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Gene: Ltbp3 MGI:1101355

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
latent transforming growth factor beta binding protein 3
Synonyms:
Ltbp2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ltbp3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Platyspondyly, Mandibular prognathia, Herniation of interve... OMIM:601216
Acromicric Dysplasia
Long philtrum, Abnormality of femur morphology, Narrow mouth, Bulbous nose, Short nose, Abnormali... ORPHA:969
Geleophysic Dysplasia 3
Long philtrum, Bulbous nose, Subglottic stenosis, Pneumonia, Thick vermilion border, Wide nasal b... OMIM:617809

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hall-Riggs Mental Retardation Syndrome
Enamel hypoplasia, Osteoporosis, Scoliosis, Platyspondyly, Thick lower lip vermilion, Hypoplasia ... OMIM:234250
Pyle Disease
Scoliosis, Delayed eruption of teeth, Carious teeth, Genu valgum, Platyspondyly, Limited elbow ex... OMIM:265900
Scheuermann Disease
Osteochondrosis, Kyphosis, Morbus Scheuermann OMIM:181440
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Narrow mouth, Joint laxity, Phalangeal dislocation, Broad first meta... OMIM:251450
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Small epiphyses, Short femoral neck, High palate, Advanced ossification... OMIM:618363
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... ORPHA:750
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Flexion contract... OMIM:203550
Membranous Cranial Ossification, Delayed
Downslanted palpebral fissures, Hypertelorism, Depressed nasal bridge OMIM:155980
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Mandi... ORPHA:2790
Pycnodysostosis
Scoliosis, Wormian bones, Carious teeth, Narrow palate, Persistent open anterior fontanelle, Incr... OMIM:265800
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Cigarette-paper scars, Short phalanx of finger, Joint laxity, Short femoral neck, High palate, Fl... OMIM:612350
Craniometadiaphyseal Dysplasia
Scoliosis, Wormian bones, Carious teeth, Dental crowding, Mandibular prognathia, Natal tooth, Hig... OMIM:269300
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Anteverted nares, Enlarged epiphyses, Pierre-Robin sequence, Midface retrusion, Pr... OMIM:184840
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Scoliosis, Joint laxity, Mild short stature, Midface retrusion, Atrophic scars, Kyphosis, Joint s... OMIM:130060
Alpha-Mannosidosis
Open bite, Hip dysplasia, Macroglossia, Scoliosis, Narrow palate, Synostosis of joints, Craniofac... ORPHA:61
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Short neck, Micrognathi... ORPHA:1427
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Delayed eruption of teeth, Abnormality of epiphysis morphology, Hip osteoarthritis... ORPHA:63442
Familial Intestinal Malrotation
Long palpebral fissure, Hypertelorism, Anteverted nares, Depressed nasal bridge ORPHA:508410
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Mild short stature, Generalized joint laxity, Hip osteoarth... OMIM:132400
Parastremmatic Dwarfism
Scoliosis, Genu valgum, Kyphosis, Severe short stature, Short neck OMIM:168400
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Stiff shoulders, Hip osteoarthri... ORPHA:2619
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Platyspondyly, Metaphyseal irregularity, Proportionate short stature, N... OMIM:601668
Larsen-Like Syndrome
Absent nasal bridge, Wide anterior fontanel, Frontal bossing, Radial deviation of the 4th finger,... OMIM:608545
Hip Dysplasia, Beukes Type
Hip dysplasia, Scoliosis, Abnormal bone ossification, Abnormal ossification involving the femoral... ORPHA:2114
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Bulging epiphyses, Metaphyseal irregularity, Bulging of the costochondral junc... OMIM:264700
Craniodiaphyseal Dysplasia, Autosomal Dominant
Cortical sclerosis, Thickened ribs, Choanal stenosis, Craniofacial hyperostosis, Mandibular progn... OMIM:122860
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Bulging epiphyses, Carious teeth, Metaphyseal irregularity, Bulging of the cos... OMIM:277440
Robinow Syndrome, Autosomal Dominant 2
Broad thumb, Dental crowding, Short distal phalanx of finger, Partial duplication of the phalanx ... OMIM:616331
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Neonatal short-limb short stature, Wide anterior f... OMIM:259420
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Short phalanx of finger, Metaphyseal irregularity, Joint laxit... OMIM:177170
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Depressed nasal bri... OMIM:612463
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Bulbous nose, Short phalanx of finger, Micrognathia, Coronal cleft vertebrae, Flexion contracture... OMIM:215150
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Flattened femoral head, Short femoral neck, Hump-shaped mound of bone in central... ORPHA:99642
Maxillonasal Dysplasia, Binder Type
Patchy distortion of vertebrae, Short nose, Short columella, Short distal phalanx of finger, Dent... OMIM:155050
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Joint laxity, Midface retrusion, Growth delay, Metaphyseal... OMIM:614727
Bifid Nose
Bifid nose, Hypertelorism ORPHA:2695
Albers-Schönberg Osteopetrosis
Genu valgum, Carious teeth, Osteomyelitis, Frontal bossing, Abnormality of epiphysis morphology, ... ORPHA:53
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Short distal phalanx... ORPHA:1327
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... ORPHA:93284
Trichorhinophalangeal Syndrome, Type I
Pear-shaped nose, Scoliosis, Carious teeth, Narrow palate, Short metatarsal, Ivory epiphyses of t... OMIM:190350
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Bulbous nose, Anteverted nares, Mandibular prognathia, Wide nasal bridge, Sand... OMIM:600991
Three M Syndrome 1
Joint hypermobility, Mandibular prognathia, Postnatal growth retardation, Small for gestational a... OMIM:273750
Cleidocranial Dysplasia
Open bite, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Scoliosis, Large font... ORPHA:1452
Endosteal Hyperostosis, Autosomal Dominant
Metacarpal diaphyseal endosteal sclerosis, Sclerotic vertebral body, Metatarsal diaphyseal endost... OMIM:144750
Dysspondyloenchondromatosis
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Metaphyseal enchondromatosis, Anisospondy... ORPHA:85198
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Enamel hypoplasia, Down-sloping shoulders, Recurrent fractures, Brachycephaly, Osteopenia ORPHA:91133
Maxillonasal Dysplasia
Open bite, Scoliosis, Patchy distortion of vertebrae, Short nose, Depressed nasal ridge, Midface ... ORPHA:1248
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Metaphyseal irregularity, Ovoid vertebral bodies, Postnatal growth retardation, Joint ... OMIM:608940
Lichtenstein Syndrome
Enamel hypoplasia, Osteoporosis, Carious teeth, Downturned corners of mouth, Increased susceptibi... OMIM:246550
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Genu valgum, Frontal bossing, Finger syndactyly, Abnormality of epiphysis morphology, Clinodactyl... ORPHA:166024
Osteogenesis Imperfecta, Type V
Wormian bones, Platyspondyly, Joint hypermobility, Biconcave vertebral bodies, Recurrent fracture... OMIM:610967
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Enamel hypoplasia, Scoliosis, Oligodontia, Joint hypermobility, Dental crowding, Postnatal growth... OMIM:619184
Mulibrey Nanism
Enamel hypoplasia, Frontal bossing, Dental crowding, Hypoplastic frontal sinuses, Growth delay, D... OMIM:253250
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Large iliac wing, Large fontanelles, Mandibular prognathia, Abnormality of the metacar... ORPHA:2511
Frank-Ter Haar Syndrome
Scoliosis, Mandibular prognathia, Abnormality of the metacarpal bones, Joint stiffness, Depressed... ORPHA:137834
Three M Syndrome 2
Small for gestational age, High palate, Short neck, Depressed nasal bridge, Hyperlordosis, Long p... OMIM:612921
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Abnormality of the knee, Irregular epiphyses, Irregular vertebral ... OMIM:614135
