Gene: Ccn2 MGI:95537

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

cellular communication network factor 2

Synonyms:

Fisp12, Ctgf, Hcs24, Ccn2, hypertrophic chondrocyte-specific gene product 24

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 Ccn2 mutations

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

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

Human diseases associated with Ccn2 (2 diseases)
Human diseases predicted to be associated with Ccn2 (1444 diseases)

The table below shows human diseases associated to Ccn2 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Limited Cutaneous Systemic Sclerosis		Joint contracture of the hand, Narrow foramen obturatorium, Foot joint contracture, Pulmonary fib...	ORPHA:220402
Diffuse Cutaneous Systemic Sclerosis		Carious teeth, Xerostomia, Narrow foramen obturatorium, Arthritis, Flexion contracture, Pulmonary...	ORPHA:220393

The table below shows human diseases predicted to be associated to Ccn2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Cystic Angiomatosis Of Bone, Diffuse	Cystic angiomatosis of bone	OMIM:123880
Superior Transverse Scapular Ligament, Calcification Of, Familial	Ectopic ossification in ligament tissue	OMIM:601708
Atelosteogenesis, Type Ii	Micrognathia, Increased intervertebral space, Talipes equinovarus, Short neck, Short greater scia...	OMIM:256050
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Thin ribs, Radial bowing, Severe limb shortening, Short neck, Flat acetabular roof, Hypoplastic i...	OMIM:151210
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Abnormal epiphysis morphology, Elbow dislocation, Retrognathia, Camptodactyly of finger, Abnormal...	ORPHA:2631
Achondroplasia	Radial bowing, Narrow vertebral interpedicular distance, Genu varum, Thoracic hypoplasia, Femoral...	OMIM:100800
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Intestinal malrotation, Micrognathia, Tibial bowing, Lower limb undergrowth, Bowin...	ORPHA:3035
Metaphyseal Dysplasia, Braun-Tinschert Type	Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin...	ORPHA:85188
Odontochondrodysplasia 1	Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac...	OMIM:184260
Multiple Epiphyseal Dysplasia Type 4	Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho...	ORPHA:93307
Kniest Dysplasia	Delayed epiphyseal ossification, Limitation of joint mobility, Hip contracture, Short neck, Lumba...	OMIM:156550
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Platyspondyly, Metaphyseal cupping, Rhizomelia, Radial bowing, Flared meta...	OMIM:602111
Achondrogenesis Type 2	Hypoplastic ilia, Narrow chest, Unossified sacrum, Cardiorespiratory arrest, Micromelia, Absent v...	ORPHA:93296
Atelosteogenesis, Type I	Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea...	OMIM:108720
Spondylometaphyseal Dysplasia, Kozlowski Type	Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R...	ORPHA:93314
Atelosteogenesis, Type Iii	Radial bowing, Elbow dislocation, Micrognathia, Talipes equinovarus, Short neck, Cervical segment...	OMIM:108721
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondylolisthesis at L5-S1, Os...	OMIM:600561
Metatropic Dysplasia	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace...	OMIM:156530
Dysosteosclerosis	Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Increased interverte...	OMIM:224300
Stuve-Wiedemann Syndrome 1	Wide nasal base, Thin ribs, Carious teeth, Short tibia, Pursed lips, Micrognathia, Metaphyseal ra...	OMIM:601559
Van Den Ende-Gupta Syndrome	Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi...	OMIM:600920
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Respiratory insufficiency due to muscle weakness, Flexion contracture, Scol...	OMIM:300717
Ulnar Hemimelia	Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal...	ORPHA:93320
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Abnormal vertebral morphology, Limitation of joint mobility, Fibular bowing...	ORPHA:1427
