Gene: Ltbp3 MGI:1101355

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

latent transforming growth factor beta binding protein 3

Synonyms:

Ltbp2

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 Ltbp3 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 Ltbp3 (3 diseases)
Human diseases predicted to be associated with Ltbp3 (2252 diseases)

The table below shows human diseases associated to Ltbp3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Dental Anomalies And Short Stature	Narrow vertebral interpedicular distance, Short stature, Oligodontia, Platyspondyly, Herniation o...	OMIM:601216
Acromicric Dysplasia	Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Narrow mouth, Joint stiffness...	ORPHA:969
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Bulbous nose, Short stature, Depressed nasal bridge, Long philtrum, Brachyd...	OMIM:617809

The table below shows human diseases predicted to be associated to Ltbp3 by phenotypic similarity.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Hall-Riggs Mental Retardation Syndrome		Irregular vertebral endplates, Failure to thrive, Metaphyseal dysplasia, Kyphosis, Hypoplasia of ...	OMIM:234250
Pyle Disease		Metaphyseal dysplasia, Reduced bone mineral density, Metaphyseal widening, Platyspondyly, Scolios...	OMIM:265900
Scheuermann Disease		Kyphosis, Osteochondrosis, Morbus Scheuermann	OMIM:181440
Desbuquois Dysplasia 1		Radial deviation of the 2nd finger, Short 1st metacarpal, Depressed nasal bridge, Monkey wrench f...	OMIM:251450
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis		High palate, Cleft palate, Carious teeth, Genu valgum, Small epiphyses, Short long bone, Advanced...	OMIM:618363
Pseudoachondroplasia		Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e...	ORPHA:750
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome		Severe short stature, Flexion contracture, Generalized hypoplasia of dental enamel, Severe postna...	OMIM:203550
Endosteal Hyperostosis, Worth Type		Craniofacial hyperostosis, Torus palatinus, Clavicular sclerosis, Abnormal form of the vertebral ...	ORPHA:2790
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant		Epiphyseal dysplasia, Cleft palate, Malar flattening, Pierre-Robin sequence, Depressed nasal brid...	OMIM:184840
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1		Kyphosis, Malar flattening, Joint subluxation, Osteopenia, Scoliosis, Congenital bilateral hip di...	OMIM:130060
Membranous Cranial Ossification, Delayed		Downslanted palpebral fissures, Depressed nasal bridge, Hypertelorism	OMIM:155980
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3		High palate, Osteopenia, Depressed nasal bridge, Platyspondyly, Delayed eruption of teeth, Tapere...	OMIM:612350
Epiphyseal Dysplasia, Multiple, 1		Irregular vertebral endplates, Epiphyseal dysplasia, Delayed epiphyseal ossification, Joint stiff...	OMIM:132400
Otospondylomegaepiphyseal Dysplasia		Enlarged joints, Cleft palate, Abnormally ossified vertebrae, Depressed nasal bridge, Short neck,...	ORPHA:1427
Familial Intestinal Malrotation		Anteverted nares, Depressed nasal bridge, Long palpebral fissure, Hypertelorism	ORPHA:508410
Angel-Shaped Phalango-Epiphyseal Dysplasia		Hypodontia, Short stature, Short 1st metacarpal, Delayed eruption of teeth, Hip osteoarthritis, S...	ORPHA:63442
Alpha-Mannosidosis		Dental malocclusion, Kyphosis, Gingival overgrowth, Narrow palate, Macroglossia, Open bite, Ingui...	ORPHA:61
Pycnodysostosis		High palate, Abnormality of the dentition, Carious teeth, Rhizomelia, Hypoplasia of the maxilla, ...	ORPHA:763
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition		Irregular vertebral endplates, Metaphyseal irregularity, Widely-spaced incisors, Slender finger, ...	OMIM:601668
Brachydactylous Dwarfism, Mseleni Type		Short toe, Severe short stature, Joint subluxation, Osteoarthritis of the elbow, Osteopenia, Plat...	ORPHA:2619
Hip Dysplasia, Beukes Type		Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphosis, Abnormal bone ossification...	ORPHA:2114
Craniodiaphyseal Dysplasia, Autosomal Dominant		Thickened ribs, Cortical sclerosis, Diaphyseal sclerosis, Short stature, Depressed nasal bridge, ...	OMIM:122860
Craniometadiaphyseal Dysplasia		High palate, Osteopenia, Microdontia, Carious teeth, Genu valgum, Broad ribs, Mandibular prognath...	OMIM:269300
Vitamin D Hydroxylation-Deficient Rickets, Type 1A		Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Bulging of the costochondral junctio...	OMIM:264700
Vitamin D-Dependent Rickets, Type 2A		Femoral bowing, Delayed eruption of teeth, Carious teeth, Thin bony cortex, Bulging of the costoc...	OMIM:277440
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive		Enlarged joints, Bulbous nose, Cleft palate, Platyspondyly, Premature osteoarthritis, Large tarsa...	OMIM:215150
Larsen-Like Syndrome		Dental malocclusion, Wide anterior fontanel, Clinodactyly of the 5th finger, Kyphoscoliosis, Join...	OMIM:608545
Epiphyseal Dysplasia, Multiple, 2		Epiphyseal dysplasia, Tooth agenesis, Irregular epiphyses, Flattened epiphysis, Genu varum, Midfa...	OMIM:600204
Spondyloepimetaphyseal Dysplasia, Handigodu Type		Platyspondyly, Arthralgia of the hip, Disproportionate short-trunk short stature, Hip subluxation...	ORPHA:99642
Pseudopseudohypoparathyroidism		Short stature, Depressed nasal bridge, Short neck, Brachydactyly, Delayed eruption of teeth, Oste...	OMIM:612463
Osteogenesis Imperfecta, Type Iii		Kyphosis, Tibial bowing, Wide anterior fontanel, Dentinogenesis imperfecta, Recurrent fractures, ...	OMIM:259420
Maxillonasal Dysplasia, Binder Type		Short distal phalanx of finger, Dental malocclusion, Vertebral clefting, Depressed nasal bridge, ...	OMIM:155050
Pseudoachondroplasia		Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma...	OMIM:177170
Bifid Nose		Hypertelorism, Bifid nose	ORPHA:2695
Albers-Schönberg Osteopetrosis		Short distal phalanx of finger, Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Joi...	ORPHA:53
Camptodactyly Syndrome, Guadalajara Type 1		High palate, Depressed nasal bridge, Short nose, Mandibular prognathia, Intrauterine growth retar...	ORPHA:1327
Spondyloepiphyseal Dysplasia Tarda		Abnormally ossified vertebrae, Short neck, Platyspondyly, Biconcave vertebral bodies, Arthralgia ...	ORPHA:93284
Congenital Disorder Of Glycosylation, Type Iik		Failure to thrive, Epiphyseal dysplasia, Metaphyseal dysplasia, Kyphoscoliosis, Malar flattening,...	OMIM:614727
Florid Cemento-Osseous Dysplasia		Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho...	ORPHA:83451
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia		High palate, Kyphoscoliosis, Bulbous nose, Malar flattening, Depressed nasal bridge, Brachydactyl...	OMIM:600991
Trichorhinophalangeal Syndrome, Type I		Osteopenia, Delayed eruption of teeth, Microdontia, Carious teeth, Coxa magna, Chin with horizont...	OMIM:190350
Dysspondyloenchondromatosis		Vertebral segmentation defect, Enlarged joints, Kyphoscoliosis, Joint dislocation, Generalized jo...	ORPHA:85198
Three M Syndrome 1		Depressed nasal bridge, Short neck, Hypoplastic pelvis, Mandibular prognathia, Intrauterine growt...	OMIM:273750
Multiple Epiphyseal Dysplasia, Beighton Type		Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Intervertebral space narrowing, D...	ORPHA:166011
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy		Femoral bowing, Platyspondyly, Severe platyspondyly, Rhizomelia, Ovoid vertebral bodies, Metaphys...	OMIM:608940
Multiple Epiphyseal Dysplasia Type 1		Delayed epiphyseal ossification, Coxa vara, Joint stiffness, Limitation of joint mobility, Finger...	ORPHA:93308
Maxillonasal Dysplasia		Short distal phalanx of finger, Tooth agenesis, Cleft palate, Vertebral clefting, Open bite, Depr...	ORPHA:1248
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome		High palate, Slender finger, Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Ani...	ORPHA:163649
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2		Cleft palate, Long nose, 11 pairs of ribs, Intrauterine growth retardation, Short long bone, Shor...	OMIM:619184
Epiphyseal Dysplasia, Multiple, 6		Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,...	OMIM:614135
Stickler Syndrome Type 1		Cleft palate, Osteoarthritis, Platyspondyly, Long philtrum, Abnormality of vertebral epiphysis mo...	ORPHA:90653
Frank-Ter Haar Syndrome		Wide mouth, Depressed nasal bridge, Short philtrum, Delayed eruption of teeth, Osteolysis, Umbili...	ORPHA:137834
Three M Syndrome 2		High palate, Depressed nasal bridge, Short neck, Delayed eruption of teeth, Intrauterine growth r...	OMIM:612921
Cleidocranial Dysplasia		Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Down-sloping shoulders, Delay...	ORPHA:1452
Mulibrey Nanism		Dental crowding, Dental malocclusion, Hypodontia, Short stature, Dolichocephaly, Depressed nasal ...	OMIM:253250
Mueller-Weiss Syndrome		Joint stiffness, Sclerosis of foot bone, Limitation of movement at ankles, Joint subluxation, Fra...	ORPHA:566943
Endosteal Hyperostosis, Autosomal Dominant		Dental malocclusion, Metacarpal diaphyseal endosteal sclerosis, Metatarsal diaphyseal endosteal s...	OMIM:144750
