Registered for phenotyping at IMPC

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

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
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Genu valgum, Micrognathia, Hip contracture, Flattened epiphysis, High palate, Adva... OMIM:618363
Hall-Riggs Syndrome
Platyspondyly, Depressed nasal bridge, Kyphosis, Failure to thrive, Thick lower lip vermilion, Pr... OMIM:234250
Pyle Disease
Platyspondyly, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of... OMIM:265900
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Severe short stature, Carious teeth, Generalized hypoplasia of dental enamel, Cutaneous finger sy... OMIM:203550
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Short neck, Flattened e... OMIM:251450
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Hip osteoarthritis, Depressed nasal bridge, Broad hallux, Short thumb, Frontal bossing, Premature... OMIM:165800
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Flattened epiphysis, High palate, Dislocated radial head, Short me... OMIM:612350
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor... ORPHA:2790
Membranous Cranial Ossification, Delayed
Depressed nasal bridge, Hypertelorism, Downslanted palpebral fissures OMIM:155980
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Delayed epiphyseal ossification, Hip osteoarthritis, Severe short stature, ... OMIM:132400
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Osteopenia, Joint subluxation, Contracture of the proximal interphalangeal joint of the 2nd finge... OMIM:130060
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip osteoarthritis, Abnormal epiphysis morphology, Short 1st metacarpal, Delayed eruption of teet... ORPHA:63442
Alpha-Mannosidosis
Synostosis of joints, Craniofacial hyperostosis, Depressed nasal bridge, Scoliosis, Dental malocc... ORPHA:61
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Abnormal joint... ORPHA:1427
Familial Intestinal Malrotation
Depressed nasal bridge, Long palpebral fissure, Anteverted nares, Hypertelorism ORPHA:508410
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Epiphyseal dysplasia, Platyspondyly, Depressed nasal bridge, Premature osteoarthritis, Anteverted... OMIM:184840
Delayed Membranous Cranial Ossification
Depressed nasal ridge, Upslanted palpebral fissure, Hypertelorism ORPHA:3034
Hip Dysplasia, Beukes Type
Broad femoral neck, Abnormal epiphysis morphology, Abnormality of the epiphysis of the femoral he... ORPHA:2114
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Hip osteoarthritis, Joint subluxation, Abnormality of the ankle, Osteoarthritis of... ORPHA:2619
Larsen-Like Syndrome
Dental malocclusion, Joint dislocation, Recurrent otitis media, Radial deviation of the 4th finge... OMIM:608545
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Carious teeth, Fibular bowing, Flat occiput, Rickets, Bulging of... OMIM:277440
Pycnodysostosis
Small hand, Carious teeth, Delayed cranial suture closure, Hypoplastic iliac wing, Micrognathia, ... ORPHA:763
Craniodiaphyseal Dysplasia, Autosomal Dominant
Wide nasal bridge, Craniofacial hyperostosis, Depressed nasal bridge, Craniofacial osteosclerosis... OMIM:122860
Craniometadiaphyseal Dysplasia
Carious teeth, Natal tooth, Absent paranasal sinuses, Broad long bones, Genu valgum, High palate,... OMIM:269300
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Limited hip movement, Dysplasia of the femoral head, Hip contracture, Disproportionate short-trun... ORPHA:99642
Pseudoachondroplasia
Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra... OMIM:177170
Epiphyseal Dysplasia, Multiple, 2
Epiphyseal dysplasia, Tibial torsion, Irregular epiphyses, Tooth agenesis, Small epiphyses, Osteo... OMIM:600204
Bifid Nose
Bifid nose, Hypertelorism ORPHA:2695
Osteogenesis Imperfecta, Type Iii
Thin ribs, Dentinogenesis imperfecta, Wide anterior fontanel, Neonatal short-limb short stature, ... OMIM:259420
Albers-Schönberg Osteopetrosis
Short distal phalanx of finger, Abnormality of the dentition, Carious teeth, Abnormal epiphysis m... ORPHA:53
Pseudopseudohypoparathyroidism
Depressed nasal bridge, Delayed eruption of teeth, Obesity, Short neck, Enamel hypoplasia, Brachy... OMIM:612463
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Pat... OMIM:155050
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob... ORPHA:93284
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Abnormal trabecular bone morphology, Periapical bone loss, Mandibul... ORPHA:83451
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Fibular bowing, Flat occiput, Rickets, Bulging of the costochond... OMIM:264700
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Short toe, Downturned corners o... ORPHA:1327
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Multiple enchondromatosis, Genu valgum, Metaphys... ORPHA:85198
Acrodysostosis
Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol... ORPHA:950
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet... ORPHA:163649
Multiple Epiphyseal Dysplasia, Beighton Type
Limitation of joint mobility, Genu valgum, Intervertebral space narrowing, Reduced proximal inter... ORPHA:166011
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Abnormal epiphysis morphology, Long philtrum, Abnormal ... ORPHA:90653
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Epiphyseal dysplasia, Premature osteoarthritis, Micrognathia, Beaking of vertebral bodies, Pierre... OMIM:215150
Three M Syndrome 1
Postnatal growth retardation, Short neck, Hip dislocation, Short 5th finger, Pointed chin, Joint ... OMIM:273750
Multiple Epiphyseal Dysplasia Type 1
Delayed epiphyseal ossification, Disproportionate short stature, Arthralgia of the hip, Limitatio... ORPHA:93308
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Wide nasal bridge, Underdeveloped nasal alae, Telecanthus, Cleft ala nasi, Convex nasal ridge, Hy... ORPHA:2007
Frontofacionasal Dysplasia
Cataract, Microcornea, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal b... ORPHA:1791
Epiphyseal Dysplasia, Multiple, 6
Arthralgia of the hip, Schmorl's node, Irregular epiphyses, Small epiphyses, Flat distal femoral ... OMIM:614135
Three M Syndrome 2
Thin ribs, Clinodactyly, Short neck, Prominent nasal tip, High palate, Short 5th finger, Pointed ... OMIM:612921
Trichorhinophalangeal Syndrome, Type I
Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Pear-shap... OMIM:190350
Frank-Ter Haar Syndrome
Abnormal metacarpal morphology, Beaking of vertebral bodies, Mandibular prognathia, Inguinal hern... ORPHA:137834
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Short chin, Postnatal growth retardation, Long nose, Pierre-Robin sequence, Pointed chin, Bicoron... OMIM:619184
Mulibrey Nanism
Wide nasal bridge, Depressed nasal bridge, Microglossia, Dental malocclusion, Dental crowding, Gr... OMIM:253250
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Short distal phalanx of finger, Abnormality of the dentition, Dental malocclusion, Hypoplastic il... ORPHA:1858
Congenital Disorder Of Glycosylation, Type Iik
Epiphyseal dysplasia, Failure to thrive, Malar flattening, Kyphoscoliosis, Joint hypermobility, A... OMIM:614727
Cleidocranial Dysplasia
Hypoplastic scapulae, Carious teeth, Dimple chin, Open bite, Genu valgum, Micrognathia, Decreased... ORPHA:1452
Laron Syndrome
Severe short stature, Depressed nasal ridge, Hypoplastic nasal bridge, Delayed eruption of teeth,... ORPHA:633
Parastremmatic Dwarfism
Severe short stature, Genu valgum, Short neck, Scoliosis, Kyphosis OMIM:168400
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short nec... OMIM:253000
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Flared metaphysis, ... OMIM:156510
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Synostosis of carpal bones, Abnormal epiphysis morphology, Abnormal rib morphology... ORPHA:93351
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Delayed cranial suture closure, Abnormal metacarpal morphology, Abnormal finger morphology, Flat ... ORPHA:2511
