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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by 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.

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

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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