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome		Short distal phalanx of finger, Dental malocclusion, Kyphosis, Short stature, Abnormality of the ...	ORPHA:1858
Laron Syndrome		Short toe, Tooth agenesis, Severe short stature, Aplasia/Hypoplasia involving the nose, Depressed...	ORPHA:633
Parastremmatic Dwarfism		Kyphosis, Severe short stature, Short neck, Scoliosis, Genu valgum	OMIM:168400
Acrodysostosis		Depressed nasal ridge, Hypoplasia of the radius, Depressed nasal bridge, Cone-shaped epiphysis, D...	ORPHA:950
Spondylometaphyseal Dysplasia, Kozlowski Type		Abnormal humeral metaphysis morphology, Platyspondyly, Disproportionate short-trunk short stature...	ORPHA:93314
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly		Premature loss of teeth, Metaphyseal dysplasia, Convex nasal ridge, Short stature, Thin vermilion...	OMIM:156510
Atkin-Flaitz Syndrome		Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,...	OMIM:300431
Microbrachycephaly-Ptosis-Cleft Lip Syndrome		Cone-shaped epiphysis, Abnormality of the pubic bone, Shagreen patch, Mandibular prognathia, Abno...	ORPHA:2511
Spondyloepimetaphyseal Dysplasia, Irapa Type		Coxa vara, Disproportionate short-limb short stature, Abnormal joint morphology, Limitation of jo...	ORPHA:93351
Frontofacionasal Dysplasia		Depressed nasal ridge, Absent inner eyelashes, Dimple on nasal tip, Depressed nasal bridge, Aplas...	ORPHA:1791
Hypocalcemic Vitamin D-Dependent Rickets		Femoral bowing, Delayed eruption of teeth, Thin bony cortex, Subperiosteal bone resorption, Osteo...	ORPHA:289157
Cleidocranial Dysplasia 1		High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, Depressed nasal br...	OMIM:119600
Clark-Baraitser syndrome		Kyphosis, Maxillary lateral incisor microdontia, Genu recurvatum, Prominent median palatal raphe,...	OMIM:300602
Craniosynostosis 3		Dental malocclusion, Brachydactyly, Sagittal craniosynostosis, Hallux valgus, Left unicoronal syn...	OMIM:615314
Mucopolysaccharidosis, Type Iva		Pointed proximal second through fifth metacarpals, Wide mouth, Anterior beaking of lumbar vertebr...	OMIM:253000
Progressive Pseudorheumatoid Dysplasia		Coxa vara, Kyphoscoliosis, Joint swelling, Joint stiffness, Enlarged metacarpophalangeal joints, ...	OMIM:208230
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans		Lumbar hyperlordosis, Short stature, Depressed nasal bridge, Osteoarthritis, Brachydactyly, Broad...	OMIM:165800
Mucopolysaccharidosis, Type Ivb		Pointed proximal second through fifth metacarpals, Wide mouth, Platyspondyly, Carious teeth, Disp...	OMIM:253010
Pde4D Haploinsufficiency Syndrome		Broad phalanx, Depressed nasal bridge, Cone-shaped epiphysis, Short philtrum, Upper limb undergro...	ORPHA:439822
Acrodysostosis 1 With Or Without Hormone Resistance		Cone-shaped epiphyses of the phalanges of the hand, Mild postnatal growth retardation, Calvarial ...	OMIM:101800
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations		Fragmented epiphyses, Slender finger, Platyspondyly, Genu valgum, Abnormality of the curvature of...	ORPHA:93360
Odontochondrodysplasia		Dentinogenesis imperfecta, Short stature, Retrognathia, Depressed nasal bridge, Cone-shaped epiph...	ORPHA:166272
Cranioectodermal Dysplasia		Short distal phalanx of finger, Abnormal dental enamel morphology, Clinodactyly of the 5th finger...	ORPHA:1515
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome		Dentinogenesis imperfecta, Short stature, Cone-shaped epiphysis, Platyspondyly, Short philtrum, D...	ORPHA:71267
Epiphyseal Dysplasia, Multiple, 5		Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed tarsal ossification, Delayed o...	OMIM:607078
Epiphyseal Dysplasia, Multiple, 3		Epiphyseal dysplasia, Delayed epiphyseal ossification, Osteoarthritis, Irregular epiphyses, Abnor...	OMIM:600969
Mcdonough Syndrome		Dental malocclusion, Kyphosis, Open bite, Short stature, Micrognathia, Cachexia, Short philtrum, ...	ORPHA:2471
Regional Odontodysplasia		Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D...	ORPHA:83450
Metaphyseal Chondrodysplasia, Spahr Type		Metaphyseal dysplasia, Reduced bone mineral density, Abnormality of the dentition, Scoliosis, Gen...	ORPHA:2501
Seckel Syndrome 1		High palate, Cone-shaped epiphyses of the phalanges of the hand, Cleft palate, 11 pairs of ribs, ...	OMIM:210600
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome		Convex nasal ridge, Cleft ala nasi, Telecanthus, Hypertelorism, Underdeveloped nasal alae, Wide n...	ORPHA:2007
Stickler Syndrome, Type I		Cleft palate, Depressed nasal bridge, Platyspondyly, Midface retrusion, Joint stiffness, Spondylo...	OMIM:108300
Odontochondrodysplasia 1		Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Delayed eruption of teeth, Sma...	OMIM:184260
Hypochondroplasia		Spinal canal stenosis, Abnormality of femur morphology, Short toe, Childhood onset short-limb sho...	ORPHA:429
48,Xyyy Syndrome		High palate, Dislocated radial head, Irregularly spaced teeth, Depressed nasal bridge, Recurrent ...	ORPHA:99329
Dysostosis, Stanescu Type		Abnormality of the dentition, Short neck, Carious teeth, Abnormal epiphysis morphology, Hypoplasi...	ORPHA:1798
Intermediate Osteopetrosis		Sandwich appearance of vertebral bodies, Dental malocclusion, Cortical sclerosis, Osteomyelitis, ...	ORPHA:210110
Osteogenesis Imperfecta, Type Xii		High palate, Narrow mouth, Malar flattening, Short stature, Micrognathia, Depressed nasal bridge,...	OMIM:613849
Kahrizi Syndrome		Iris coloboma, Bulbous nose, Cataract, Wide nasal bridge	OMIM:612713
Hypophosphatemic Rickets, X-Linked Dominant		Spinal canal stenosis, Metaphyseal irregularity, Tibial bowing, Bowing of the legs, Trapezoidal d...	OMIM:307800
Blepharophimosis-Impaired Intellectual Development Syndrome		Wide mouth, Short philtrum, Microdontia, Tapered finger, Short distal phalanx of finger, Clinodac...	OMIM:619293
Rubinstein-Taybi Syndrome 2		High palate, Dental malocclusion, Narrow palate, Convex nasal ridge, Retrognathia, Micrognathia, ...	OMIM:613684
Trismus-Pseudocamptodactyly Syndrome		Short stature, Symphalangism affecting the phalanges of the hand, Hip dislocation, Limitation of ...	ORPHA:3377
Familial Scheuermann Disease		Kyphosis, Abnormal form of the vertebral bodies	ORPHA:3135
Hyperostosis Corticalis Generalisata		Generalized osteosclerosis, Mandibular prognathia, Abnormal cortical bone morphology, Cranial hyp...	ORPHA:3416
Phosphoserine Phosphatase Deficiency		Hypertonia, Postnatal growth retardation, Intrauterine growth retardation	OMIM:614023
Muenke Syndrome		High palate, Dental malocclusion, Cone-shaped epiphyses of the phalanges of the hand, Plagiocepha...	OMIM:602849
Oculocerebrodental Syndrome		Metaphyseal dysplasia, Short stature, Retrognathia, Abnormality of the dentition, Oligodontia, De...	ORPHA:557003
17Q21.31 Microduplication Syndrome		High palate, Failure to thrive, Clinodactyly of the 5th finger, Malar flattening, Micrognathia, A...	ORPHA:217340
Mucopolysaccharidosis Type 4		Wide mouth, Abnormality of the dentition, Short neck, Platyspondyly, Carious teeth, Genu valgum, ...	ORPHA:582
Osteogenesis Imperfecta, Type V		Recurrent fractures, Anterior radial head dislocation, Dentinogenesis imperfecta, Limited pronati...	OMIM:610967
Robinow Syndrome, Autosomal Dominant 2		Wide mouth, Triangular mouth, Cleft palate, Abnormality of the dentition, Depressed nasal bridge,...	OMIM:616331
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia		High palate, Dental malocclusion, Long fingers, Tapered finger, Pointed chin, Anteverted nares, M...	OMIM:618292
Intellectual Disability, Buenos-Aires Type		High palate, Dental malocclusion, Clinodactyly of the 5th finger, Open bite, Reduced bone mineral...	ORPHA:3079
Multiple Epiphyseal Dysplasia Type 4		High palate, Short metacarpal, Cleft palate, Upper limb undergrowth, Arthralgia of the hip, Genu ...	ORPHA:93307
Pseudohypoparathyroidism, Type Ia		Short toe, Subcutaneous ossification, Short stature, Depressed nasal bridge, Short neck, Brachyda...	OMIM:103580
Osteogenesis Imperfecta, Type Ix		Kyphosis, Recurrent fractures, Disproportionate short-limb short stature, Dentinogenesis imperfec...	OMIM:259440
Frontometaphyseal Dysplasia 1		High palate, Cleft palate, Craniosynostosis, Increased density of long bone diaphyses, Delayed er...	OMIM:305620
3M Syndrome		Bulbous nose, Congenital hip dislocation, Short neck, Delayed eruption of teeth, Hypoplasia of th...	ORPHA:2616
Intellectual Disability And Myopathy Syndrome		Dental malocclusion, Lumbar hyperlordosis, Broad nasal tip, Atopic dermatitis, Congenital hip dis...	OMIM:619719
Intellectual Disability-Cataracts-Kyphosis Syndrome		Iris coloboma, Bulbous nose, Cataract, Wide nasal bridge	ORPHA:171860
Dentinogenesis Imperfecta		Selective tooth agenesis, Persistence of primary teeth, Fragile teeth, Joint hypermobility, Finge...	ORPHA:49042
Osteogenesis Imperfecta, Type Xxii		Recurrent fractures, Dentinogenesis imperfecta, Reduced bone mineral density, Short stature, Worm...	OMIM:619795
Spondyloepimetaphyseal Dysplasia, Irapa Type		Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy...	OMIM:271650