Osteogenesis Imperfecta, Type Xii
Generalized osteoporosis, Dentinogenesis imperfecta, Hypermobility of interphalangeal joints, Dep... OMIM:613849
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, S... OMIM:307800
Craniosynostosis 3
Dental malocclusion, Bicoronal synostosis, Hallux valgus, Sagittal craniosynostosis, Brachydactyl... OMIM:615314
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Clark-Baraitser syndrome
Genu recurvatum, Broad nasal tip, Exaggerated median tongue furrow, Thick lower lip vermilion, Fr... OMIM:300602
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Metatarsal diaphyseal endosteal sclerosis, Abnormal pelvic girdle bone ... OMIM:144750
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Depressed nasal... ORPHA:1248
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Depressed nasal bridge, Cone-shaped epiphysis, Square p... ORPHA:166272
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Dentinogenesis imperfecta, Cone-shaped epiphysis, Delayed eruption of teeth, Promi... ORPHA:71267
Mueller-Weiss Syndrome
Joint subluxation, Tibiofibular diastasis, Tibial torsion, Abnormality of the os naviculare pedis... ORPHA:566943
Mcdonough Syndrome
Dental malocclusion, Underdeveloped nasal alae, Open bite, Prominent nose, Micrognathia, Abnormal... ORPHA:2471
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla... OMIM:208230
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Osteogenesis Imperfecta, Type V
Platyspondyly, Dentinogenesis imperfecta, Abnormal pelvic girdle bone morphology, Osteopenia, Ver... OMIM:610967
Cranioectodermal Dysplasia
Short distal phalanx of finger, Abnormality of the dentition, Rhizomelia, Finger syndactyly, Abno... ORPHA:1515
Epiphyseal Dysplasia, Multiple, 3
Epiphyseal dysplasia, Delayed epiphyseal ossification, Irregular epiphyses, Small epiphyses, Abno... OMIM:600969
Muenke Syndrome
Coronal craniosynostosis, Broad thumb, Dental malocclusion, Clinodactyly, Short middle phalanx of... OMIM:602849
Pde4D Haploinsufficiency Syndrome
Postnatal growth retardation, Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa va... ORPHA:439822
Acrodysostosis 1 With Or Without Hormone Resistance
Long hallux, Narrow vertebral interpedicular distance, Calvarial hyperostosis, Dislocated radial ... OMIM:101800
48,Xyyy Syndrome
Depressed nasal bridge, Recurrent upper respiratory tract infections, Long philtrum, Thick lower ... ORPHA:99329
Hypochondroplasia
Abnormal pelvic girdle bone morphology, Short toe, Abnormal form of the vertebral bodies, Spinal ... ORPHA:429
Seckel Syndrome 1
Ivory epiphyses, Postnatal growth retardation, Micrognathia, High palate, Dislocated radial head,... OMIM:210600
Intermediate Osteopetrosis
Abnormality of the dentition, Erlenmeyer flask deformity of the femurs, Dental malocclusion, Sand... ORPHA:210110
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Premature osteoarthritis, Genu valgum, Abn... ORPHA:93360
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Metaphyseal Chondrodysplasia, Spahr Type
Abnormality of the dentition, Carious teeth, Abnormal epiphysis morphology, Scoliosis, Disproport... ORPHA:2501
Craniometaphyseal Dysplasia, Autosomal Dominant
Tooth malposition, Abnormal pelvic girdle bone morphology, Erlenmeyer flask deformity of the femu... OMIM:123000
Intellectual Disability And Myopathy Syndrome
Congenital hip dislocation, Atopic dermatitis, Scoliosis, Dental malocclusion, Broad nasal tip, L... OMIM:619719
Oculoskeletodental Syndrome
Short 5th finger, Abnormality of the dentition, Wide nasal bridge, Depressed nasal bridge, Clinod... ORPHA:557003
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Ankle clonus, Babinski sign, Lower limb spasticity, Scoliosis, Kyphosis, Uppe... OMIM:611225
Dysostosis, Stanescu Type
Carious teeth, Bowing of the long bones, Short neck, Hypoplasia of the maxilla, Narrow nasal brid... ORPHA:1798
Blepharophimosis-Impaired Intellectual Development Syndrome
Dimple chin, Wide nose, Plagiocephaly, Thin upper lip vermilion, Clinodactyly of the 5th finger, ... OMIM:619293
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal u... ORPHA:3416
Mucopolysaccharidosis Type 4
Carious teeth, Genu valgum, Bowing of the long bones, Hernia, Short neck, Joint dislocation, Abno... ORPHA:582
Intellectual Disability, Buenos-Aires Type
Wide nasal bridge, Abnormal calvaria morphology, Abnormal pelvic girdle bone morphology, Cuboid-s... ORPHA:3079
Trismus-Pseudocamptodactyly Syndrome
Limitation of joint mobility, Short stature, Mandibular prognathia, Hip dislocation, Symphalangis... ORPHA:3377
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Disproportionate short-limb short stature, Recurrent fr... OMIM:259440
Frontometaphyseal Dysplasia 1
Broad phalanges of the hand, Short chin, Partial fusion of carpals, Carpal synostosis, Genu valgu... OMIM:305620
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Premature osteoarthr... ORPHA:93307
17Q21.31 Microduplication Syndrome
Abnormality of the dentition, Toe syndactyly, Sandal gap, Failure to thrive, Anteverted nares, Mi... ORPHA:217340
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Pointed chin, Dental malocclusion, Anteverted nares, Long fingers, High palate, Mandibular progna... OMIM:618292
Pseudohypoparathyroidism, Type Ia
Depressed nasal bridge, Short toe, Delayed eruption of teeth, Short finger, Obesity, Thickened ca... OMIM:103580
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Short nose, Oligodontia, Thin upper l... OMIM:616331
Stickler Syndrome, Type I
Micrognathia, Arachnodactyly, Beaking of vertebral bodies, Pierre-Robin sequence, Abnormal femora... OMIM:108300
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ... OMIM:604864
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Osteomalacia, Postnatal growth retardation, Genu varum, Flat occ... ORPHA:289157
3M Syndrome
Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,... ORPHA:2616
Rubinstein-Taybi Syndrome 2
Narrow palate, Broad thumb, Carious teeth, Prominent fingertip pads, Short 5th toe, Broad hallux,... OMIM:613684
Osteogenesis Imperfecta, Type Xxii
Dentinogenesis imperfecta, Multiple small vertebral fractures, Slender long bone, Intrauterine gr... OMIM:619795
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Mucopolysaccharidosis, Type Ivb
Constricted iliac wing, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Dispropor... OMIM:253010
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Lumbar hyperlordos... OMIM:271650
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral bodies, Intrauterine growt... ORPHA:2370
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... ORPHA:166277
Leukodystrophy, Hypomyelinating, 17
Growth delay, Widely spaced teeth, Anteverted nares, Gingival overgrowth, Kyphoscoliosis, Thick v... OMIM:618006
Microcephalic Primordial Dwarfism, Toriello Type
Severe short stature, Abnormal epiphysis morphology, Downturned corners of mouth, Intrauterine gr... ORPHA:2643
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Micrognathia, Narrow mouth, Intervertebral space narrowing, Radial head subluxation,... OMIM:614078
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Cone-shaped epiphysis, Spinal canal stenosis, Obesity, Anteverted nares, ... OMIM:614613
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Seckel Syndrome 5
Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Micrognathia, Prominent nasal bridge, O... OMIM:613823
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Prominent nose, Kyphoscoliosis, Hallux valgus, Short stature OMIM:615541
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Nasal polyposis, Hypertelorism, Iris coloboma, Downslanted palpebral fissures OMIM:155145
Rhizomelic Syndrome, Urbach Type
Limitation of joint mobility, Micrognathia, Short neck, Abnormality of the knee, Abnormality of t... ORPHA:3098
Trigonocephaly 2