Dyggve-Melchior-Clausen Disease	Hypoplastic scapulae, Hypoplasia of the odontoid process, Limitation of joint mobility, Hypoplast...	OMIM:223800
Osteogenesis Imperfecta, Type X	Thin ribs, Genu valgum, Fibular bowing, Micrognathia, Death in childhood, Bowing of the long bone...	OMIM:613848
Lethal Congenital Contracture Syndrome 3	Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu...	OMIM:611369
Osteoporosis	Osteoporosis	OMIM:166710
Léri-Weill Dyschondrosteosis	Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a...	ORPHA:240
Metatropic Dysplasia	Depressed nasal bridge, Narrow chest, Scoliosis, Coarse metaphyseal trabecularization, Hypoplasti...	ORPHA:2635
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Ivory epiphyses, Hypoplastic scapulae, Radial bowing, Hypoplastic iliac wing, Long clavicles, Con...	OMIM:210720
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ...	ORPHA:2141
Acromesomelic Dysplasia 4	Radial bowing, Prominent deltoid tuberosities, Genu valgum, Beaking of vertebral bodies, Broad to...	OMIM:619636
Kyphomelic Dysplasia	Limitation of joint mobility, Radial bowing, Micrognathia, Talipes equinovarus, Anterior rib cupp...	OMIM:211350
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Micrognathia, Knee flexion contracture...	OMIM:616531
Acrocapitofemoral Dysplasia	Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep...	OMIM:607778
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ankle flexion contracture, Dental crowding, Retrognathia, Arthrogryposis multiplex congenita, Int...	OMIM:617468
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Platyspondyly, Radial bowing, Vertebral wedging, Preaxial polydactyly, Micromelia, Intestinal mal...	OMIM:617866
Achondrogenesis, Type Ia	Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral met...	OMIM:200600
Campomelic Dysplasia	Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv...	OMIM:114290
Greenberg Dysplasia	Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Microgna...	OMIM:215140
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Thanatophoric Dysplasia, Type I	Small abnormally formed scapulae, Hypoplastic ilia, Platyspondyly, Narrow chest, Neonatal respira...	OMIM:187600
Catel-Manzke Syndrome	Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Joint stiffness, Radial de...	ORPHA:1388
Lethal Congenital Contracture Syndrome Type 1	Limitation of joint mobility, Abnormal form of the vertebral bodies, Slender long bone, Abnormal ...	ORPHA:1486
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Decreased fibular diameter, Micrognathia, Decreased skull ossification, Short neck, Multiple pren...	OMIM:616897
Marshall Syndrome	Radial bowing, Thick upper lip vermilion, Micrognathia, Knee osteoarthritis, Absent frontal sinus...	OMIM:154780
Osteogenesis Imperfecta, Type Ii	Platyspondyly, Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long...	OMIM:166210
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Multiple Synostoses Syndrome 1	Hypoplastic nasal septum, Carpal synostosis, Thick upper lip vermilion, Cutaneous finger syndacty...	OMIM:186500
Leri-Weill Dyschondrosteosis	Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing, Abnormal ...	OMIM:127300
Platyspondylic Dysplasia, Torrance Type	Platyspondyly, Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Depress...	ORPHA:85166
Dyssegmental Dysplasia, Silverman-Handmaker Type	Limitation of joint mobility, Broad long bones, Micrognathia, Narrow mouth, Talipes equinovarus, ...	ORPHA:1865
Atelosteogenesis Type Ii	Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Equinovarus deformity, Genu v...	ORPHA:56304
Weismann-Netter Syndrome	Aplasia/Hypoplasia of the radius, Abnormal form of the vertebral bodies, Abnormal tibia morpholog...	ORPHA:3344
Osteogenesis Imperfecta, Type Iii	Thin ribs, Dentinogenesis imperfecta, Wide anterior fontanel, Slender long bone, Micrognathia, Re...	OMIM:259420
