Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
trans-acting transcription factor 3
Synonyms:
D130027J01Rik

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 Sp3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Sp3 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Odontochondrodysplasia 1
Scoliosis, Joint hypermobility, Short phalanx of finger, Flared iliac wing, Death in infancy, Fla... OMIM:184260
Odontochondrodysplasia
Scoliosis, Platyspondyly, Delayed eruption of teeth, Short nose, Frontal bossing, Square pelvis b... ORPHA:166272
Osteogenesis Imperfecta, Type V
Joint hypermobility, Wormian bones, Platyspondyly, Biconcave vertebral bodies, Recurrent fracture... OMIM:610967
Osteogenesis Imperfecta, Type Iii
Scoliosis, Wormian bones, Protrusio acetabuli, Wide anterior fontanel, Frontal bossing, Biconcave... OMIM:259420
Pycnodysostosis
Osteolytic defects of the distal phalanges of the hand, Wormian bones, Scoliosis, Carious teeth, ... OMIM:265800
Pyle Disease
Scoliosis, Limited elbow extension, Platyspondyly, Genu valgum, Delayed eruption of teeth, Cariou... OMIM:265900
Hall-Riggs Mental Retardation Syndrome
Osteoporosis, Scoliosis, Platyspondyly, Enamel hypoplasia, Thick lower lip vermilion, Hypoplasia ... OMIM:234250
Metatropic Dysplasia
Scoliosis, Arthrogryposis multiplex congenita, Dumbbell-shaped metaphyses, Respiratory insufficie... OMIM:156530
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Osteoporosis, Platyspondyly, Short philtrum, Delayed eruption of teeth, Cone-shaped epiphysis, De... ORPHA:71267
Osteogenesis Imperfecta, Type Ix
Scoliosis, Wormian bones, Platyspondyly, Decreased calvarial ossification, Kyphosis, Recurrent fr... OMIM:259440
Dentinogenesis Imperfecta
Joint hypermobility, Finger joint hypermobility, Generalized hypoplasia of dental enamel, Abnorma... ORPHA:49042
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Atlantoaxial instability, Joint laxity, Spondylolysis, Ankle clonus, Os odontoideum, Lumbar hyper... OMIM:600561
Regional Odontodysplasia
Enamel hypoplasia, Abnormal dental enamel morphology, Carious teeth, Pulp calcification, Hypoplas... ORPHA:83450
Lichtenstein Syndrome
Osteoporosis, Enamel hypoplasia, Carious teeth, Downturned corners of mouth, Neutropenia, Single ... OMIM:246550
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Wormian bones, Upper limb undergrowth, Abnormal cortical bone morphology, Pathologic fracture, To... ORPHA:166277
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Scoliosis, Overlapping fingers, Arthrogryposis multiplex congenita, Congenital hip dislocation, M... OMIM:618291
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Scoliosis, Carious teeth, Small epiphyses, High palate, Short femoral neck, Advanced ossification... OMIM:618363
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Carious teeth, Thoracic kyphoscoliosis, Generalized hypoplasia of dental enamel, Flexion contract... OMIM:203550
X-Linked Hypophosphatemia
Craniosynostosis, Flared iliac wing, Generalized osteosclerosis, Rachitic rosary, Bowing of the l... ORPHA:89936
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finge... ORPHA:750
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Enlarged joints, Anteverted nares, Kyphosis, Short finger, Respiratory insufficien... OMIM:313420
Congenital Arthrogryposis With Anterior Horn Cell Disease
Scoliosis, Cryptorchidism, Hip dysplasia, Arthrogryposis multiplex congenita, Rocker bottom foot,... OMIM:611890
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Limited elbow extension, Delayed closure of the anterior fontanelle, Wormian bones, Carious teeth... OMIM:604922
Pseudopseudohypoparathyroidism
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Pseudohypoparathyro... OMIM:612463
Greenberg Dysplasia
Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebral bodies, Calvarial skull... ORPHA:1426
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Wormian bones, Scoliosis, Kyphosis, Recurrent fractures, Reduced bone mineral densi... OMIM:166220
Spondyloepiphyseal Dysplasia, Nishimura Type
Abnormal femoral neck/head morphology, Downturned corners of mouth, Anterior plagiocephaly, Thora... ORPHA:163649
Atelosteogenesis, Type Ii
Scoliosis, Hitchhiker thumb, Short greater sciatic notch, Death in infancy, Respiratory insuffici... OMIM:256050
Congenital Disorder Of Glycosylation, Type Iik
Osteoporosis, Amelogenesis imperfecta, Joint laxity, Elevated hepatic transaminase, Midface retru... OMIM:614727
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Enamel hypoplasia, Narrow palate, Persistent open anterior fontanelle, ... OMIM:119600
Pycnodysostosis
Wormian bones, Narrow palate, Persistent open anterior fontanelle, Short distal phalanx of finger... ORPHA:763
Dyssegmental Dysplasia With Glaucoma
Platyspondyly, Wide anterior fontanel, Broad long bones, Cleft palate, Short long bone, Flared me... OMIM:601561
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Metaphyseal sclerosis, Metaphyseal irregularity, Osteoporotic metatarsal, Osteopor... OMIM:609052
Brachydactyly, Type B1
Hypoplastic sacrum, Broad thumb, Wide anterior fontanel, Short middle phalanx of finger, Camptoda... OMIM:113000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Enamel hypoplasia, Bulging epiphyses, Metaphyseal irregularity, Bulging of the costochondral junc... OMIM:264700
Otopalatodigital Syndrome, Type Ii
Cryptorchidism, Nonossified fifth metatarsal, Delayed closure of the anterior fontanelle, Wormian... OMIM:304120
Vitamin D-Dependent Rickets, Type 2A
Enamel hypoplasia, Bulging epiphyses, Carious teeth, Metaphyseal irregularity, Bulging of the cos... OMIM:277440
Osteopenia-Myopia-Hearing Loss-Intellectual Disability-Facial Dysmorphism Syndrome
Enamel hypoplasia, Down-sloping shoulders, Recurrent fractures, Brachycephaly, Osteopenia ORPHA:91133
Andersen Cardiodysrhythmic Periodic Paralysis
Scoliosis, Enamel hypoplasia, Oligodontia, Short metatarsal, Joint laxity, Bulbous nose, Short ph... OMIM:170390
Cole-Carpenter Syndrome 2
Wormian bones, Platyspondyly, Lambdoidal craniosynostosis, Frontal bossing, Midface retrusion, Mi... OMIM:616294
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis, Carious teeth, Hip dysplasia, Metaphyseal chondrodysplasia, Abnormality... ORPHA:2501
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Short proximal phalanx of thumb, Short middle phalanx of finger, Short proxima... OMIM:251190
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Multiple small vertebral fractures, Platyspondyly, Thin vermilion border, Short philtrum, Short m... OMIM:156510
Desbuquois Dysplasia 1
Scoliosis, Short metatarsal, Joint laxity, Narrow mouth, Phalangeal dislocation, Broad first meta... OMIM:251450
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Cigarette-paper scars, Joint laxity, Short phalanx of finger, High palate, Short femoral neck, Fl... OMIM:612350
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Genu valgum, Oligodontia, Platyspondyly, Metaphyseal irregularity, Joint contracture of the 5th f... OMIM:601668
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Short philtrum, Abnormality of the ribs, Frontal bossing, Large fontanelles, Platy... ORPHA:93267
Craniometadiaphyseal Dysplasia
Scoliosis, Genu valgum, Wormian bones, Cubitus valgus, Carious teeth, Wide anterior fontanel, Bro... OMIM:269300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Joint hypermobility, Multiple joint dislocation, Craniosynostosis, Carious teeth, Phal... ORPHA:536467
Lethal Osteosclerotic Bone Dysplasia
Mandibular aplasia, Median cleft lip and palate, Gingival fibromatosis, Short nose, Large fontane... ORPHA:1832
Cleidocranial Dysplasia
Scoliosis, Wormian bones, Carious teeth, Abnormal dental enamel morphology, Open bite, Sleep apne... ORPHA:1452
Osteogenesis Imperfecta, Type Xi
Scoliosis, Protrusio acetabuli, Joint laxity, Biconcave vertebral bodies, Dentinogenesis imperfec... OMIM:610968
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Scoliosis, Joint laxity, Abnormality of the elbow, Increased susceptibility to fractures, Abnorma... ORPHA:93359
Amelogenesis Imperfecta
Enamel hypoplasia, Abnormality of dental color, Hypoplasia of teeth, Taurodontia, Multiple unerup... ORPHA:88661
Greenberg Dysplasia
Epiphyseal stippling, Tracheal calcification, Short phalanx of finger, Omphalocele, Sandal gap, A... OMIM:215140
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Beaking of vertebral bodies, Hypoplastic ilia, Trismus, Joint stiffness, Kyphoscol... OMIM:616583
Cranioectodermal Dysplasia
Osteoporosis, Abnormal dental enamel morphology, Craniosynostosis, Frontal bossing, Taurodontia, ... ORPHA:1515
Osteogenesis Imperfecta, Type X
Scoliosis, Genu valgum, Platyspondyly, Joint laxity, Broad ribs, Generalized joint laxity, Midfac... OMIM:613848
Anauxetic Dysplasia 1
Platyspondyly, Delayed ossification of carpal bones, Hypoplastic ilia, Rhizomelia, Short finger, ... OMIM:607095
48,Xyyy Syndrome
Enamel hypoplasia, Dislocated radial head, Long philtrum, Radioulnar synostosis, Thick lower lip ... ORPHA:99329