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Downturned corners of mouth, Anterior plagiocephaly, Thora... ORPHA:163649
Acrodysostosis
Open bite, Epiphyseal stippling, Short metatarsal, Open mouth, Mandibular prognathia, Abnormality... ORPHA:950
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Hip dysplasia, Scoliosis, Mandibular prognathia, Kyphosis, Hypoplastic iliac wing, Abnormality of... ORPHA:1858
Cleidocranial Dysplasia
Enamel hypoplasia, Wormian bones, Scoliosis, Narrow palate, Hypoplastic frontal sinuses, Persiste... OMIM:119600
Stickler Syndrome Type 1
Long philtrum, Platyspondyly, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal... ORPHA:90653
Mueller-Weiss Syndrome
Chondritis, Fragmented, irregular epiphyses, Limitation of movement at ankles, Facet joint arthro... ORPHA:566943
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Postnatal growth retardation, Rachitic rosary, Increased susceptibility to fra... ORPHA:289157
Mucopolysaccharidosis, Type Iva
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Mandibular prognathia, Ovoid vert... OMIM:253000
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Abnormality o... ORPHA:93351
Seckel Syndrome 1
Enamel hypoplasia, Scoliosis, Dental crowding, Proportionate short stature, Small anterior fontan... OMIM:210600
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Convex nasal ridge, Short philtrum, Thin vermilion border, Pl... OMIM:156510
Atkin-Flaitz Syndrome
Scoliosis, Genu valgum, Joint laxity, Frontal bossing, Genu recurvatum, Short palm, Kyphosis, Max... OMIM:300431
Laron Syndrome
Delayed eruption of teeth, Short toe, Abnormality of the elbow, Severe short stature, Tooth agene... ORPHA:633
Frontofacionasal Dysplasia
Brushfield spots, Hypertelorism, Short nose, Blepharophimosis, Depressed nasal ridge, Upper eyeli... ORPHA:1791
Multiple Epiphyseal Dysplasia Type 1
Hip dysplasia, Genu valgum, Disproportionate short stature, Finger joint hypermobility, Short lon... ORPHA:93308
Clark-Baraitser syndrome
Scoliosis, Genu valgum, Joint laxity, Frontal bossing, Genu recurvatum, Short palm, Kyphosis, Max... OMIM:300602
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Flat acetabular roof,... OMIM:184260
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteoporosis, Squared iliac bones, Short neck, Cellulitis, Atrophic scars, Ventral hernia, Thorac... OMIM:618000
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Multiple joint dislocation, Hip subluxation, Joint laxity, Laryngotracheomalacia, Meta... ORPHA:93360
Odontochondrodysplasia
Scoliosis, Delayed eruption of teeth, Platyspondyly, Short nose, Frontal bossing, Square pelvis b... ORPHA:166272
Progressive Pseudorheumatoid Dysplasia
Metaphyseal widening, Camptodactyly of finger, Osteoporosis, Platyspondyly, Enlarged interphalang... OMIM:208230
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Delayed eruption of teeth, Short philtrum, Platyspondyly, Cone-shaped epiphysis, Sh... ORPHA:71267
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Frontal bossing, Midface retrusion, Hip osteoarthritis, Lumbar hyperlordosis, Osteochondritis Dis... OMIM:165800
Pde4D Haploinsufficiency Syndrome
Abnormal dental enamel morphology, Short metatarsal, Short phalanx of finger, Joint laxity, Mandi... ORPHA:439822
Mucopolysaccharidosis, Type Ivb
Scoliosis, Carious teeth, Constricted iliac wing, Joint laxity, Mandibular prognathia, Ovoid vert... OMIM:253010
Mcdonough Syndrome
Open bite, Scoliosis, Short philtrum, Underdeveloped nasal alae, Mandibular prognathia, Abnormal ... ORPHA:2471
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Mandibular prognathia... OMIM:101800
Andersen Cardiodysrhythmic Periodic Paralysis
Enamel hypoplasia, Scoliosis, Oligodontia, Short metatarsal, Bulbous nose, Short phalanx of finge... OMIM:170390
Regional Odontodysplasia
Enamel hypoplasia, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, Hypoplas... ORPHA:83450
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Convex nasal ridge, Hypertelorism, Underdeveloped nasal alae, Cleft ala nasi, Wide nasal bridge, ... ORPHA:2007
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Hypoplasia of the capital femoral epiphysis, Metaphyseal irregularity, Delayed ossif... OMIM:607078
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Abnormal hip joint morphology, Mild short stature, Limited knee extensio... OMIM:600969
Hypophosphatemic Rickets, X-Linked Dominant
Metaphyseal irregularity, Frontal bossing, Flattening of the talar dome, Hypophosphatemic rickets... OMIM:307800
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Taurodontia, Finger syndactyly... ORPHA:1515
Frontometaphyseal Dysplasia 1
Scoliosis, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, High pal... OMIM:305620
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Massively thickened l... ORPHA:1798
Intermediate Osteopetrosis
Cortical sclerosis, Osteomyelitis, Erlenmeyer flask deformity of the femurs, Abnormality of denta... ORPHA:210110
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Delayed eruption of teeth, Wormian bones, Scoliosis, Narrow mouth, Midface retrusio... OMIM:613849
Metaphyseal Chondrodysplasia, Spahr Type
Hip dysplasia, Scoliosis, Carious teeth, Metaphyseal chondrodysplasia, Hyperlordosis, Disproporti... ORPHA:2501
Hypochondroplasia
Scoliosis, Hyperlordosis, Abnormality of femur morphology, Childhood onset short-limb short statu... ORPHA:429
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Blepharophimosis-Impaired Intellectual Development Syndrome
Enamel hypoplasia, Scoliosis, Joint laxity, Underdeveloped nasal alae, Short distal phalanx of fi... OMIM:619293
Oculocerebrodental Syndrome
Enamel hypoplasia, Hypoplasia of the capital femoral epiphysis, Oligodontia, Scoliosis, Hyperlord... ORPHA:557003
Multiple Osteochondromas
Radial bowing, Genu valgum, Scoliosis, Abnormality of tibia morphology, Osteolysis, Synostosis of... ORPHA:321
Familial Scheuermann Disease
Kyphosis, Abnormal form of the vertebral bodies ORPHA:3135
Trismus-Pseudocamptodactyly Syndrome
Mandibular prognathia, Symphalangism affecting the phalanges of the hand, Short stature, Hip disl... ORPHA:3377
48,Xyyy Syndrome
Enamel hypoplasia, Long philtrum, Dislocated radial head, Short neck, Radioulnar synostosis, Recu... ORPHA:99329
Muenke Syndrome
Broad thumb, Cone-shaped epiphyses of the phalanges of the hand, Midface retrusion, Short middle ... OMIM:602849
Osteogenesis Imperfecta, Type Ix
Scoliosis, Wormian bones, Platyspondyly, Decreased calvarial ossification, Kyphosis, Beaded ribs,... OMIM:259440
Phosphoserine Phosphatase Deficiency
Intrauterine growth retardation, Hypertonia, Postnatal growth retardation OMIM:614023
Rubinstein-Taybi Syndrome 2
Convex nasal ridge, Carious teeth, Narrow palate, Broad thumb, Broad hallux, Syndactyly, Retrogna... OMIM:613684
Intellectual Disability, Buenos-Aires Type
Open bite, Biparietal narrowing, Abnormality of dental morphology, Cuboid-shaped thoracolumbar ve... ORPHA:3079
Frank-Ter Haar Syndrome
Wormian bones, Short phalanx of finger, Camptodactyly, Metatarsus adductus, Cortical irregularity... OMIM:249420
17Q21.31 Microduplication Syndrome
Short philtrum, Toe syndactyly, Short nose, Anteverted nares, Abnormality of the dentition, Sanda... ORPHA:217340
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth, Abnormality of epiphysis morphology, Severe short... ORPHA:2643
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Acetabular dysplasia, Joint stiffness, Double-layered patella, Short... ORPHA:93307
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Carious teeth, Midline notch of upper alveolar ridge, Complete duplication of ... OMIM:129540
Mucopolysaccharidosis Type 4
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, Abnormality of the r... ORPHA:582
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Wormian bones, Carious teeth, Delayed closure of the anterior fontanelle, Limited elbow extension... OMIM:604922
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Abnormal form of th... ORPHA:2180
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Bulbous nose, Congenital hip dislocation, Abnormali... ORPHA:2616
