia, Depressed nasal bridge, Lumbar hyperlordosis, ...	OMIM:616482
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Seborrheic dermatitis, Limitation of joint mobility, Osteoporosis, Clubb...	OMIM:259100
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora...	OMIM:204700
Naxos Disease	Sparse scalp hair, Curly hair, Abnormality of hair texture, Cleft upper lip, Palmoplantar keratod...	ORPHA:34217
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Osteopenia, Congenital hip dislocation, Prominent nose, Brachycephaly, Abnormal periodontium morp...	ORPHA:480880
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Clinodactyly, Flexion contracture, Brachycephaly, Femoral bowing, Anteriorly...	ORPHA:95699
Hennekam-Beemer Syndrome	Wide nose, Short stature, Camptodactyly of finger, Pneumonia, Micrognathia, Long nose, Lower limb...	ORPHA:2135
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Thick lower lip verm...	OMIM:619103
Doors Syndrome	Short lingual frenulum, Abnormal finger morphology, Brachycephaly, Hemivertebrae, Low anterior ha...	ORPHA:79500
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Micrognathia, Hypoplastic toenails, Synophrys, Downturned corners of mouth, Glossoptosis, High pa...	ORPHA:444077
Carey-Fineman-Ziter Syndrome 1	Micrognathia, Flexion contracture, Glossoptosis, High palate, Anteverted nares, Depressed nasal b...	OMIM:254940
Crouzon Syndrome	Mandibular prognathia, Frontal bossing, Abnormality of the cervical spine, Dental crowding, Sagit...	OMIM:123500
Martin-Probst Syndrome	Short stature, Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Wide...	OMIM:300519
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Failure to thrive, Cataract, Anteverted nare...	OMIM:247200
Chromosome 14Q11-Q22 Deletion Syndrome	Prominent metopic ridge, Depressed nasal bridge, Unilateral cryptorchidism, Proportionate short s...	OMIM:613457
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Micrognat...	OMIM:617866
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Brachycephaly, Finger clinodactyly, Megalocornea, Depressed nasal bridge, Tapered finger, Cryptor...	OMIM:601353
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Cataract, Corneal opacity, Optic nerve hypoplasia, Micrognathia, Cleft upper lip, Cryptorchidism,...	OMIM:236670
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Broad hallux, Broad nasal tip, ...	OMIM:614749
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Cataract, Recurrent fractures, Micromelia, Cryptorchidism, Joint hyperflexibility, Decreased calv...	ORPHA:2772
Monosomy 22Q13.3	Sacral dimple, Dental crowding, Recurrent skin infections, Accelerated skeletal maturation, Hypop...	ORPHA:48652
Coffin-Siris Syndrome	Clinodactyly, Low anterior hairline, Aspiration pneumonia, Thick nasal alae, Joint laxity, Anteve...	ORPHA:1465
Fontaine Progeroid Syndrome	Mandibular prognathia, Micrognathia, High, narrow palate, Synophrys, Low anterior hairline, Brach...	OMIM:612289
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Wide nose, Cataract, Anteverted nares, Anophthalmia, Severe short stature, Abnormal...	ORPHA:2526
Diprosopus	Non-midline cleft lip, Cleft palate, Abnormality of the nose	ORPHA:1681
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Micrognathia, Deep philtrum, Brachycephaly, Coarse hair, High palate, Clinodactyly of t...	ORPHA:1974
Osteogenesis Imperfecta, Type Xxi	Pes planus, Recurrent fractures, Bowing of the legs, Coxa valga, Osteoporosis, Coxa vara, Platysp...	OMIM:619131
Coffin-Siris Syndrome 1	Dry hair, Conical tooth, Brachycephaly, Prominent interphalangeal joints, Short philtrum, High pa...	OMIM:135900
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Thick eyebrow, Symblepharon, Broad nasal tip, Short neck, Delayed skeletal maturation...	ORPHA:488434
Multiple Pterygium Syndrome, Lethal Type	Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia...	OMIM:253290
Sifrim-Hitz-Weiss Syndrome	Short stature, Hypogonadotropic hypogonadism, Trigonocephaly, Tapered finger, Cryptorchidism, Fla...	OMIM:617159