Dysosteosclerosis
Delayed closure of the anterior fontanelle, Oligodontia, Natal tooth, Increased susceptibility to... OMIM:224300
Mulibrey Nanism
Enamel hypoplasia, Frontal bossing, Dental crowding, Hypoplastic frontal sinuses, Dental malocclu... OMIM:253250
Hyperekplexia 4
Talipes equinovarus, Camptodactyly, Flexion contracture, Umbilical hernia, Inguinal hernia, Dista... OMIM:618011
Fibrodysplasia Ossificans Progressiva
Scoliosis, Small cervical vertebral bodies, Short hallux, Ectopic ossification in muscle tissue, ... OMIM:135100
Osteogenesis Imperfecta, Type Xii
Osteoporosis, Wormian bones, Scoliosis, Delayed eruption of teeth, Narrow mouth, Midface retrusio... OMIM:613849
Osteogenesis Imperfecta, Type I
Otosclerosis, Joint hypermobility, Wormian bones, Recurrent fractures, Dentinogenesis imperfecta,... OMIM:166200
Frank-Ter Haar Syndrome
Scoliosis, Mandibular prognathia, Abnormality of the metacarpal bones, Joint stiffness, Depressed... ORPHA:137834
Mucopolysaccharidosis, Type Iva
Scoliosis, Carious teeth, Joint laxity, Constricted iliac wing, Ovoid vertebral bodies, Large elb... OMIM:253000
Anauxetic Dysplasia 3
Joint hypermobility, Oligodontia, Hip subluxation, Femoral bowing, Depressed nasal bridge, Genu v... OMIM:618853
Brachyolmia Type 1, Hobaek Type
Scoliosis, Squared-off platyspondyly, Short iliac bones, Kyphosis, Flattened proximal radial epip... OMIM:271530
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Enamel hypoplasia, Tarsal synostosis, Mandibular prognathia, Hemivertebrae, Hypoplastic vertebral... OMIM:263540
Hydrocephalus, Sprengel Anomaly, And Costovertebral Dysplasia
Enamel hypoplasia, Bulbous nose, Anteverted nares, Mandibular prognathia, Wide nasal bridge, Sand... OMIM:600991
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Scoliosis, Camptodactyly of finger, Talipes equinovarus, Restrictive ventilatory defect, Respirat... OMIM:614399
Seckel Syndrome 1
Scoliosis, Cryptorchidism, Enamel hypoplasia, Dental crowding, Small anterior fontanelle, Sandal ... OMIM:210600
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
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal irregularity, Bowing of the legs, Femoral bowing, Hip dysplasia, Ulnar metaphyseal ir... ORPHA:174
Congenital Muscular Dystrophy, Ullrich Type
Scoliosis, Short neck, Micrognathia, Kyphosis, Flexion contracture, Hyperextensibility at wrists,... ORPHA:75840
Mucopolysaccharidosis, Type Ivb
Scoliosis, Carious teeth, Joint laxity, Constricted iliac wing, Ovoid vertebral bodies, Mandibula... OMIM:253010
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Platyspondyly, Carious teeth, Abnormal vertebral morphology, Laryngotracheomalacia, Aplasia/hypop... ORPHA:93346
Melnick-Needles Syndrome
Scoliosis, Omphalocele, Respiratory insufficiency, Short distal phalanx of finger, Short clavicle... ORPHA:2484
Microcephalic Primordial Dwarfism, Toriello Type
Enamel hypoplasia, Downturned corners of mouth, Abnormality of epiphysis morphology, Neutropenia,... ORPHA:2643
Blepharophimosis-Impaired Intellectual Development Syndrome
Scoliosis, Cryptorchidism, Enamel hypoplasia, Joint laxity, Underdeveloped nasal alae, Short dist... OMIM:619293
Angel-Shaped Phalango-Epiphyseal Dysplasia
Hip dysplasia, Delayed eruption of teeth, Abnormality of epiphysis morphology, Hip osteoarthritis... ORPHA:63442
Hypocalcemic Vitamin D-Dependent Rickets
Enamel hypoplasia, Rachitic rosary, Increased susceptibility to fractures, Thin bony cortex, Dela... ORPHA:289157
Pseudohypoparathyroidism, Type Ia
Enamel hypoplasia, Osteoporosis, Delayed eruption of teeth, Short metatarsal, Pseudohypoparathyro... OMIM:103580
Metaphyseal Acroscyphodysplasia
Scoliosis, Irregular phalanges, Craniosynostosis, Short phalanx of finger, Cone-shaped epiphyses ... OMIM:250215
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thin vermilion border, Joint laxity, Metaphyseal irregularity, Narrow greater sciatic notch, Dela... OMIM:602557
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Scoliosis, Platyspondyly, Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the ... OMIM:619269
Premature Aging Syndrome, Penttinen Type
Scoliosis, Wormian bones, Thin vermilion border, Delayed eruption of teeth, Thin calvarium, Midfa... OMIM:601812
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Omphalocele, Hypoplastic ischia, Narrow greater sciatic notch, Short... OMIM:228520
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip subluxation, Flattened femoral head, Short femoral neck, Hump-shaped mound of bone in central... ORPHA:99642
Saul-Wilson Syndrome
Platyspondyly, Talipes equinovarus, Short metatarsal, Wide anterior fontanel, Neutropenia, Short ... OMIM:618150
Dentin Dysplasia With Sclerotic Bones
Cortical sclerosis, Dentinogenesis imperfecta limited to primary teeth, Abnormality of the dentition OMIM:125440
Progressive Pseudorheumatoid Arthropathy Of Childhood
Scoliosis, Irregularity of vertebral bodies, Abnormal ilium morphology, Abnormal hip joint morpho... ORPHA:1159
Osteogenesis Imperfecta
Scoliosis, Joint hypermobility, Wormian bones, Carious teeth, Abnormal dental enamel morphology, ... ORPHA:666
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Short distal phalanx... ORPHA:1327
Acrodysostosis
Open bite, Cryptorchidism, Epiphyseal stippling, Short metatarsal, Open mouth, Mandibular prognat... ORPHA:950
Stuve-Wiedemann Syndrome
Scoliosis, Pursed lips, Abnormal dental enamel morphology, Short phalanx of finger, Respiratory i... OMIM:601559
Pseudoachondroplasia
Scoliosis, Irregular carpal bones, Joint laxity, Metaphyseal irregularity, Short phalanx of finge... OMIM:177170
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Large fontanelles, Mandibula... OMIM:259775
Otospondylomegaepiphyseal Dysplasia
Abnormality of long bone morphology, Short phalanx of finger, Sandal gap, Micrognathia, Short nec... ORPHA:1427
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Wormian bones, Overtubulated long bones, Wide anterior fontanel, Broad ribs, Thin calvarium, High... ORPHA:85184
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Flat acetabular roof, Monkey wrench femoral neck, Genu varum, Short femoral neck, ... OMIM:617719
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Scoliosis, Platyspondyly, Metaphyseal irregularity, Hypoplastic inferior ilia, Ovoid vertebral bo... OMIM:608940
Pseudohypoparathyroidism, Type Ic
Enamel hypoplasia, Delayed eruption of teeth, Osteoporosis, Short metatarsal, Pseudohypoparathyro... OMIM:612462
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Abnormality of the mouth, Dyspnea, Abnormality of the philtrum, Respiratory distress, Abnormal fo... ORPHA:2759
Aarskog-Scott Syndrome
Cryptorchidism, Oral cleft, Short neck, Hypoplasia of the maxilla, Long philtrum, Genu recurvatum... ORPHA:915
Craniosynostosis And Dental Anomalies
Delayed eruption of teeth, Craniosynostosis, Lambdoidal craniosynostosis, Short phalanx of finger... OMIM:614188
Chondroectodermal Dysplasia With Night Blindness
Osteoporosis, Abnormality of the knee, Platyspondyly, Abnormality of dental morphology, Metaphyse... ORPHA:319195
Dysostosis, Stanescu Type
Scoliosis, Wormian bones, Carious teeth, Massively thickened long bone cortices, Abnormal dental ... ORPHA:1798
Scarf Syndrome
Enamel hypoplasia, Cryptorchidism, Long philtrum, Craniosynostosis, Abnormal form of the vertebra... ORPHA:3134
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Scoliosis, Joint hypermobility, Oligodontia, Enamel hypoplasia, Dental crowding, Pierre-Robin seq... OMIM:619184
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Osteoarthritis of the elbow, Protrusio acetabuli, Short toe, Stiff shoulders, Hip ... ORPHA:2619
Hypophosphatasia, Infantile
Platyspondyly, Apnea, Craniosynostosis, Stillbirth, Decreased calvarial ossification, Death in in... OMIM:241500
Mucopolysaccharidosis Type 4
Scoliosis, Carious teeth, Abnormal dental enamel morphology, Grayish enamel, Abnormality of the m... ORPHA:582
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Scoliosis, Genu valgum, Platyspondyly, Decreased hip abduction, Thoracic kyphosis, Irregular vert... OMIM:609223
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Bulbous nose, Short phalanx of finger, Micrognathia, Coronal cleft vertebrae, Flexion contracture... OMIM:215150
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Talipes equinovarus, Frontal bossing, Elbow dislocation, Midface retrus... OMIM:264180
Hyper-Ige Recurrent Infection Syndrome 1, Autosomal Dominant
Scoliosis, Joint hypermobility, Craniosynostosis, Frontal bossing, High palate, Recurrent fractur... OMIM:147060
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed closure of the anterior fontanelle, Metatarsal osteolysis, Bulbous nose, Split hand, Inte... OMIM:259600
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hip dysplasia, Limited elbow extension, Delayed pubic bone ossification, Platyspondyly, Abnormal ... ORPHA:1856
Pde4D Haploinsufficiency Syndrome