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Abnormality of the dentition, Pectus carinatum, Finger syndactyly, Radioulnar synostosis, Abnorma...	ORPHA:3268
Osteogenesis Imperfecta, Type Viii	Thin ribs, Radial bowing, Barrel-shaped chest, Decreased skull ossification, Multiple prenatal fr...	OMIM:610915
Diastrophic Dysplasia	Hypoplastic cervical vertebrae, Elbow dislocation, Micrognathia, Bowing of the long bones, Abnorm...	ORPHA:628
Campomelic Dysplasia	Micrognathia, Bowing of the long bones, Talipes equinovarus, Short neck, Hypoplastic inferior ili...	ORPHA:140
Vitamin D-Dependent Rickets, Type 2A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Wide nasal bridge, Carious teeth,...	OMIM:277440
Ritscher-Schinzel Syndrome 3	Short 1st metacarpal, Short first metatarsal, Anteverted nares, Epiphyseal stippling, Micrognathi...	OMIM:619135
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino...	OMIM:271640
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ...	OMIM:143095
Bent Bone Dysplasia Syndrome 2	Thin ribs, Short tibia, Hypoplastic iliac wing, Talipes equinovarus, Short neck, Osteopenia, Shor...	OMIM:620076
Diaphanospondylodysostosis	Micrognathia, Bell-shaped thorax, Decreased skull ossification, Talipes equinovarus, Short neck, ...	OMIM:608022
Bowen-Conradi Syndrome	Abnormal lung lobation, Camptodactyly of finger, Prominent nose, Micrognathia, Joint stiffness, D...	ORPHA:1270
Thanatophoric Dysplasia	Platyspondyly, Abnormal ilium morphology, Depressed nasal bridge, Narrow chest, Micromelia, Short...	ORPHA:2655
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Abnormal vertebral morphology, Wide nasal bridge, Clinodactyly, ...	ORPHA:166024
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Bulging epiphyses, Delay...	OMIM:264700
Acro-Renal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Finger syndactyly, Rudimentary fibula, Micrognathia, Short neck,...	ORPHA:958
Robinow Syndrome, Autosomal Recessive 1	Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Thoracic hemiv...	OMIM:268310
Otopalatodigital Syndrome, Type Ii	Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia...	OMIM:304120
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio...	OMIM:600081
Weismann-Netter Syndrome	Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Horizontal sacrum, C...	OMIM:112350
Marshall-Smith Syndrome	Atlantoaxial dislocation, Hypoplasia of the odontoid process, Aspiration pneumonia, Irregular den...	OMIM:602535
Langer Mesomelic Dysplasia	Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni...	OMIM:249700
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Broad nasal tip, Abnormal ster...	ORPHA:166016
Geroderma Osteodysplasticum	Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Osteopenia, Periodontitis...	OMIM:231070
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Radial bowing, Genu valgum, Thoracolumbar scoliosis, Metaphyseal dysplasia, Ovoid vertebral bodie...	OMIM:618019
Cartilage-Hair Hypoplasia	Small hand, Bowing of the long bones, Short neck, Diaphyseal undertubulation, Metaphyseal dysplas...	ORPHA:175
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Congenital Absence Of Upper Arm And Forearm With Hand Present	Abnormality of the vertebral column, Abnormal hip bone morphology, Abnormal thorax morphology, Po...	ORPHA:294975
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Microglossia, Mic...	OMIM:241800
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Abnormal vertebral morphology, Limitation of joint mobility, Clinodactyly, Hypoplastic iliac wing...	ORPHA:93315
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Abnormal pelvic girdle bone morphology, Rachitic rosary, Rickets, S...	OMIM:307800
Momo Syndrome	Wide nasal base, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip v...	ORPHA:2563
Anauxetic Dysplasia 3	Broad middle phalanx of finger, Genu valgum, Beaking of vertebral bodies, Thoracolumbar kyphoscol...	OMIM:618853
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Genu valgum, Micrognathia, Anterior concavity of thoraci...	OMIM:309350