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Mesomelia, Brachydactyly	OMIM:611263
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Short stature, Sparse eyelashes, Bifid nasal tip, Sparse eyebrow, Unila...	OMIM:618874
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Megalocornea, Hypoplastic ischia, Micrognathia, Bowing of the legs, Abno...	ORPHA:313855
Meckel Syndrome, Type 5	Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial fo...	OMIM:611561
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, Short neck, High, narrow palate, Deep philtrum, Low anteri...	OMIM:619950
D-Bifunctional Protein Deficiency	Osteopenia, Frontal bossing, Failure to thrive, Depressed nasal bridge, Micrognathia, Dolichoceph...	OMIM:261515
Vacterl/Vater Association	Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Non-midlin...	ORPHA:887
Amelogenesis Imperfecta, Type Ic	Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati...	OMIM:204650
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Low anterior hair...	OMIM:617137
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93259
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft lip, Ectopic anus, Aplasia/Hypoplasia of the radius, Cleft palate	ORPHA:2476
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Micrognathia, Split hand, Hypopl...	ORPHA:958
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Unde...	OMIM:614230
Autosomal Recessive Spondylocostal Dysostosis	Finger syndactyly, Abnormal intervertebral disk morphology, Anteverted nares, Camptodactyly of fi...	ORPHA:2311
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena...	OMIM:616221
Crane-Heise Syndrome	Finger syndactyly, Abnormally ossified vertebrae, Hypoplastic scapulae, Anteverted nares, Depress...	ORPHA:1512
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptib...	OMIM:166200
Astley-Kendall Dysplasia	Epiphyseal stippling, Disproportionate short-limb short stature, Micromelia	ORPHA:85175
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B	Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Absent phalangeal c...	OMIM:618469
Schneckenbecken Dysplasia	Micromelia, Accelerated skeletal maturation, Short neck, Hypoplastic toenails, Abnormal form of t...	ORPHA:3144
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Sandal gap, Micromelia, Short stature, Postnatal growth retardation, Sh...	OMIM:614800
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Thoracic scoliosis, Bilateral cleft lip, Short neck	OMIM:616994
Microcephalic Primordial Dwarfism, Dauber Type	Short stature, Prominent nose, Delayed skeletal maturation, Abnormal carpal morphology, Obesity, ...	ORPHA:319675
Nijmegen Breakage Syndrome	Abnormal hair quantity, Anal stenosis, Depressed nasal bridge, Prominent nasal bridge, Cachexia, ...	ORPHA:647
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Sclerotic cranial sutures, Abnormal hand morphology, Osteolysis involvin...	ORPHA:371428
Primrose Syndrome	Hypoplasia of the maxilla, Bilateral cryptorchidism, Synophrys, Flexion contracture, Brachycephal...	OMIM:259050
Arterial Tortuosity Syndrome	Coxa vara, Clinodactyly of the 5th finger, Keratoconus, Arachnodactyly, Hiatus hernia, Joint hype...	ORPHA:3342
Bruck Syndrome 2	Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu...	OMIM:609220
Microphthalmia, Syndromic 9	Anophthalmia, Short stature, Severe short stature, Micrognathia, Cryptorchidism, Bilateral microp...	OMIM:601186
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Abnormality of the dentition, Cleft upper lip, Hypogonadism, Hypoplastic nipples, Small nail, Spa...	OMIM:273400
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, Brachycephaly, Microcornea, High palate, Abnormal an...	OMIM:601776
Kbg Syndrome	Tented upper lip vermilion, Short neck, Synophrys, Low anterior hairline, Brachycephaly, Widely-s...	OMIM:148050
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Anteverted nares, Micrognathia, Postnatal growth retardation, Metaphyseal widening, Large fontane...	ORPHA:73230
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Dental crowding, Synophrys, Brachycephaly, High palate, Short philtrum, Lo...	ORPHA:3063