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta		Dentinogenesis imperfecta, Thin ribs, Epiphyseal streaking, Clinodactyly of the 4th toe, Short st...	OMIM:604922
Larsen-Like Osseous Dysplasia-Short Stature Syndrome		Intrauterine growth retardation, Narrow mouth, Clinodactyly of the 5th finger, Reduced bone miner...	ORPHA:2370
Mental Retardation, X-Linked 82		Kyphosis, Scoliosis	OMIM:300518
Dyssegmental Dysplasia With Glaucoma		Delayed epiphyseal ossification, Wide anterior fontanel, Hip contracture, Malar flattening, Cleft...	OMIM:601561
Leukodystrophy, Hypomyelinating, 17		Growth delay, Kyphoscoliosis, Gingival overgrowth, Flexion contracture, Low hanging columella, Wi...	OMIM:618006
Microcephalic Primordial Dwarfism, Toriello Type		Severe short stature, Brachydactyly, Enamel hypoplasia, Downturned corners of mouth, Abnormal rib...	ORPHA:2643
Van Maldergem Syndrome 2		High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver...	OMIM:615546
Chondrocalcinosis Due To Apatite Crystal Deposition		Intervertebral disk calcification, Osteoarthritis of the small joints of the hand, Costal cartila...	OMIM:118610
Osteoarthritis With Mild Chondrodysplasia		Irregular vertebral endplates, Beaking of vertebral bodies, Joint stiffness, Short stature, Platy...	OMIM:604864
Rhizomelic Syndrome, Urbach Type		High palate, Abnormality of the tongue, Cleft palate, Depressed nasal bridge, Short neck, Abnorma...	ORPHA:3098
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome		High palate, Bulbous nose, Malar flattening, Hemivertebrae, Depressed nasal bridge, Brachydactyly...	ORPHA:2180
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa		Downslanted palpebral fissures, Iris coloboma, Hypertelorism, Nasal polyposis	OMIM:155145
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia		Toe clinodactyly, Dentinogenesis imperfecta, Short stature, Dolichocephaly, Wormian bones, Upper ...	ORPHA:166277
Cataract-Microcornea Syndrome		Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy	ORPHA:1377
Van Maldergem Syndrome 1		High palate, Short fourth metatarsal, Osteopenia, Hypoplasia of the maxilla, Tented upper lip ver...	OMIM:601390
Spastic Paraplegia 18, Autosomal Recessive		Kyphosis, Babinski sign, Scoliosis, Spastic paraplegia, Upper limb spasticity, Lower limb spasticity	OMIM:611225
Osteopenia-Intellectual Disability-Sparse Hair Syndrome		Recurrent fractures, Bulbous nose, 2-3 toe syndactyly, Postnatal growth retardation, Osteopenia, ...	ORPHA:2324
Oculodentodigital Dysplasia, Autosomal Recessive		Macrodontia of permanent maxillary central incisor, Long nose, Delayed eruption of teeth, Hypopla...	OMIM:257850
Polydactyly, Postaxial, With Dental And Vertebral Anomalies		Dens in dente, Hemivertebrae, Macrodontia, Mandibular prognathia, Spinal canal stenosis, Clinodac...	OMIM:263540
Familial Scaphocephaly Syndrome, Mcgillivray Type		High palate, Trigonocephaly, Open bite, Dolichocephaly, Broad hallux phalanx, Mandibular prognath...	ORPHA:168624
Metatropic Dysplasia		Enlarged joints, Halberd-shaped pelvis, Depressed nasal bridge, Cone-shaped epiphysis, Platyspond...	OMIM:156530
Momo Syndrome		High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Short sternum, Abnormal...	ORPHA:2563
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2		Prominent fingertip pads, Eczema, Tapered finger, Genu valgum, Mandibular prognathia, Midface ret...	OMIM:619721
Osteopetrosis, Autosomal Dominant 2		Recurrent fractures, Mandibular osteomyelitis, Osteopetrosis, Fractures of the long bones, Abnorm...	OMIM:166600
Spondyloepiphyseal Dysplasia, Nishimura Type		Delayed epiphyseal ossification, Disproportionate short-limb short stature, Small hand, Cone-shap...	OMIM:618618
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly		Coxa vara, Short stature, Osteoarthritis, Abnormality of the epiphyses of the feet, Abnormality o...	ORPHA:166002
Pai Syndrome		Depressed nasal bridge, Downslanted palpebral fissures, Telecanthus, Iris coloboma, Hypertelorism...	ORPHA:1993
Intellectual Developmental Disorder, Autosomal Recessive 39		Dental malocclusion, Kyphoscoliosis, Short stature, Hallux valgus, Prominent nose	OMIM:615541
Hypochondroplasia		Childhood onset short-limb short stature, Lumbar hyperlordosis, Malar flattening, Flared metaphys...	OMIM:146000
Eiken Syndrome		Epiphyseal dysplasia, Metaphyseal irregularity, Short toe, Delayed epiphyseal ossification, Abnor...	ORPHA:79106
Diastrophic Dysplasia		Cervical kyphosis, Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Hypoplastic cervical ve...	OMIM:222600
Shprintzen-Goldberg Craniosynostosis Syndrome		High palate, Craniosynostosis, Osteopenia, Brachyturricephaly, Genu valgum, Hypoplasia of the max...	OMIM:182212
Mental Retardation, Buenos Aires Type		High palate, Dental malocclusion, Failure to thrive, Clinodactyly of the 5th finger, Wide mouth, ...	OMIM:249630
Premature Aging Syndrome, Penttinen Type		Lipoatrophy, Thin calvarium, Thin vermilion border, Micrognathia, Delayed cranial suture closure,...	OMIM:601812
Frank-Ter Haar Syndrome		High palate, Wide mouth, Osteopenia, Broad nasal tip, Depressed nasal bridge, Bowing of the long ...	OMIM:249420
Atelosteogenesis, Type Iii		Cleft palate, Horizontal sacrum, Depressed nasal bridge, Tombstone-shaped proximal phalanges, Sho...	OMIM:108721
Ulnar Hemimelia		Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia...	ORPHA:93320
Dermatoosteolysis, Kirghizian Type		Keratitis, Abnormality of the dentition, Oligodontia, Osteoarthritis, Brachydactyly, Scoliosis, A...	ORPHA:1657
Cole-Carpenter Syndrome 2		High palate, Kyphosis, Dentinogenesis imperfecta, Microretrognathia, Thin ribs, Short stature, Co...	OMIM:616294
Craniometaphyseal Dysplasia, Autosomal Dominant		Calvarial osteosclerosis, Sclerosis of skull base, Tooth malposition, Bony paranasal bossing, Met...	OMIM:123000
Filippi Syndrome		Decreased body weight, Postnatal growth retardation, Hypodontia, Low hanging columella, Thin verm...	OMIM:272440
Sclerosteosis 1		Cortically dense long tubular bones, Dental malocclusion, Tooth malposition, Malar flattening, De...	OMIM:269500
Pseudohypoparathyroidism, Type Ic		Short stature, Depressed nasal bridge, Short neck, Brachydactyly, Delayed eruption of teeth, Oste...	OMIM:612462
Dyggve-Melchior-Clausen Disease		Cone-shaped epiphyses of the phalanges of the hand, Femoral bowing, Short neck, Platyspondyly, Rh...	OMIM:223800
Anauxetic Dysplasia 1		Short neck, Platyspondyly, Microdontia, Rhizomelia, Small epiphyses, Cervical subluxation, Mandib...	OMIM:607095
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement		High palate, Slender finger, Cleft palate, Abnormality of the dentition, Short philtrum, Short ne...	ORPHA:251028
Microcephalic Primordial Dwarfism, Toriello Type		Severe short stature, Micrognathia, Short middle phalanx of toe, Short proximal phalanx of hallux...	OMIM:251190
Aredyld Syndrome		Craniofacial hyperostosis, Narrow mouth, Lipoatrophy, Short stature, Cachexia, Abnormal nasal mor...	ORPHA:1133
Osteogenesis Imperfecta, Type Viii		Femoral bowing, Osteopenia, Platyspondyly, Decreased calvarial ossification, Disproportionate sho...	OMIM:610915
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia		Cleft palate, Malar flattening, Glossoptosis, Micrognathia, Osteoarthritis, Long philtrum, Abnorm...	ORPHA:166100
Cole-Carpenter Syndrome		Kyphosis, Recurrent fractures, Short stature, Micrognathia, Scoliosis, Delayed eruption of teeth,...	ORPHA:2050
Otodental Dysplasia		Agenesis of premolar, Taurodontia, Long philtrum, Delayed eruption of teeth, Pulp calcification, ...	OMIM:166750
Osteolysis Syndrome, Recessive		Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan...	OMIM:259610
Rhizomelic Dysplasia, Patterson-Lowry Type		Coxa vara, Deformed humeral heads, Depressed nasal ridge, Short humerus, Brachydactyly, Abnormal ...	ORPHA:2831
Acrodysostosis 2 With Or Without Hormone Resistance		Spinal canal stenosis, Intrauterine growth retardation, Malar flattening, Depressed nasal bridge,...	OMIM:614613
Stickler Syndrome		Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Platyspondyly, Advanced eruption of ...	ORPHA:828
Familial Osteodysplasia, Anderson Type		Bulbous nose, Depressed nasal ridge, Long nose, Carious teeth, Mandibular prognathia, Abnormal co...	ORPHA:2769
Codas Syndrome		Coronal cleft vertebrae, Short stature, Depressed nasal bridge, Congenital hip dislocation, Brach...	ORPHA:1458
Andersen Cardiodysrhythmic Periodic Paralysis		High palate, Bulbous nose, Cleft palate, Small finger, Hypoplasia of the maxilla, Clinodactyly of...	OMIM:170390
Widow'S Peak Syndrome		Kyphosis, Inguinal hernia, Arthralgia/arthritis, Short stature, High iliac wing, Arthralgia of th...	OMIM:314570
Dental Ankylosis		Mandibular prognathia, Clinodactyly of the 5th finger, Tooth agenesis, Abnormal dental enamel mor...	ORPHA:1077
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome		Cleft palate, Short stature, Micrognathia, Short neck, Short nose, Anteverted nares, Abnormal ver...	ORPHA:2015