Spondyloepimetaphyseal Dysplasia, Missouri Type	Pear-shaped vertebrae, Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee os...	ORPHA:93356
Gordon Syndrome	Limitation of joint mobility, Finger syndactyly, Camptodactyly of finger, Talipes, Pectus excavat...	ORPHA:376
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ...	ORPHA:96334
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Retrognathia, Elbow flexion contracture, Distal arthrogryposis, Flexion contra...	OMIM:617194
Dyssegmental Dysplasia, Silverman-Handmaker Type	Wide nasal bridge, Anisospondyly, Micromelia, Thoracic hypoplasia, Respiratory insufficiency, Mic...	OMIM:224410
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Decrea...	OMIM:164900
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Spondylometaphyseal Dysplasia, X-Linked	Platyspondyly, Kyphosis, Short finger, Hyperextensibility of the finger joints, Respiratory insuf...	OMIM:313420
Tarp Syndrome	Finger syndactyly, Clinodactyly, Micrognathia, Talipes equinovarus, Pierre-Robin sequence, Abnorm...	ORPHA:2886
Ulbright-Hodes Syndrome	Thin ribs, Fibular aplasia, Micrognathia, Narrow mouth, Humeroradial synostosis, Talipes equinova...	ORPHA:3404
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Underdeveloped nasal alae, Abnormal lung lobation, Micrognathia, Decreased skull os...	OMIM:263210
Atelosteogenesis Type I	Platyspondyly, Pulmonary hypoplasia, Rhizomelia, Narrow chest, Thoracic hypoplasia, Absent or min...	ORPHA:1190
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Genu val...	OMIM:600785
Shox-Related Short Stature	Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ...	ORPHA:314795
Microcephaly-Micromelia Syndrome	Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Wide nose, Humer...	OMIM:251230
Blomstrand Lethal Chondrodysplasia	Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Protruding tongue, B...	ORPHA:50945
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Choanal atresia, Depressed nasal bridge, Coronal craniosynostosis, N...	OMIM:207410
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Short nec...	OMIM:271665
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio...	OMIM:241530
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Natal tooth, Short tibia, Bell-shaped thorax, Anal atresia, Flat acetabular roof, Patent ductus a...	OMIM:616300
Microphthalmia With Limb Anomalies	Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, 2-5 toe syndact...	OMIM:206920
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Hypoplastic ilia, Pulmonary hypoplasia, Depressed nasal bridge, Narrow chest, Micromelia, Long ph...	OMIM:617895
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Atlantoaxial dislocation, Carious teeth, Dysplasia of the femoral head, Micrognathia, Arachnodact...	ORPHA:536467
Multiple Pterygium Syndrome, X-Linked	Thin ribs, Depressed nasal ridge, Cleft upper lip, Short finger, Micrognathia, Increased suscepti...	OMIM:312150
Boomerang Dysplasia	Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology...	ORPHA:1263
Fibular Hemimelia	Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Short tibia, Limited knee flexio...	ORPHA:93323
Heart Defects-Limb Shortening Syndrome	Narrow chest, Abnormal form of the vertebral bodies, Mesomelic/rhizomelic limb shortening, Abnorm...	ORPHA:1354
Spondyloepiphyseal Dysplasia Tarda	Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Limitation of joint mob...	ORPHA:93284
Congenital Arthrogryposis With Anterior Horn Cell Disease	Hand clenching, Arthrogryposis multiplex congenita, Retrognathia, Micrognathia, Single transverse...	OMIM:611890
Orofaciodigital Syndrome Iii	Bifid uvula, Postaxial foot polydactyly, Tongue nodules, Bulbous nose, Microdontia, Short sternum...	OMIM:258850
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Pulmonary artery atresia, Retrognathia, Bulbous nose, Thick vermilion border, Clinodactyly of the...	OMIM:620113