Cryptorchidism, Abnormal dental enamel morphology, Short metatarsal, Joint laxity, Short phalanx ... ORPHA:439822
Pseudohypoparathyroidism Type 1B
Enamel hypoplasia, Delayed eruption of teeth, Cortical subperiosteal resorption of humeral metaph... ORPHA:94089
Fgfr2-Related Bent Bone Dysplasia
Steep acetabular roof, Incomplete ossification of pubis, Midface retrusion, Micrognathia, Extrame... ORPHA:313855
Oculocerebrodental Syndrome
Scoliosis, Hyperlordosis, Oligodontia, Enamel hypoplasia, Thoracic kyphosis, Abnormality of the d... ORPHA:557003
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Flat distal femoral epiphysis, Genu valgum, Irregularity of vertebral bodies, Proximal femoral me... OMIM:609324
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Anteverted nares, Enlarged epiphyses, Midface retrusion, Pierre-Robin sequence, Pr... OMIM:184840
Spondyloepimetaphyseal Dysplasia, Irapa Type
Osteoporosis, Genu valgum, Platyspondyly, Upper limb undergrowth, Short metatarsal, Abnormality o... ORPHA:93351
Osteoglosphonic Dysplasia
Scoliosis, Cryptorchidism, Craniosynostosis, Abnormal bone ossification, Abnormal form of the ver... ORPHA:2645
Kniest Dysplasia
Delayed epiphyseal ossification, Short neck, Depressed nasal bridge, Respiratory distress, Corona... OMIM:156550
Frontometaphyseal Dysplasia 1
Scoliosis, Partial fusion of carpals, Long phalanx of finger, Wrist flexion contracture, High pal... OMIM:305620
Grant Syndrome
Open bite, Wormian bones, Abnormality of the glenoid fossa, Large fontanelles, Frontal bossing, J... ORPHA:2097
Congenital Muscular Dystrophy With Intellectual Disability
Scoliosis, Cryptorchidism, Respiratory insufficiency, Decreased cervical spine mobility, Abnormal... ORPHA:370968
Osteopathia Striata-Cranial Sclerosis Syndrome
Scoliosis, Large iliac wing, Large fontanelles, Increased bone mineral density, Spina bifida occu... ORPHA:2780
Spondyloepiphyseal Dysplasia Tarda
Scoliosis, Limited wrist movement, Localized osteoporosis, Joint swelling, Thoracic kyphosis, Fla... ORPHA:93284
Dyggve-Melchior-Clausen Disease
Scoliosis, Short metatarsal, Carpal bone hypoplasia, Camptodactyly, Thoracic kyphosis, Mandibular... OMIM:223800
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Abnormality of long bone morphology, Polydactyly, Horizontal ribs, Ora... ORPHA:1505
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Craniosynostosis, Carpal bone hypoplasia, Flattened femoral head, Thoracic platyspondyly, Increas... ORPHA:457395
Carpenter Syndrome 1
Scoliosis, Cryptorchidism, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Omphalo... OMIM:201000
Codas Syndrome
Scoliosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Congenital hip dislocati... ORPHA:1458
Robinow Syndrome, Autosomal Recessive 1
Scoliosis, Cryptorchidism, Hypoplastic sacrum, Bifid distal phalanx of toe, Broad thumb, Dental c... OMIM:268310
Trichorhinophalangeal Syndrome, Type I
Scoliosis, Pear-shaped nose, Carious teeth, Narrow palate, Short metatarsal, Ivory epiphyses of t... OMIM:190350
Osteoglophonic Dysplasia
Cryptorchidism, Craniosynostosis, Short metatarsal, Short phalanx of finger, Mandibular prognathi... OMIM:166250
Otopalatodigital Syndrome, Type I
Scoliosis, Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, ... OMIM:311300
3M Syndrome
Scoliosis, Abnormal dental enamel morphology, Congenital hip dislocation, Bulbous nose, Abnormali... ORPHA:2616
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hip joint morphology, Flattened femoral head, Thoracic platyspondy... ORPHA:166011
Spondyloepimetaphyseal Dysplasia, Shohat Type
Scoliosis, Generalized bone demineralization, Joint laxity, Metaphyseal irregularity, Bowing of t... ORPHA:93352
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Scoliosis, Cryptorchidism, Wormian bones, Epiphyseal stippling, Absent glenoid fossa, Narrow mout... ORPHA:96334
Weismann-Netter Syndrome
Scoliosis, Squared iliac bones, Kyphosis, Anterior tibial bowing, Fibular bowing, Horizontal sacr... OMIM:112350
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Delayed closure of the anterior fontanelle, Joint laxity, Short phalanx of finger, Recurrent mand... OMIM:225410
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Irregular acetabular roof, Platyspondyly, Delayed ossification of carpal bones, Metaphyseal dyspl... OMIM:617974
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Short phalanx of finger, Carpal bone hypoplasia, Anterior scalloping of vertebral bodies, Small e... OMIM:611717
Branchioskeletogenital Syndrome
Thin vermilion border, Craniosynostosis, Carious teeth, Downturned corners of mouth, Upper limb p... ORPHA:1299
Eiken Syndrome
Oligodontia, Pseudoepiphyses, Delayed tarsal ossification, Flat acetabular roof, Long thumb, Dela... OMIM:600002
Diastrophic Dwarfism
Scoliosis, Cryptorchidism, Elbow dislocation, Respiratory insufficiency, Increased bone mineral d... ORPHA:628
Nail-Patella Syndrome
Scoliosis, Enamel hypoplasia, Abnormality of tibia morphology, Abnormality of the elbow, Iliac ho... ORPHA:2614
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Irregularity of vertebral bodies, Frontal bossing, Cone-shaped epiphyses of the ph... ORPHA:85172
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Wormian bones, Flared iliac wing, Thoracic kyphosis, Small epiphyses, High palate, Short femoral ... OMIM:300232
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Enamel hypoplasia, Short distal phalanx of finger, Ulnar bowing, Narrow pelvis bone, Limited elbo... OMIM:210720
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness ORPHA:2871
48,Xxyy Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Open bite, Elbow dis... ORPHA:10
Osteogenesis Imperfecta, Type Xiii
Osteoporosis, Joint hypermobility, Wormian bones, Dislocated radial head, Scoliosis, Platyspondyl... OMIM:614856
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Short phalanx of finger, Generalized joint laxity, Hip osteoarthritis, Ovoid vertebr... OMIM:132400
Spondylocarpotarsal Synostosis Syndrome
Scoliosis, Enamel hypoplasia, Tarsal synostosis, C2-C3 subluxation, Abnormality of pelvic girdle ... OMIM:272460
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Abnormality of the knee, Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology,... ORPHA:163665
Osteopetrosis, Autosomal Recessive 2
Genu valgum, Carious teeth, Chronic rhinitis due to narrow nasal airway, Extramedullary hematopoi... OMIM:259710
Dentin Dysplasia
Abnormal dental enamel morphology, Abnormality of dental morphology, Increased bone mineral density ORPHA:1653
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Scoliosis, Pursed lips, Long philtrum, Short neck, Micrognathia, Camptodactyly, Congenital contra... OMIM:616266
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Scoliosis, Multiple joint dislocation, Hip subluxation, Joint laxity, Laryngotracheomalacia, Meta... ORPHA:93360
Osteopetrosis, Autosomal Recessive 5
Stillbirth, Micrognathia, Extramedullary hematopoiesis, Osteopetrosis, Pancytopenia, Thrombocytop... OMIM:259720
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Scoliosis, Delayed pubic bone ossification, Genu valgum, Hyperlordosis, Platyspondyly, Club-shape... OMIM:184250
Spondyloperipheral Dysplasia
Short metatarsal, Broad thumb, Short distal phalanx of the 2nd finger, Short distal phalanx of fi... OMIM:271700
Codas Syndrome
Scoliosis, Cryptorchidism, Enamel hypoplasia, Congenital hip dislocation, Short phalanx of finger... OMIM:600373
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Bulbous nose, Laryngotracheomalacia, Metaphyseal irregularity, Thoracic kyphosis, Mandibular prog... OMIM:271510
Progressive Pseudorheumatoid Dysplasia
Osteoporosis, Camptodactyly of finger, Platyspondyly, Metaphyseal widening, Joint swelling, Enlar... OMIM:208230
Dentin Dysplasia, Type I
Abnormality of dental morphology, Taurodontia, Dentinogenesis imperfecta limited to primary teeth... OMIM:125400
Aredyld Syndrome
Scoliosis, Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Mandibular... ORPHA:1133
Cranioectodermal Dysplasia 1
Enamel hypoplasia, Joint laxity, Short distal phalanx of finger, High palate, High, narrow palate... OMIM:218330
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Laryngotracheomalacia, Abnormal respiratory system physiology, Flat acetabular roof, S... ORPHA:94068
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Distal arthrogryposis, Arthrogryposis multiplex congenita, Respiratory failure, Respiratory insuf... OMIM:208081
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Camptodactyly of finger, Wormian bones, Delayed eruption of teeth, Abnormality of... ORPHA:2863
Trichorhinophalangeal Syndrome, Type Iii
Scoliosis, Long philtrum, Pear-shaped nose, Coxa magna, Short metatarsal, Short phalanx of finger... OMIM:190351
Intermediate Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Palmoplantar keratoderma, Atrophic scars, Scarring alopecia of scalp, Oral muc... ORPHA:79402
Smith-Mccort Dysplasia 1
Scoliosis, Genu valgum, Atlantoaxial instability, Multicentric femoral head ossification, Platysp... OMIM:607326