Wide nasal bridge, Depressed nasal bridge, Hypertelorism, Downslanted palpebral fissures OMIM:614485
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormal pelvic girdle bone morphology, Mandibular osteomyelitis, Fractures o... OMIM:166600
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Small hand, Broad long bones, Micrognathia, Narrow mout... OMIM:257850
Osteogenesis Imperfecta, Type Xix
Severe short stature, Dentinogenesis imperfecta, Osteopenia, Rhizomelia, Vertebral wedging, Bowin... OMIM:301014
Frank-Ter Haar Syndrome
Delayed cranial suture closure, Micrognathia, Anterior concavity of thoracic vertebrae, Bowing of... OMIM:249420
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Wide nasal bridge, Depressed nasal bridge, Sandal gap, Abnormal form of the vertebral bodies, Abn... ORPHA:2180
Momo Syndrome
Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v... ORPHA:2563
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2
Broad thumb, Thoracic hemivertebrae, Genu valgum, Arachnodactyly, Plagiocephaly, Prominent finger... OMIM:619721
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly, High palate,... OMIM:182212
Van Maldergem Syndrome 1
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, Radial head subluxa... OMIM:601390
Kahrizi Syndrome
Wide nasal bridge, Cataract, Iris coloboma, Bulbous nose OMIM:612713
Familial Scaphocephaly Syndrome, Mcgillivray Type
Toe syndactyly, Open bite, Trigonocephaly, Dolichocephaly, High palate, Mandibular prognathia, Br... ORPHA:168624
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Abnormality of the ankle, Arthralgia of the hip, Abnor... ORPHA:166002
Ehlers-Danlos Syndrome, Classic-Like, 2
Cellulitis, Micrognathia, Ventral hernia, Short neck, High palate, Hip dislocation, Osteopenia, A... OMIM:618000
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Dispropo... OMIM:156530
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Osteopenia, Frontal bossing, Bulbous nose, Postnatal growth retardation, Joint hypermobility, 2-3... ORPHA:2324
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Small hand, Broad thumb, Postnatal growth retardation, Micrognathia, Narrow mouth, Short neck, Ab... ORPHA:251028
Pai Syndrome
Depressed nasal bridge, Nasal polyposis, Downslanted palpebral fissures, Telecanthus, Midline def... ORPHA:1993
Filippi Syndrome
Wide nasal bridge, 2-4 toe syndactyly, Finger clinodactyly, Underdeveloped nasal alae, Serrated i... OMIM:272440
Aredyld Syndrome
Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Mandibular prognathia, Abnorma... ORPHA:1133
Dermatoosteolysis, Kirghizian Type
Abnormality of the dentition, Keratitis, Abnormal diaphysis morphology, Abnormality of the wrist,... ORPHA:1657
Osteogenesis Imperfecta, Type Viii
Thin ribs, Radial bowing, Decreased skull ossification, Multiple prenatal fractures, Short metaca... OMIM:610915
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal form of the vertebral bodies, Frontal bossing, Abnormal denta... ORPHA:2050
Potocki-Lupski Syndrome
Mandibular prognathia, Dental malocclusion, Dental crowding, Failure to thrive, Trigonocephaly, M... OMIM:610883
Eiken Syndrome
Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, High iliac ... ORPHA:79106
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Malar flattening, Abnormal metacarpal morphology, Osteoarthritis, Gl... ORPHA:166100
Anauxetic Dysplasia 1
Atlantoaxial dislocation, Hip contracture, Short neck, Short foot, Hypoplastic ilia, Pointed chin... OMIM:607095
Dentin Dysplasia, Type I
Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration... OMIM:125400
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Narrow vertebral interpedicular distance, Lumbar interpedicular narrowing, Genu varu... OMIM:271510
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast... OMIM:223800
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Anteverted nares, Agenesis of premolar, Taurodontia, Pu... OMIM:166750
Codas Syndrome
Congenital hip dislocation, Abnormal pelvic girdle bone morphology, Depressed nasal bridge, Abnor... ORPHA:1458
Dental Ankylosis
Abnormal dental enamel morphology, Clinodactyly of the 5th finger, Mandibular prognathia, Tooth a... ORPHA:1077
Familial Osteodysplasia, Anderson Type
Tooth malposition, Carious teeth, Elbow dislocation, Aplasia/hypoplasia of the femur, Long nose, ... ORPHA:2769
Primary Condylar Hyperplasia
Abnormality of the temporomandibular joint, Macrodontia, Abnormality of the chin, Abnormal mandib... ORPHA:477781
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Abnormal metatarsal epiphysis morphology, Abnormality o... ORPHA:564003
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Dental crowding, Sandal gap, Short toe, Long philtrum, Short 5th metacarpal, 11 pairs... OMIM:617877
Andersen Cardiodysrhythmic Periodic Paralysis
Small hand, Toe syndactyly, Micrognathia, High palate, Short foot, Short metacarpal, Hypoplasia o... OMIM:170390
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Abnormal vertebral morphology, Anteverted nares, Micrognathia, Thin upper lip vermilion, Short ne... ORPHA:2015
Atelosteogenesis, Type Iii
Radial bowing, Elbow dislocation, Micrognathia, Short neck, Cervical segmentation defect, Flat ac... OMIM:108721
Cole-Carpenter Syndrome 2
Thin ribs, Dentinogenesis imperfecta, Platyspondyly, Microretrognathia, Lambdoidal craniosynostos... OMIM:616294
Sclerosteosis 1
Wide nasal bridge, Tooth malposition, Abnormal pelvic girdle bone morphology, Depressed nasal bri... OMIM:269500
Hallermann-Streiff Syndrome
Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Everted lower lip vermilion, High palate, Hig... OMIM:234100
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Wide mouth, Thin upper lip vermilion, Everted lower lip vermilion, Truncal obesity, Short philtru... ORPHA:2429
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Femoral bowing present at birth, straightening with time, Otosclerosis... OMIM:166220
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Abnormal form of the vertebral bodies, Ge... ORPHA:2831
Raine Syndrome
Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow mouth, Protrud... OMIM:259775
Van Maldergem Syndrome 2
Clinodactyly, Cutaneous finger syndactyly, Micrognathia, Irregular dentition, High palate, Osteop... OMIM:615546
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Enamel hypoplasi... OMIM:212780
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Clinodactyly, Depressed nasal tip, Accessory oral frenulum, Short stature, Brachydactyly, Osteoly... ORPHA:88630
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Nar... ORPHA:363417
Non-Distal Duplication 10Q
Depressed nasal bridge, Frontal bossing, Micrognathia, Joint hypermobility, Brachycephaly, Everte... ORPHA:1695
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Postnatal growth re... OMIM:210720
Epidermolysis Bullosa, Junctional 1A, Intermediate
Carious teeth, Camptodactyly of finger, Oral mucosal blisters, Hypodontia, Enamel hypoplasia OMIM:226650
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Dimple chin, Pursed lips, Postnatal growth retardation, Narrow mou... OMIM:193700
Arthrogryposis, Distal, Type 2B1
Wide nasal bridge, Mandibular prognathia, Rocker bottom foot, Arthrogryposis multiplex congenita,... OMIM:601680
Pseudohypoparathyroidism, Type Ic
Depressed nasal bridge, Delayed eruption of teeth, Obesity, Short neck, Enamel hypoplasia, Brachy... OMIM:612462
Diastrophic Dysplasia
Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Short chin, Patella... OMIM:222600
Geroderma Osteodysplastica
Platyspondyly, Severe short stature, Abnormal epiphysis morphology, Abnormal form of the vertebra... ORPHA:2078
Hall-Riggs Syndrome
Platyspondyly, Wide nasal bridge, Abnormal epiphysis morphology, Delayed eruption of teeth, Downt... ORPHA:2107
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Depressed nasal bridge,... ORPHA:2097
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Hypoplasia of the maxilla, Pointe... OMIM:620099