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Frontal bossing, Anteverted nares, Depressed nasal bridge, Short stature, Macroglossia, Severe po...	OMIM:613038
Frontorhiny	Cataract, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of the maxilla, Widow's peak,...	ORPHA:391474
Spondyloepimetaphyseal Dysplasia, X-Linked	Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Radial deviation...	OMIM:300106
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Cataract, Large for gestational ag...	ORPHA:77301
Chime Syndrome	Depressed nasal ridge, Brachycephaly, Short philtrum, Short palm, Microdontia, Sparse hair, Abnor...	ORPHA:3474
Pitt-Hopkins Syndrome	Short neck, Short metatarsal, Narrow foot, Finger clinodactyly, Short philtrum, Anteverted nares,...	ORPHA:2896
Osteopetrosis, Autosomal Recessive 3	Short stature, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis, Osteopetrosis	OMIM:259730
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Short metatarsal, Narrow foot, Tibial bowing, Tarsometatarsal synostosi...	OMIM:600383
Dubowitz Syndrome	Micrognathia, Hypoplasia of the iris, High palate, Otitis media, Clinodactyly of the 5th finger, ...	OMIM:223370
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Holoprosencephaly 1	Short stature, Proboscis, Facial cleft, Aplasia of the nose, Microphthalmia, Midface retrusion, M...	OMIM:236100
Schisis Association	Small for gestational age, Micromelia, Tracheoesophageal fistula, Cleft palate, Unilateral cleft ...	ORPHA:63862
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Smooth philtrum, 11 pairs of ribs, Frontal bossing, Cataract, Depressed nasal bridge, Craniosynos...	OMIM:620005
3Mc Syndrome	Craniosynostosis, Hyperlordosis, Abnormal nasal morphology, Postnatal growth retardation, Highly ...	ORPHA:293843
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Synophrys, Microcornea, Short philtrum, Joint contracture of the 5th finger, Prominen...	ORPHA:363611
Amelogenesis Imperfecta, Type Iiic	Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo...	OMIM:612529
Meier-Gorlin Syndrome 6	Depressed nasal ridge, Microretrognathia, Anteverted nares, Depressed nasal bridge, Cryptorchidis...	OMIM:616835
Coffin-Siris Syndrome 11	Frontal bossing, Prominent metopic ridge, Depressed nasal bridge, Cleft soft palate, Esophageal a...	OMIM:618779
Mend Syndrome	Micrognathia, High palate, Abnormal nasal bridge morphology, Broad hallux, Short stature, Asymmet...	ORPHA:401973
Alobar Holoprosencephaly	Median cleft lip, Short stature, Proboscis, Flexion contracture, Hip dislocation, Depressed nasal...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Median cleft lip, Short stature, Proboscis, Flexion contracture, Hip dislocation, Depressed nasal...	ORPHA:93926
Lobar Holoprosencephaly	Median cleft lip, Short stature, Proboscis, Flexion contracture, Hip dislocation, Depressed nasal...	ORPHA:93924
Semilobar Holoprosencephaly	Median cleft lip, Short stature, Proboscis, Flexion contracture, Hip dislocation, Depressed nasal...	ORPHA:220386
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Dental crowding, Micrognathia, High, narrow palate, Downturned corners of mouth, Clinodactyly of ...	ORPHA:96182
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Micrognathia, Flexion contracture, Brachycephaly, Oligodontia, High palate, Short philtrum, Depre...	OMIM:309590
Lymphedema-Distichiasis Syndrome	Cataract, Recurrent skin infections, Cleft upper lip, Corneal erosion, Cleft palate, Tubulointers...	ORPHA:33001
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Wide nose, Short stature, Choanal atresia, Esophageal atresia, Submucous cleft hard palate, Trach...	OMIM:619227
Branchioskeletogenital Syndrome	Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb peromelia, Synophrys, Br...	ORPHA:1299
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Micro...	ORPHA:570
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Short neck, Synophrys, Low anterior hairline, Brachycephaly, Irregular vertebral endplates, Poste...	OMIM:610442