Scarf Syndrome
Enamel hypoplasia, Cryptorchidism, Long philtrum, Lambdoidal craniosynostosis, Abnormal form of t... OMIM:312830
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wormian bones, Decreased fibular diameter, Multiple prenatal fractures, Multiple rib fractures, M... OMIM:616897
Czech Dysplasia
Scoliosis, Platyspondyly, Short toe, Short metatarsal, Thoracic kyphosis, Flexion contracture, Na... OMIM:609162
Cole-Carpenter Syndrome
Scoliosis, Wormian bones, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormali... ORPHA:2050
Amelogenesis Imperfecta, Type Ij
Enamel hypoplasia, Amelogenesis imperfecta, Carious teeth, Increased overbite, Widely spaced teeth OMIM:617297
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Squared iliac bones, Lumbar platyspondyly, Short nose, Beaking of vertebral bodies, Limb undergro... OMIM:618961
Spondyloepimetaphyseal Dysplasia, Irapa Type
Hypoplastic sacrum, Limited elbow extension, Genu valgum, Platyspondyly, Short metatarsal, Upper ... OMIM:271650
Acrocraniofacial Dysostosis
Craniosynostosis, Broad thumb, Flared iliac wing, Choanal atresia, Short distal phalanx of finger... ORPHA:949
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Large iliac wing, Large fontanelles, Mandibular prognathia, Bilateral single transvers... ORPHA:2511
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Scoliosis, Platyspondyly, Enlarged metaphyses, Lower-limb metaphyseal irregularity, Short long bo... OMIM:618728
Catifa Syndrome
Long philtrum, Delayed eruption of teeth, Tooth malposition, Camptodactyly, Inguinal hernia, Incr... OMIM:618761
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Distal ulnar epiphyseal stippling, Scoliosis, Platyspondyly, Mesomelic arm shortening, Broad toe,... OMIM:609616
Hypophosphatasia
Abnormality of the ribs, Craniosynostosis, Large fontanelles, Emphysema, Bowing of the long bones... ORPHA:436
Chst3-Related Skeletal Dysplasia
Scoliosis, Cubitus valgus, Genu valgum, Enlarged joints, Long philtrum, Delayed eruption of teeth... ORPHA:263463
Dysosteosclerosis
Platyspondyly, Abnormal dental enamel morphology, Delayed eruption of teeth, Craniofacial hyperos... ORPHA:1782
Brittle Cornea Syndrome 1
Scoliosis, Congenital hip dislocation, Joint laxity, Palmoplantar cutis laxa, Atypical scarring o... OMIM:229200
Bone Marrow Failure Syndrome 3
Enamel hypoplasia, Cryptorchidism, Joint hypermobility, Amelogenesis imperfecta, Congenital hip d... OMIM:617052
Schwartz-Jampel Syndrome, Type 1
Pursed lips, Congenital hip dislocation, Narrow mouth, Wrist flexion contracture, Decreased testi... OMIM:255800
Hypocalcemic Vitamin D-Resistant Rickets
Scoliosis, Genu valgum, Osteolysis, Frontal bossing, Abnormal form of the vertebral bodies, Bone ... ORPHA:93160
Dysspondyloenchondromatosis
Scoliosis, Genu valgum, Platyspondyly, Enlarged joints, Anisospondyly, Metaphyseal enchondromatos... ORPHA:85198
Hypophosphatemic Rickets, X-Linked Dominant
Femoral bowing, Frontal bossing, Metaphyseal irregularity, Flattening of the talar dome, Hypophos... OMIM:307800
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Obliteration of the calvarial diploe, Frontal bossing, Taurodontia, Finger cl... ORPHA:3352
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Dental Ankylosis
Clinodactyly of the 5th finger, Mandibular prognathia, Abnormal dental enamel morphology, Tooth a... ORPHA:1077
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Genu valgum, Delayed eruption of teeth, Abnormality of dental morphology, Hypodontia, Alveolar pr... ORPHA:2972
Greig Cephalopolysyndactyly Syndrome
Cryptorchidism, Craniosynostosis, Broad thumb, 1-3 toe syndactyly, Broad hallux phalanx, Trigonoc... OMIM:175700
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Enamel hypoplasia, Carious teeth, Increased connective tissue, Scarring alopecia of scalp, Neonat... OMIM:226670
Desbuquois Dysplasia 2
Broad thumb, Joint laxity, Short phalanx of finger, Dental crowding, Flat acetabular roof, Toe cl... OMIM:615777
Sponastrime Dysplasia
Scoliosis, Hip subluxation, Joint laxity, Hypoplasia of the nasal bone, Metaphyseal irregularity,... ORPHA:93357
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Bulbous nose, Broad metatarsal, Trigonocephaly, Brachycephaly, Broad phalanx, Bifid nose, Microgn... OMIM:275595
Mucopolysaccharidosis, Type Vii
Scoliosis, Decreased pulmonary function, Anterior beaking of lumbar vertebrae, Metatarsus adductu... OMIM:253220
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Hall-Riggs Syndrome
Scoliosis, Platyspondyly, Abnormal dental enamel morphology, Delayed eruption of teeth, Downturne... ORPHA:2107
Cantu Syndrome
Osteoporosis, Platyspondyly, Long philtrum, Erlenmeyer flask deformity of the femurs, Short hallu... OMIM:239850
Hallermann-Streiff Syndrome
Scoliosis, Cryptorchidism, Joint hypermobility, Wormian bones, Thin vermilion border, Narrow pala... OMIM:234100
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Femoral bowing, Craniosynostosis, Short nose, Overlapping toe, Narrow pelvis bone,... OMIM:616723
Acrodysostosis 1 With Or Without Hormone Resistance
Scoliosis, Cryptorchidism, Epiphyseal stippling, Short metatarsal, Short phalanx of finger, Mandi... OMIM:101800
Atelosteogenesis, Type I
Cryptorchidism, Short metatarsal, Elbow dislocation, Thoracic platyspondyly, Multinucleated giant... OMIM:108720
Spondylometaphyseal Dysplasia, Axial
Anterior rib cupping, Proximal femoral metaphyseal irregularity, Platyspondyly, Rhizomelia, Coxa ... OMIM:602271
Thanatophoric Dysplasia Type 1
Platyspondyly, Short femur, Wide anterior fontanel, Frontal bossing, Split hand, Kyphosis, Short ... ORPHA:1860
Nestor-Guillermo Progeria Syndrome
Osteoporosis, Osteolytic defects of the distal phalanges of the hand, Delayed closure of the ante... OMIM:614008
Autosomal Recessive Stickler Syndrome
Genu valgum, Platyspondyly, Abnormality of epiphysis morphology, Joint hyperflexibility, Irregula... ORPHA:250984
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Broad thumb, Joint laxity, Absent nasal bridge, Bronchospasm, Midface retrusion, R... OMIM:612813
Pseudohypoparathyroidism Type 1C
Enamel hypoplasia, Delayed eruption of teeth, Short fifth metatarsal, Short 3rd metacarpal, Short... ORPHA:79444
Ectodermal Dysplasia-Syndactyly Syndrome 2
Enamel hypoplasia, Thin upper lip vermilion, Syndactyly, Palmoplantar keratoderma OMIM:613576
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Flexion contracture, Thenar muscle atrophy, Absent palmar crease, Flattened epiphy... ORPHA:157965
Coffin-Lowry Syndrome
Scoliosis, Sleep apnea, Narrow palate, Open mouth, Short distal phalanx of finger, High palate, W... ORPHA:192
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Abnormal ilium morphology, Craniosynostosis, Narrow mouth, Open mouth, Bulbous nose, Short phalan... ORPHA:508533
Rhizomelic Chondrodysplasia Punctata, Type 1
Epiphyseal stippling, Coronal cleft vertebrae, Frontal bossing, Calcific stippling of infantile c... OMIM:215100
Wt Limb-Blood Syndrome
Cryptorchidism, Radioulnar synostosis, Short phalanx of finger, Joint contracture of the 5th fing... OMIM:194350
Cenani-Lenz Syndrome
Scoliosis, Abnormal dental enamel morphology, Elbow dislocation, Abnormality of the metacarpal bo... ORPHA:3258
Acrocraniofacial Dysostosis
Short philtrum, Craniosynostosis, Abnormality of the vertebral column, Oxycephaly, Natal tooth, S... OMIM:201050
Eiken Syndrome
Cubitus valgus, Short toe, Abnormal bone ossification, Short phalanx of finger, Abnormal trabecul... ORPHA:79106
Hao-Fountain Syndrome
Cryptorchidism, Central sleep apnea, Large fontanelles, Delayed cranial suture closure, Trigonoce... OMIM:616863
Sandestig-Stefanova Syndrome
Rocker bottom foot, Camptodactyly, Bilateral single transverse palmar creases, Wide nasal bridge,... OMIM:618804
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hip subluxation, Irregular carpal bones, Carpal bone hypoplasia, Ivory epiphyses of the phalanges... OMIM:226980
Van Maldergem Syndrome 2
Scoliosis, Cryptorchidism, Joint laxity, Downturned corners of mouth, Short clavicles, High palat... OMIM:615546
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Limited elbow extension, Platyspondyly, Ovoid vertebral bodies, Irregular epiphyses, Narrow iliac... OMIM:608728
Geroderma Osteodysplasticum
Osteoporosis, Wormian bones, Platyspondyly, Femoral bowing, Biconcave vertebral bodies, Beaking o... OMIM:231070
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macroglossia, Craniosynostosis, Short phalanx of finger, Frontal bossing, Widely spaced teeth, Co... OMIM:266920
Cockayne Syndrome Type 2
Scoliosis, Cryptorchidism, Enamel hypoplasia, Delayed eruption of primary teeth, Hypoplasia of th... ORPHA:90322
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Scoliosis, Abnormal dental enamel morphology, Bulbous nose, Anteverted nares, Abnormal form of th... ORPHA:2180
Muscular Dystrophy, Congenital, 1B
Shoulder girdle muscle weakness, Spinal rigidity, Respiratory failure, Achilles tendon contracture OMIM:604801