Temtamy Syndrome
Chorioretinal coloboma, Telecanthus, Convex nasal ridge, Hypertelorism, Iris coloboma ORPHA:1777
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Toe syndactyly, Abnormal epiphysis morphology, Abnormal rib morpho... ORPHA:3082
Harrod Syndrome
Pointed chin, Abnormal pelvic girdle bone morphology, Dental malocclusion, Failure to thrive, Abn... ORPHA:2115
Stickler Syndrome
Open bite, Slender build, Genu valgum, Micrognathia, Arachnodactyly, Short hard palate, Cachexia,... ORPHA:828
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Short neck, Broad phalanx, High pala... OMIM:166250
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma OMIM:616428
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Patellar dislocation, Plagiocephaly, Abnormal form of the vertebral bodies, Elbow dislocation, Ab... ORPHA:2916
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Spondylocarpotarsal Synostosis Syndrome
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Carpal synostosis, C2-C3 subluxation, S... OMIM:272460
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Widely spaced teeth, Herniation of intervertebral nucle... OMIM:601216
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Abnormal vertebral morphology, Premature osteoarthritis, Squared... ORPHA:93352
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Clinodactyly, Micrognathia, Narrow mouth, Decreased body weight, Short neck, Short nose, Wide nos... ORPHA:391408
Braddock-Carey Syndrome 1
Wide nasal bridge, Small hand, Clinodactyly, Anteverted nares, Enamel hypoplasia, Everted lower l... OMIM:619980
Cat-Eye Syndrome
Hypertelorism, Iris coloboma, Chorioretinal coloboma, Downslanted palpebral fissures ORPHA:195
Craniometaphyseal Dysplasia, Autosomal Recessive
Wide nasal bridge, Depressed nasal ridge, Mandibular prognathia, Flared metaphysis, Facial hypero... OMIM:218400
Smith-Mccort Dysplasia 2
Hypoplasia of the odontoid process, Genu valgum, Decreased body weight, Short neck, Disproportion... OMIM:615222
Intellectual Disability, Birk-Barel Type
High, narrow palate, Broad nasal tip, Foot joint contracture, Narrow nasal bridge, Micrognathia, ... ORPHA:166108
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Tongue atrophy, Kyphosis, Short mandibular rami OMIM:141300
Craniolenticulosutural Dysplasia
Carious teeth, High palate, Osteopenia, Thin upper lip vermilion, Narrow iliac wing, Hypoplasia o... OMIM:607812
Pycnodysostosis
Carious teeth, Micrognathia, Delayed eruption of primary teeth, Absent frontal sinuses, Hypodonti... OMIM:265800
Osteoglosphonic Dysplasia
Severe short stature, Choanal atresia, Rhizomelia, Abnormal form of the vertebral bodies, Tooth a... ORPHA:2645
Intellectual Developmental Disorder, Autosomal Recessive 74
Wide nasal bridge, Prominent nose, Brachydactyly, Dolichocephaly, Narrow palate, Mandibular progn... OMIM:617169
Acrootoocular Syndrome
High, narrow palate, Wide nasal base, Small for gestational age, Dental malocclusion, Short toe, ... ORPHA:2980
Pfeiffer-Palm-Teller Syndrome
Short stature, Joint stiffness, Enamel hypoplasia ORPHA:2871
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormal dental morphology, Increased bone mineral density ORPHA:1653
Terminal Osseous Dysplasia
Telecanthus, Depressed nasal tip, Upslanted palpebral fissure, Epicanthus, Ptosis, Hypertelorism,... OMIM:300244
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Pseudoepiphyses of the metacarpals, Premature osteoarthritis, Short stature, ... OMIM:105835
Nail-Patella Syndrome
Abnormal tibia morphology, Contracture of the distal interphalangeal joint of the fingers, Patell... ORPHA:2614
Marshall Syndrome
Thick upper lip vermilion, Genu valgum, Micrognathia, High palate, Short nose, Hypoplasia of the ... ORPHA:560
Osteogenesis Imperfecta, Type Xi
Dentinogenesis imperfecta, Osteopenia, Vertebral wedging, Increased susceptibility to fractures, ... OMIM:610968
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Mi... ORPHA:666
Codas Syndrome
Hypoplasia of the odontoid process, Genu valgum, Lumbar scoliosis, Metaphyseal dysplasia, Short m... OMIM:600373
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal metatarsal morphology, Knee osteoarthritis, Synovitis, Oligoarthritis, Iridocyclitis, We... ORPHA:85408
Microphthalmia, Syndromic 13
Microcornea, Ptosis, Iris coloboma, Chorioretinal coloboma OMIM:300915
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Cataract 9, Multiple Types
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma OMIM:604219
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Dislocation of the femoral h... OMIM:616007
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma, Lacrimal duct atresia ORPHA:139450
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta... OMIM:602111
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Abnormality of carpal bone ossification, Hypoplasia of the maxilla, Osteopenia, Failure to thrive... OMIM:608154
Trichothiodystrophy 9, Nonphotosensitive
High, narrow palate, Dental malocclusion, Brachydactyly, Joint hypermobility OMIM:619692
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm... ORPHA:628
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Hip osteoarthritis, Osteoarthritis, Flattened metatarsal heads, Short stature, Fla... OMIM:271600
Autosomal Recessive Distal Osteolysis Syndrome
Short distal phalanx of finger, Hypoplasia of the maxilla, Broad nasal tip, Abnormality of the de... ORPHA:2776
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Macrodontia, Obesity, Cubitus valgus, High palate, Sh... OMIM:300577
Snijders Blok-Campeau Syndrome
Wide nasal bridge, Widely spaced teeth, Umbilical hernia, Frontal bossing, Prominent nose, Inguin... OMIM:618205
Eiken Syndrome
Delayed epiphyseal ossification, Clinodactyly, Long hallux, Long thumb, Decreased body weight, Mu... OMIM:600002
Ck Syndrome
Dental crowding, Retrognathia, Slender build, Micrognathia, Abnormal cortical bone morphology, Ma... OMIM:300831
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cutaneous finger syndactyly, Micrognathia, Humeroradial synostosi... OMIM:151050
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Abnormal epiphysis morphology, Osteoarthritis, Proportionate short stature ORPHA:93283
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Osteopenia, Dental malocclusion, Contractures of the large joints, Failure to thrive, Trigonoceph... ORPHA:329178
Nestor-Guillermo Progeria Syndrome
Thin ribs, Micrognathia, Limited elbow movement, Thin vermilion border, Flexion contracture, Lipo... OMIM:614008
17Q11.2 Microduplication Syndrome
Abnormal dental enamel morphology, Thick nasal alae, Malar flattening, Bifid nose, Enamel hypopla... ORPHA:139474
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Plagiocephaly, Clinodactyly, Long philtrum, Anteverted nares, Micrognathia, Un... OMIM:618577
Schaaf-Yang Syndrome
Small hand, Rocker bottom foot, Mandibular prognathia, Clinodactyly, Retrognathia, Scoliosis, Fai... OMIM:615547
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Postnatal growth retardation, Short neck, Flat acetabular roof, ... OMIM:613320
Osteogenesis Imperfecta, Type Xiii
Decreased body weight, Arachnodactyly, Dislocated radial head, Wide distal femoral metaphysis, Fe... OMIM:614856
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Obesity, Abnormality of the vertebral column, Osteoarthritis ORPHA:2206
Pseudohypoparathyroidism Type 1B
Depressed nasal bridge, Delayed eruption of teeth, Increased bone density with cystic changes, Sh... ORPHA:94089
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte... OMIM:224300
Dysosteosclerosis
Platyspondyly, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Delayed eruption ... ORPHA:1782
Permanent Molars, Secondary Retention Of
Clinodactyly of the 5th finger, Mandibular prognathia, Abnormality of the dentition OMIM:157950