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, High palate, Fo...	OMIM:276820
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius, Cleft palate, Cleft upper lip	OMIM:179400
Curry-Jones Syndrome	Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Unicoronal synosto...	OMIM:601707
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Depressed nasal bridge,...	ORPHA:2062
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Short stature, Micrognathia, Elbow dislocation, Hypoplasia of the maxill...	OMIM:613805
Floating-Harbor Syndrome	Prominent nose, Short middle phalanx of the 2nd finger, Short neck, Downturned corners of mouth, ...	OMIM:136140
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:95716
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Anteverted nares, Ta...	ORPHA:46059
Kabuki Syndrome	Hemivertebrae, Abnormal form of the vertebral bodies, Orofacial cleft, Microcornea, High palate, ...	ORPHA:2322
Dihydropyrimidine Dehydrogenase Deficiency	Delayed eruption of teeth, Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Microm...	ORPHA:1675
Campomelia, Cumming Type	Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Cleft palate, Clubbing of to...	ORPHA:1318
Stüve-Wiedemann Syndrome	Osteopenia, Micromelia, Metaphyseal widening, Flexion contracture, Knee flexion contracture, Smoo...	ORPHA:3206
Ogden Syndrome	Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Short neck, Deep philtrum, ...	OMIM:300855
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Os odontoideum, Corneal opacity, Postnatal growth retardation, Hip disl...	OMIM:616603
Microphthalmia, Syndromic 11	Microphthalmia, Cleft palate, Cleft upper lip	OMIM:614402
Focal Facial Dermal Dysplasia Type Iv	Cleft palate, Cleft upper lip	ORPHA:398189
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Median cleft lip, Cleft palate, Abnormal morphology of the radius	ORPHA:2165
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Bowing of the long bones, Short stature, Metaphyseal sclerosis, Postnatal growth reta...	OMIM:612199
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Short neck, Deep philtrum, Finger joint hypermobility, Sparse hair, Long philtrum, Joint laxity, ...	OMIM:613563
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Delayed skeletal maturation, Pa...	OMIM:617604
Coxoauricular Syndrome	Short stature, Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral densi...	ORPHA:1508
Cog1-Cdg	Osteopenia, Irregularity of vertebral bodies, Micrognathia, Short neck, Vertebral segmentation de...	ORPHA:263508
Autosomal Dominant Kenny-Caffey Syndrome	Decreased testicular size, Stenosis of the medullary cavity of the long bones, Short stature, Per...	ORPHA:93325
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Talipes, Flexion contracture, Limb undergrowth, Intrauterine growth re...	ORPHA:79243
Schimmelpenning-Feuerstein-Mims Syndrome	Osteopenia, Abnormality of dental color, Alopecia, Corneal opacity, Recurrent fractures, Short st...	OMIM:163200
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Cataract, Short stature, Femoral retroversion, Micromelia, Kyphosis, Orofac...	ORPHA:79107
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Intestinal malro...	ORPHA:93260
Short Stature, Microcephaly, And Endocrine Dysfunction	Cataract, Short stature, Prominent nasal bridge, Broad nasal tip, Long nose, Cryptorchidism, Clin...	OMIM:616541
Amelogenesis Imperfecta, Type Ie	Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe...	OMIM:301200
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Short stature, Bowing of the legs, Delayed epiphyse...	OMIM:300554
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Cleft upper lip, Cryptorchidism, Postaxial hand polydactyly, Hemivertebrae, 2-3...	OMIM:264480
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Depressed nasal brid...	OMIM:275210
Holoprosencephaly 4	Median cleft lip, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nasal tip, Med...	OMIM:142946
Brittle Cornea Syndrome	Hallux valgus, Pes planus, Arachnodactyly, Corneal dystrophy, Abnormality of the dentition, Corne...	ORPHA:90354