Primary Condylar Hyperplasia		Abnormal mandible condylar process morphology, Anterior open-bite malocclusion, Macrodontia, Abno...	ORPHA:477781
Osteochondrosis Of The Metatarsal Bone		Abnormality of the third metatarsal bone, Progressive joint destruction, Joint stiffness, Thicken...	ORPHA:564003
Amelogenesis Imperfecta		Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un...	ORPHA:88661
Raine Syndrome		High palate, Wide mouth, Cleft palate, Depressed nasal bridge, Short neck, Brachyturricephaly, Mi...	OMIM:259775
Ehlers-Danlos Syndrome, Classic-Like, 2		High palate, Osteopenia, Short neck, Hammertoe, Ventral hernia, Umbilical hernia, Cervical C2/C3 ...	OMIM:618000
Osteogenesis Imperfecta, Type Iv		Kyphosis, Otosclerosis, Recurrent fractures, Dentinogenesis imperfecta, Femoral bowing present at...	OMIM:166220
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome		Kyphosis, Wide mouth, Everted lower lip vermilion, Short philtrum, Scoliosis, Truncal obesity, Sh...	ORPHA:2429
Brachyolmia Type 1, Hobaek Type		Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop...	OMIM:271530
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii		Short 1st metacarpal, Cone-shaped epiphysis, Microdontia, Proximal femoral epiphysiolysis, Intrau...	OMIM:210720
Spondyloepimetaphyseal Dysplasia, Sponastrime Type		Bulbous nose, Abnormality of the dentition, Osteopenia, Platyspondyly, Biconcave vertebral bodies...	OMIM:271510
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome		Kyphosis, Plagiocephaly, Clinodactyly of the 5th finger, Hypoplastic vertebral bodies, Hypodontia...	ORPHA:2916
Arthrogryposis, Distal, Type 2A		High palate, Flexion contracture of finger, Pursed lips, Chin with H-shaped crease, Short neck, S...	OMIM:193700
Epidermolysis Bullosa, Junctional 1A, Intermediate		Oral mucosal blisters, Hypodontia, Camptodactyly of finger, Carious teeth, Enamel hypoplasia	OMIM:226650
Short Syndrome		Dental malocclusion, Lipoatrophy, Hypodontia, Inguinal hernia, Small for gestational age, Microgn...	OMIM:269880
Diastrophic Dysplasia		Cleft palate, Depressed nasal bridge, Symphalangism affecting the phalanges of the hand, Ulnar de...	ORPHA:628
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia		Osteopenia, Depressed nasal bridge, Congenital hip dislocation, Tapered finger, Genu valgum, Shor...	OMIM:616007
Hall-Riggs Syndrome		Failure to thrive, Wide mouth, Joint stiffness, Short stature, Platyspondyly, Brachydactyly, Dela...	ORPHA:2107
Arthrogryposis, Distal, Type 2B1		High palate, Narrow mouth, Short stature, Micrognathia, Camptodactyly of finger, Scoliosis, Long ...	OMIM:601680
Fryns Macrocephaly		Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor...	OMIM:600302
Temtamy Preaxial Brachydactyly Syndrome		Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A...	ORPHA:363417
Auriculocondylar Syndrome 2		Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi...	OMIM:614669
Brachydactyly, Type B1		Wide anterior fontanel, Joint contracture of the hand, Hypoplastic sacrum, Hemivertebrae, Delayed...	OMIM:113000
Microphthalmia, Isolated, With Coloboma 10		Iris coloboma, Microcoria, Chorioretinal coloboma	OMIM:616428
Non-Distal Trisomy 10Q		High palate, Convex nasal ridge, Everted lower lip vermilion, Short stature, Micrognathia, Depres...	ORPHA:1695
Osteogenesis Imperfecta, Type Xi		Coxa vara, Kyphoscoliosis, Brachycephaly, Dentinogenesis imperfecta, Short stature, Abnormality o...	OMIM:610968
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies		High palate, Dental malocclusion, Failure to thrive, Kyphoscoliosis, Supernumerary tooth, Anodont...	OMIM:264475
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome		Kyphosis, Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Short stature, Micrognat...	ORPHA:3082
Geroderma Osteodysplastica		Beaking of vertebral bodies, Recurrent fractures, Abnormal bone ossification, Severe short statur...	ORPHA:2078
Osteoglophonic Dysplasia		High palate, Broad phalanx, Craniosynostosis, Depressed nasal bridge, Short neck, Platyspondyly, ...	OMIM:166250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4		Depressed nasal bridge, Hypertelorism, Epicanthus	OMIM:616911
Amelogenesis Imperfecta, Type Ij		Carious teeth, Enamel hypoplasia, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta	OMIM:617297
Hallermann-Streiff Syndrome		High palate, Thin calvarium, Decreased number of sternal ossification centers, Scaphocephaly, Pro...	OMIM:234100
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome		Slender finger, Short philtrum, Down-sloping shoulders, Short neck, Short nose, Proportionate sho...	ORPHA:391408
Craniofaciofrontodigital Syndrome		Dental malocclusion, Hypoplastic vertebral bodies, Short stature, Abnormality of the dentition, D...	OMIM:114620
Harrod Syndrome		High palate, Dental malocclusion, Failure to thrive, Kyphosis, Narrow mouth, Arachnodactyly, Long...	ORPHA:2115
Nail-Patella Syndrome		Abnormality of femur morphology, Proximal finger joint hyperextensibility, Limited pronation/supi...	ORPHA:2614
Osteoglosphonic Dysplasia		Tooth agenesis, Abnormal bone ossification, Severe short stature, Inguinal hernia, Craniosynostos...	ORPHA:2645
Multicentric Osteolysis, Nodulosis, And Arthropathy		Bulbous nose, Osteopenia, Delayed eruption of teeth, Thin metacarpal cortices, C1-C2 subluxation,...	OMIM:259600
Braddock-Carey Syndrome 1		U-Shaped upper lip vermilion, Growth delay, Cleft palate, Everted lower lip vermilion, Small hand...	OMIM:619980
Cat-Eye Syndrome		Downslanted palpebral fissures, Iris coloboma, Hypertelorism, Chorioretinal coloboma	ORPHA:195
Autosomal Recessive Distal Osteolysis Syndrome		Short distal phalanx of finger, Short stature, Abnormality of the dentition, Broad nasal tip, Ost...	ORPHA:2776
Hemifacial Atrophy, Progressive		Dental malocclusion, Kyphosis, Short mandibular rami, Delayed eruption of teeth, Tongue atrophy	OMIM:141300
Craniolenticulosutural Dysplasia		High palate, Wide mouth, Cleft palate, Osteopenia, Delayed eruption of teeth, Carious teeth, Dela...	OMIM:607812
Eiken Syndrome		Short philtrum, Broad ribs, Multiple unerupted teeth, Midface retrusion, Thick lower lip vermilio...	OMIM:600002
Pfeiffer-Palm-Teller Syndrome		Enamel hypoplasia, Joint stiffness, Short stature	ORPHA:2871
Dentin Dysplasia		Abnormality of dental morphology, Increased bone mineral density, Abnormal dental enamel morphology	ORPHA:1653
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis		Iridocyclitis, Mild postnatal growth retardation, Uveitis, Ankle swelling, Knee osteoarthritis, E...	ORPHA:85408
Cohen Syndrome		Lumbar hyperlordosis, Macrodontia of permanent maxillary central incisor, Thoracic scoliosis, Hig...	OMIM:216550
Mcdonough Syndrome		Dental malocclusion, Kyphoscoliosis, Short stature, Micrognathia, Short philtrum, Furrowed tongue...	OMIM:248950
Intellectual Developmental Disorder, Autosomal Recessive 74		Narrow palate, Dolichocephaly, Brachydactyly, Prominent nose, Mandibular prognathia, Wide nasal b...	OMIM:617169
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome		Dental malocclusion, Malar flattening, Short stature, Micrognathia, Short neck, Brachydactyly, Di...	ORPHA:436245
17Q11.2 Microduplication Syndrome		Malar flattening, Short stature, Thin vermilion border, Bifid nose, Enamel hypoplasia, Thick nasa...	ORPHA:139474
Pycnodysostosis		Carious teeth, Absent frontal sinuses, Spondylolisthesis, Increased bone mineral density, Microgn...	OMIM:265800
Intellectual Disability, Birk-Barel Type		High, narrow palate, Dolichocephaly, Micrognathia, Short philtrum, Broad nasal tip, Congenital fi...	ORPHA:166108
Codas Syndrome		Depressed nasal bridge, Congenital hip dislocation, Delayed eruption of teeth, Broad skull, Genu ...	OMIM:600373
Angel-Shaped Phalangoepiphyseal Dysplasia		Delayed ossification of carpal bones, Short stature, Hyperextensibility of the finger joints, Hip...	OMIM:105835
Sponastrime Dysplasia		Depressed nasal bridge, Platyspondyly, Biconcave vertebral bodies, Microdontia, Hypoplasia of the...	ORPHA:93357
Craniometaphyseal Dysplasia, Autosomal Recessive		Metaphyseal dysplasia, Patchy sclerosis of finger phalanx, Bony paranasal bossing, Flared metaphy...	OMIM:218400
Dysosteosclerosis		High palate, Short sternum, Osteopenia, Platyspondyly, Delayed eruption of teeth, Broad ribs, Scl...	OMIM:224300
Potocki-Lupski Syndrome		High palate, Dental malocclusion, Failure to thrive, Wide mouth, Prominent nasal tip, Small for g...	OMIM:610883
Gorlin Syndrome		Brachycephaly, Arachnodactyly, Hemivertebrae, Vertebral fusion, Abnormality of the sense of smell...	ORPHA:377
Cataract 9, Multiple Types		Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract	OMIM:604219
Spondylocarpotarsal Synostosis Syndrome		Cleft palate, Broad nasal tip, Short neck, Disproportionate short-trunk short stature, Short nose...	OMIM:272460
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1		High palate, Short toe, Clinodactyly of the 5th finger, Spondylolisthesis, Everted lower lip verm...	OMIM:617877
Dysosteosclerosis		Irregular vertebral endplates, Recurrent fractures, Craniofacial hyperostosis, Hypoplastic verteb...	ORPHA:1782