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Disproportionate short stature, Abnormal form of the vertebral bodies, Ve... ORPHA:40
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Broad columella, Diastema, Underdeveloped nasal alae, Micrognathia, Malar fl... ORPHA:436245
Anophthalmia Plus Syndrome
Choanal atresia, Eyelid coloboma, Abnormal nasal morphology, Blepharophimosis, Hypertelorism, Iri... ORPHA:1104
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Recurrent otitis media, Postnatal growth retardation, Hypoplastic inferior ilia, Short metacarpal... OMIM:608940
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Sclerosteosis 2
Mandibular prognathia, Short finger, Cutaneous finger syndactyly, Thickened calvaria, Frontal bos... OMIM:614305
Osteochondrosis Of The Tarsal Bone
Tarsal sclerosis, Abnormal tarsal ossification, Chondritis, Osteochondritis dissecans, Tarsal sti... ORPHA:563991
Cat-Eye Syndrome (Type I)
Iris coloboma, Downslanted palpebral fissures DECIPHER:42
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Acne, Broad thumb, Synostosis of ca... OMIM:101200
Smith-Magenis Syndrome
Toe syndactyly, Micrognathia, Open mouth, Delayed eruption of primary teeth, Chronic otitis media... ORPHA:819
Scarf Syndrome
Wide nasal base, Abnormal form of the vertebral bodies, Long philtrum, Umbilical hernia, Inguinal... ORPHA:3134
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
X-Linked Hypophosphatemia
Cellulitis, Limitation of joint mobility, Genu valgum, Bowing of the long bones, Tooth abscess, V... ORPHA:89936
Winchester Syndrome
Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Arthropathy, Generaliz... OMIM:277950
Hamamy Syndrome
Micrognathia, Everted lower lip vermilion, High palate, Syndactyly, Osteopenia, Neck pterygia, In... OMIM:611174
Melnick-Needles Syndrome
Tooth malposition, Craniofacial hyperostosis, Delayed cranial suture closure, Micrognathia, Bowin... ORPHA:2484
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Aplasia of the nasal bon... ORPHA:93357
Hypochondroplasia
Depressed nasal bridge, Disproportionate short-limb short stature, Flared metaphysis, Frontal bos... OMIM:146000
49,Xxxxy Syndrome
Carious teeth, Elbow dislocation, Open bite, Radioulnar synostosis, Short neck, Chronic otitis me... ORPHA:96264
Short Stature, Dauber-Argente Type
Osteopenia, Delayed eruption of teeth, Short chin, Decreased fibular diameter, Postnatal growth r... OMIM:619489
48,Xxyy Syndrome
Broad jaw, Carious teeth, Delayed eruption of teeth, Elbow dislocation, Thick lower lip vermilion... ORPHA:10
Amelogenesis Imperfecta, Type Ia
Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia OMIM:104530
48,Xxxy Syndrome
Carious teeth, Elbow dislocation, Open bite, Radioulnar synostosis, Short neck, Chronic otitis me... ORPHA:96263
Intellectual Developmental Disorder, Autosomal Recessive 61
Conical tooth, Prominent fingertip pads, Bulbous nose, Prominent nose, Joint hypermobility, Long ... OMIM:617773
Craniolenticulosutural Dysplasia
Hypoplasia of the maxilla, Carious teeth, High iliac wing, Delayed eruption of teeth, Long philtr... ORPHA:50814
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Chorioretinal coloboma, Posterior embryotoxon, Ptosis, Corneal opacity, Iris coloboma ORPHA:1473
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular... OMIM:614669
Pierpont Syndrome
Decreased body weight, Short neck, Everted lower lip vermilion, Short foot, Short nose, Wide nose... OMIM:602342
Cockayne Syndrome Type 2
Short chin, Widely spaced primary teeth, Intrauterine growth retardation, Hypoplasia of the prima... ORPHA:90322
Congenital Disorder Of Glycosylation, Type Iia
Postnatal growth retardation, Open mouth, Protruding tongue, Short neck, Everted lower lip vermil... OMIM:212066
Alg2-Cdg
Wide nasal bridge, Cataract, Downslanted palpebral fissures, Epicanthus, Iris coloboma ORPHA:79326
Progeroid Syndrome, Petty Type
Short distal phalanx of finger, Mandibular prognathia, Failure to thrive, Umbilical hernia, Tooth... ORPHA:2963
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the costochondral junction, Hypoplastic cervical vertebrae, Postnatal growth retar... ORPHA:79345
Intellectual Developmental Disorder, X-Linked, Syndromic 12
Thick lower lip vermilion, Thick upper lip vermilion, Postnatal growth retardation, Wide mouth, B... OMIM:309545
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Pseudodiastrophic Dysplasia
Platyspondyly, Severe short stature, Rhizomelia, Hypoplasia of the odontoid process, Elbow disloc... OMIM:264180
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Genu valgum, Carpal bone hypoplasia, Wind-swept deformity of the knees, Radial head subluxation, ... OMIM:603546
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Iris coloboma, Chorioretinal coloboma OMIM:601706
Achondrogenesis Type 1B
Severe short stature, Disproportionate short stature, Abnormal enchondral ossification, Long phil... ORPHA:93298
Acromicric Dysplasia
Severe short stature, Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morpholog... ORPHA:969
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Bulbous nose, Micrognathia, Mandibular prognathia, Genu varum OMIM:604317
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Depressed nasal bridge, Epicanthus, Hypertelorism OMIM:616911
Oculodentodigital Dysplasia
Carious teeth, Clinodactyly, Joint contracture of the 5th finger, High palate, Vertebral hyperost... OMIM:164200
Pfeiffer Syndrome
Wide nasal bridge, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Hypoplasia of the ... ORPHA:710
Marshall Syndrome
Radial bowing, Thick upper lip vermilion, Recurrent otitis media, Micrognathia, Absent frontal si... OMIM:154780
Renpenning Syndrome
High, narrow palate, Severe short stature, Growth delay, Broad columella, Macrodontia, Joint stif... ORPHA:3242
Beukes Hip Dysplasia
Shallow acetabular fossae, Broad femoral neck, Avascular necrosis of the capital femoral epiphysi... OMIM:142669
Lessel-Kreienkamp Syndrome
Wide nasal bridge, Plagiocephaly, Dental malocclusion, Scaphocephaly, Open mouth, Thin upper lip ... OMIM:619149
Short Syndrome
Clinodactyly, Short chin, Dimple chin, Micrognathia, Reduced subcutaneous adipose tissue, Downtur... OMIM:269880
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Narrow mouth, Patellar aplasia, Congenital diaphragmatic her... OMIM:265000
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed cranial suture closure, Micrognathia, Flat occiput, High, narrow palate, Coarse metaphyse... ORPHA:2780
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Short neck, Beaking of vertebral bodies, Th... ORPHA:457395
Achondrogenesis Type 1A
Severe short stature, Abnormal enchondral ossification, Long philtrum, Umbilical hernia, Antevert... ORPHA:93299
Weismann-Netter Syndrome
Severe short stature, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, Calvarial hypero... OMIM:112350
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy... ORPHA:3352
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Platyspondyly, Metaphyseal cupping, Depressed nasal bridge, Plagi... OMIM:618853
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Nar... OMIM:228520
Intellectual Developmental Disorder, Autosomal Recessive 41
Recurrent pneumonia, Broad nasal tip, Prominent fingertip pads, Retrognathia, Frontal bossing, Sc... OMIM:615637
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Short iliac bones, Flattened proximal radial epiphyses, Kyphosis, Squa... OMIM:271530
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Malar flattening, Brachydactyly, Abnormal na... ORPHA:1919
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Scoliosis, Hypoplastic cervical vertebrae, Retrognathia, Elbow dislocation, Knee dislocation, Sma... OMIM:620269
Momo Syndrome
Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip... OMIM:157980
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Delayed cranial suture closure, Anteverted nares, Micrognath... ORPHA:1832
Sjogren-Larsson Syndrome