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Dental crowding, Synophrys, Low anterior hairline, Downturned corners of mouth, Short philtrum, W...	OMIM:301044
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Synophrys, Cholecystitis, Broad metacarpals, Depressed nasal bridge, Tapered finger, Hyperlordosi...	OMIM:301066
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Thanatophoric Dysplasia, Type Ii	Frontal bossing, Cloverleaf skull, Small abnormally formed scapulae, Micromelia, Hypoplastic ilia...	OMIM:187601
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Micromelia, Hypoplastic ilia, Dolichoc...	OMIM:617895
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Synophrys, Congenital contracture, Prominent palatine ridges, Pr...	ORPHA:97297
Radio-Renal Syndrome	Severe short stature, Depressed nasal bridge, Micromelia, Micrognathia, Short neck, High, narrow ...	ORPHA:3015
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Short stature, Broad nasal tip, Short neck, Cleft lip, Kyphosis, Hemivert...	OMIM:618223
Okamoto Syndrome	Tented upper lip vermilion, Abnormally large globe, Downturned corners of mouth, Exaggerated medi...	ORPHA:2729
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Dental crowding, Short neck, Rectal prolapse, Short metatarsal, Brachycephaly, High palate, Spars...	OMIM:617157
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Large for gestational age, Brachycephaly, Palmoplantar hyperkeratosis, Short philtrum, Widely spa...	OMIM:280000
Ear-Patella-Short Stature Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly of the 5th finger, Bif...	ORPHA:2554
Ring Chromosome 7 Syndrome	Mandibular prognathia, Low anterior hairline, Brachycephaly, Short philtrum, Clinodactyly of the ...	ORPHA:1449
Khan-Khan-Katsanis Syndrome	Frontal bossing, Sacral dimple, Tented upper lip vermilion, Short stature, Delayed closure of the...	OMIM:618460
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Tarp Syndrome	Micrognathia, Glossoptosis, Finger syndactyly, Anteverted nares, Cryptorchidism, Wide nasal bridg...	ORPHA:2886
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Reduced bone mineral density, High palate, Triphalangeal...	ORPHA:84
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Median cleft lip, Depressed nasal bridge, Short stature, Accessory oral frenulum, Postaxial polyd...	OMIM:617088
Craniofacial Microsomia 1	Anophthalmia, Block vertebrae, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Partial ...	OMIM:164210
Renpenning Syndrome 1	Mandibular prognathia, Brittle hair, Micrognathia, Brachycephaly, Narrow foot, High palate, Short...	OMIM:309500
Popliteal Pterygium Syndrome	Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal ptery...	OMIM:119500
Arboleda-Tham Syndrome	Mandibular prognathia, Bilateral cryptorchidism, Downturned corners of mouth, Short philtrum, Con...	OMIM:616268
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Wide nose, Short lingual frenulum, Abnormal fingernail morphology, Craniosynostosis, ...	ORPHA:1521
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Chronic gastritis, Mandibular prognathia, Mild postnatal growth retardation, Microgna...	OMIM:150230
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Alopecia, Corneal opacity, Abnormal eyelash morphology, Abnormal carti...	ORPHA:2396
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Epiphyseal dysplasia, Short stature, Metatarsus adductus, Delayed skele...	OMIM:611962
Culler-Jones Syndrome	Short stature, Postaxial polydactyly, Cleft upper lip, Cryptorchidism, Cleft palate, Hypogonadism...	OMIM:615849
Distal Deletion 15Q	Flat occiput, Micrognathia, Generalized joint laxity, 2-3 toe cutaneous syndactyly, Finger clinod...	ORPHA:1596
Coffin-Siris Syndrome 4	Prominent interphalangeal joints, Short philtrum, Thick nasal alae, Anteverted nares, Depressed n...	OMIM:614609
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Short neck, Clinodactyly of the 5th finger,...	ORPHA:264450