Osteogenesis Imperfecta		Abnormality of femur morphology, Femoral bowing, Abnormality of the dentition, Osteopenia, Biconc...	ORPHA:666
Trichothiodystrophy 9, Nonphotosensitive		Dental malocclusion, Brachydactyly, High, narrow palate, Joint laxity	OMIM:619692
Temtamy Syndrome		Convex nasal ridge, Telecanthus, Iris coloboma, Hypertelorism, Chorioretinal coloboma	ORPHA:1777
Mental Retardation, X-Linked 91		High palate, Small hand, Short 5th finger, Macrodontia, Short nose, Cubitus valgus, Clinodactyly,...	OMIM:300577
Terminal Osseous Dysplasia		Depressed nasal tip, Telecanthus, Epicanthus, Iris coloboma, Hypertelorism, Ptosis	OMIM:300244
Spondyloepimetaphyseal Dysplasia, Shohat Type		Platyspondyly, Short neck, Abnormal epiphysis morphology, Generalized bone demineralization, Prem...	ORPHA:93352
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive		Short stature, Flattened metacarpal heads, Osteoarthritis, Platyspondyly, Flattened metatarsal he...	OMIM:271600
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome		Iris coloboma, Lacrimal duct atresia	ORPHA:139450
Spondyloepimetaphyseal Dysplasia, Missouri Type		Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ...	OMIM:602111
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones		Slender build, Failure to thrive, Slender long bones with narrow diaphyses, Small for gestational...	OMIM:608154
Spondyloepiphyseal Dysplasia, Kimberley Type		Platyspondyly, Proportionate short stature, Osteoarthritis, Abnormal epiphysis morphology	ORPHA:93283
Sclerosteosis 2		Cutaneous finger syndactyly, Frontal bossing, Mandibular prognathia, Short finger	OMIM:614305
Acrootoocular Syndrome		Dental malocclusion, Short toe, Failure to thrive, Supernumerary tooth, Abnormal finger flexion c...	ORPHA:2980
Anophthalmia Plus Syndrome		Abnormal nasal morphology, Iris coloboma, Choanal atresia, Eyelid coloboma, Hypertelorism, Blepha...	ORPHA:1104
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome		Widely spaced teeth, Dental malocclusion, Malar flattening, Short stature	OMIM:616108
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy		High palate, Dental malocclusion, Failure to thrive, Micrognathia, Osteopenia, Scoliosis, Deep ph...	ORPHA:329178
X-Linked Hypophosphatemia		Craniosynostosis, Upper limb metaphyseal widening, Genu valgum, Abnormal epiphysis morphology, Bo...	ORPHA:89936
Acromesomelic Dysplasia, Maroteaux Type		Kyphosis, Beaking of vertebral bodies, Joint stiffness, Dolichocephaly, Depressed nasal bridge, S...	ORPHA:40
Marshall Syndrome		Macrodontia of permanent maxillary central incisor, Cleft palate, Depressed nasal bridge, Clinoda...	OMIM:154780
Permanent Molars, Secondary Retention Of		Mandibular prognathia, Clinodactyly of the 5th finger, Abnormality of the dentition	OMIM:157950
Schaaf-Yang Syndrome		Kyphosis, Flexion contracture, Short stature, Small hand, Retrognathia, Open mouth, Brachydactyly...	OMIM:615547
Marshall Syndrome		High palate, Cleft palate, Abnormality of the dentition, Depressed nasal bridge, Genu valgum, Sho...	ORPHA:560
Ankylosing Vertebral Hyperostosis With Tylosis		Abnormal pelvis bone morphology, Osteoarthritis, Abnormality of the vertebral column, Obesity	ORPHA:2206
Amelogenesis Imperfecta, Type Ie		Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Microdontia	OMIM:301200
Ectodermal Dysplasia 13, Hair/Tooth Type		Sparse eyelashes, Depressed nasal bridge, Thin eyebrow, Hypertelorism, Wide nasal bridge	OMIM:617392
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies		Plagiocephaly, Micrognathia, Unilambdoid synostosis, Long philtrum, Scoliosis, Ulnar deviation of...	OMIM:618577
Developmental And Epileptic Encephalopathy 73		Failure to thrive, Flexion contracture, Inguinal hernia, Scoliosis, Midface retrusion, Narrow nas...	OMIM:618379
Pseudohypoparathyroidism Type 1B		Diaphyseal sclerosis, Increased bone mineral density, Short stature, Depressed nasal bridge, Shor...	ORPHA:94089
Dental Anomalies And Short Stature		Narrow vertebral interpedicular distance, Short stature, Oligodontia, Platyspondyly, Herniation o...	OMIM:601216
Microphthalmia, Isolated, With Coloboma 3		Iris coloboma, Cataract	OMIM:610092
Cat-Eye Syndrome (Type I)		Downslanted palpebral fissures, Iris coloboma	DECIPHER:42
Ck Syndrome		Slender build, Kyphosis, High palate, Malar flattening, Retrognathia, Micrognathia, Scoliosis, Hy...	OMIM:300831
Amelogenesis Imperfecta, Hypomaturation Type, Iia1		Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari...	OMIM:204700
Osteochondrosis Of The Tarsal Bone		Chondritis, Arthritis, Tarsal sclerosis, Osteochondritis dissecans, Flattening of the talar dome,...	ORPHA:563991
Cleft Palate, Isolated		Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Achondrogenesis Type 1B		Severe short stature, Micrognathia, Short neck, Long philtrum, Abnormal rib morphology, Femoral h...	ORPHA:93298
Melnick-Needles Syndrome		Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the pubic bone, Delayed erupti...	ORPHA:2484
Neuronopathy, Distal Hereditary Motor, Type Viia		Tremor, Vocal cord paralysis, Vocal cord paresis	OMIM:158580
Pierpont Syndrome		Prominent fingertip pads, Broad nasal tip, Short neck, Short nose, Midface retrusion, Decreased b...	OMIM:602342
Winchester Syndrome		Broad metacarpals, Kyphosis, Gingival overgrowth, Generalized osteoporosis, Carpal osteolysis, Ar...	OMIM:277950
Spondylometaphyseal Dysplasia, Schmidt Type		Platyspondyly, Disproportionate short-trunk short stature, Irregular acetabular roof, Genu valgum...	ORPHA:93316
Hajdu-Cheney Syndrome		High palate, Foot acroosteolysis, Osteopenia, Short neck, Biconcave vertebral bodies, Osteolytic ...	OMIM:102500
Hamamy Syndrome		High palate, Wide mouth, Craniosynostosis, Osteopenia, Down-sloping shoulders, Tapered finger, Cl...	OMIM:611174
Smith-Magenis Syndrome		Cleft palate, Depressed nasal bridge, Short philtrum, Short nose, Tented upper lip vermilion, Ope...	ORPHA:819
Nestor-Guillermo Progeria Syndrome		Osteolysis, Delayed closure of the anterior fontanelle, Midface retrusion, Joint stiffness, Flexi...	OMIM:614008
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability		Corneal opacity, Posterior embryotoxon, Iris coloboma, Cataract, Ptosis, Chorioretinal coloboma	ORPHA:1473
Cockayne Syndrome Type 2		Kyphosis, Widely spaced primary teeth, Anodontia, Hypoplasia of the primary teeth, Scarring, Flex...	ORPHA:90322
Short Stature, Dauber-Argente Type		Decreased fibular diameter, Reduced bone mineral density, Arachnodactyly, Osteopenia, Short statu...	OMIM:619489
Achondrogenesis Type 1A		Recurrent fractures, Severe short stature, Multiple rib fractures, Micrognathia, Short neck, Long...	ORPHA:93299
Scarf Syndrome		Short sternum, Inguinal hernia, Craniosynostosis, Short neck, Long philtrum, Abnormal form of the...	ORPHA:3134
Progeroid Syndrome, Petty Type		Short distal phalanx of finger, Failure to thrive, Wide anterior fontanel, Tooth agenesis, Reduce...	ORPHA:2963
Apert Syndrome		Cleft palate, Craniosynostosis, Depressed nasal bridge, Cutaneous syndactyly, Brachyturricephaly,...	OMIM:101200
Cortical Blindness, Retardation, And Postaxial Polydactyly		Frontal bossing, Long philtrum, Short nose, Microretrognathia	OMIM:218010
Chondrodysplasia With Joint Dislocations, Gpapp Type		Short toe, Narrow mouth, Cleft palate, Short stature, Coronal craniosynostosis, Micrognathia, Bra...	OMIM:614078
Intellectual Developmental Disorder, Autosomal Recessive 61		High palate, Bulbous nose, Prominent fingertip pads, Dolichocephaly, Scoliosis, Tapered finger, L...	OMIM:617773
Cataract 21, Multiple Types		Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Microcornea	OMIM:610202
Acromicric Dysplasia		Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Narrow mouth, Joint stiffness...	ORPHA:969
Yemenite Deaf-Blind Hypopigmentation Syndrome		Iris coloboma, Microcornea, Chorioretinal coloboma	OMIM:601706
Cutaneous Telangiectasia And Cancer Syndrome, Familial		Enamel hypoplasia, Convex nasal ridge, Carious teeth	OMIM:614564
49,Xxxxy Syndrome		Cleft palate, Depressed nasal ridge, Depressed nasal bridge, Down-sloping shoulders, Short neck, ...	ORPHA:96264
Dyggve-Melchior-Clausen Syndrome, X-Linked		Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic sacrum, Short neck, Platyspondyly...	OMIM:304950
Craniolenticulosutural Dysplasia		High palate, Wide mouth, Premature loss of teeth, Short stature, Thin vermilion border, High ilia...	ORPHA:50814
48,Xxxy Syndrome		Cleft palate, Depressed nasal ridge, Down-sloping shoulders, Short neck, Delayed eruption of teet...	ORPHA:96263
Intellectual Developmental Disorder, X-Linked, Syndromic 12		Thick upper lip vermilion, Wide mouth, Postnatal growth retardation, Mandibular prognathia, Brach...	OMIM:309545
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome		Fibular metaphyseal irregularity, Short fourth metatarsal, Craniosynostosis, Abnormality of the d...	ORPHA:457395
Fibrochondrogenesis 1		Cleft palate, Depressed nasal bridge, Short neck, Platyspondyly, Rhizomelia, Short nose, Omphaloc...	OMIM:228520