Spinocerebellar Ataxia, Autosomal Recessive 20
Scoliosis, Long philtrum, Macroglossia, Delayed eruption of teeth, Talipes equinovarus, Dental cr... OMIM:616354
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Cleft palate OMIM:600252
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Frontal bossing, Joint hyperflexibility, Short distal phalanx of fin... ORPHA:2787
Pseudohypoparathyroidism Type 1A
Enamel hypoplasia, Short fifth metatarsal, Broad 1st metacarpal, Short metatarsal, Pseudohypopara... ORPHA:79443
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Enamel hypoplasia, Carious teeth, Thick vermilion border, Hepatitis, Broad nasal tip, Recurrent r... ORPHA:363523
Fibrodysplasia Ossificans Progressiva
Short hallux, Abnormal vertebral morphology, Synostosis of joints, Ectopic ossification in muscle... ORPHA:337
Bruck Syndrome
Osteoporosis, Wormian bones, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis, Kyphos... ORPHA:2771
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Amelogenesis imperfecta, Anterior open-bite malocclusion, Microdontia OMIM:301200
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Beaking of vertebral bodies, Irregular vertebral endplates, Jo... OMIM:604864
Osteogenesis Imperfecta, Type Xviii
Joint hypermobility, Wormian bones, Joint laxity, Biconcave vertebral bodies, Bowing of the long ... OMIM:617952
Osteogenesis Imperfecta, Type Viii
Scoliosis, Wormian bones, Platyspondyly, Radial bowing, Joint laxity, Wide anterior fontanel, Kyp... OMIM:610915
Brachyolmia Type 1, Toledo Type
Broad tibial metaphyses, Back pain, Irregular vertebral endplates, Intervertebral space narrowing... OMIM:271630
Oculodentodigital Dysplasia
Enamel hypoplasia, Cubitus valgus, Carious teeth, Thin anteverted nares, 3-4 toe syndactyly, 4-5 ... OMIM:164200
Multiple Pterygium-Malignant Hyperthermia Syndrome
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Narrow mouth, Downturned corners o... ORPHA:2215
Calvarial Doughnut Lesions With Bone Fragility
Osteoporosis, Platyspondyly, Scoliosis, Carious teeth, Recurrent fractures, Thickened calvaria, O... OMIM:126550
Pontocerebellar Hypoplasia, Type 1C
Flexion contracture, Respiratory failure, Respiratory insufficiency OMIM:616081
Osteogenesis Imperfecta, Type Ii
Wormian bones, Platyspondyly, Large fontanelles, Broad long bones, Beaded ribs, Recurrent fractur... OMIM:166210
Trisomy 20P
Scoliosis, Cryptorchidism, Thin vermilion border, Downturned corners of mouth, Micrognathia, Shor... ORPHA:261318
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Natal tooth, Hamartoma of tongue, Postaxial polydactyly, Horizontal ribs, Narrow greater sciatic ... OMIM:617925
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Scoliosis, Hip subluxation, Epiphyseal stippling, Tracheal calcification, Short phalanx of finger... OMIM:271665
Atelosteogenesis Type I
Scoliosis, Platyspondyly, Short femur, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Schimke Immunoosseous Dysplasia
Platyspondyly, Hypoplasia of the capital femoral epiphysis, Bulbous nose, Thoracic kyphosis, Lymp... OMIM:242900
Congenital Disorder Of Glycosylation, Type Iil
Enamel hypoplasia, Hip dysplasia, Cirrhosis, Elevated hepatic transaminase, Death in infancy, Pos... OMIM:614576
Van Maldergem Syndrome 1
Scoliosis, Joint laxity, Downturned corners of mouth, Short clavicles, High palate, Micrognathia,... OMIM:601390
Schwartz-Jampel Syndrome
Scoliosis, Wormian bones, Pursed lips, Arthrogryposis multiplex congenita, Narrow mouth, Elbow di... ORPHA:800
17Q11.2 Microduplication Syndrome
Enamel hypoplasia, Thin vermilion border, Abnormal dental enamel morphology, Macroorchidism, Bifi... ORPHA:139474
Acromicric Dysplasia
Long philtrum, Narrow mouth, Bulbous nose, Short phalanx of finger, Ovoid vertebral bodies, Deep ... OMIM:102370
48,Xxxy Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Open bite, Elbow dis... ORPHA:96263
Dubowitz Syndrome
Scoliosis, Cryptorchidism, Craniosynostosis, Broad thumb, Respiratory insufficiency, Sandal gap, ... ORPHA:235
Frank-Ter Haar Syndrome
Wormian bones, Short phalanx of finger, Camptodactyly, Metatarsus adductus, Cortical irregularity... OMIM:249420
Craniolenticulosutural Dysplasia
Scoliosis, Cryptorchidism, Delayed closure of the anterior fontanelle, Carious teeth, Joint laxit... OMIM:607812
Fibrous Dysplasia Of Bone
Scoliosis, Abnormality of tibia morphology, Elevated circulating growth hormone concentration, Ab... ORPHA:249
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Tarsal synostosis, Wide anterior fontanel, Frontal bossing, Ab... ORPHA:85199
Orofaciodigital Syndrome Type 5
Scoliosis, Enamel hypoplasia, Accessory oral frenulum, Postaxial polysyndactyly of foot, Postaxia... ORPHA:2919
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Scoliosis, Abnormal dental enamel morphology, Postaxial hand polydactyly, Elbow dislocation, Abno... ORPHA:2916
Kohlschutter-Tonz Syndrome-Like
Scoliosis, Joint hypermobility, Enamel hypoplasia, Carious teeth, Amelogenesis imperfecta, Drooli... OMIM:619229
Pseudodiastrophic Dysplasia
Scoliosis, Platyspondyly, Elbow dislocation, Phalangeal dislocation, Rhizomelia, Omphalocele, Tal... ORPHA:85174
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Long philtrum, Hypoplasia of the radius, Respiratory distress, Midface retrusion, Micromelia, Hyp... OMIM:617895
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Mesomelia, Hypoplasia of the ulna, Respiratory insufficiency, Neonatal death, Syndactyly, Respira... OMIM:228940
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Cloverlea... OMIM:187601
Thanatophoric Dysplasia
Abnormal ilium morphology, Platyspondyly, Hip dysplasia, Frontal bossing, Midface retrusion, Join... ORPHA:2655
Temple-Baraitser Syndrome
Broad thumb, Open mouth, Short phalanx of the thumb, Short distal phalanx of finger, High palate,... ORPHA:420561
Fibrochondrogenesis 2
Platyspondyly, Short nose, Anteverted nares, Midface retrusion, Hypoplastic ilia, Metaphyseal cup... OMIM:614524
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Cryptorchidism, Large iliac wing, Bulbous nose, Bilateral single transverse palmar creases, Abnor... ORPHA:2636
Stickler Syndrome Type 1
Long philtrum, Platyspondyly, Abnormality of vertebral epiphysis morphology, Short nose, Abnormal... ORPHA:90653
Dyggve-Melchior-Clausen Disease
Iliac crest serration, Short neck, Atlantoaxial instability, Limited elbow extension, Genu valgum... ORPHA:239
Geroderma Osteodysplastica
Osteoporosis, Scoliosis, Platyspondyly, Abnormal bone ossification, Abnormal form of the vertebra... ORPHA:2078
Trichothiodystrophy
Enamel hypoplasia, Cryptorchidism, Carious teeth, Craniosynostosis, Increased mean corpuscular he... ORPHA:33364
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Preaxial polydactyly, Postaxial polydactyly, Short ribs, Brachydactyly, Thin upper... OMIM:617866
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Respiratory failure, Recurrent respiratory infections, Respiratory insuffi... OMIM:253300
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Enlargement of the ankles, Bulging epiphyses, Fibular bowing, Frontal bossing, Metaphyseal irregu... OMIM:600081
Chromosome 16Q22 Deletion Syndrome
Hip dysplasia, Cryptorchidism, Wormian bones, Wide anterior fontanel, Frontal bossing, Micrognath... OMIM:614541
49,Xxxxy Syndrome
Scoliosis, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Open bite, Elbow dis... ORPHA:96264
Spondyloenchondrodysplasia With Immune Dysregulation
Scoliosis, Joint swelling, Metaphyseal irregularity, Neutropenia, Pneumonia, Sclerosis of skull b... OMIM:607944
Oculofaciocardiodental Syndrome
Scoliosis, Oligodontia, Flexion contracture of the 2nd toe, Peripheral pulmonary artery stenosis,... ORPHA:2712
Kniest Dysplasia
Laryngotracheomalacia, Joint stiffness, Delayed epiphyseal ossification, Short neck, Vertebral we... ORPHA:485
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Open mouth, Camptodactyly, Omphalocele, Wrist flexion contracture, Long toe, Exagge... ORPHA:254528
Three M Syndrome 2
Hyperlordosis, Long philtrum, Delayed eruption of teeth, Short 5th finger, Prominent calcaneus, S... OMIM:612921
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Short philtrum, Metaphyseal chondrodysplasia, Short nose, Frontal bossing, Rhizome... ORPHA:163966
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Macroglossia, Delayed eruption of teeth, Congenital hip dislocation, Omphalocele, ... OMIM:614450
Craniolenticulosutural Dysplasia
Scoliosis, Long philtrum, Thin vermilion border, Carious teeth, Delayed eruption of teeth, Hypopl... ORPHA:50814
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Macroglossia, Thick lower lip vermilion, Widely spaced teeth, Split ha... OMIM:309900
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Enamel hypoplasia, Carious teeth OMIM:614564
Mandibuloacral Dysplasia With Type B Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:608612
Late-Onset Junctional Epidermolysis Bullosa
Enamel hypoplasia, Carious teeth, Oral mucosal blisters ORPHA:79406