Alkaptonuria	Joint dislocation, Joint stiffness, Cartilage destruction, Abnormality of the nose, Osteoarthriti...	ORPHA:56
Mullegama-Klein-Martinez Syndrome	Micrognathia, Prominent nose, Low anterior hairline, Short philtrum, Clinodactyly of the 5th fing...	OMIM:301022
Jeune Syndrome	Toe syndactyly, Short stature, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly...	ORPHA:474
46,Xy Sex Reversal 4	Distal symphalangism, Anteverted nares, Hypergonadotropic hypogonadism, Micrognathia, Prominent n...	OMIM:154230
1P36 Deletion Syndrome	Depressed nasal ridge, Brachycephaly, Clinodactyly of the 5th finger, Generalized hirsutism, Abno...	ORPHA:1606
Adult-Onset Still Disease	Pericarditis, Skin rash, Cartilage destruction, Recurrent pharyngitis, Myocarditis, Hepatitis, Ar...	ORPHA:829
Moderate Hemophilia A	Arthropathy, Hip contracture, Cartilage destruction, Limitation of joint mobility, Synovitis, Joi...	ORPHA:169805
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Marfan Syndrome	Osteopenia, Dental crowding, Limited elbow movement, Micrognathia, High, narrow palate, Increased...	ORPHA:558
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Short stature, Early ossification of capital femoral epiphyses, Cone-shap...	OMIM:208500
Smith-Lemli-Opitz Syndrome	Dental crowding, Proximal placement of thumb, Micrognathia, Micromelia, 2-3 toe cutaneous syndact...	OMIM:270400
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Edema of the dorsum of feet, Micrognathia...	OMIM:601803
Cherubism	Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl...	OMIM:118400
Matthew-Wood Syndrome	Anophthalmia, Cryptorchidism, Duodenal stenosis, Microphthalmia, Failure to thrive, Intrauterine ...	ORPHA:2470
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Frontal bossing, Arachnodactyly, Micrognathia, Thin calvarium, Short nose, Midface retrusion, Del...	ORPHA:1129
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa...	OMIM:609465
Keppen-Lubinsky Syndrome	Narrow nasal bridge, Tented upper lip vermilion, Micrognathia, Underdeveloped nasal alae, Abnorma...	ORPHA:435628
White-Kernohan Syndrome	Tented upper lip vermilion, Synophrys, Broad medial eyebrow, Anteriorly placed anus, Joint laxity...	OMIM:619426
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Micrognathia, Short neck, High, narrow palate, Hypoplastic toenails, Reduced bone min...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Hypoplastic toenails, Reduced bone min...	ORPHA:99228
Monosomy X	Osteopenia, Micrognathia, Short neck, High, narrow palate, Hypoplastic toenails, Reduced bone min...	ORPHA:99226
Turner Syndrome	Osteopenia, Micrognathia, Short neck, High, narrow palate, Hypoplastic toenails, Reduced bone min...	ORPHA:881
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Smooth philtrum, Frontal bossing, Overlapping toe, Highly arched eyebrow, Accelerated skeletal ma...	OMIM:618653
Kagami-Ogata Syndrome	Pursed lips, Frontal bossing, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Large for...	ORPHA:254519
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Menkes Disease	Bowing of the long bones, Osteomyelitis, Hypopigmentation of hair, Tarsal synostosis, Recurrent f...	ORPHA:565
Menke-Hennekam Syndrome 1	Micrognathia, Deep philtrum, Flexion contracture, Depressed nasal ridge, Cutaneous syndactyly of ...	OMIM:618332
Nievergelt Syndrome	Tarsal synostosis, Radial head subluxation, Genu valgum, Radioulnar synostosis, Mesomelic short s...	OMIM:163400
Reactive Arthritis	Pericarditis, Osteomyelitis, Joint stiffness, Cartilage destruction, Pustule, Enthesitis, Weight ...	ORPHA:29207
Congenital Varicella Syndrome	Microphthalmia, Cataract, Micromelia, Intrauterine growth retardation	ORPHA:291
Tetraamelia Syndrome 1	Cataract, Choanal atresia, Micrognathia, Cleft upper lip, Single naris, Cleft palate, Hypoplastic...	OMIM:273395
Manitoba Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Broad nasal tip, Bifid nasal tip, Anteriorly placed anus, Microphtha...	OMIM:248450
Oculotrichoanal Syndrome	Anal stenosis, Anophthalmia, Abnormal hair pattern, Bifid nasal tip, Anteriorly placed anus, Micr...	ORPHA:2717