Endosteal Hyperostosis, Worth Type	Sclerotic vertebral body, Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Abnor...	ORPHA:2790
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Abnormality of the dentition, Pectus carinatum, Joint stiffness, Bilateral single transverse palm...	ORPHA:1548
Acromesomelic Dysplasia 1	Radial bowing, Long hallux, Beaking of vertebral bodies, Broad phalanx, Cone-shaped epiphyses of ...	OMIM:602875
Cornelia De Lange Syndrome 1	Micrognathia, Short neck, High palate, Dislocated radial head, High, narrow palate, Choanal atres...	OMIM:122470
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Broad thumb, Micrognathia, Narrow mouth, Talipes equinovarus, Short neck, Abnormality...	ORPHA:251028
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Turnpenny-Fry Syndrome	Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Prominent nasal tip, High palate, Thorac...	OMIM:618371
Premature Aging Syndrome, Penttinen Type	Thin ribs, Micrognathia, Aplasia of the nasal bone, Flexion contracture of finger, Short foot, Sh...	OMIM:601812
Tarp Syndrome	Wide nasal bridge, Meckel diverticulum, Clinodactyly, Anteverted nares, Micrognathia, Glossoptosi...	OMIM:311900
Otopalatodigital Syndrome Type 2	Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ...	ORPHA:90652
Mesomelic Limb Shortening And Bowing	Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Bowing of the arm, Micrognathia,...	OMIM:249710
Marden-Walker Syndrome	High, narrow palate, Pyloric stenosis, Joint contracture of the hand, Wide anterior fontanel, Con...	OMIM:248700
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Abnormal form of the vertebral bodies, Abnormal lip morpholog...	ORPHA:2759
Lethal Congenital Contracture Syndrome 10	Narrow palate, Narrow chest, Long philtrum, Stiff neck, Broad ribs, Overlapping fingers, Femoral ...	OMIM:617022
Congenital Myopathy 22B, Severe Fetal	Thin ribs, Micrognathia, Hip contracture, Talipes, Short neck, High palate, Short nose, Spinal ri...	OMIM:620369
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Cutis Laxa, Autosomal Recessive, Type Iie	Wide nasal bridge, Broad nasal tip, Pectus excavatum, Short thorax, Long philtrum, Thick lower li...	OMIM:619451
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Long philtrum, Radial club hand, Abnormal dental morphology, Abnormality of the wri...	ORPHA:2878
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Hypoplastic inferior ilia, Short metacarpal, Ovoid vertebral bodies, Femoral bowing, Tibial bowin...	OMIM:608940
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Pulmonary hypoplasia, Thoracic hypoplasia, Anteverted nares, Upper limb undergrowth	OMIM:613124
Metaphyseal Chondrodysplasia, Schmid Type	Broad middle phalanx of finger, Distal tibial bowing, Genu valgum, Genu varum, Irregular vertebra...	OMIM:156500
Osteogenesis Imperfecta, Type Xix	Dentinogenesis imperfecta, Rhizomelia, Osteopenia, Pectus carinatum, Vertebral wedging, Bowing of...	OMIM:301014
Multiple Pterygium Syndrome, Lethal Type	Thin ribs, Depressed nasal ridge, Short finger, Micrognathia, Increased susceptibility to fractur...	OMIM:253290
Axial Spondylometaphyseal Dysplasia	Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula...	ORPHA:168549
Raine Syndrome	Natal tooth, Arthrogryposis multiplex congenita, Long hallux, Micrognathia, Narrow mouth, Protrud...	OMIM:259775
Jeune Syndrome	Abnormal pelvic girdle bone morphology, Toe syndactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Overlapping toe, Overlapping fingers, Patent ductus arteriosus, Short nose, Thin upper lip vermil...	OMIM:618316
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Kagami-Ogata Syndrome	Thin ribs, Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteve...	OMIM:608149
Achondrogenesis Type 1B	Narrow chest, Micromelia, Long philtrum, Abnormal enchondral ossification, Short thorax, Antevert...	ORPHA:93298
Acrocapitofemoral Dysplasia	Pectus carinatum, Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Abnormal femoral neck ...	ORPHA:63446