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Abnormal dental enamel morphology, Hypoplasia of teeth, Narrow mouth, Dent... OMIM:257850
Hallermann-Streiff Syndrome
Scoliosis, Wormian bones, Thin vermilion border, Joint hypermobility, Narrow palate, Narrow mouth... OMIM:234100
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Short long bone, Cleft palate, Flared me... OMIM:601561
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Upper limb undergrowth, Concave nasal ridge, Abnormal cortical bone morphology, Pa... ORPHA:166277
Sclerosteosis 1
2-3 finger syndactyly, Broad ribs, Frontal bossing, Midface retrusion, Mandibular prognathia, Scl... OMIM:269500
Rhizomelic Syndrome, Urbach Type
Abnormality of the elbow, Short distal phalanx of finger, High palate, Triphalangeal thumb, Short... ORPHA:3098
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Scoliosis, Long philtrum, Narrow mouth, Dental crowding, Microretrognathia, Mandibular prognathia... OMIM:300998
Kahrizi Syndrome
Cataract, Iris coloboma, Bulbous nose, Wide nasal bridge OMIM:612713
Osteopenia-Intellectual Disability-Sparse Hair Syndrome
Bulbous nose, Frontal bossing, Midface retrusion, Joint hyperflexibility, Mandibular prognathia, ... ORPHA:2324
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
Downslanted palpebral fissures, Nasal polyposis, Hypertelorism, Iris coloboma OMIM:155145
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Limited... OMIM:271650
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Scoliosis, Thin vermilion border, Short nose, Narrow mouth, Abnormal form of the v... ORPHA:2370
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Van Maldergem Syndrome 2
Scoliosis, Joint laxity, Downturned corners of mouth, Short clavicles, High palate, Micrognathia,... OMIM:615546
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Short finger, Thick... OMIM:103580
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Beaking of vertebral bodies, Hip osteoarthritis, Irregular vertebral endplates, Sc... OMIM:604864
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Mandibular prognathia, Hemivertebrae, Hypoplastic vertebral... OMIM:263540
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Choanal stenosis, Large font... OMIM:259775
Spastic Paraplegia 18, Autosomal Recessive
Scoliosis, Spastic paraplegia, Upper limb spasticity, Kyphosis, Lower limb spasticity, Babinski sign OMIM:611225
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma, Bulbous nose, Wide nasal bridge ORPHA:171860
Van Maldergem Syndrome 1
Scoliosis, Joint laxity, Downturned corners of mouth, Short clavicles, High palate, Micrognathia,... OMIM:601390
Osteopetrosis, Autosomal Dominant 2
Hip osteoarthritis, Abnormality of the vertebral endplates, Mandibular osteomyelitis, Osteopetros... OMIM:166600
Momo Syndrome
Wide nasal base, Long philtrum, Delayed eruption of teeth, Abnormal bone ossification, Short neck... ORPHA:2563
Familial Scaphocephaly Syndrome, Mcgillivray Type
Open bite, Toe syndactyly, Midface retrusion, Mandibular prognathia, Broad hallux phalanx, Trigon... ORPHA:168624
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Short proximal phalanx of thumb, Short middle phalanx of finger, Short proxima... OMIM:251190
Pai Syndrome
Hypertelorism, Nasal polyposis, Iris coloboma, Midline defect of the nose, Downslanted palpebral ... ORPHA:1993
Spondyloepiphyseal Dysplasia, Nishimura Type
Short nose, Midface retrusion, Cone-shaped epiphysis, Osteoarthritis, Small hand, Delayed epiphys... OMIM:618618
Leukodystrophy, Hypomyelinating, 17
Widely spaced teeth, Mandibular prognathia, Flexion contracture, Gingival overgrowth, Kyphoscolio... OMIM:618006
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Wormian bones, Scoliosis, Kyphosis, Recurrent fractures, Reduced bone mineral densi... OMIM:166220
Premature Aging Syndrome, Penttinen Type
Scoliosis, Delayed eruption of teeth, Thin vermilion border, Wormian bones, Thin calvarium, Hypop... OMIM:601812
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Broad thumb, Narrow mouth, Dental crowding, Postnatal growth retardation, Increased susceptibilit... ORPHA:251028
Stuve-Wiedemann Syndrome
Pursed lips, Scoliosis, Abnormal dental enamel morphology, Short phalanx of finger, Pathologic fr... OMIM:601559
Eiken Syndrome
Cubitus valgus, Short toe, Abnormal bone ossification, Short phalanx of finger, Metaphyseal irreg... ORPHA:79106
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Scoliosis, Frontal bossing, Mandibular prognathia, Kyphosis, High palate, Arachnodactyly, Promine... OMIM:300676
Hypochondroplasia
Limited elbow extension, Frontal bossing, Childhood onset short-limb short stature, Malar flatten... OMIM:146000
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Anteverted nares, Pierre-Robin sequence, Midface retrusion, Morbus Sche... OMIM:108300
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Mandibular prognathia, Camptodactyly, Thorac... OMIM:223800
Chondrocalcinosis Due To Apatite Crystal Deposition
Costal cartilage calcification, Chondrocalcinosis, Osteoarthritis of the small joints of the hand... OMIM:118610
Mental Retardation, Buenos Aires Type
Carious teeth, Cuboid-shaped thoracolumbar vertebral bodies, Mandibular prognathia, Wide mouth, W... OMIM:249630
Cole-Carpenter Syndrome 2
Wormian bones, Platyspondyly, Lambdoidal craniosynostosis, Frontal bossing, Microretrognathia, Mi... OMIM:616294
Mental Retardation, Autosomal Recessive 41
Frontal bossing, Mandibular prognathia, Dolichocephaly, Broad nasal tip, Retrognathia, Clinodacty... OMIM:615637
Shprintzen-Goldberg Craniosynostosis Syndrome
Scoliosis, Joint hypermobility, Craniosynostosis, Narrow palate, Joint laxity, Camptodactyly, Met... OMIM:182212
Dermatoosteolysis, Kirghizian Type
Scoliosis, Oligodontia, Osteolysis, Tarsal synostosis, Abnormality of the dentition, Keratitis, A... ORPHA:1657
Familial Osteodysplasia, Anderson Type
Scoliosis, Carious teeth, Bulbous nose, Elbow dislocation, Mandibular prognathia, Increased susce... ORPHA:2769
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the knee, Genu valgum, Abnormality of the ankles, Abnormality of epiphysis morphol... ORPHA:166002
Aredyld Syndrome
Scoliosis, Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular... ORPHA:1133
Peroxisome Biogenesis Disorder 10A (Zellweger)
Hypertelorism, Epicanthus, Cataract, Downslanted palpebral fissures, Prominent nose OMIM:614882
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Depressed nasal bri... OMIM:612462
Ulnar Hemimelia
Scoliosis, Radial club hand, Short forearm, Limited shoulder movement, Duplication of phalanx of ... ORPHA:93320
Codas Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Short nose, Abnormality ... ORPHA:1458
Arthrogryposis, Distal, Type 2A
Pursed lips, Scoliosis, Restricted neck movement due to contractures, Narrow mouth, Underdevelope... OMIM:193700
Atelosteogenesis, Type Iii
Scoliosis, Cervical segmentation defect, Elbow dislocation, Hitchhiker thumb, Sandal gap, Flat ac... OMIM:108721
Cole-Carpenter Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Wormian bones, Abnormali... ORPHA:2050
Rhizomelic Dysplasia, Patterson-Lowry Type
Hyperlordosis, Genu valgum, Deformed humeral heads, Short nose, Abnormal form of the vertebral bo... ORPHA:2831
Acrodysostosis 2 With Or Without Hormone Resistance
Short metatarsal, Short nose, Anteverted nares, Short phalanx of finger, Midface retrusion, Mild ... OMIM:614613
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Stickler Syndrome
Open bite, Scoliosis, Abnormal dental enamel morphology, Micrognathia, Osteoarthritis, Depressed ... ORPHA:828
Widow'S Peak Syndrome
Mild short stature, Hip osteoarthritis, Kyphosis, Narrow iliac wing, Inguinal hernia, Recurrent p... OMIM:314570
Cerebellofaciodental Syndrome
Scoliosis, Taurodontia, Macrodontia of permanent maxillary central incisor, Laryngomalacia, Laryn... OMIM:616202
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Aplasia/... OMIM:113000
Craniometaphyseal Dysplasia, Autosomal Dominant
Erlenmeyer flask deformity of the femurs, Tooth malposition, Abnormal nasopharynx morphology, Abn... OMIM:123000
Osteolysis Syndrome, Recessive