Short stature, Flexion contracture, Enamel hypoplasia, Thoracic kyphosis OMIM:270200
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow disloc... ORPHA:3258
Junctional Epidermolysis Bullosa Inversa
Carious teeth, Atrophic scars, Oral mucosal blisters, Enamel hypoplasia, Gastrointestinal inflamm... ORPHA:79405
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Severe short stature, Synostosis of carpal bones, Finger syndactyly, Kyphosis, Moderate postnatal... ORPHA:1005
Foxp1 Syndrome
Recurrent upper respiratory tract infections, Broad nasal tip, Downturned corners of mouth, Clino... ORPHA:391372
Loeys-Dietz Syndrome 5
Cleft soft palate, Reduced subcutaneous adipose tissue, Arachnodactyly, Eosinophilic infiltration... OMIM:615582
Geroderma Osteodysplasticum
Periodontitis, Beaking of vertebral bodies, Irregular vertebral endplates, Hyperextensibility of ... OMIM:231070
Fibrochondrogenesis 2
Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Anteverted nares, Micrognathia, Malar flatt... OMIM:614524
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Depressed nasal bridge, Small hand, Mandibular prognathia, Sandal gap, Thick lower lip vermilion,... OMIM:300354
Hajdu-Cheney Syndrome
Genu valgum, Fibular bowing, Micrognathia, Narrow mouth, Crowded carpal bones, Absent frontal sin... OMIM:102500
Metatropic Dysplasia
Severe short stature, Depressed nasal bridge, Scoliosis, Coarse metaphyseal trabecularization, Hy... ORPHA:2635
Hypomelanosis Of Ito
Cataract, Iris coloboma, Epicanthus, Hypertelorism OMIM:300337
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Underdeveloped nasal alae, Widely spaced teeth, Malar flattening, Short stature OMIM:616108
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide nasal bridge, Depressed nasal bridge, Small for gestational age, Arthrogryposis multiplex co... OMIM:615834
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Depressed nasal ridge, Small hand, Plagiocephaly, Downturned corners of mouth, Anteverted nares, ... OMIM:618672
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
High palate, Enamel hypoplasia, Retrognathia, Frontal bossing OMIM:617915
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Arthralgia of the hip, Abnormality of the epiphyses of the fe... ORPHA:93311
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Toe syndactyly, Frontal bossing, Preaxial foot polydactyly, Abnormal p... ORPHA:1540
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Bowing of the long bones, Osteopenia, Ingui... OMIM:613848
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Myopathy, Myofibrillar, 8
Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, Joint hypermobility, Dist... OMIM:617258
Developmental And Epileptic Encephalopathy 73
Short chin, Failure to thrive, Narrow nasal bridge, Inguinal hernia, Hip dysplasia, Flexion contr... OMIM:618379
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Short nose, Intrauterine growth retardation, Micrognathia, Malar flattening, T... ORPHA:2145
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Wide nasal bridge, Arthrogryposis-like hand anomaly, Mandibular prognathia, Depressed nasal bridg... ORPHA:369891
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Short neck, Everted lower lip vermilion, Short foot, Hypoplasia of... ORPHA:915
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Joint hypermobility, Arachnodactyly, Glomerulonephritis, High palate, Mandibular prognathia, Thor... ORPHA:2172
Schwartz-Jampel Syndrome
Arthrogryposis multiplex congenita, Elbow dislocation, Pursed lips, Genu valgum, Micrognathia, Na... ORPHA:800
Turnpenny-Fry Syndrome
Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Decreased body weight, Prominent nasal t... OMIM:618371
Oligodontia
Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l... ORPHA:99798
Seckel Syndrome
Cone-shaped epiphysis, Sandal gap, Tooth agenesis, Abnormal dental enamel morphology, Intrauterin... ORPHA:808
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, High palate, Dental malocclusion, Mandibular prognathia OMIM:608931
Vulto-Van Silfhout-De Vries Syndrome
2-3 toe cutaneous syndactyly, Prominent fingertip pads, Thick lower lip vermilion, Frontal bossin... OMIM:615828
Premature Aging Syndrome, Penttinen Type
Thin ribs, Delayed cranial suture closure, Micrognathia, Aplasia of the nasal bone, Flexion contr... OMIM:601812
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Hypoplastic ilia, Vertebral wedging, Stiff neck, Joint stiffness, Internal tibial ... OMIM:616583
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Donnai-Barrow Syndrome
Depressed nasal bridge, Proptosis, Downslanted palpebral fissures, Hypertelorism, Iris coloboma, ... ORPHA:2143
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Iris coloboma, Coloboma, Peters anomaly, Ocular anterior segment dysgenesis OMIM:610023
Osteopathia Striata With Cranial Sclerosis
Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, High p... OMIM:300373
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fo... OMIM:201000
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Decreased fibular diameter, Micrognathia, Decreased skull ossification, Short neck, Multiple pren... OMIM:616897
Myofibrillar Myopathy 10
Ankle flexion contracture, Sandal gap, Elbow flexion contracture, Knee flexion contracture, Flexi... OMIM:619040
Epidermolysis Bullosa, Junctional 1B, Severe
Carious teeth, Failure to thrive, Atrophic scars, Enamel hypoplasia, Syndactyly OMIM:226700
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atlantoaxial dislocation, Carious teeth, Postnatal growth retardation, Dysplasia of the femoral h... ORPHA:536467
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Aplastic clavicle, Wide anterior fontanel, Coronal craniosynostosis, Plagiocephaly, Eczematoid de... ORPHA:85199
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Retrognathia, 11 pairs of ribs, Micrognathia, Short neck, Camptodactyly, High ... OMIM:618393
Eng-Strom Syndrome
Camptodactyly of finger, Intrauterine growth retardation, Brachydactyly, Arthritis, Short stature... ORPHA:1937
Familial Calcium Pyrophosphate Deposition
Chondrocalcinosis, Joint dislocation, Limitation of joint mobility, Calcification of cartilage, J... ORPHA:1416
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Micrognathia, Knee flexion contracture, Thin vermil... OMIM:214150
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Elbow dislocation, Open bite, Arachnodactyly, Radial head subluxation, High palate, Hip dislocati... OMIM:620083
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Pointed chin, Scaphocephaly, Genu valgum, Patellar subluxation, Dolichocephaly, Mandibular progna... OMIM:248000
Zimmermann-Laband Syndrome
Bifid uvula, Growth delay, Overtubulated long bones, Bulbous nose, Micrognathia, Wide mouth, Supe... ORPHA:3473
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Short neck, Broad phalanx, An... OMIM:271665
Chst3-Related Skeletal Dysplasia
Rhizomelia, Delayed eruption of teeth, Long philtrum, Abnormal form of the vertebral bodies, Irre... ORPHA:263463
Osteopetrosis, Autosomal Recessive 2
Carious teeth, Mandibular osteomyelitis, Cranial hyperostosis, Osteomyelitis, Persistence of prim... OMIM:259710
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,... ORPHA:174
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D... OMIM:311300
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Osteopenia, Otosclerosis, Femoral bowing, Biconcave flattened vertebra... OMIM:166200
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Ingu... OMIM:252600
Acromesomelic Dysplasia 4
Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to... OMIM:619636
Crouzon Syndrome
Choanal atresia, Proptosis, Ptosis, Convex nasal ridge, Hypertelorism, Conjunctivitis, Iris coloboma ORPHA:207
Rhizomelic Chondrodysplasia Punctata, Type 1
Severe short stature, Depressed nasal bridge, Rhizomelia, Flared metaphysis, Micrognathia, Epiphy... OMIM:215100