Jackson-Weiss Syndrome		2-3 toe syndactyly, Short metatarsal, Convex nasal ridge, Split foot, Broad hallux phalanx, Symph...	ORPHA:1540
Multiple Pterygium Syndrome, Escobar Variant		High palate, Multiple joint contractures, Triangular mouth, Cleft palate, Down-sloping shoulders,...	OMIM:265000
48,Xxyy Syndrome		Clinodactyly of the 5th finger, Taurodontia, Cleft palate, Open bite, Inguinal hernia, Scoliosis,...	ORPHA:10
Beukes Hip Dysplasia		Flat capital femoral epiphysis, Wide proximal femoral metaphysis, Osteoarthritis, Shallow acetabu...	OMIM:142669
Osteopathia Striata-Cranial Sclerosis Syndrome		Cleft palate, Delayed eruption of teeth, Abnormal metaphysis morphology, Severe short stature, Hi...	ORPHA:2780
Renpenning Syndrome		Joint stiffness, Narrow mouth, Clinodactyly of the 5th finger, Severe short stature, High, narrow...	ORPHA:3242
Tricho-Dento-Osseous Syndrome		Taurodontia, Increased bone mineral density, Periapical tooth abscess, Dolichocephaly, Finger cli...	ORPHA:3352
Spondylometaphyseal Dysplasia, East African Type		Coxa vara, Disproportionate short-limb short stature, Metaphyseal spurs, Metaphyseal widening, Br...	OMIM:611702
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet		Broad phalanx, Bulbous nose, Micrognathia, Prominent metopic ridge, Bifid nose, Bifid nasal tip, ...	OMIM:275595
Metatropic Dysplasia		Kyphosis, Abnormal enchondral ossification, Halberd-shaped pelvis, Clinodactyly of the 5th finger...	ORPHA:2635
Brachytelephalangic Chondrodysplasia Punctata		Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Short nose, Hypoplasia of the maxilla,...	ORPHA:79345
Mental Retardation Syndrome, Belgian Type		Mandibular prognathia, Cleft ala nasi, Eunuchoid habitus, Wide nose	OMIM:249599
Weismann-Netter Syndrome		Kyphosis, Severe short stature, Calvarial hyperostosis, Horizontal sacrum, Scoliosis, Fibular bow...	OMIM:112350
Pfeiffer Syndrome		High palate, Clinodactyly of the 5th finger, Short stature, Short philtrum, Short neck, Synostosi...	ORPHA:710
Marfanoid Habitus With Microcephaly And Glomerulonephritis		High palate, Kyphosis, High, narrow palate, Arachnodactyly, Joint laxity, Glomerulonephritis, Man...	OMIM:248760
Grant Syndrome		Abnormal palate morphology, Joint dislocation, Open bite, Abnormality of the glenoid fossa, Micro...	ORPHA:2097
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome		Abnormal dental enamel morphology, Vertebral segmentation defect, Kyphosis, Clinodactyly of the 5...	ORPHA:1005
Pfeiffer Syndrome		High palate, Elbow ankylosis, Coronal craniosynostosis, Depressed nasal bridge, Brachyturricephal...	OMIM:101600
Sjogren-Larsson Syndrome		Enamel hypoplasia, Thoracic kyphosis, Flexion contracture, Short stature	OMIM:270200
Oligodontia		Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg...	ORPHA:99798
Pettigrew Syndrome		Wide mouth, Flexion contracture, Scoliosis, Prominent nose, Thick vermilion border, Mandibular pr...	OMIM:304340
Lethal Osteosclerotic Bone Dysplasia		Gingival overgrowth, Depressed nasal ridge, Retrognathia, Micrognathia, Delayed cranial suture cl...	ORPHA:1832
Junctional Epidermolysis Bullosa Inversa		Oral mucosal blisters, Carious teeth, Enamel hypoplasia, Atrophic scars, Gastrointestinal inflamm...	ORPHA:79405
Spondyloepimetaphyseal Dysplasia, Aggrecan Type		Lumbar hyperlordosis, Malar flattening, Metaphyseal widening, Short neck, Brachydactyly, Irregula...	OMIM:612813
Cenani-Lenz Syndrome		Hypoplasia of the radius, Short philtrum, Radioulnar synostosis, Hypoplasia of the ulna, Short no...	ORPHA:3258
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type		Abdominal obesity, Kyphosis, Wide mouth, Bulbous nose, Macroglossia, Short stature, Small hand, D...	OMIM:300354
Craniosynostosis, Herrmann-Opitz Type		Convex nasal ridge, Malar flattening, Cleft palate, Craniosynostosis, Micrognathia, Short stature...	ORPHA:2145
Phenobarbital Embryopathy		Malar flattening, Brachydactyly, Abnormal nasal base, Unilateral cleft lip, Mandibular prognathia...	ORPHA:1919
Hypomelanosis Of Ito		Epicanthus, Iris coloboma, Hypertelorism, Cataract	OMIM:300337
Intellectual Developmental Disorder, Autosomal Dominant 26		Kyphosis, Wide mouth, Clinodactyly of the 5th finger, Narrow mouth, Prominent nasal tip, Inguinal...	OMIM:615834
Aarskog-Scott Syndrome		Cleft palate, Abnormality of the dentition, Short neck, Delayed eruption of teeth, Hypoplasia of ...	ORPHA:915
Cutis Laxa, Autosomal Recessive, Type Iia		High palate, Failure to thrive, Wide anterior fontanel, Narrow mouth, Malar flattening, Inguinal ...	OMIM:219200
Vitamin D Hydroxylation-Deficient Rickets, Type 1B		Metaphyseal irregularity, Tibial bowing, Delayed epiphyseal ossification, Bowing of the legs, Fai...	OMIM:600081
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome		High palate, Arachnodactyly, Thoracic kyphosis, Joint laxity, Glomerulonephritis, Mandibular prog...	ORPHA:2172
Loeys-Dietz Syndrome 5		High palate, Reduced subcutaneous adipose tissue, Hiatus hernia, Cleft palate, Tented upper lip v...	OMIM:615582
Loose Anagen Syndrome		Iris coloboma	ORPHA:168
Carpenter Syndrome 1		High palate, Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasal bridge, Shor...	OMIM:201000
Momo Syndrome		High palate, Dental malocclusion, Taurodontia, Short sternum, Short neck, Long philtrum, Delayed ...	OMIM:157980
Multiple Epiphyseal Dysplasia Type 5		Joint stiffness, Multiple small vertebral fractures, Decreased hip abduction, Back pain, Osteoart...	ORPHA:93311
Mucolipidosis Iii Alpha/Beta		Irregular carpal bones, Soft tissue swelling of interphalangeal joints, Short ribs, Craniosynosto...	OMIM:252600
Geroderma Osteodysplasticum		Irregular vertebral endplates, Beaking of vertebral bodies, Tibial bowing, Kyphoscoliosis, Period...	OMIM:231070
Oculodentodigital Dysplasia		Cleft palate, Microdontia, Carious teeth, Selective tooth agenesis, Cleft upper lip, Thin antever...	OMIM:164200
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type		Overlapping toe, Malar flattening, Craniosynostosis, Short stature, Femoral bowing, Osteopenia, S...	OMIM:616723
Raynaud-Claes Syndrome		Mandibular prognathia, Scoliosis, Midface retrusion	OMIM:300114
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome		Failure to thrive, Recurrent otitis media, Prominent fingertip pads, Flexion contracture, Retrogn...	ORPHA:391372
Epidermolysis Bullosa, Junctional 1B, Severe		Failure to thrive, Syndactyly, Carious teeth, Enamel hypoplasia, Atrophic scars	OMIM:226700
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency		Dental malocclusion, Mandibular prognathia, High palate, Arthrogryposis multiplex congenita	OMIM:608931
Otopalatodigital Syndrome, Type I		Cleft palate, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Delayed closure of the ...	OMIM:311300
Bone Marrow Failure Syndrome 3		Failure to thrive, Metaphyseal dysplasia, Intrauterine growth retardation, Hypodontia, Reduced bo...	OMIM:617052
Amelogenesis Imperfecta, Hypomaturation Type, Iia2		Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology	OMIM:612529
Spondyloepimetaphyseal Dysplasia With Joint Laxity		High palate, Cleft palate, Platyspondyly, Ulnar deviation of finger, Abnormal epiphysis morpholog...	ORPHA:93359
Amelogenesis Imperfecta, Hypomaturation Type, Iia6		Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Deafness, Autosomal Recessive 108		Iris coloboma	OMIM:617654
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis		Peters anomaly, Iris coloboma, Ocular anterior segment dysgenesis, Coloboma	OMIM:610023
Amelogenesis Imperfecta, Type Iiia		Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion	OMIM:130900
Osteogenesis Imperfecta, Type X		Dentinogenesis imperfecta, Thin ribs, Malar flattening, Generalized joint laxity, Micrognathia, O...	OMIM:613848
Lessel-Kreienkamp Syndrome		Dental malocclusion, Plagiocephaly, Clinodactyly of the 5th finger, Wide cranial sutures, Frontal...	OMIM:619149
Familial Calcium Pyrophosphate Deposition		Joint swelling, Joint dislocation, Chondrocalcinosis, Osteoarthritis, Arthritis, Calcification of...	ORPHA:1416
Osteopathia Striata With Cranial Sclerosis		High palate, Cleft palate, Broad ribs, Delayed closure of the anterior fontanelle, Omphalocele, T...	OMIM:300373
Seckel Syndrome		Intrauterine growth retardation, Clinodactyly of the 5th finger, Tooth agenesis, Convex nasal rid...	ORPHA:808
Chst3-Related Skeletal Dysplasia		Enlarged joints, Kyphoscoliosis, Flexion contracture, Brachydactyly, Irregular epiphyses, Delayed...	ORPHA:263463
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency		High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Short neck, Short nose, Umbilical ...	ORPHA:369891
Cerebrooculofacioskeletal Syndrome 1		Delayed eruption of teeth, Carious teeth, Rocker bottom foot, Flexion contracture, Micrognathia, ...	OMIM:214150
Rhizomelic Chondrodysplasia Punctata, Type 1		Kyphoscoliosis, Severe short stature, Severe failure to thrive, Malar flattening, Cleft palate, M...	OMIM:215100
Gapo Syndrome		Abnormal palate morphology, Growth delay, Everted lower lip vermilion, Short stature, Micrognathi...	ORPHA:2067