Osteolytic defects of the distal phalanges of the hand, Osteolytic defects of the middle phalange... OMIM:259610
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Abnormal metacarpal morphology, Glossoptosis, Cleft palate, Micrognathia, Malar fl... ORPHA:166100
Epiphyseal Dysplasia, Multiple, 2
Mild short stature, Irregular epiphyses, Epiphyseal dysplasia, Flattened epiphysis, Small epiphys... OMIM:600204
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short neck, Short nose, Abnormal vertebral morphology, Thin upper lip vermilion, Short stature, C... ORPHA:2015
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Bulbous nose, Laryngotracheomalacia, Metaphyseal irregularity, Thoracic kyphosis, Mandibular prog... OMIM:271510
Primary Condylar Hyperplasia
Abnormal mandible condylar process morphology, Abnormality of the temporomandibular joint, Abnorm... ORPHA:477781
Dental Ankylosis
Clinodactyly of the 5th finger, Mandibular prognathia, Abnormal dental enamel morphology, Tooth a... ORPHA:1077
Osteochondrosis Of The Metatarsal Bone
Abnormality of the fifth metatarsal bone, Chondritis, Abnormality of the fourth metatarsal bone, ... ORPHA:564003
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Short neck, Flattened proximal radial ep... OMIM:271530
Short Syndrome
Delayed eruption of teeth, Joint laxity, Downturned corners of mouth, Underdeveloped nasal alae, ... OMIM:269880
Arthrogryposis, Distal, Type 2B1
Scoliosis, Long philtrum, Rocker bottom foot, Camptodactyly of finger, Prominent nasolabial fold,... OMIM:601680
Temtamy Preaxial Brachydactyly Syndrome
Oligodontia, Tarsal synostosis, Narrow mouth, Partial duplication of the proximal phalanx of the ... ORPHA:363417
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness, Short stature ORPHA:2871
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Postnatal growth retardation, Short distal phalanx of finger, Ulnar bowing, Na... OMIM:210720
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Wide nasal base, Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Finger syndac... OMIM:264475
Hall-Riggs Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Platyspondyly, Downturne... ORPHA:2107
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Pointed chin, Mild short stature, Mandibular prognathia, Tapered finger, High palate, Anteverted ... OMIM:618292
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Postaxial hand polydactyly, Vaginal hernia, Abnorma... ORPHA:2916
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... ORPHA:93352
Osteoglophonic Dysplasia
Craniosynostosis, Short metatarsal, Short phalanx of finger, Mandibular prognathia, Increased sus... OMIM:166250
Geroderma Osteodysplastica
Osteoporosis, Scoliosis, Platyspondyly, Abnormal bone ossification, Abnormality of epiphysis morp... ORPHA:2078
Pycnodysostosis
Wormian bones, Narrow palate, Persistent open anterior fontanelle, Short distal phalanx of finger... ORPHA:763
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Scoliosis, Short philtrum, Short nose, Mandibular prognathia, Everted lower lip vermilion, Kyphos... ORPHA:2429
Diastrophic Dwarfism
Scoliosis, Elbow dislocation, Abnormality of the metacarpal bones, Increased bone mineral density... ORPHA:628
Fryns Macrocephaly
Short philtrum, Everted lower lip vermilion, Wide mouth, Macrodontia of permanent maxillary centr... OMIM:600302
Craniofaciofrontodigital Syndrome
Long philtrum, Joint hypermobility, Cubitus valgus, Short nose, Frontal bossing, Hypoplastic pelv... OMIM:114620
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Osteogenesis Imperfecta, Type Xi
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Abnormality of the dent... OMIM:610968
Auriculocondylar Syndrome 2
Short mandibular rami, Narrow mouth, Ankylosis, Dental crowding, Mandibular condyle aplasia, Clef... OMIM:614669
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Aplasia/Hypoplasia of fingers, Postaxial hand polydactyly, Toe syndactyly, Short neck, Frontal bo... ORPHA:3082
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Scoliosis, Long philtrum, Thin vermilion border, Genu valgum, Hyperlordosis, Congenital hip dislo... OMIM:616007
Sponastrime Dysplasia
Scoliosis, Hip subluxation, Hypoplasia of the nasal bone, Metaphyseal irregularity, Joint laxity,... ORPHA:93357
Harrod Syndrome
Scoliosis, Narrow mouth, Pointed chin, Abnormal shoulder morphology, Kyphosis, Joint hyperflexibi... ORPHA:2115
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Non-Distal Trisomy 10Q
Scoliosis, Convex nasal ridge, Short nose, Frontal bossing, Joint hyperflexibility, Everted lower... ORPHA:1695
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 4
Hypertelorism, Epicanthus, Depressed nasal bridge OMIM:616911
Osteoglosphonic Dysplasia
Scoliosis, Craniosynostosis, Abnormal bone ossification, Abnormal form of the vertebral bodies, R... ORPHA:2645
Mental Retardation, Autosomal Recessive 61
Scoliosis, Bulbous nose, Mandibular prognathia, Conical tooth, High palate, Tapered finger, Promi... OMIM:617773
Nail-Patella Syndrome
Enamel hypoplasia, Scoliosis, Abnormality of tibia morphology, Abnormality of the elbow, Iliac ho... ORPHA:2614
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Scoliosis, Oligodontia, Hypoplasia of teeth, Narrow mouth, Downturned corners of mouth, Joint lax... ORPHA:391408
Schaaf-Yang Syndrome
Scoliosis, Rocker bottom foot, Arthrogryposis multiplex congenita, Abnormality of the philtrum, O... OMIM:615547
Autosomal Recessive Distal Osteolysis Syndrome
Osteolysis, Midface retrusion, Abnormality of the dentition, Short distal phalanx of finger, Shor... ORPHA:2776
Codas Syndrome
Enamel hypoplasia, Scoliosis, Congenital hip dislocation, Short phalanx of finger, Omphalocele, A... OMIM:600373
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Joint swelling, Weight loss, Joint stiffness, Oligoarthritis, Flex... ORPHA:85408
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Deviated nasal septu... ORPHA:139474
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Bulbous nose, Metatarsal osteolysis, Split hand, Inte... OMIM:259600
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Short neck, Underdeveloped nasal alae, Diastema, Brachydactyly, Short stature, Dental malocclusio... ORPHA:436245
Cohen Syndrome
Joint hypermobility, Short metatarsal, Open mouth, Delayed puberty, Small for gestational age, Ch... OMIM:216550
Cat-Eye Syndrome
Downslanted palpebral fissures, Chorioretinal coloboma, Hypertelorism, Iris coloboma ORPHA:195
Osteogenesis Imperfecta
Scoliosis, Wormian bones, Abnormal dental enamel morphology, Carious teeth, Abnormality of long b... ORPHA:666
Dysosteosclerosis
Oligodontia, Delayed closure of the anterior fontanelle, Natal tooth, Increased susceptibility to... OMIM:224300
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Kyphosis, Short mandibular rami, Dental malocclusion, Tongue atrophy OMIM:141300
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Long philtrum, Short nose, Dental crowding, Pierre-Robin sequence, Midface retrusion, Everted low... OMIM:617877
Gorlin Syndrome
Scoliosis, Carious teeth, Frontal bossing, Mandibular prognathia, Wide nasal bridge, Hemivertebra... ORPHA:377
Angel-Shaped Phalangoepiphyseal Dysplasia
Hip osteoarthritis, Delayed ossification of carpal bones, Premature osteoarthritis, Short stature... OMIM:105835
Geroderma Osteodysplasticum
Osteoporosis, Femoral bowing, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Beaking o... OMIM:231070
Mcdonough Syndrome
Short philtrum, Mandibular prognathia, Radial deviation of finger, Furrowed tongue, Clinodactyly,... OMIM:248950
Mental Retardation, Autosomal Dominant 53
Downslanted palpebral fissures, Hypertelorism, Epicanthus OMIM:617798
Eiken Syndrome
Oligodontia, Pseudoepiphyses, Flat acetabular roof, Delayed tarsal ossification, Long thumb, Dela... OMIM:600002
Achondrogenesis Type 1B
Long philtrum, Disproportionate short stature, Short neck, Short nose, Abnormal enchondral ossifi... ORPHA:93298
Terminal Osseous Dysplasia
Depressed nasal tip, Hypertelorism, Iris coloboma, Epicanthus, Ptosis, Telecanthus OMIM:300244
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Large fontane... ORPHA:1832