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Short metatarsal, Short phalanx of finger, Respiratory distress, Midface retrusion... OMIM:617102
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Short nose, Frontal bossing, Rhizomelia, Metaphyseal cupping of metacarpals, Metap... OMIM:300863
Shwachman-Diamond Syndrome
Carious teeth, Metaphyseal irregularity, Neutropenia, Pneumonia, Pancytopenia, Pancreatic hypopla... ORPHA:811
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Scoliosis, Oligodontia, Joint laxity, Narrow mouth, Hypoplasia of teeth, Downturned corners of mo... ORPHA:391408
Ruvalcaba Syndrome
Scoliosis, Cryptorchidism, Limited elbow extension, Short metatarsal, Short phalanx of finger, Un... OMIM:180870
Bruck Syndrome 1
Osteoporosis, Platyspondyly, Scoliosis, Protrusio acetabuli, Talipes equinovarus, Joint laxity, K... OMIM:259450
Junctional Epidermolysis Bullosa Inversa
Enamel hypoplasia, Atrophic scars, Carious teeth, Oral mucosal blisters ORPHA:79405
Amelogenesis Imperfecta, Hypomaturation Type, Iia4
Enamel hypoplasia, Amelogenesis imperfecta, Enamel hypomineralization OMIM:614832
Dyggve-Melchior-Clausen Syndrome, X-Linked
Scoliosis, Hypoplastic sacrum, Distal ulnar hypoplasia, Carpal bone hypoplasia, Thoracic kyphosis... OMIM:304950
Amelogenesis Imperfecta, Hypomaturation Type, Iia3
Amelogenesis imperfecta, Hypomature dental enamel, Enamel hypomineralization OMIM:613211
Ectodermal Dysplasia/Short Stature Syndrome
Enamel hypoplasia, Asthma, Hypodontia OMIM:616029
Multiple Epiphyseal Dysplasia Type 4
Scoliosis, Short metatarsal, Ulnar deviation of the hand, Acetabular dysplasia, Joint stiffness, ... ORPHA:93307
Oligodontia
Enamel hypoplasia, Oligodontia, Agenesis of maxillary lateral incisor, Hypoplasia of teeth, Oral ... ORPHA:99798
Asbestos Intoxication
Clubbing of fingers, Wheezing, Exertional dyspnea, Ground-glass opacification, Late inspiratory c... ORPHA:2302
Intermediate Osteopetrosis
Cortical sclerosis, Erlenmeyer flask deformity of the femurs, Abnormality of dental morphology, S... ORPHA:210110
Momo Syndrome
Long philtrum, Delayed eruption of teeth, Abnormal bone ossification, Frontal bossing, Taurodonti... ORPHA:2563
Lethal Kniest-Like Dysplasia
Anterior rib cupping, Platyspondyly, Wide anterior fontanel, Coronal cleft vertebrae, Abnormality... ORPHA:2347
Orofaciodigital Syndrome I
Enamel hypoplasia, Carious teeth, Underdeveloped nasal alae, Tongue nodules, Polydactyly, Lobulat... OMIM:311200
Dentin Dysplasia, Type Ii
Dentinogenesis imperfecta limited to primary teeth, Abnormal dentin morphology, Pulp calcification OMIM:125420
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth, Laryngomalacia, Clinodactyly, Anteverted nares OMIM:618506
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Wormian bones, Abnormality of the knee, Osteolysis, Hyperlordosis, Abnormali... ORPHA:970
Familial Osteodysplasia, Anderson Type
Scoliosis, Carious teeth, Bulbous nose, Elbow dislocation, Mandibular prognathia, Increased susce... ORPHA:2769
Laron Syndrome
Delayed eruption of teeth, Short toe, Abnormality of the elbow, Tooth agenesis, Brachydactyly, Hy... ORPHA:633
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wormian bones, Platyspondyly, Wide anterior fontanel, Shortening of all phalanges of fingers, Mes... OMIM:601356
Albers-Schönberg Osteopetrosis
Genu valgum, Carious teeth, Frontal bossing, Abnormality of epiphysis morphology, Recurrent fract... ORPHA:53
Spondyloepiphyseal Dysplasia Congenita
Scoliosis, Ovoid vertebral bodies, Delayed calcaneal ossification, Limitation of knee mobility, S... OMIM:183900
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Scoliosis, Generalized bone demineralization, Short phalanx of finger, Elbow dislocation, Bilater... OMIM:143095
Osteogenesis Imperfecta With Opalescent Teeth, Blue Sclerae And Wormian Bones, But Without Fractures
Wormian bones, Platybasia, Abnormality of the dentition, Abnormal joint morphology, Moderate gene... OMIM:166230
Autosomal Dominant Hyper-Ige Syndrome
Scoliosis, Delayed eruption of teeth, Craniosynostosis, Cellulitis, Joint hyperflexibility, Cough... ORPHA:2314
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Cryptorchidism, Camptodactyly of finger, Short philtrum, Flexion contracture, Death in infancy, W... ORPHA:1194
Localized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Abnormality of dental color, Dental enamel pits, Mitten deformity, Atypical sc... ORPHA:251393
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Hypoplasia of the radius, Lumbar platyspondyly, Short femur, Lytic defects of humeral diaphysis, ... OMIM:601376
Spondyloepiphyseal Dysplasia, Kimberley Type
Genu valgum, Flat capital femoral epiphysis, Genu varum, Platyspondyly OMIM:608361
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Abnormal dental enamel morphology, Narrow mouth, Large fontanelles, Dental... OMIM:257850
Blomstrand Lethal Chondrodysplasia
Natal tooth, Increased bone mineral density, Aplastic clavicle, Micrognathia, Distal shortening o... ORPHA:50945
Anti-Glomerular Basement Membrane Disease
Cough, Persistence of primary teeth, Respiratory insufficiency, Anemia, Hemoptysis, Pulmonary inf... ORPHA:375
Osteopetrosis With Renal Tubular Acidosis
Genu valgum, Carious teeth, Abnormality of dental morphology, Abnormality of epiphysis morphology... ORPHA:2785
Sjogren-Larsson Syndrome
Enamel hypoplasia, Thoracic kyphosis OMIM:270200
Renal Dysplasia-Limb Defects Syndrome
Cryptorchidism, Thin vermilion border, Narrow mouth, Phocomelia, High palate, Micrognathia, Short... OMIM:266910
Craniometaphyseal Dysplasia, Autosomal Recessive
Abnormal nasopharynx morphology, Mandibular prognathia, Wide nasal bridge, Club-shaped distal fem... OMIM:218400
Kniest-Like Dysplasia, Lethal
Platyspondyly, Wide anterior fontanel, Coronal cleft vertebrae, Narrow mouth, Metaphyseal irregul... OMIM:245190
Amelogenesis Imperfecta, Hypomaturation Type, Iia5
Amelogenesis imperfecta, Carious teeth OMIM:615887
Glycine Encephalopathy With Normal Serum Glycine
Talipes equinovarus, Apnea, Arthrogryposis multiplex congenita, Joint laxity, Overlapping toe, Ge... OMIM:617301
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Coxa vara, Flared, irregular rib ends, Limitation of joint mobility, Short palm, M... ORPHA:168555
Kohlschutter-Tonz Syndrome
Enamel hypoplasia, Amelogenesis imperfecta OMIM:226750
Naegeli-Franceschetti-Jadassohn Syndrome
Abnormal dental enamel morphology, Diffuse palmoplantar hyperkeratosis ORPHA:69087
Autosomal Recessive Kenny-Caffey Syndrome
Carious teeth, Cortical thickening of long bone diaphyses, Short foot, Thin ribs, Delayed cranial... ORPHA:93324
Ectodermal Dysplasia-Syndactyly Syndrome 1
Enamel hypoplasia, Conical tooth, Palmar hyperkeratosis, Cutaneous finger syndactyly, 2-3 toe cut... OMIM:613573
Dermatosparaxis Ehlers-Danlos Syndrome
Scoliosis, Joint stiffness, Micrognathia, Depressed nasal bridge, Osteoporosis, Hip dysplasia, Ri... ORPHA:1901
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Platyspondyly, Metaphyseal chondrodysplasia, Short middle phalanx of f... OMIM:156500
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Abnormal metacarpal morphology, Synostosis of carpals/tarsals OMIM:269630
Char Syndrome
Short philtrum, Hand polydactyly, Toe syndactyly, Supernumerary nipple, Everted lower lip vermili... ORPHA:46627
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Genu valgum, Fibular bowing, Generalized bone demineralization, Metaphyseal ir... OMIM:600785
Xfe Progeroid Syndrome
Scoliosis, Absence of subcutaneous fat, Enamel hypoplasia, Elevated hepatic transaminase OMIM:610965
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Wormian bones, Squared iliac bones, Short nose, Frontal bossing, Large fontanelles, Deep philtrum... OMIM:613320
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Congenital contracture OMIM:225753
Hypertrichotic Osteochondrodysplasia, Cantu Type
Osteoporosis, Platyspondyly, Long philtrum, Short hallux, Broad ribs, Finger syndactyly, Ovoid ve... ORPHA:1517
Bone Dysplasia, Lethal Holmgren Type
Abnormality of femur morphology, Abnormal thumb morphology, Frontal bossing, Abnormality of epiph... ORPHA:1842
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Scoliosis, Dislocated radial head, Multiple joint dislocation, Platyspondyly, Joint laxity, Metap... OMIM:618395
Nemaline Myopathy 8
Respiratory failure, Flexion contracture, Death in infancy OMIM:615348
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hip subluxation, Large iliac wing, Joint laxity, Flared iliac wing, Ovoid vertebral bodies, Metat... OMIM:271640
Atelosteogenesis Type Ii
Short phalanx of finger, Elbow dislocation, Hitchhiker thumb, Camptodactyly, Sandal gap, Metatars... ORPHA:56304
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Dislocated radial head, Platyspondyly, Hypoplasia of the capital femoral epiphysis, Broad nasal t... OMIM:617425
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
Delayed eruption of teeth, Narrow palate, Short phalanx of finger, Finger syndactyly, Short foot,... OMIM:264475