Scarf Syndrome		Short sternum, Inguinal hernia, Coronal craniosynostosis, Short neck, Long philtrum, Abnormal for...	OMIM:312830
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies		Plagiocephaly, Clinodactyly of the 5th finger, Malar flattening, Depressed nasal ridge, Small han...	OMIM:618672
Acromesomelic Dysplasia 4		Broad phalanx, Platyspondyly, Broad finger, Genu valgum, Rhizomelia, Sandal gap, Umbilical hernia...	OMIM:619636
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type		Cleft palate, Osteopenia, Short neck, Platyspondyly, Short nose, Intrauterine growth retardation,...	OMIM:616897
Donnai-Barrow Syndrome		Depressed nasal bridge, Downslanted palpebral fissures, Iris coloboma, Short nose, Proptosis, Hyp...	ORPHA:2143
Schwartz-Jampel Syndrome		High palate, Pursed lips, Cleft palate, Abnormally ossified vertebrae, Short neck, Platyspondyly,...	ORPHA:800
Eng-Strom Syndrome		Short stature, Camptodactyly of finger, Brachydactyly, Scoliosis, Arthritis, Intrauterine growth ...	ORPHA:1937
Zimmermann-Laband Syndrome		High palate, Wide mouth, Bulbous nose, Supernumerary tooth, Hypodontia, Cleft palate, Macroglossi...	ORPHA:3473
Myofibrillar Myopathy 10		Kyphosis, Flexion contracture of finger, Sandal gap, Elbow flexion contracture, Knee flexion cont...	OMIM:619040
Amelogenesis Imperfecta, Hypomaturation Type, Iia3		Enamel hypomineralization, Amelogenesis imperfecta, Hypomature dental enamel	OMIM:613211
Lowry-Maclean Syndrome		Cleft palate, Craniosynostosis, Osteopenia, Short nose, Short nasal bridge, Hypoplasia of the max...	ORPHA:2409
Intellectual Developmental Disorder, Autosomal Recessive 41		High palate, Clinodactyly of the 5th finger, Prominent fingertip pads, Retrognathia, Broad nasal ...	OMIM:615637
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant		Kyphosis, Flexion contracture, Micrognathia, Overlapping fingers, Congenital hip dislocation, Sco...	OMIM:618291
Late-Onset Junctional Epidermolysis Bullosa		Enamel hypoplasia, Oral mucosal blisters, Carious teeth	ORPHA:79406
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome		Abnormal palate morphology, Kyphosis, Wide anterior fontanel, Wide mouth, Plagiocephaly, Malar fl...	ORPHA:85199
Smith-Magenis Syndrome		Velopharyngeal insufficiency, Malar flattening, Everted upper lip vermilion, Short stature, Abnor...	OMIM:182290
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome		Kyphosis, Cleft palate, Short philtrum, Prominent metopic ridge, Scoliosis, Mandibular prognathia	ORPHA:85317
Schneckenbecken Dysplasia		Cleft palate, Short neck, Platyspondyly, Short nose, Ovoid vertebral bodies, Umbilical hernia, Du...	OMIM:269250
Cranio-Osteoarthropathy		Joint swelling, Joint stiffness, Osteoarthritis, Eczema, Deviation of finger, Abnormality of tibi...	ORPHA:1525
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant		High palate, Recurrent fractures, Eczematoid dermatitis, Persistence of primary teeth, Skin rash,...	OMIM:147060
Osteopetrosis, Autosomal Recessive 2		Recurrent fractures, Mandibular osteomyelitis, Osteomyelitis, Diaphyseal sclerosis, Persistence o...	OMIM:259710
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome		High palate, Multiple joint contractures, Slender long bones with narrow diaphyses, Craniosynosto...	ORPHA:536467
Spondylocostal Dysostosis 3, Autosomal Recessive		Vertebral segmentation defect, Kyphosis, Contracture of the proximal interphalangeal joint of the...	OMIM:609813
Peripheral Dysostosis		Joint stiffness, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly of the 5th fing...	ORPHA:1795
Lowry-Maclean Syndrome		Convex nasal ridge, Cleft palate, Craniosynostosis, Delayed eruption of teeth, Intrauterine growt...	OMIM:600252
Kohlschutter-Tonz Syndrome-Like		Intrauterine growth retardation, 2-3 toe syndactyly, Decreased body weight, Small hand, Scoliosis...	OMIM:619229
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type		Irregular vertebral endplates, Lumbar hyperlordosis, Platyspondyly, Scoliosis, Genu varum, Dispro...	OMIM:609223
Metaphyseal Chondrodysplasia, Schmid Type		Femoral bowing, Platyspondyly, Short long bone, Metaphyseal cupping of proximal phalanges, Metaph...	ORPHA:174
Temtamy Syndrome		Convex nasal ridge, Lens luxation, Downslanted palpebral fissures, Iris coloboma, Hypertelorism, ...	OMIM:218340
Odontochondrodysplasia 2 With Hearing Loss And Diabetes		Premature loss of teeth, Short toe, Cone-shaped epiphyses of the phalanges of the hand, Clinodact...	OMIM:619269
Spondylometaphyseal Dysplasia, X-Linked		Enlarged joints, Kyphosis, Sclerosis of skull base, Hip contracture, Severe short stature, Hypere...	OMIM:313420
Spastic Paraplegia 50, Autosomal Recessive		High palate, Wide mouth, Bulbous nose, Adducted thumb, Short philtrum, Mandibular prognathia, Wid...	OMIM:612936
Craniosynostosis And Dental Anomalies		High palate, Depressed nasal bridge, Delayed eruption of teeth, Broad hallux, Sagittal craniosyno...	OMIM:614188
Crouzon Syndrome		Convex nasal ridge, Iris coloboma, Proptosis, Choanal atresia, Hypertelorism, Conjunctivitis, Ptosis	ORPHA:207
Amelogenesis Imperfecta, Hypomaturation Type, Iia4		Enamel hypoplasia, Enamel hypomineralization, Amelogenesis imperfecta	OMIM:614832
Robinow Syndrome		Triangular mouth, Broad alveolar ridges, Hemivertebrae, Broad nasal tip, Depressed nasal bridge, ...	ORPHA:97360
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome		Cone-shaped epiphyses of the toes, Cone-shaped epiphyses of the 4th toe, Atopic dermatitis, Cone-...	ORPHA:397973
Congenital Hydrocephalus		Downslanted palpebral fissures, Iris coloboma, Bulbous nose	ORPHA:2185
Progressive Osseous Heteroplasia		Ectopic ossification in muscle tissue, Osteoarthritis, Brachydactyly, Limitation of joint mobility	ORPHA:2762
Intermediate Generalized Junctional Epidermolysis Bullosa		Oral mucosal blisters, Enamel hypoplasia, Atrophic scars, Growth delay, Scarring alopecia of scalp	ORPHA:79402
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome		Broad nasal tip, Carious teeth, Enamel hypoplasia, Hepatitis, Thick vermilion border	ORPHA:363523
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies		Cone-shaped epiphysis, Atopic dermatitis, Hallux valgus, Dental crowding, Mandibular prognathia, ...	OMIM:606772
Gm1 Gangliosidosis		Depressed nasal ridge, Broad nasal tip, Depressed nasal bridge, Platyspondyly, Abnormal epiphysis...	ORPHA:354
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2		High palate, Retrognathia, Depressed nasal bridge, Short nose, Pneumonia, Anteverted nares, Growt...	OMIM:614069
Amelogenesis Imperfecta, Hypomaturation Type, Iia5		Amelogenesis imperfecta, Carious teeth	OMIM:615887
Myopathy, Myofibrillar, 8		High palate, Dental malocclusion, Spinal rigidity, Micrognathia, Scoliosis, Joint contracture of ...	OMIM:617258
Ectodermal Dysplasia-Syndactyly Syndrome 2		Enamel hypoplasia, Thin upper lip vermilion, Syndactyly	OMIM:613576
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy		Mandibular prognathia, Recurrent aspiration pneumonia, Osteoporosis	OMIM:619971
Simpson-Golabi-Behmel Syndrome, Type 2		High palate, Wide mouth, Cleft palate, Congenital hip dislocation, Short neck, Tapered finger, Sh...	OMIM:300209
Lujan-Fryns Syndrome		High palate, Arachnodactyly, Micrognathia, Camptodactyly of finger, Abnormality of the dentition,...	ORPHA:776
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type		Bulbous nose, Cleft palate, Short philtrum, Short neck, Thin bony cortex, Mandibular prognathia, ...	OMIM:309583
Chondrodysplasia Punctata, Tibia-Metacarpal Type		Malar flattening, Depressed nasal ridge, Short tibia, Short 3rd metacarpal, Short 2nd metacarpal,...	OMIM:118651
Mmep Syndrome		Split foot, Oral cleft, Triphalangeal thumb, Median cleft lip, Mandibular prognathia	ORPHA:3434
Robinow Syndrome, Autosomal Dominant 3		Triangular mouth, Cleft palate, Depressed nasal bridge, Short neck, Short nose, Omphalocele, Midf...	OMIM:616894
Hereditary Neuropathy With Liability To Pressure Palsies		Scoliosis, Vocal cord paralysis	ORPHA:640
Pseudodiastrophic Dysplasia		Failure to thrive, Brachycephaly, Lumbar hyperlordosis, Severe short stature, Malar flattening, M...	OMIM:264180
Odontotrichoungual-Digital-Palmar Syndrome		Short distal phalanx of finger, Dental malocclusion, Short distal phalanx of toe, Short 1st metac...	OMIM:601957
Achondroplasia		Depressed nasal bridge, Rhizomelia, Short nasal bridge, Short long bone, Spinal canal stenosis, P...	ORPHA:15
Camptodactyly Syndrome, Guadalajara, Type I		High palate, Horizontal sacrum, Depressed nasal bridge, Short nose, Twelfth rib hypoplasia, Intra...	OMIM:211910
Frontofacionasal Dysplasia		Ankyloblepharon, Absent inner eyelashes, S-shaped palpebral fissures, Microcornea, Bifid nose, Te...	OMIM:229400
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis		Hypoplastic sacrum, Abnormality of the dentition, Cone-shaped epiphysis, Osteopenia, Broad nasal ...	OMIM:614813
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities		Wide mouth, Everted lower lip vermilion, Retrognathia, Short stature, Long philtrum, Joint hyperm...	OMIM:619595