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Scoliosis, Short nose, Deep philtrum, Contractures of the large joints, Osteopenia, Thin upper li... ORPHA:329178
Hajdu-Cheney Syndrome
Foot acroosteolysis, Wormian bones, Joint laxity, Pathologic fracture, High palate, Short neck, M... OMIM:102500
Achondrogenesis Type 1A
Long philtrum, Short neck, Short nose, Abnormal enchondral ossification, Frontal bossing, Femoral... ORPHA:93299
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Rachitic rosary, Bowing of the l... ORPHA:89936
Melnick-Needles Syndrome
Scoliosis, Omphalocele, Short distal phalanx of finger, Short clavicles, Abnormality of the ribs,... ORPHA:2484
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Progressive cataract OMIM:604219
Mental Retardation, X-Linked 91
Cubitus valgus, Short nose, Clinodactyly, Small hand, Short foot, High palate, Short 5th finger, ... OMIM:300577
Acrootoocular Syndrome
Wide nasal base, Delayed eruption of teeth, Prominent calcaneus, Short toe, Short finger, Dental ... ORPHA:2980
Temtamy Syndrome
Chorioretinal coloboma, Convex nasal ridge, Hypertelorism, Iris coloboma, Telecanthus ORPHA:1777
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Flattened metatarsal heads, Hip osteoarthritis, Flattened metacarpal heads, Short ... OMIM:271600
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Proportionate short stature, Osteoarthritis, Abnormality of epiphysis morphology ORPHA:93283
Craniometaphyseal Dysplasia, Autosomal Recessive
Abnormal nasopharynx morphology, Nasal congestion, Mandibular prognathia, Wide nasal bridge, Club... OMIM:218400
Anophthalmia Plus Syndrome
Hypertelorism, Blepharophimosis, Choanal atresia, Iris coloboma, Eyelid coloboma, Abnormal nasal ... ORPHA:1104
Sclerosteosis 2
Frontal bossing, Cutaneous finger syndactyly, Mandibular prognathia, Short finger OMIM:614305
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Dental malocclusion, Malar flattening, Widely spaced teeth, Short stature OMIM:616108
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Slender build, Genu valgum, Cubitus valgus, Congenital generalized lipodystrophy, Slender long bo... OMIM:608154
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Oligodontia, Platyspondyly, Mandibular prognathia, Herniation of interve... OMIM:601216
Spondylocarpotarsal Synostosis Syndrome
Enamel hypoplasia, Scoliosis, Tarsal synostosis, C2-C3 subluxation, Short neck, Vertebral segment... OMIM:272460
Progeroid Syndrome, Petty Type
Shagreen patch, Wide anterior fontanel, Mandibular prognathia, Everted lower lip vermilion, Lipoa... ORPHA:2963
Dysosteosclerosis
Delayed eruption of teeth, Abnormal dental enamel morphology, Platyspondyly, Craniofacial hyperos... ORPHA:1782
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
Hypertelorism, Thick nasal alae, Wide nasal bridge, Long palpebral fissure, Broad nasal tip, Thin... OMIM:618147
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Absent primary metaphy... OMIM:156530
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Large iliac wing, Large fontanelles, Increased bone mineral density, Spina bifida occu... ORPHA:2780
Grant Syndrome
Open bite, Wormian bones, Abnormality of the glenoid fossa, Large fontanelles, Frontal bossing, J... ORPHA:2097
Ankylosing Vertebral Hyperostosis With Tylosis
Abnormal pelvis bone morphology, Osteoarthritis, Abnormality of the vertebral column, Obesity ORPHA:2206
Intellectual Disability, Birk-Barel Type
Short philtrum, Open mouth, Broad philtrum, Congenital finger flexion contractures, High, narrow ... ORPHA:166108
Permanent Molars, Secondary Retention Of
Mandibular prognathia, Clinodactyly of the 5th finger, Abnormality of the dentition OMIM:157950
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Brachytelephalangic Chondrodysplasia Punctata
Tracheal calcification, Epiphyseal stippling, Proportionate short stature, Short distal phalanx o... ORPHA:79345
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaph... ORPHA:94089
Acromesomelic Dysplasia, Maroteaux Type
Scoliosis, Hyperlordosis, Disproportionate short stature, Frontal bossing, Abnormal form of the v... ORPHA:40
Ck Syndrome
Prominent nasal bridge, Slender build, Scoliosis, Hyperlordosis, Joint hypermobility, Dental crow... OMIM:300831
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Platyspondyly, Limited elbow extension, Flared iliac wing, Rhizomelia, Irregular s... OMIM:602111
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paresis, Vocal cord paralysis OMIM:158580
Cat-Eye Syndrome (Type I)
Downslanted palpebral fissures, Iris coloboma DECIPHER:42
Craniolenticulosutural Dysplasia
Scoliosis, Thin vermilion border, Carious teeth, Hypoplasia of teeth, Large fontanelles, High pal... ORPHA:50814
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Metatropic Dysplasia
Scoliosis, Camptodactyly of finger, Abnormality of the ribs, Hypoplastic cervical vertebrae, Abno... ORPHA:2635
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Dyggve-Melchior-Clausen Syndrome, X-Linked
Distal ulnar hypoplasia, Scoliosis, Hypoplastic sacrum, Carpal bone hypoplasia, Mandibular progna... OMIM:304950
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Gingival overgrowth, Cleft palate, Micrognathia OMIM:119540
Ectodermal Dysplasia 13, Hair/Tooth Type
Hypertelorism, Sparse eyelashes, Wide nasal bridge, Thin eyebrow, Depressed nasal bridge OMIM:617392
Cockayne Syndrome Type 2
Enamel hypoplasia, Scoliosis, Delayed eruption of primary teeth, Short chin, Hypoplasia of the pr... ORPHA:90322
Xfe Progeroid Syndrome
Enamel hypoplasia, Convex nasal ridge, Scoliosis, Absence of subcutaneous fat, Severe short statu... OMIM:610965
Osteochondrosis Of The Tarsal Bone
Chondritis, Flattening of the talar dome, Abnormal tarsal ossification, Tarsal sclerosis, Tarsal ... ORPHA:563991
Developmental And Epileptic Encephalopathy 73
Hip dysplasia, Scoliosis, Short nose, Short chin, Midface retrusion, Flexion contracture, Inguina... OMIM:618379
Pfeiffer Syndrome
Broad thumb, Choanal stenosis, Dental crowding, Mandibular prognathia, Choanal atresia, High pala... OMIM:101600
48,Xxyy Syndrome
Open bite, Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Hip dyspl... ORPHA:10
49,Xxxxy Syndrome
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, Mandib... ORPHA:96264
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract, Ptosis ORPHA:1473
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Omphalocele, Hypoplastic ischia, Narrow greater sciatic notch, Short... OMIM:228520
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Short phalanx of finger, Lambdoidal craniosynostosis... OMIM:614188
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Bulbous nose, Broad metatarsal, Trigonocephaly, Brachycephaly, Bifid nasal tip, Bifid nose, Micro... OMIM:275595
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Wide nasal base, Craniosynostosis, Abnormal form of the vertebr... ORPHA:3134
Pierpont Syndrome
Scoliosis, Thin vermilion border, Prominent fingertip pads, Broad philtrum, Short neck, Wide nose... OMIM:602342
Cortical Blindness, Retardation, And Postaxial Polydactyly
Microretrognathia, Long philtrum, Short nose, Frontal bossing OMIM:218010
Potocki-Lupski Syndrome
Scoliosis, Dental crowding, Mandibular prognathia, Wide mouth, Smooth philtrum, Prominent nasal t... OMIM:610883
Marshall Syndrome
Hypoplastic frontal sinuses, High palate, Micrognathia, Osteoarthritis, Depressed nasal bridge, H... ORPHA:560
Sjogren-Larsson Syndrome
Enamel hypoplasia, Thoracic kyphosis, Short stature OMIM:270200
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Broad thumb, Absent nasal bridge, Joint laxity, Midface retrusion, Rhizomelia, Man... OMIM:612813
48,Xxxy Syndrome
Open bite, Scoliosis, Carious teeth, Abnormal dental enamel morphology, Elbow dislocation, Mandib... ORPHA:96263
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Short nose, Narrow mouth, Short foot, Wide nasal bridge, Short metacarpal... OMIM:614078
Alg2-Cdg
Cataract, Iris coloboma ORPHA:79326
Smith-Magenis Syndrome
Scoliosis, Open mouth, Mandibular prognathia, Failure to thrive in infancy, Abnormal tracheobronc... ORPHA:819
Acromicric Dysplasia