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Scoliosis, Joint hypermobility, Multiple joint dislocation, Craniosynostosis, Narrow mouth, Sanda... OMIM:245600
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Craniosynostosis, Abnormal trabecular bone morphology, Polyarticular a... ORPHA:289176
Camurati-Engelmann Disease
Scoliosis, Carious teeth, Abnormality of tibia morphology, Hyperostosis, Anemia, Leukopenia, Abno... ORPHA:1328
Gapo Syndrome
Scoliosis, Joint hypermobility, Wide anterior fontanel, Frontal bossing, Breast hypoplasia, Thick... OMIM:230740
Oculodentodigital Dysplasia
Carious teeth, Abnormal dental enamel morphology, Underdeveloped nasal alae, Mandibular prognathi... ORPHA:2710
Spondyloepimetaphyseal Dysplasia, X-Linked
Short phalanx of finger, Metaphyseal irregularity, Flared iliac wing, Broad long bone diaphyses, ... OMIM:300106
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory insufficiency, Respiratory failure, High palate, ... OMIM:615330
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Enamel hypoplasia, Amelogenesis imperfecta OMIM:603641
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of the knee, Cryptorchidism, Hip dysplasia, Abnormality of femur morphology, Narrow p... ORPHA:2063
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Scoliosis, Abnormal dental enamel morphology, Biparietal narrowing, Synostosis of carpal bones, F... ORPHA:1005
Rubinstein-Taybi Syndrome 1
Scoliosis, Joint hypermobility, Cryptorchidism, Enamel hypoplasia, Narrow palate, Joint laxity, N... OMIM:180849
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Enamel hypoplasia, 3-4 toe syndactyly, Oligodontia, Scarring alopecia of scalp, Persistence of pr... OMIM:618727
Gapo Syndrome
Long philtrum, Delayed eruption of teeth, Frontal bossing, Abnormal form of the vertebral bodies,... ORPHA:2067
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Anisospondyly, Narrow mouth, Calvarial skull defect, Bowing of the long bones, Wi... OMIM:224410
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Hypoplastic pelvis, Hypoplastic scapulae, Micromelia, Metaphyseal cupping, Bowing ... ORPHA:85166
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Micrognathia, Femoral bowing, Depressed nasal bridge, Hypopla... OMIM:114290
Hypophosphatemic Rickets
Parathyroid hyperplasia, Rickets, Abnormal lower limb bone morphology, Periapical tooth abscess, ... ORPHA:437
Amelogenesis Imperfecta, Type Iiib
Amelogenesis imperfecta, Enamel hypomineralization OMIM:617607
Radio-Renal Syndrome
Hypoplasia of the radius, Dyspnea, Respiratory distress, Downturned corners of mouth, Abnormal fo... ORPHA:3015
Teebi Hypertelorism Syndrome
Long philtrum, Craniosynostosis, Short nose, Frontal bossing, Dental crowding, Broad palm, Natal ... OMIM:145420
Acrootoocular Syndrome
Small hypothenar eminence, Grayish enamel, Sandal gap, High, narrow palate, Micrognathia, Small t... ORPHA:2980
Acrocallosal Syndrome
Cryptorchidism, Thin vermilion border, Hypoplasia of teeth, Open mouth, Triangular mouth, High pa... OMIM:200990
Ceroid Lipofuscinosis, Neuronal, 10
Premature closure of fontanelles, Apnea, Respiratory insufficiency, Wide nasal bridge, Respirator... OMIM:610127
Thanatophoric Dysplasia, Type I
Frontal bossing, Metaphyseal irregularity, Hypoplastic ilia, Short greater sciatic notch, Cloverl... OMIM:187600
Lenz-Majewski Hyperostotic Dwarfism
Scoliosis, Cryptorchidism, Abnormal dental enamel morphology, Large fontanelles, Mandibular progn... ORPHA:2658
Opsismodysplasia
Squared iliac bones, Broad thumb, Short nose, Large fontanelles, Frontal bossing, Abnormality of ... ORPHA:2746
Fibromatosis, Gingival, With Distinctive Facies
Gingival fibromatosis, Underdeveloped nasal alae, Everted lower lip vermilion, Thick vermilion bo... OMIM:228560
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Limited elbow extension, Platyspondyly, Femoral bowing, Flared iliac wing, Ulnar b... OMIM:602111
Shaheen Syndrome
Enamel hypoplasia, Carious teeth, Palmoplantar hyperkeratosis OMIM:615328
Melnick-Needles Syndrome
Omphalocele, Short distal phalanx of finger, Short clavicles, Pulmonary arterial hypertension, Co... OMIM:309350
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Enlargement of the ankles, Bulging epiphyses, Fibular bowing, Frontal bossing, Metaphyseal irregu... OMIM:241530
Spondyloenchondrodysplasia
Platyspondyly, Delayed eruption of teeth, Autoimmune thrombocytopenia, Autoimmune hemolytic anemi... ORPHA:1855
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Osteoporosis, Delayed eruption of teeth, Abnormality of the mouth, Clinodactyly of the 5th finger... ORPHA:73272
Apert Syndrome
Narrow palate, Ovarian neoplasm, Large fontanelles, Broad thumb, Mandibular prognathia, Choanal a... ORPHA:87
Ollier Disease
Platyspondyly, Osteolysis, Joint stiffness, Anemia, Abnormality of the metaphysis, Micromelia ORPHA:296
Trichodysplasia-Amelogenesis Imperfecta Syndrome
Amelogenesis imperfecta ORPHA:79129
Hypophosphatemic Rickets, Autosomal Recessive, 2
Genu valgum, Carious teeth, Hypoplasia of teeth, Hypophosphatemic rickets, Genu varum, Coxa valga OMIM:613312
Spondylocamptodactyly Syndrome
Scoliosis, Camptodactyly of finger, Platyspondyly ORPHA:3180
Oculocerebrofacial Syndrome, Kaufman Type
Thin vermilion border, Short philtrum, Dyspnea, Respiratory distress, Flat occiput, Wide mouth, S... ORPHA:2707
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia, Short metatarsal, Short metacarpal, Brachydactyly OMIM:613382
Wrinkly Skin Syndrome
Scoliosis, Joint hypermobility, Cryptorchidism, Wormian bones, Carious teeth, Congenital hip disl... OMIM:278250
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Scoliosis, Cryptorchidism, Oligodontia, Narrow palate, Narrow mouth, Camptodactyly, Bilateral sin... OMIM:235510
Rothmund-Thomson Syndrome Type 2
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Synost... ORPHA:221016
Autosomal Dominant Brachyolmia
Abnormality of the metaphysis, Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Bronchial wall ... OMIM:610921
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Carious teeth, Abnormal dental enamel morphology, Anterior open-bite mal... OMIM:204700
Qazi-Markouizos Syndrome
Cryptorchidism, Hypoplasia of teeth, Open mouth, Broad philtrum, Drooling, Delayed ossification o... ORPHA:3010
Osteogenesis Imperfecta, Type Vii
Scoliosis, Wormian bones, Absent pulmonary artery, Death in infancy, Crumpled long bones, Bowing ... OMIM:610682
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Abnormality of dental morphology, Underdevelope... ORPHA:2025
Osteopathia Striata With Cranial Sclerosis
Scoliosis, Delayed closure of the anterior fontanelle, Large fontanelles, Dental crowding, Campto... OMIM:300373
Hypophosphatasia, Adult
Carious teeth, Chondrocalcinosis, Rickets, Premature loss of permanent teeth, Recurrent fractures... OMIM:146300
Schinzel-Giedion Syndrome
Scoliosis, Wormian bones, Camptodactyly, Short distal phalanx of finger, High palate, Micrognathi... ORPHA:798
Myhre Syndrome
Cryptorchidism, Narrow mouth, Camptodactyly, Mandibular prognathia, Respiratory insufficiency, Jo... OMIM:139210
Spondylocamptodactyly
Scoliosis, Camptodactyly of finger, Camptodactyly, Cervical platyspondyly OMIM:600000
Spondylometaphyseal Dysplasia, Schmidt Type
Genu valgum, Platyspondyly, Hypoplastic pelvis, Short long bone, Metaphyseal dysplasia, Joint dis... ORPHA:93316
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Osteolysis, Narrow palate, Gingival... ORPHA:3019
Ritscher-Schinzel Syndrome 3
Shortening of all distal phalanges of the fingers, Cryptorchidism, Epiphyseal stippling, Wide ant... OMIM:619135
Arthrogryposis Multiplex Congenita 6
Arthrogryposis multiplex congenita, Large fontanelles, Death in infancy, Neonatal death, Death in... OMIM:619334
Marshall Syndrome
Wide tufts of distal phalanges, Irregular distal femoral epiphysis, Ulnar bowing, Micrognathia, D... OMIM:154780
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Short nose, Short phalanx of finger, Midface retrusion, Camptodactyly, Tapered fing... OMIM:613458
Idiopathic Congenital Hypothyroidism
Macroglossia, Delayed proximal femoral epiphyseal ossification, Abnormality of epiphysis morpholo... ORPHA:95717
Cohen Syndrome
Joint hypermobility, Short metatarsal, Open mouth, Neutropenia, Leukopenia, High, narrow palate, ... OMIM:216550
Osteopetrosis, Autosomal Recessive 1
Carious teeth, Craniosynostosis, Frontal bossing, Sandwich appearance of vertebral bodies, Femur ... OMIM:259700
Myopathy, Centronuclear, X-Linked
Cryptorchidism, Flexion contracture, Respiratory failure requiring assisted ventilation, Neonatal... OMIM:310400
Stickler Syndrome, Type I
Scoliosis, Platyspondyly, Anteverted nares, Midface retrusion, Beaking of vertebral bodies, Kypho... OMIM:108300
Robinow Syndrome, Autosomal Dominant 1
Cryptorchidism, Bifid distal phalanx of toe, Narrow palate, Broad thumb, Downturned corners of mo... OMIM:180700
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Kyphosis, Flexion contracture, Sin... ORPHA:178148