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Micrognathia, Submucous cleft ha...	OMIM:301043
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal...	ORPHA:3186
Acrofacial Dysostosis, Cincinnati Type	Short stature, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bo...	OMIM:616462
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Xerostomia, Orofacial cleft, Coarse...	ORPHA:1896
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, Short neck, High, narrow palate, Congenital contracture, High pa...	OMIM:208150
Tetrasomy 9P	Joint dislocation, Myositis, Dental crowding, Micrognathia, Short neck, Downturned corners of mou...	ORPHA:3310
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Micromelia, Short neck, Generalized hypertrichosis, Long philtrum, Short nose, ...	ORPHA:50810
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Micrognathia, Coarse hair, Choanal stenosis, Arachnodactyly, Cryptorchidism, Wide nasal bridge, F...	ORPHA:83617
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, ...	OMIM:618021
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Cataract, Depressed nasal bridge, Short stature, Micrognathia, Cryptorchid...	ORPHA:85276
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Small for gestational age, Velopharyngeal insufficiency, Non-mi...	ORPHA:199302
Pentalogy Of Cantrell	Talipes, Non-midline cleft lip, Split hand, Abnormal tibia morphology, Cleft palate, Orofacial cl...	ORPHA:1335
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Pituitary dwarfism, Depressed nasal bridge, Optic nerve hypoplasia, H...	ORPHA:226307
Osteogenesis Imperfecta, Type Xvii	Short stature, Bowed humerus, Hip dislocation, Thin long bone diaphyses, Thin metacarpal cortices	OMIM:616507
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Severe short stature, Micromelia, Increased skull ossificatio...	ORPHA:1422
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Depressed nasal bridge, Delayed proximal femoral epiphyseal ossificat...	ORPHA:90674
Slc39A8-Cdg	Osteopenia, Failure to thrive in infancy, Short stature, Craniosynostosis, Elbow flexion contract...	ORPHA:468699
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Calcification of the auricular cartilage, Cataract, Short stature, Bilateral cry...	ORPHA:3042
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Rieger anomaly, Taper...	ORPHA:521445
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Cleft lip, Clinodactyly, Kyphosis, Crypto...	ORPHA:1724
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Structural foot deformity, Clinodactyly of the 5th finger, Abnormali...	ORPHA:464306
Hydrolethalus Syndrome 1	Median cleft lip, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplicatio...	OMIM:236680
Renal Agenesis, Bilateral	Non-midline cleft lip, Abnormal sacrum morphology, Depressed nasal ridge, Tracheoesophageal fistu...	ORPHA:1848
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Corneal opacity, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Apla...	ORPHA:1765
Immunodeficiency 49	Natal tooth, Psoriasiform dermatitis, Micrognathia, Short philtrum, Wormian bones, Hirsutism	OMIM:617237
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Anterior open-bite malocclusion, Hashimoto thyroiditis	ORPHA:83601
Faundes-Banka Syndrome	Thin upper lip vermilion, Pes planus, Frontal bossing, Broad eyebrow, Sparse scalp hair, Microgna...	OMIM:619376
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hyperlordosis, Kyphosis, Hip ...	OMIM:617821
Kabuki Syndrome 1	Joint dislocation, Congenital hip dislocation, Micrognathia, High palate, Prominent fingertip pad...	OMIM:147920
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Flat occiput, Sacral dimple, Preaxial hand polydactyly, ...	ORPHA:2211
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract, Micromelia	OMIM:273680
Restrictive Dermopathy	Osteopenia, Multiple joint contractures, Micrognathia, Structural foot deformity, Sparse hair, De...	ORPHA:1662
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Osteoarthritis, Abnormality of the gingiva, Gingivitis, Microdontia, Abnormali...	ORPHA:285