Long philtrum, Abnormality of femur morphology, Narrow mouth, Bulbous nose, Short nose, Abnormali... ORPHA:969
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Microcornea, Iris coloboma OMIM:601706
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Convex nasal ridge, Carious teeth OMIM:614564
Cranio-Osteoarthropathy
Abnormality of the knee, Abnormality of tibia morphology, Joint swelling, Large fontanelles, Abno... ORPHA:1525
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract OMIM:610202
Jackson-Weiss Syndrome
Convex nasal ridge, Short metatarsal, Toe syndactyly, Frontal bossing, Midface retrusion, Mandibu... ORPHA:1540
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Delayed closure of the anterior fontanelle, Large fontanelles, Dental crowding, Campto... OMIM:300373
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Increas... ORPHA:457395
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Scoliosis, Long philtrum, Short nose, Unilambdoid synostosis, Midface retrusion, Wide nasal bridg... OMIM:618577
Renpenning Syndrome
Short philtrum, Abnormal thumb morphology, Narrow mouth, Mandibular prognathia, Growth delay, Sev... ORPHA:3242
Spondylometaphyseal Dysplasia, East African Type
Metaphyseal widening, Disproportionate short stature, Ovoid vertebral bodies, Short long bone, Co... OMIM:611702
Diastrophic Dysplasia
Costal cartilage calcification, Hypoplastic cervical vertebrae, Neonatal short-limb short stature... OMIM:222600
Beukes Hip Dysplasia
Hip dysplasia, Shallow acetabular fossae, Avascular necrosis of the capital femoral epiphysis, Os... OMIM:142669
Craniolenticulosutural Dysplasia
Scoliosis, Carious teeth, Delayed closure of the anterior fontanelle, Hypoplasia of teeth, Joint ... OMIM:607812
Apert Syndrome
Anomalous tracheal cartilage, Narrow palate, Choanal stenosis, Large fontanelles, Mandibular prog... OMIM:101200
Pfeiffer Syndrome
Hip dysplasia, Hyperlordosis, Short philtrum, Broad thumb, Short neck, Open mouth, Synostosis of ... ORPHA:710
Schwartz-Jampel Syndrome
Pursed lips, Wormian bones, Scoliosis, Arthrogryposis multiplex congenita, Narrow mouth, Elbow di... ORPHA:800
Hamamy Syndrome
Craniosynostosis, Long toe, High palate, Micrognathia, Short 2nd finger, Hip dysplasia, Long phil... OMIM:611174
Craniosynostosis, Herrmann-Opitz Type
Convex nasal ridge, Craniosynostosis, Short nose, Finger syndactyly, Split hand, Brachydactyly, I... ORPHA:2145
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Mandibular prognathia, Unilateral cleft lip, Abnormal nasal base, ... ORPHA:1919
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Short nose, Dental crowding, Kyphosis, 2-3 toe syndactyly, Thick vermilion border, Hypodontia, Br... OMIM:617061
Mental Retardation, X-Linked, Syndromic 12
Mandibular prognathia, Wide mouth, Thick upper lip vermilion, Postnatal growth retardation, Brach... OMIM:309545
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Obliteration of the calvarial diploe, Taurodontia, Finger clinodactyly, Front... ORPHA:3352
Mental Retardation Syndrome, Belgian Type
Cleft ala nasi, Mandibular prognathia, Eunuchoid habitus, Wide nose OMIM:249599
Marfanoid Habitus With Microcephaly And Glomerulonephritis
Joint laxity, Mandibular prognathia, Kyphosis, Glomerulonephritis, High palate, High, narrow pala... OMIM:248760
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Abnormal dental enamel morphology, Biparietal narrowing, Synostosis of carpal bones, F... ORPHA:1005
Cenani-Lenz Syndrome
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... ORPHA:3258
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Macroglossia, Bulbous nose, Joint laxity, Mandibular prognathia, Kyphosis, Wide mouth, Short foot... OMIM:300354
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Lacrimal duct atresia, Iris coloboma ORPHA:139450
Aarskog-Scott Syndrome
Oral cleft, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum, Joint hyperfle... ORPHA:915
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Gastrointestinal inflammation, Carious teeth, Atrophic scars, Oral mucosal bli... ORPHA:79405
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Severe short stature, Delayed eruption of permanent tee... OMIM:112350
Multicentric Carpotarsal Osteolysis Syndrome
Metatarsal osteolysis, Metacarpal osteolysis, Carpal osteolysis, Osteolysis involving tarsal bone... OMIM:166300
Cutis Laxa, Autosomal Recessive, Type Iia
Scoliosis, Long philtrum, Carious teeth, Joint hypermobility, Narrow mouth, Anteverted nares, Sho... OMIM:219200
Smith-Magenis Syndrome
Scoliosis, Midface retrusion, Mandibular prognathia, Abnormality of the larynx, Short palm, Abnor... OMIM:182290
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Tarsal synostosis, Wide anterior fontanel, Abnormality of dent... ORPHA:85199
Hypomelanosis Of Ito
Cataract, Hypertelorism, Iris coloboma, Epicanthus OMIM:300337
Microcephaly-Glomerulonephritis-Marfanoid Habitus Syndrome
Joint laxity, Thoracic kyphosis, Mandibular prognathia, Glomerulonephritis, High palate, Arachnod... ORPHA:2172
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Short philtrum, Mandibular prognathia, Kyphosis, Cleft palate, Prominent metopic ridge ORPHA:85317
Pettigrew Syndrome
Scoliosis, Mandibular prognathia, Flexion contracture, Wide mouth, Thick vermilion border, Promin... OMIM:304340
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Decreased fibular diameter, Small for gestational age, Multiple prenatal fractures... OMIM:616897
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Short neck, Taurodontia, Frontal bossing, Short sternum... OMIM:157980
Scarf Syndrome
Enamel hypoplasia, Long philtrum, Lambdoidal craniosynostosis, Short chin, Abnormal form of the v... OMIM:312830
Mucolipidosis Iii Alpha/Beta
Scoliosis, Irregular carpal bones, Craniosynostosis, Broad ribs, Split hand, Mandibular prognathi... OMIM:252600
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Enlargement of the ankles, Metaphyseal irregularity, Sparse bone trabeculae, R... OMIM:600081
Oculodentodigital Dysplasia
Enamel hypoplasia, 3-4 toe syndactyly, Carious teeth, Underdeveloped nasal alae, Vertebral hypero... OMIM:164200
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Scoliosis, Delayed closure of the anterior fontanelle, ... OMIM:311300
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
High palate, Mandibular prognathia, Arthrogryposis multiplex congenita, Dental malocclusion OMIM:608931
Lowry-Maclean Syndrome
Craniosynostosis, Downturned corners of mouth, Choanal atresia, Small anterior fontanelle, Trigon... ORPHA:2409
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Femoral bowing, Platyspondyly, Craniosynostosis, Short neck, Short nose, Overlapping toe, Narrow ... OMIM:616723
Gapo Syndrome
Long philtrum, Delayed eruption of teeth, Frontal bossing, Abnormal form of the vertebral bodies,... ORPHA:2067
Chst3-Related Skeletal Dysplasia
Scoliosis, Long philtrum, Genu valgum, Delayed eruption of teeth, Cubitus valgus, Enlarged joints... ORPHA:263463
Raynaud-Claes Syndrome
Midface retrusion, Scoliosis, Mandibular prognathia OMIM:300114
Myopathy, Myofibrillar, 8
Scoliosis, Joint hypermobility, Distal joint laxity, Joint contracture of the 5th finger, Achille... OMIM:617258
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Osteogenesis Imperfecta, Type X
Scoliosis, Genu valgum, Platyspondyly, Broad ribs, Joint laxity, Generalized joint laxity, Midfac... OMIM:613848
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Carious teeth, Craniosynostosis, Multiple joint dislocation, Phal... ORPHA:536467
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Iris coloboma, Coloboma OMIM:610023
Rhizomelic Chondrodysplasia Punctata, Type 1
Epiphyseal stippling, Frontal bossing, Calcific stippling of infantile cartilaginous skeleton, Co... OMIM:215100
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Loeys-Dietz Syndrome 5
Joint hypermobility, Failure to thrive in infancy, High palate, Osteoarthritis, Congenital finger... OMIM:615582
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Chronic rhinitis due to narrow nasal airway, Mandibular prognathia, R... OMIM:259710
Acrocephalopolysyndactyly Type Iii