W Syndrome	Depressed nasal bridge, Upper lip pit, Broad nasal tip, Broad uvula, Radial bowing, Clinodactyly,...	ORPHA:2804
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Bowing of the long bones, High palate, Flat acetabu...	OMIM:614091
Achondrogenesis Type 1A	Narrow chest, Micromelia, Long philtrum, Abnormal enchondral ossification, Short thorax, Antevert...	ORPHA:93299
Tonne-Kalscheuer Syndrome	Wide nasal bridge, Broad thumb, Velopharyngeal insufficiency, Downturned corners of mouth, Widely...	OMIM:300978
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Broad foot, Neonatal death, Short neck, Short foot, Patent duc...	OMIM:269860
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Short tibia, Micrognathia, Neonatal death, Short neck, Anal atresia, Cleft lip, Hama...	OMIM:617925
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Bulbous nose, Anteverted nares, Single transverse palmar crease, Neonatal deat...	OMIM:236500
Cleidocranial Dysplasia	Hypoplastic scapulae, Carious teeth, Open bite, Genu valgum, Micrognathia, Decreased skull ossifi...	ORPHA:1452
Opsismodysplasia	Depressed nasal bridge, Narrow chest, Broad thumb, Abnormal epiphysis morphology, Respiratory ins...	ORPHA:2746
Osteogenesis Imperfecta, Type Xii	Generalized osteoporosis, Depressed nasal bridge, Dentinogenesis imperfecta, Pectus carinatum, Hy...	OMIM:613849
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Micrognathia, Bowing of the long bones, Hip disloca...	ORPHA:2484
Microphthalmia With Limb Anomalies	Synostosis of joints, Hypoplasia of the premaxilla, Toe syndactyly, Synostosis of carpal bones, F...	ORPHA:1106
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Short distal phalanx of finger, Patellar dislocation, Short thumb, Sandal gap, Broad hallux, Over...	OMIM:618167
Acromesomelic Dysplasia 2C	Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia...	OMIM:201250
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Respiratory insufficiency, Neonatal death, Abnormal cartilage matrix, Pulmonary h...	OMIM:245650
Three M Syndrome 1	Short neck, Pes planus, Hip dislocation, Short 5th finger, Increased vertebral height, Short thor...	OMIM:273750
Orofaciodigital Syndrome Type 3	Bifid uvula, Abnormality of the dentition, Postaxial foot polydactyly, Lobulated tongue, Hamartom...	ORPHA:2752
Fibrodysplasia Ossificans Progressiva	Broad femoral neck, Short 1st metacarpal, Small cervical vertebral bodies, Respiratory insufficie...	OMIM:135100
Scarf Syndrome	Wide nasal base, Pectus carinatum, Abnormal form of the vertebral bodies, Long philtrum, Joint hy...	ORPHA:3134
Holt-Oram Syndrome	Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Kyphosis, Abnorma...	ORPHA:392
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Pectus carinatum, Anodontia, Oligodontia, Tapered finger, Everted lower lip vermilion, Large hand...	ORPHA:276630
Baller-Gerold Syndrome	Abnormal vertebral morphology, Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Narr...	OMIM:218600
Spondylometaphyseal Dysplasia, Type A4	Platyspondyly, Pectus carinatum, Irregular patellae, Hypoplasia of the capital femoral epiphysis,...	OMIM:609052
Hypocalcemic Vitamin D-Dependent Rickets	Delayed epiphyseal ossification, Subperiosteal bone resorption, Rachitic rosary, Rickets, Delayed...	ORPHA:289157
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Metaphyseal spurs, Micromelia, Posterior rib cupping, Irregular epiphyses, Thoraci...	OMIM:608728
Vacterl Association With Hydrocephalus	Abnormal vertebral morphology, Absent thumb, Abnormality of the vertebral column, Respiratory ins...	OMIM:276950
Momo Syndrome	Wide nasal bridge, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip...	OMIM:157980
Spondylodysplastic Ehlers-Danlos Syndrome	Abnormal vertebral morphology, Subluxation of the small joints of the hand, Dysplasia of the femo...	ORPHA:536471