Adams-Oliver Syndrome 1	Alopecia, Toe syndactyly, Supernumerary nipple, Cleft upper lip, Cleft palate, Talipes equinovaru...	OMIM:100300
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Porphyria Due To Ala Dehydratase Deficiency	Abnormal fear-induced behavior, Agitation, Restlessness, Depression	ORPHA:100924
Meckel Syndrome, Type 6	Cleft upper lip, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Talipes eq...	OMIM:612284
Joubert Syndrome 21	Anophthalmia, Short ribs, Chronic sinusitis, Single naris	OMIM:615636
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Hardikar Syndrome	Short stature, Cleft soft palate, Intestinal malrotation, Thoracolumbar scoliosis, Celiac disease...	OMIM:301068
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Supernumerary nipple, Kyphosis, Abnormal tibia morphology, Scol...	ORPHA:64755
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Pallister-Hall Syndrome	Large for gestational age, Depressed nasal ridge, Hemivertebrae, Bifid uvula, Microretrognathia, ...	ORPHA:672
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Craniosynostosis, Micromelia, Short neck, Postaxial hand polydactyly, Oxycepha...	OMIM:200995
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Short stature, Osteomalacia, Cryptorchidism, Corneal scarring, Finger swelling, S...	OMIM:309000
Micromelic Bone Dysplasia With Cloverleaf Skull	Cloverleaf skull, Micromelia	OMIM:156830
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge, Short stature	ORPHA:1861
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Pes planus, Genu recurvatum, Corneal opacity, Postnatal growth retardat...	ORPHA:90348
Tracheobronchopathia Osteochondroplastica	Calcification of cartilage	ORPHA:3348
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus de...	ORPHA:2152
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Holoprosencephaly 2	Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Submucous cleft hard palate, Abs...	OMIM:157170
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Abnormal pupil morphology, Flexion con...	ORPHA:261552
Holoprosencephaly 14	Frontal bossing, Median cleft lip, Anteverted nares, Proboscis, Cleft lip, Cleft palate	OMIM:619895
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus de...	ORPHA:261537
Orofaciodigital Syndrome Type 14	Microretrognathia, Broad hallux, Deviation of the hallux, Accessory oral frenulum, Hamartoma of t...	ORPHA:434179
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Septo-optic dysplasia, Pituitary dwarfism, Hypogonadotropic hypogonadism, Optic nerve...	ORPHA:95494
Limb-Mammary Syndrome	Cleft hard palate, Clinodactyly of the 5th finger, Bifid uvula, Syndactyly, Alopecia, Psoriasifor...	ORPHA:69085
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Severe short stature, Micromelia, Hypoplasia of the iris, Trapezoidal vertebral...	OMIM:600092
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Congenital hip dislocation, Limb joint contracture, Small for gestational age, Coxa valga, Achill...	ORPHA:404454
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Cryptorchidism, Split hand, Clubbing, Cleft palate, Growth delay	OMIM:600460
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Hamartoma of tongue, Accessory oral frenulum, Aplastic clavicle, Postaxia...	OMIM:616546
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Cataract, Severe short stature, Pyloric stenosis, Wide anterior fontanel, Recurrent...	ORPHA:90349
Thoracoabdominal Syndrome	Cleft palate, Cleft upper lip	OMIM:313850
Medulloblastoma	Back pain, Adenomatous colonic polyposis, Delayed cranial suture closure	ORPHA:616

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Csgalnact1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Csgalnact1.

No publications found that use IMPC mice or data for Csgalnact1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Csgalnact1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Csgalnact1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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