Preaxial hand polydactyly, Broad thumb, Craniosynostosis, Short neck, Dental crowding, Oxycephaly... OMIM:101120
Acrocephalopolydactyly
Premature closure of fontanelles, Abnormality of the mouth, Short nose, Oxycephaly, Genu recurvat... ORPHA:221054
Familial Calcium Pyrophosphate Deposition
Joint swelling, Chondrocalcinosis, Abnormality of the intervertebral disk, Joint dislocation, Cal... ORPHA:1416
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Prominent nasolabial fold, Short nose, Downturned corners of mouth, Open mouth, Recurrent upper r... ORPHA:391372
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border, Hepatitis, Broad nasal tip, Recurrent r... ORPHA:363523
Osteogenesis Imperfecta, Type I
Otosclerosis, Wormian bones, Joint hypermobility, Biconcave flattened vertebrae, Recurrent fractu... OMIM:166200
Robinow Syndrome
Scoliosis, Dental crowding, Short distal phalanx of finger, Oral cleft, Hemivertebrae, Triangular... ORPHA:97360
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Joint laxity, Short distal phalanx of finger, High palate, High, narrow palate... OMIM:218330
Zimmermann-Laband Syndrome
Joint hypermobility, Macroglossia, Gingival fibromatosis, Bulbous nose, Overtubulated long bones,... ORPHA:3473
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Long philtrum, Thin vermilion border, Craniosynostosis, Toe syndactyly, Short nose, Anteverted na... ORPHA:171839
Kohlschutter-Tonz Syndrome-Like
Enamel hypoplasia, Scoliosis, Carious teeth, Joint hypermobility, Overweight, Yellow-brown discol... OMIM:619229
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Scoliosis, Joint hypermobility, Skin rash, Craniosynostosis, Frontal bossing, Eczematoid dermatit... OMIM:147060
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Scoliosis, Hyperlordosis, Genu valgum, Mild short stature, Ovoid vertebral bodies, Kyphosis, Abno... ORPHA:93315
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Amelogenesis imperfecta, Joint hypermobility, Congenital hip dislocation, Hypo... OMIM:617052
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Anteverted nares, Short finger, Kyphosis, Sclerosis of skull base... OMIM:313420
Robinow Syndrome, Autosomal Dominant 3
Scoliosis, Broad thumb, Short phalanx of finger, Downturned corners of mouth, Camptodactyly, Omph... OMIM:616894
Donnai-Barrow Syndrome
Hypertelorism, Short nose, Iris coloboma, Proptosis, Downslanted palpebral fissures, Depressed na... ORPHA:2143
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Hip dysplasia, Short philtrum, Downturned corners of mouth, Anteverted nares, Mandibular prognath... OMIM:618672
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Platyspondyly, Genu valgum, Thoracic kyphosis, Irregular vertebral endplates, Lumbar h... OMIM:609223
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Short nose, Short chin, Growth delay, Pneumonia, High palate, Retrognathia, Anteverted nares, Chr... OMIM:614069
Achondrogenesis
Long philtrum, Short neck, Short nose, Abnormal enchondral ossification, Frontal bossing, Umbilic... ORPHA:932
Carpenter Syndrome 1
Scoliosis, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Omphalocele, Metatarsus... OMIM:201000
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Overlapping fingers, Scoliosis, Arthrogryposis multiplex congenita, Congenital hip dislocation, M... OMIM:618291
Sotos Syndrome 3
Mandibular prognathia, Prominent nose OMIM:617169
Peripheral Dysostosis
Joint stiffness, Short stature, Cone-shaped epiphyses of the phalanges of the hand, Clinodactyly ... ORPHA:1795
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Short neck, Anteverted nares, Frontal bossing, Midface retrusion, Phala... OMIM:264180
Rafiq Syndrome
Hypertelorism, Wide nasal bridge, Broad eyebrow, Downslanted palpebral fissures, Long eyebrows, P... OMIM:614202
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Scoliosis, Platyspondyly, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the ... OMIM:619269
Eng-Strom Syndrome
Scoliosis, Camptodactyly of finger, Short stature, Intrauterine growth retardation, Brachydactyly... ORPHA:1937
Spastic Paraplegia 50, Autosomal Recessive
Short philtrum, Drooling, Bulbous nose, Mandibular prognathia, Wide mouth, Wide nasal ridge, High... OMIM:612936
Harel-Yoon Syndrome
Hip dysplasia, Scoliosis, Short nose, Frontal bossing, Mandibular prognathia, Micrognathia OMIM:617183
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Disproportionate short-limb short s... ORPHA:174
Lowry-Maclean Syndrome
Delayed eruption of teeth, Convex nasal ridge, Craniosynostosis, Cleft palate, Intrauterine growt... OMIM:600252
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Thick vermilion border, Short 1s... OMIM:601957
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Atopic dermatitis, Cone-shaped epiphyses of the toes, Hypoplasia of the maxilla, Cone-shaped epip... ORPHA:397973
Myofibrillar Myopathy 10
Flexion contracture of finger, Mandibular prognathia, Kyphosis, Sandal gap, Knee flexion contract... OMIM:619040
Gm1 Gangliosidosis
Scoliosis, Narrow mouth, Mandibular prognathia, Weight loss, Joint stiffness, Abnormality of the ... ORPHA:354
Mmep Syndrome
Mandibular prognathia, Oral cleft, Split foot, Triphalangeal thumb, Median cleft lip ORPHA:3434
Seckel Syndrome
Hip dysplasia, Convex nasal ridge, Abnormal dental enamel morphology, Craniosynostosis, Scoliosis... ORPHA:808
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Wormian bones, Short metatarsal, Narrow mouth, Downturned corne... OMIM:211910
Crouzon Disease
Convex nasal ridge, Hypertelorism, Iris coloboma, Choanal atresia, Proptosis, Conjunctivitis, Ptosis ORPHA:207
Frontofacionasal Dysplasia
Hypertelorism, Short nose, Blepharophimosis, Underdeveloped nasal alae, Midline defect of the nos... OMIM:229400
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Congenital Hydrocephalus
Downslanted palpebral fissures, Iris coloboma, Bulbous nose ORPHA:2185
Progressive Osseous Heteroplasia
Limitation of joint mobility, Ectopic ossification in muscle tissue, Brachydactyly, Osteoarthritis ORPHA:2762
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Laryngotracheomalacia, Abnormal vertebral morphology, Aplasia/hypop... ORPHA:93346
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Atrophic scars, Growth delay, Scarring alopecia of scalp, Oral mucosal blisters ORPHA:79402
Multiple Epiphyseal Dysplasia Type 5
Hip dysplasia, Genu valgum, Abnormality of upper limb epiphysis morphology, Intervertebral disc d... ORPHA:93311
Lujan-Fryns Syndrome
Scoliosis, Camptodactyly of finger, Short philtrum, Dental crowding, Joint hyperflexibility, Abno... ORPHA:776
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Syndactyly OMIM:613576
Anauxetic Dysplasia 3
Joint hypermobility, Oligodontia, Hip subluxation, Femoral bowing, Depressed nasal bridge, Genu v... OMIM:618853
Marshall Syndrome
Wide tufts of distal phalanges, Irregular distal femoral epiphysis, Ulnar bowing, Micrognathia, D... OMIM:154780
Femoral-Facial Syndrome
Scoliosis, Oral cleft, Aplasia/Hypoplasia of the tibia, Abnormality of the ribs, Abnormality of p... ORPHA:1988
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Trismus, Joint stiffness, Kyphoscol... OMIM:616583
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Bulbous nose, Downturned corners of mouth, Open mouth, Mandibular prognathia, Camptodactyly, High... ORPHA:369891
Lessel-Kreienkamp Syndrome
Open mouth, Frontal bossing, Wide nasal bridge, Thin upper lip vermilion, Plagiocephaly, Wide cra... OMIM:619149
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Abnormal dental enamel morphology, Large fontanelles, Mandibular prognathia, Choanal a... ORPHA:2658
Hereditary Neuropathy With Liability To Pressure Palsies
Scoliosis, Vocal cord paralysis ORPHA:640
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Underdeveloped nasal alae, Mandibular prognathi... ORPHA:2710
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Scoliosis, Platyspondyly, Hip osteoarthritis, Irregular epiphyses, Kyphosis, Hypoplastic iliac wi... OMIM:313400
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Bifid distal phalanx of toe, Hypoplastic sacrum, Broad thumb, Dental crowding, Triangu... OMIM:268310