Scarf Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Wide nasal bridge, Short chin, Long philtr... OMIM:312830
Lowry-Maclean Syndrome
Micrognathia, Congenital diaphragmatic hernia, Delayed eruption of primary teeth, Short nose, Hig... ORPHA:2409
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Long hallux, Short neck, Hyperextensibility of the finger joints, High, narrow palate, Bulbous no... OMIM:309583
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Hypomature dental enamel, Amelogenesis imperfecta, Enamel hypomineralization OMIM:613211
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Atopic dermatitis, Cone-shaped epiphysis, Dental crowding, Obesity, Hallux valgus, Mandibular pro... OMIM:606772
Late-Onset Junctional Epidermolysis Bullosa
Carious teeth, Enamel hypoplasia, Oral mucosal blisters ORPHA:79406
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Mandibular prognathia, Short philtrum, Scoliosis, Kyphosis, Cleft palate, Prominent metopic ridge ORPHA:85317
Lowry-Maclean Syndrome
Delayed eruption of teeth, Intrauterine growth retardation, Convex nasal ridge, Craniosynostosis,... OMIM:600252
Achondroplasia
Flat acetabular roof, Disproportionate short stature, Cervical spinal canal stenosis, Obesity, Li... ORPHA:15
Au-Kline Syndrome
Overlapping toe, Open mouth, Thoracolumbar scoliosis, High palate, Short nose, Plagiocephaly, Dow... OMIM:616580
Odontotrichoungual-Digital-Palmar Syndrome
Short distal phalanx of finger, Short 1st metacarpal, Dental malocclusion, Natal tooth, Short fir... OMIM:601957
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Overlapping toe, Carpal bone hypoplasia, Short neck, Thoracolumbar scoliosis, Short metacarpal, S... OMIM:616723
Teebi Hypertelorism Syndrome 2
Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v... OMIM:619736
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Rhizomelia, Broad thumb, Short finger, Irregular epiphyses, Lumbar hyperlordosis, ... OMIM:612813
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Atopic dermatitis, Hypoplasia of the maxilla, Obesity, Hallux valgus, Cone-shaped epiphyses of th... ORPHA:397973
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Platyspondyly, Dentinogenesis imperfecta, Osteopenia, Scoliosis, Periodontitis, Short toe, Retrog... OMIM:619269
Cranio-Osteoarthropathy
Clubbing of toes, Deviation of finger, Eczematoid dermatitis, Abnormal tibia morphology, Joint st... ORPHA:1525
Congenital Hydrocephalus
Bulbous nose, Iris coloboma, Downslanted palpebral fissures ORPHA:2185
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Amelogenesis imperfecta, Enamel hypomineralization, Enamel hypoplasia OMIM:614832
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Failure to thrive, Flat occiput, Fro... OMIM:600081
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Lumbar hyperlordosis, Thoracic kyphosis, Genu valgum, Intervertebral space narrowi... OMIM:609223
Progressive Osseous Heteroplasia
Ectopic ossification in muscle tissue, Limitation of joint mobility, Brachydactyly, Osteoarthritis ORPHA:2762
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Osteoporosis, Recurrent aspiration pneumonia, Mandibular prognathia OMIM:619971
Intermediate Generalized Junctional Epidermolysis Bullosa
Atrophic scars, Oral mucosal blisters, Scarring alopecia of scalp, Enamel hypoplasia, Growth delay ORPHA:79402
Gm1 Gangliosidosis
Aspiration pneumonia, Narrow mouth, Weight loss, Depressed nasal ridge, Broad nasal tip, Coarse m... ORPHA:354
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Broad nasal tip, Carious teeth, Hepatitis, Enamel hypoplasia, Thick vermilion border ORPHA:363523
Ectodermal Dysplasia-Syndactyly Syndrome 2
Thin upper lip vermilion, Enamel hypoplasia, Syndactyly OMIM:613576
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Wide nasal bridge, Depressed nasal bridge, Severe short stature, Short finger, Hyp... OMIM:313420
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Vocal cord paralysis ORPHA:640
Verheij Syndrome
Clinodactyly, Branchial cyst, Short neck, Hip dislocation, Short nose, Short 5th finger, Broad na... OMIM:615583
Craniosynostosis And Dental Anomalies
Lambdoidal craniosynostosis, Clinodactyly, High palate, Chronic otitis media, Wide nose, Flat occ... OMIM:614188
Oculodentodigital Dysplasia
Toe syndactyly, Carious teeth, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Mandi... ORPHA:2710
Frontofacionasal Dysplasia
Cataract, Microcornea, Ankyloblepharon, Underdeveloped nasal alae, Telecanthus, Midline defect of... OMIM:229400
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger... ORPHA:776
Den Hoed-De Boer-Voisin Syndrome
Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Sandal gap, Delayed eruption ... OMIM:619229
Gapo Syndrome
Choanal atresia, Abnormal pelvic girdle bone morphology, Mandibular prognathia, Depressed nasal b... ORPHA:2067
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Aplasia/hypoplasia involving bones of the extremities, Abnormal vertebral morphology, Platyspondy... ORPHA:93346
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Carious teeth, Keratitis, Increased connective tissue, Punctate keratitis, Scarring alopecia of s... OMIM:226670
Microphthalmia/Coloboma 9
Microcornea, Ptosis, Hypertelorism, Ocular anterior segment dysgenesis, Narrow palpebral fissure,... OMIM:615145
Ehlers-Danlos Syndrome, Classic Type, 1
Cigarette-paper scars, Joint dislocation, Umbilical hernia, Inguinal hernia, Recurrent sinusitis,... OMIM:130000
Intellectual Developmental Disorder, Autosomal Dominant 23
Wide nasal bridge, Depressed nasal bridge, Broad distal phalanx of finger, Dental crowding, Sanda... OMIM:615761
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, Slender build, Prominent nasal bridge, High pal... OMIM:300676
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Depressed nasal bridge, Toe syndactyly, Long philtrum, Umbilical hernia, Obesity, Micrognathia, A... ORPHA:171839
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies
High, narrow palate, Broad thumb, Clinodactyly, Long philtrum, Prominent nasal bridge, Metopic sy... OMIM:619880
Cole-Carpenter Syndrome 1
Dentinogenesis imperfecta, Coronal craniosynostosis, Osteopenia, Orbital craniosynostosis, Fronta... OMIM:112240
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities
Wide nasal bridge, Mandibular prognathia, Retrognathia, Long philtrum, Joint hypermobility, Thin ... OMIM:619595
Harel-Yoon Syndrome
Mandibular prognathia, Frontal bossing, Micrognathia, Hip dysplasia, Scoliosis, Short nose OMIM:617183
3P25.3 Microdeletion Syndrome
Broad thumb, Overlapping toe, Micrognathia, 2-3 finger syndactyly, High, narrow palate, Downturne... ORPHA:435638
Intellectual Developmental Disorder, X-Linked 58
Short philtrum, Dental malocclusion OMIM:300210
Cornelia De Lange Syndrome 5
Small hand, Toe syndactyly, Postnatal growth retardation, Micrognathia, Short neck, High palate, ... OMIM:300882
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Small hand, Clinodactyly, Short foot, Short metacarpal, Pointed chin, Osteopenia, Cone-shaped epi... OMIM:614813
Developmental Dysplasia Of The Hip 2
Hip osteoarthritis, Arthritis, Coxa valga, Hip dysplasia OMIM:615612
Cornelia De Lange Syndrome 2
Small hand, Clinodactyly, Downturned corners of mouth, Postnatal growth retardation, Anteverted n... OMIM:300590
Temtamy Syndrome
Highly arched eyebrow, Ectopia lentis, Chorioretinal coloboma, Downslanted palpebral fissures, Co... OMIM:218340
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Micrognathia, Radioulnar synostosis, Abnormal fibula morphology,... ORPHA:1988
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Overlapping toe, Micrognathia, High palate, Flat occiput, Broad nas... OMIM:613792
Cutis Laxa, Autosomal Recessive, Type Iia
Congenital hip dislocation, Carious teeth, Failure to thrive, Long philtrum, Frontal bossing, Ant... OMIM:219200
Distal Duplication 18Q
Progressive intervertebral space narrowing, Choanal atresia, Carious teeth, Deviation of finger, ... ORPHA:1716