Fibrochondrogenesis
Camptodactyly of finger, Abnormality of the ribs, Wide anterior fontanel, Narrow mouth, Abnormal ... ORPHA:2021
Gm1 Gangliosidosis
Scoliosis, Narrow mouth, Mandibular prognathia, Joint stiffness, Abnormality of the metaphysis, D... ORPHA:354
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Advanced ossification of carpal bones, Joint laxity, Long upper lip, Carpal synost... OMIM:615349
Hajdu-Cheney Syndrome
Scoliosis, Wormian bones, Hypoplastic 5th lumbar vertebrae, Thin vermilion border, Open bite, Nar... ORPHA:955
Camptodactyly Syndrome, Guadalajara, Type I
Hypoplastic 5th lumbar vertebrae, Wormian bones, Short metatarsal, Narrow mouth, Downturned corne... OMIM:211910
Spondylodysplastic Ehlers-Danlos Syndrome
Scoliosis, Cryptorchidism, Joint hypermobility, Narrow mouth, Abnormality of the elbow, Slender l... ORPHA:536471
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Preaxial hand polydactyly, Short metatarsal, Broad thumb, Frontal bossing, Abno... ORPHA:1278
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Long philtrum, Platyspondyly, Toe syndactyly, Elevated hepatic transaminase, Hepa... OMIM:618958
Ohdo Syndrome
Cryptorchidism, Thin vermilion border, Long philtrum, Hypoplasia of teeth, Joint laxity, Narrow m... OMIM:249620
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Short distal phalanx of toe, Thick vermilion border, Short 1s... OMIM:601957
Arthrogryposis, Distal, Type 3
Cryptorchidism, Arthrogryposis multiplex congenita, Congenital hip dislocation, Short phalanx of ... OMIM:114300
Epidermolysis Bullosa, Junctional, Herlitz Type
Enamel hypoplasia, Atrophic scars, Carious teeth, Death in infancy OMIM:226700
Cooper-Jabs Syndrome
Scoliosis, Camptodactyly of finger, Frontal bossing, Anteverted nares, Joint hyperflexibility, Um... ORPHA:1488
Thanatophoric Dysplasia Type 2
Platyspondyly, Frontal bossing, Joint hyperflexibility, Kyphosis, Micromelia, Cloverleaf skull, R... ORPHA:93274
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Frontal bossing, Everted lower lip vermilion, Short distal phalanx of ... ORPHA:181
Alaninuria With Microcephaly, Dwarfism, Enamel Hypoplasia, And Diabetes Mellitus
Enamel hypoplasia OMIM:202900
Dental Anomalies And Short Stature
Platyspondyly, Amelogenesis imperfecta, Oligodontia, Mandibular prognathia, Herniation of interve... OMIM:601216
Cockayne Syndrome Type 1
Scoliosis, Cryptorchidism, Enamel hypoplasia, Delayed eruption of primary teeth, Elevated hepatic... ORPHA:90321
Bruck Syndrome 2
Wormian bones, Platyspondyly, Talipes equinovarus, Flexion contracture, Inguinal hernia, Pterygiu... OMIM:609220
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Proximal femoral metaphyseal irregularity, Short nose, Frontal bossing, Rhizomelia... ORPHA:168549
Distal Monosomy 17Q
Abnormal thumb morphology, Narrow mouth, Abnormality of the philtrum, Aplasia/Hypoplasia of the u... ORPHA:1597
Apert Syndrome
Cryptorchidism, Anomalous tracheal cartilage, Narrow palate, Large fontanelles, Mandibular progna... OMIM:101200
Coffin-Siris Syndrome 3
Scoliosis, Macroglossia, Aplasia/Hypoplasia of the distal phalanges of the hand, Wide mouth, Depr... OMIM:614608
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Flexion contracture, Respiratory failure, Respiratory insufficiency OMIM:613869
Focal Dermal Hypoplasia
Scoliosis, Cryptorchidism, Oligodontia, Enamel hypoplasia, Short metatarsal, Joint laxity, Congen... OMIM:305600
Gm1-Gangliosidosis, Type Ii
Sea-blue histiocytosis, Platyspondyly, Coxa valga OMIM:230600
Intermediate Nemaline Myopathy
Long philtrum, Arthrogryposis multiplex congenita, Flexion contracture, Multiple prenatal fractur... ORPHA:171433
Moebius Syndrome
Arthrogryposis multiplex congenita, Short phalanx of finger, Split hand, Camptodactyly, Lower lim... OMIM:157900
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Pursed lips, Platyspondyly, Narrow mouth, Deep philtrum, Flexion contracture, Absent ossification... OMIM:245160
Rothmund-Thomson Syndrome
Carious teeth, Abnormal dental enamel morphology, Hypoplasia of teeth, Neutropenia, Increased sus... ORPHA:2909
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation
Anterior beaking of lumbar vertebrae, Platyspondyly, Short greater sciatic notch, Coxa valga OMIM:271620
Autosomal Dominant Hypophosphatemic Rickets
Iron deficiency anemia, Rickets, Tooth abscess, Osteomalacia, Bowing of the legs ORPHA:89937
Amelogenesis Imperfecta, Hypoplastic/Hypomaturation, X-Linked 2
Amelogenesis imperfecta OMIM:301201
Amelogenesis Imperfecta, Type Ib
Amelogenesis imperfecta OMIM:104500
Hajdu-Cheney Syndrome
Foot acroosteolysis, Cryptorchidism, Wormian bones, Joint laxity, Pathologic fracture, High palat... OMIM:102500
Tetrasomy 12P
Long philtrum, Delayed eruption of teeth, Abnormal soft palate morphology, Downturned corners of ... ORPHA:884
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular acetabular roof, Platyspondyly, Enlarged joints, Carpal bone hypoplasia, Severe carpal ... OMIM:184252
Lowry-Maclean Syndrome
Craniosynostosis, Downturned corners of mouth, Choanal atresia, Small anterior fontanelle, Trigon... ORPHA:2409
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Ovoid vertebral bodies, Decreased proportion of naive C... ORPHA:1830
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Disc-like vertebral bodies, Decreased cranial base ossification, Hypoplastic ilia, Severe limb sh... OMIM:151210
Short Syndrome
Delayed eruption of teeth, Joint laxity, Downturned corners of mouth, Frontal bossing, Midface re... OMIM:269880
Pfeiffer-Palm-Teller Syndrome
Enamel hypoplasia, Joint stiffness OMIM:261560
Potocki-Shaffer Syndrome
Wormian bones, Short philtrum, Short nose, Downturned corners of mouth, Underdeveloped nasal alae... OMIM:601224
Sanjad-Sakati Syndrome
Cryptorchidism, Thin vermilion border, Abnormal dental enamel morphology, Long philtrum, Abnormal... ORPHA:2323
Osteogenesis Imperfecta, Type Xxi
Osteoporosis, Joint hypermobility, Wormian bones, Scoliosis, Platyspondyly, Recurrent fractures, ... OMIM:619131
Trichorhinophalangeal Syndrome Type 1 And 3
Scoliosis, Camptodactyly of finger, Hyperlordosis, Long philtrum, Short metatarsal, Bulbous nose,... ORPHA:77258
Sotos Syndrome 1
Scoliosis, Genu valgum, Narrow palate, Joint laxity, Frontal bossing, Mandibular prognathia, High... OMIM:117550
Trisomy 9P
Scoliosis, Impacted tooth, Downturned corners of mouth, Dental crowding, Kyphosis, Sacral dimple,... ORPHA:236
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Kyphosis, Short mandibular rami, Dental malocclusion, Tongue atrophy OMIM:141300
Achondrogenesis, Type Ib
Stillbirth, Hypoplastic ilia, Umbilical hernia, Short ribs, Absent or minimally ossified vertebra... OMIM:600972
Nasodigitoacoustic syndrome
Broad distal phalanx of finger, Short 3rd metacarpal, Narrow palate, Short phalanx of finger, Fro... OMIM:255980
Cardiospondylocarpofacial Syndrome
Failure of eruption of permanent teeth, Tooth malposition, Abnormal form of the vertebral bodies,... ORPHA:3238
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Agenesis of permanent teeth, Abnormality of dental morphology, Everted... ORPHA:2228
Brachytelephalangic Chondrodysplasia Punctata
Epiphyseal stippling, Tracheal calcification, Short distal phalanx of toe, Respiratory failure re... ORPHA:79345
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Short phalanx of finger, Carpal bone hypoplasia, Death in infancy, Anemia, Phocomeli... OMIM:274000
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Open mouth, Camptodactyly, Choanal atresia, Trigonocephaly, Short thumb, High pal... OMIM:619148
Antley-Bixler Syndrome
Camptodactyly of finger, Long philtrum, Craniosynostosis, Femoral bowing, Narrow mouth, Frontal b... ORPHA:83
Marbach-Rustad Progeroid Syndrome
Wormian bones, Delayed eruption of primary teeth, Narrow mouth, Midface retrusion, Femur fracture... OMIM:619322
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Scoliosis, Narrow palate, Bulbous nose, Flexion contracture, Tented upper lip vermilion, Tapered ... OMIM:616505
Dentinogenesis Imperfecta 1
Dentinogenesis imperfecta OMIM:125490
Amelogenesis Imperfecta, Type Ih
Enamel hypoplasia, Amelogenesis imperfecta, Dental enamel pits, Yellow-brown discoloration of the... OMIM:616221
Mohr Syndrome
Scoliosis, Wormian bones, Metaphyseal irregularity, Tongue nodules, Short palm, Lobulated tongue,... OMIM:252100
Proximal Spinal Muscular Atrophy
Scoliosis, Recurrent aspiration pneumonia, Restrictive ventilatory defect, Hypoventilation, Dista... ORPHA:70
Rothmund-Thomson Syndrome Type 1
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Short phalanx of finger, Neutro... ORPHA:221008
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormality of the liver ORPHA:132
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phalanges (feet)... OMIM:248370
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Abnormal dental enamel morphology, Anterior open-bite malocclusion OMIM:612529
Cartilage-Hair Hypoplasia