Oculodentodigital Dysplasia		Cleft palate, Carious teeth, Short nose, Umbilical hernia, Mandibular prognathia, Abnormal metaph...	ORPHA:2710
3P25.3 Microdeletion Syndrome		Cleft palate, Depressed nasal bridge, 2-3 finger syndactyly, Short philtrum, Tapered finger, Broa...	ORPHA:435638
Teebi Hypertelorism Syndrome 2		High palate, Wide anterior fontanel, Clinodactyly of the 5th finger, Cleft palate, Everted lower ...	OMIM:619736
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation		Thick upper lip vermilion, Cleft palate, Abnormality of the dentition, Short philtrum, Mandibular...	OMIM:226440
Intellectual Developmental Disorder, X-Linked 58		Dental malocclusion, Short philtrum	OMIM:300210
Ectodermal Dysplasia/Short Stature Syndrome		Enamel hypoplasia, Hypodontia, Short stature	OMIM:616029
Spondyloepiphyseal Dysplasia, Stanescu Type		Beaking of vertebral bodies, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Platyspondyly, Tr...	OMIM:616583
Spondyloepiphyseal Dysplasia Tarda, X-Linked		Coxa vara, Kyphosis, Lumbar hyperlordosis, Hump-shaped mound of bone in central and posterior por...	OMIM:313400
Femoral-Facial Syndrome		Cleft palate, Radioulnar synostosis, Abnormality of fibula morphology, Short nose, Vertebral segm...	ORPHA:1988
Distal Trisomy 18Q		High palate, Clinodactyly of the 5th finger, Arachnodactyly, Micrognathia, Camptodactyly of finge...	ORPHA:1716
Intellectual Developmental Disorder, Autosomal Recessive 45		Bulbous nose, Deeply set eye, Thick eyebrow, Upslanted palpebral fissure, Downslanted palpebral f...	OMIM:615979
Scheie Syndrome		Spondylolisthesis, Depressed nasal bridge, Short neck, Genu valgum, Wide nose, Mandibular prognathia	OMIM:607016
Developmental Dysplasia Of The Hip 2		Hip osteoarthritis, Coxa valga, Hip dysplasia, Arthritis	OMIM:615612
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome		Malar flattening, Craniosynostosis, Thin vermilion border, Micrognathia, Depressed nasal bridge, ...	ORPHA:171839
Microphthalmia, Isolated, With Coloboma 9		Microcornea, Iris coloboma, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Hyperte...	OMIM:615145
Anauxetic Dysplasia 3		Femoral bowing, Depressed nasal bridge, Platyspondyly, Genu valgum, Hip subluxation, Midface retr...	OMIM:618853
Kohlschutter-Tonz Syndrome		Enamel hypoplasia, Amelogenesis imperfecta	OMIM:226750
Malan Syndrome		Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Scoliosis, Advanced...	OMIM:614753
Osteoarthritis Susceptibility 3		Osteoarthritis of the distal interphalangeal joint, Joint stiffness, Osteoarthritis, Osteoarthrit...	OMIM:607850
Fanconi Anemia, Complementation Group S		Thick upper lip vermilion, Dental malocclusion, Failure to thrive, Narrow palate, Short stature, ...	OMIM:617883
Acrocraniofacial Dysostosis		Oxycephaly, Cleft palate, Craniosynostosis, Short stature, Short 1st metacarpal, Micrognathia, Ab...	OMIM:201050
Intellectual Developmental Disorder, Autosomal Dominant 23		Kyphosis, Bulbous nose, Brachycephaly, Postaxial polydactyly, Micrognathia, Depressed nasal bridg...	OMIM:615761
Familial Avascular Necrosis Of Femoral Head		Hip osteoarthritis, Flattened femoral head, Abnormal femoral neck/head morphology, Limited hip mo...	ORPHA:86820
Achondrogenesis		Severe short stature, Inguinal hernia, Micrognathia, Short neck, Long philtrum, Abnormality of bo...	ORPHA:932
Intellectual Developmental Disorder, X-Linked, Syndromic 14		Slender build, Kyphosis, High palate, Scoliosis, Hypoplasia of the maxilla, Mandibular prognathia...	OMIM:300676
Burn-Mckeown Syndrome		Short palpebral fissure, Bilateral choanal atresia, Short nose, Hypertelorism, Prominent nasal br...	ORPHA:1200
Osteogenesis Imperfecta, Type I		Otosclerosis, Recurrent fractures, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Femo...	OMIM:166200
Goldberg-Shprintzen Megacolon Syndrome		Sparse eyebrow, Iris coloboma, Hypertelorism, Wide nasal bridge, Ptosis	ORPHA:66629
Harel-Yoon Syndrome		Micrognathia, Scoliosis, Frontal bossing, Short nose, Mandibular prognathia, Hip dysplasia	OMIM:617183
Cranioectodermal Dysplasia 1		High palate, Microdontia, Sagittal craniosynostosis, Rhizomelia, Scaphocephaly, Short distal phal...	OMIM:218330
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type		Laryngotracheomalacia, Delayed ossification of carpal bones, Abnormally ossified vertebrae, Gloss...	ORPHA:93346
Alg2-Cdg		Downslanted palpebral fissures, Epicanthus, Iris coloboma, Cataract, Wide nasal bridge	ORPHA:79326
Crouzon Syndrome-Acanthosis Nigricans Syndrome		Abnormal palate morphology, Convex nasal ridge, Malar flattening, Brachydactyly, Abnormal form of...	ORPHA:93262
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies		High, narrow palate, Swan neck-like deformities of the fingers, Everted lower lip vermilion, Low ...	OMIM:619880
Trichodysplasia-Amelogenesis Imperfecta Syndrome		Amelogenesis imperfecta	ORPHA:79129
Horizontal Gaze Palsy With Progressive Scoliosis		Kyphosis, Short neck, Scoliosis	ORPHA:2744
Gm1-Gangliosidosis, Type Iii		Kyphosis, Short stature, Anterior beaking of lumbar vertebrae, Platyspondyly, Scoliosis, Hypoplas...	OMIM:230650
Fibrochondrogenesis 2		Metaphyseal cupping, Malar flattening, Short ribs, Hypoplastic ilia, Metaphyseal widening, Microg...	OMIM:614524
Intellectual Developmental Disorder, Autosomal Recessive 48		Small hand, Mandibular prognathia, Long philtrum	OMIM:616269
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive		Dolichocephaly, Pointed chin, Patellar subluxation, Scaphocephaly, Mandibular prognathia	OMIM:248000
Progeria-Short Stature-Pigmented Nevi Syndrome		Short distal phalanx of finger, Dental malocclusion, Multiple joint contractures, Thoracic scolio...	ORPHA:2959
Marshall-Smith Syndrome		Failure to thrive, Gingival overgrowth, Craniosynostosis, Retrognathia, Reduced bone mineral dens...	ORPHA:561
Faciocardiomelic Syndrome		Dental malocclusion, Wide mouth, Micrognathia, Hyperplasia of the maxilla, Osteopenia, Long philt...	OMIM:612731
Biemond Syndrome Ii		Iris coloboma	OMIM:210350
Amelogenesis Imperfecta, Type Iiib		Enamel hypomineralization, Amelogenesis imperfecta	OMIM:617607
Intellectual Developmental Disorder, Autosomal Dominant 1		Wide mouth, Bulbous nose, Depressed nasal ridge, Hemivertebrae, Microdontia, Short nose, Sandal g...	OMIM:156200
Acrocallosal Syndrome		High palate, Wide mouth, Triangular mouth, Cleft palate, Short philtrum, Tapered finger, Short no...	OMIM:200990
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus		Enamel hypoplasia, Severe short stature	OMIM:202900
Baraitser-Winter Syndrome 1		Long palpebral fissure, Epicanthus, Iris coloboma, Short nose, Anteverted nares, Hypertelorism, H...	OMIM:243310
Dysplasia Epiphysealis Hemimelica		Flattened femoral head, Abnormality of femur morphology, Joint stiffness, Abnormal femoral neck m...	ORPHA:1822
Whistling Face Syndrome, Recessive Form		High palate, Kyphoscoliosis, Narrow mouth, Malar flattening, Inguinal hernia, Micrognathia, Short...	OMIM:277720
Fetal Akinesia Deformation Sequence 4		High palate, Kyphosis, Flexion contracture, Retrognathia, Micrognathia, Short neck, Camptodactyly...	OMIM:618393
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers		Kyphosis, Anodontia, Everted lower lip vermilion, Short stature, Oligodontia, Scoliosis, Tapered ...	ORPHA:276630
X-Linked Intellectual Disability, Sutherland-Haan Type		Decreased body weight, Short stature, Small for gestational age, Hypoplasia of the maxilla, Mandi...	ORPHA:93950
Orofaciodigital Syndrome Type 5		Accessory oral frenulum, Supernumerary tooth, High, narrow palate, Ectopic accessory finger-like ...	ORPHA:2919
Mandibuloacral Dysplasia With Type B Lipodystrophy		High palate, Acroosteolysis of distal phalanges (feet), Short nose, Hypoplasia of teeth, Loss of ...	OMIM:608612
Carabelli Anomaly Of Maxillary Molar Teeth		Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors	OMIM:114700
Osteomesopyknosis		Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies	ORPHA:2777
Neuropathy, Hereditary Motor And Sensory, Russe Type		Scoliosis, Paralysis	OMIM:605285
Coffin-Lowry Syndrome		High palate, Wide mouth, Depressed nasal bridge, Broad finger, Delayed eruption of teeth, Tapered...	ORPHA:192
Urban-Rogers-Meyer Syndrome		Kyphosis, Recurrent fractures, Clinodactyly of the 5th finger, Short stature, Micrognathia, Campt...	ORPHA:3409
Spondyloenchondrodysplasia		Short distal phalanx of finger, Bowing of the legs, Metaphyseal dysplasia, Dental malocclusion, K...	ORPHA:1855
Autosomal Recessive Hypophosphatemic Rickets		Craniosynostosis, Delayed eruption of teeth, Polyarticular arthritis, Sclerotic vertebral endplat...	ORPHA:289176
Xp22.13P22.2 Duplication Syndrome		High palate, Flared nostrils, 2-3 toe syndactyly, Congenital diaphragmatic hernia, Short stature,...	ORPHA:284180
Blepharoptosis-Myopia-Ectopia Lentis Syndrome		Iris coloboma, Palpebral edema, Ectopia lentis, Ptosis	ORPHA:1259
Laryngeal Adductor Paralysis		Paralysis	OMIM:150270
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia		Enamel hypoplasia, Amelogenesis imperfecta	OMIM:603641
Ohdo Syndrome	<

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