Robinow Syndrome, Autosomal Dominant 3
Broad thumb, Clinodactyly, Micrognathia, Short neck, Short nose, Syndactyly, Cleft lip, Downturne... OMIM:616894
Progeria-Short Stature-Pigmented Nevi Syndrome
Short distal phalanx of finger, Bifid uvula, Osteopenia, Dental malocclusion, Selective tooth age... ORPHA:2959
Robinow Syndrome
Flared nostrils, Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of perm... ORPHA:97360
Osteoarthritis Susceptibility 3
Joint stiffness, Osteoarthritis of the first carpometacarpal joint, Osteoarthritis of the distal ... OMIM:607850
Familial Avascular Necrosis Of Femoral Head
Hip osteoarthritis, Abnormal femoral neck/head morphology, Limited hip movement, Flattened femora... ORPHA:86820
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Wide nasal bridge, Narrow palate, Retrognathia, Long philtrum, Frontal bossing, Thoracic kyphosis... OMIM:620250
Fanconi Anemia, Complementation Group S
Dental malocclusion, Clinodactyly, Failure to thrive, Underdeveloped nasal alae, Thick upper lip ... OMIM:617883
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Choanal atresia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flatteni... ORPHA:93262
Osteogenesis Imperfecta, Type Vii
Dentinogenesis imperfecta, Osteopenia, Rhizomelia, Long philtrum, Delayed cranial suture closure,... OMIM:610682
Intellectual Developmental Disorder, Autosomal Recessive 48
Small hand, Mandibular prognathia, Long philtrum OMIM:616269
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Frontal bossing, Obesity, Wide nose, Anodontia, Oligodontia, Everted lower lip vermilion, Short s... ORPHA:276630
Intellectual Developmental Disorder, Autosomal Dominant 1
Short chin, Postnatal growth retardation, Micrognathia, Open mouth, Everted lower lip vermilion, ... OMIM:156200
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
X-Linked Intellectual Disability Due To Gria3 Mutations
Genu recurvatum, Macrodontia of permanent maxillary central incisor, Narrow palate, Slender build... ORPHA:364028
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Open mouth, Everted lower lip vermilion, High palate, Short metacarpal... ORPHA:192
Xp22.13P22.2 Duplication Syndrome
Flared nostrils, Small hand, Broad nasal tip, Recurrent upper respiratory tract infections, Umbil... ORPHA:284180
Faciocardiomelic Syndrome
Osteopenia, Depressed nasal bridge, Dental malocclusion, Slender long bone, Hyperplasia of the ma... OMIM:612731
Kabuki Syndrome 2
Short 5th finger, Broad nasal tip, Natal tooth, Prominent fingertip pads, Dental malocclusion, Re... OMIM:300867
Cranioectodermal Dysplasia 1
Clinodactyly, Anodontia, Broad distal phalanges of all fingers, Everted lower lip vermilion, Broa... OMIM:218330
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Reduced bone mineral density, Inguinal hernia, Decreased body weight, ... OMIM:618392
Intellectual Developmental Disorder, Autosomal Recessive 45
Wide nasal bridge, Highly arched eyebrow, Downslanted palpebral fissures, Bulbous nose, Anteverte... OMIM:615979
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Dental crowding, Delayed eruption of teeth, Long philtrum, Short chin, Underdeveloped nasal alae,... OMIM:618825
Macrocephaly-Developmental Delay Syndrome
Wide nasal bridge, Recurrent pneumonia, Microretrognathia, Frontal bossing, Scaphocephaly, Cranio... ORPHA:397612
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Decreased body weight, Brachycephaly, Short stature, Mandibular progna... ORPHA:93950
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Mmep Syndrome
Median cleft upper lip, Orofacial cleft, Triphalangeal thumb, Mandibular prognathia, Split foot ORPHA:3434
Nizon-Isidor Syndrome
Depressed nasal bridge, Sparse eyebrow, Downslanted palpebral fissures, Bulbous nose, Upper eyeli... OMIM:618872
Chromosome 16Q22 Deletion Syndrome
Wide nasal bridge, Depressed nasal bridge, Growth delay, Broad hallux, Failure to thrive, Postnat... OMIM:614541
Amelogenesis Imperfecta, Type Ij
Carious teeth, Widely spaced teeth, Increased overbite, Amelogenesis imperfecta, Enamel hypoplasi... OMIM:617297
Classic Multiminicore Myopathy
Microretrognathia, Failure to thrive, Multiple joint contractures, Hip dysplasia, Short stature, ... ORPHA:324604
Burn-Mckeown Syndrome
Wide nasal bridge, Short palpebral fissure, Bilateral choanal atresia, Prominent nasal bridge, Hy... ORPHA:1200
Marshall-Smith Syndrome
Choanal atresia, Slender long bone, Retrognathia, Failure to thrive, Anteverted nares, Gingival o... ORPHA:561
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Gillessen-Kaesbach-Nishimura Syndrome
Retrognathia, Underdeveloped nasal alae, Micrognathia, Congenital diaphragmatic hernia, Decreased... OMIM:263210
Goldberg-Shprintzen Megacolon Syndrome
Wide nasal bridge, Sparse eyebrow, Ptosis, Hypertelorism, Iris coloboma ORPHA:66629
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Genu valgum, Malar flattening, Hypodontia,... ORPHA:2972
Autosomal Recessive Hypophosphatemic Rickets
Osteomalacia, Sclerotic vertebral endplates, Rickets of the lower limbs, Tooth abscess, Genu varu... ORPHA:289176
Baraitser-Winter Syndrome 1
Wide nasal bridge, Highly arched eyebrow, Chorioretinal coloboma, Anteverted nares, Long palpebra... OMIM:243310
Dysplasia Epiphysealis Hemimelica
Abnormal epiphysis morphology, Abnormal femoral neck morphology, Irregular epiphyses, Joint stiff... ORPHA:1822
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Plagiocephaly, Downturned corners of mouth, Malar flattening, Cleft palate, Aplasia/Hypoplasia of... ORPHA:94066
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Micrognathia, Narrow mouth, Man... OMIM:602483
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Postaxial foot polydactyly, Postaxial polysyndactyly of foot, F... ORPHA:2919
Malan Syndrome
Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption... OMIM:614753
Achondrogenesis
Severe short stature, Abnormal enchondral ossification, Long philtrum, Umbilical hernia, Antevert... ORPHA:932
Smith-Magenis Syndrome
Wide nasal bridge, Abnormality of the dentition, Velopharyngeal insufficiency, Everted upper lip ... OMIM:182290
Lenz-Majewski Hyperostotic Dwarfism
Limitation of joint mobility, Finger syndactyly, Delayed cranial suture closure, Abnormal metacar... ORPHA:2658
Microcephalic Primordial Dwarfism, Montreal Type
Severe short stature, Carious teeth, Open bite, Micrognathia, Reduced bone mineral density, Abnor... ORPHA:2617
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Wide nasal bridge, Conical tooth, Dental malocclusion, Sandal gap, Broad hallux, Clinodactyly, 3-... OMIM:618727
Ramon Syndrome
Delayed eruption of teeth, Failure to thrive, Abnormal dental enamel morphology, Narrow palate, G... ORPHA:3019
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Carpal osteolysis, Wrist swelling, Metacar... OMIM:166300
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaphysis morphology, Camptodactyly of fi... ORPHA:3409
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Autosomal Dominant Prognathism
Open bite, Mandibular prognathia, Everted lower lip vermilion ORPHA:2964
Xq25 Microduplication Syndrome
Short stature, Mandibular prognathia, Malar flattening, Thick vermilion border ORPHA:521258
Acrocallosal Syndrome
Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Everted upper lip vermilion, Postn... OMIM:200990
Acrocraniofacial Dysostosis
Broad thumb, Genu valgum, Micrognathia, Choanal atresia, Ulnar deviation of finger, Short 1st met... ORPHA:949
Coffin-Lowry Syndrome
Thick nasal septum, Open mouth, Decreased body weight, Everted lower lip vermilion, High palate, ... OMIM:303600
Rubinstein-Taybi Syndrome 1
Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Postnatal growth retardation... OMIM:180849
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Bifid uvula, Mandibular prognathia, Depressed nasal bridge, Bulbous nose, Intrauterine growth ret... OMIM:618622