3P25.3 Microdeletion Syndrome
Scoliosis, Broad thumb, Downturned corners of mouth, Mandibular prognathia, Postaxial polydactyly... ORPHA:435638
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Short 3rd metacarpal, Epiphyseal stippling, Coronal cleft vertebrae, Midfac... OMIM:118651
Goldberg-Shprintzen Megacolon Syndrome
Hypertelorism, Iris coloboma, Wide nasal bridge, Ptosis, Sparse and thin eyebrow ORPHA:66629
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Short stature, Hypodontia OMIM:616029
Kabuki Syndrome 2
Depressed nasal tip, Broad nasal tip, Joint laxity, Short columella, Natal tooth, Recurrent otiti... OMIM:300867
Fibrochondrogenesis 2
Platyspondyly, Short nose, Anteverted nares, Midface retrusion, Hypoplastic ilia, Metaphyseal cup... OMIM:614524
Acrocraniofacial Dysostosis
Short philtrum, Craniosynostosis, Abnormality of the vertebral column, Oxycephaly, Natal tooth, S... OMIM:201050
Microphthalmia, Isolated, With Coloboma 9
Hypertelorism, Narrow palpebral fissure, Iris coloboma, Ocular anterior segment dysgenesis, Ptosi... OMIM:615145
Burn-Mckeown Syndrome
Hypertelorism, Short nose, Bilateral choanal atresia, Wide nasal bridge, Short palpebral fissure,... ORPHA:1200
Fanconi Anemia, Complementation Group S
Prominent nasal bridge, Narrow palate, Thick upper lip vermilion, Proximal placement of thumb, Cl... OMIM:617883
Distal Trisomy 18Q
Camptodactyly of finger, Carious teeth, Short neck, Short nose, Abnormality of dental morphology,... ORPHA:1716
Developmental Dysplasia Of The Hip 2
Hip dysplasia, Hip osteoarthritis, Coxa valga, Arthritis OMIM:615612
Faciocardiomelic Syndrome
Long philtrum, Hyperplasia of the maxilla, Hypoplastic pelvis, Polydactyly, Osteopenia, Wide mout... OMIM:612731
Greenberg Dysplasia
Tracheal calcification, Epiphyseal stippling, Short phalanx of finger, Omphalocele, Sandal gap, A... OMIM:215140
Mental Retardation, Autosomal Dominant 23
Scoliosis, Long philtrum, Broad distal phalanx of finger, Hyperlordosis, Drooling, Downturned cor... OMIM:615761
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Genu valgum, Abnormality of dental morphology, Hypodontia, Alveolar pr... ORPHA:2972
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Decreased body weight, Small for gestational age, Brachycephaly, Short sta... ORPHA:93950
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Pneumonia, High palate, Short neck, Scaphocephaly, Wide nose, Obesity... OMIM:300209
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Severe short-limb dwarfism, Abnormal form of the verte... ORPHA:1426
Osteoarthritis Susceptibility 3
Osteoarthritis, Osteoarthritis of the first carpometacarpal joint, Joint stiffness, Osteoarthriti... OMIM:607850
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Atopic dermatitis, Dental crowding, Mandibular prognathia, Cone-shaped epiphysis, Hallux valgus, ... OMIM:606772
Cerebellar-Facial-Dental Syndrome
Scoliosis, Long philtrum, Short neck, Taurodontia, Midface retrusion, Macrodontia of permanent ma... ORPHA:444072
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Wormian bones, Absent glenoid fossa, Epiphyseal stippling, Narrow mouth, Mandibular pr... ORPHA:96334
Familial Avascular Necrosis Of Femoral Head
Abnormal femoral neck/head morphology, Hip osteoarthritis, Flattened femoral head, Limited hip mo... ORPHA:86820
Horizontal Gaze Palsy With Progressive Scoliosis
Scoliosis, Kyphosis, Short neck ORPHA:2744
Delayed Membranous Cranial Ossification
Upslanted palpebral fissure, Hypertelorism, Depressed nasal ridge ORPHA:3034
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Squared iliac bones, Wormian bones, Short nose, Large fontanelles, Frontal bossing, Deep philtrum... OMIM:613320
Spondyloenchondrodysplasia
Delayed eruption of teeth, Platyspondyly, Skin rash, Midface retrusion, Hypoplastic ilia, Kyphosi... ORPHA:1855
Progeria-Short Stature-Pigmented Nevi Syndrome
Lack of facial subcutaneous fat, Fragile teeth, Hypodontia, Short distal phalanx of finger, Delay... ORPHA:2959
Orofaciodigital Syndrome Type 5
Enamel hypoplasia, Scoliosis, Accessory oral frenulum, Postaxial polysyndactyly of foot, Postaxia... ORPHA:2919
Scheie Syndrome
Genu valgum, Mandibular prognathia, Spondylolisthesis, Short neck, Wide nose, Depressed nasal bridge OMIM:607016
Dysplasia Epiphysealis Hemimelica
Genu valgum, Tarsal synostosis, Abnormality of epiphysis morphology, Irregular epiphyses, Flatten... ORPHA:1822
Xp22.13P22.2 Duplication Syndrome
Scoliosis, Recurrent upper respiratory tract infections, Mandibular prognathia, 2-3 toe syndactyl... ORPHA:284180
Achondroplasia
Bowing of the legs, Flat acetabular roof, Narrow greater sciatic notch, Depressed nasal bridge, O... ORPHA:15
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Convex nasal ridge, Frontal bossing, Abnormal form of the vertebral bodies, Abnormal sacrum morph... ORPHA:93262
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Macrocephaly-Developmental Delay Syndrome
Craniosynostosis, Frontal bossing, Microretrognathia, Mandibular prognathia, Wide nasal bridge, R... ORPHA:397612
Mental Retardation, Autosomal Recessive 48
Long philtrum, Mandibular prognathia, Small hand OMIM:616269
Whistling Face Syndrome, Recessive Form
Long philtrum, Short neck, Narrow mouth, Underdeveloped nasal alae, Midface retrusion, Camptodact... OMIM:277720
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Osteolysis, Narrow palate, Gingival... ORPHA:3019
Temtamy Preaxial Brachydactyly Syndrome
Talon cusp, Tarsal synostosis, Short metatarsal, Radioulnar synostosis, Hitchhiker thumb, Deep ph... OMIM:605282
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Autosomal Recessive Hypophosphatemic Rickets
Craniosynostosis, Increased bone mineral density, Rickets of the lower limbs, Pseudo-fractures, T... ORPHA:289176
Temtamy Syndrome
Chorioretinal coloboma, Highly arched eyebrow, Convex nasal ridge, Hypertelorism, Lens luxation, ... OMIM:218340
Spondylocostal Dysostosis 3, Autosomal Recessive
Scoliosis, Supernumerary vertebral ossification centers, Kyphosis, Short stature, Vertebral segme... OMIM:609813
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia, Severe short stature OMIM:202900
Triopia
Abnormal eyebrow morphology, Hypertelorism, Blepharophimosis, Iris coloboma, Laryngomalacia, Micr... ORPHA:3374
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Scoliosis, Hyperlordosis, Kyphosis, Spinal rigidity, Frequent falls, Short neck OMIM:300718
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Chorioretinal coloboma, Hypertelorism, Short nose, Iris coloboma, Epicanth... OMIM:243310
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental enamel morphology ORPHA:69087
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Nizon-Isidor Syndrome
Sparse eyebrow, Hypertelorism, Bulbous nose, Unilateral ptosis, Deeply set eye, Iris coloboma, Up... OMIM:618872
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Depressed nasal tip, Wormian bones, Abnormali... ORPHA:2863
Neuropathy, Hereditary Motor And Sensory, Russe Type
Scoliosis, Paralysis OMIM:605285
Gm1-Gangliosidosis, Type Iii
Scoliosis, Platyspondyly, Kyphosis, Slurred speech, Anterior beaking of lumbar vertebrae, Short s... OMIM:230650
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Scoliosis, Congenital hip dislocation, Metaphyseal irregularity, Posterior scalloping of vertebra... OMIM:603546
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Coffin-Lowry Syndrome
Scoliosis, Narrow palate, Open mouth, Short distal phalanx of finger, High palate, Wide nose, Dep... ORPHA:192
Marshall-Smith Syndrome
Scoliosis, Craniosynostosis, Short nose, Open mouth, Joint hyperflexibility, Bowing of the long b... ORPHA:561
Chromosome 16Q22 Deletion Syndrome
Hip dysplasia, Wormian bones, Short neck, Wide anterior fontanel, Frontal bossing, Growth delay, ... OMIM:614541
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Scoliosis, Oligodontia, Frontal bossing, Everted lower lip vermilion, Kyphosis, Anodontia, Short ... ORPHA:276630
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Postnatal growth retardation, Anterior scallopin... OMIM:611717
Epidermolysis Bullosa Simplex With Muscular Dystrophy