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Clinodactyly of the 2nd finger, Genu valgum, Prominent nasal tip, Pes planus, Finger joint hyperm...	OMIM:618870
Hypophosphatasia	Abnormality of the dentition, Narrow chest, Respiratory insufficiency, Emphysema, Bowing of the l...	ORPHA:436
Multiple Pterygium Syndrome, Escobar Variant	Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia, Narrow mouth, Arachno...	OMIM:265000
Desbuquois Dysplasia 2	Epiphyseal dysplasia, Broad thumb, Broad foot, Short neck, Pes planus, Advanced ossification of c...	OMIM:615777
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Cone-shaped epiphysis, Unilateral cleft lip, Narrow nasal bridge, Abnormal...	ORPHA:2511
Cranioectodermal Dysplasia	Short distal phalanx of finger, Rhizomelia, Abnormality of the dentition, Narrow chest, Finger sy...	ORPHA:1515
Metaphyseal Chondrodysplasia, Schmid Type	Abnormal vertebral morphology, Radial metaphyseal irregularity, Anterior rib cupping, Genu varum,...	ORPHA:174
Robin Sequence-Oligodactyly Syndrome	Finger aplasia, Abnormality of the dentition, Abnormal form of the vertebral bodies, Micrognathia...	ORPHA:3104
Eng-Strom Syndrome	Camptodactyly of finger, Brachydactyly, Arthritis, Pectus excavatum, Scoliosis	ORPHA:1937
Osteomesopyknosis	Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog...	ORPHA:2777
Chromosome 1Q41-Q42 Deletion Syndrome	Depressed nasal bridge, Broad nasal tip, Sandal gap, Cleft upper lip, Widely spaced teeth, Anteve...	OMIM:612530
Mucopolysaccharidosis, Type Iva	Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Short nec...	OMIM:253000
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Platyspondyly, Wide nasal bridge, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Downtu...	ORPHA:93267
Fibrodysplasia Ossificans Progressiva	Synostosis of joints, Abnormal vertebral morphology, Limitation of joint mobility, Respiratory in...	ORPHA:337
Alg3-Cdg	Osteopenia, Abnormality of the nose, Metaphyseal chondrodysplasia, Abnormal limb bone morphology,...	ORPHA:79321
Pontocerebellar Hypoplasia, Type 1C	Death in childhood, Respiratory failure, Joint contracture, Respiratory insufficiency	OMIM:616081
Scarf Syndrome	Wide nasal bridge, Lambdoidal craniosynostosis, Coronal craniosynostosis, Pectus carinatum, Abnor...	OMIM:312830
Postaxial Oligodactyly, Tetramelic	Postaxial foot polydactyly, Cone-shaped epiphysis, Radial bowing, Postaxial oligodactyly, Lunate-...	OMIM:176240
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Carious teeth, Prominent nose, Prominent nasal bridge, Abnormal pal...	ORPHA:3270
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba...	OMIM:276820
Congenital Myopathy 10A, Severe Variant	Camptodactyly of finger, Respiratory insufficiency, Talipes equinovarus, Pectus excavatum, High p...	OMIM:614399
Ullrich Congenital Muscular Dystrophy	Slender finger, Kyphosis, Elbow flexion contracture, Wrist hypermobility, Increased laxity of fin...	ORPHA:75840
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy...	OMIM:228930
Craniofrontonasal Dysplasia	Finger syndactyly, Sprengel anomaly, High palate, Depressed nasal ridge, Orofacial cleft, Brachyd...	ORPHA:1520
Microphthalmia, Syndromic 12	Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation, Micrognathia, Neonatal ...	OMIM:615524
Tetrasomy 5P	Wide nasal bridge, Long philtrum, Overlapping toe, Anteverted nares, Micrognathia, Talipes equino...	ORPHA:3309
Schinzel-Giedion Syndrome	Overlapping toe, Overlapping fingers, Micrognathia, Radioulnar synostosis, Short neck, High palat...	ORPHA:798
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hyporeflexia of lower limbs, Pes cavus, Hip contracture, Knee flexion contracture, Distal lower l...	OMIM:615290
Glass Syndrome	Micrognathia, Narrow mouth, Arachnodactyly, Talipes equinovarus, Long nose, High palate, Pierre-R...	OMIM:612313
Autosomal Recessive Multiple Pterygium Syndrome	Neonatal respiratory distress, Limitation of joint mobility, Finger syndactyly, Long philtrum, Ca...	ORPHA:2990
Camptodactyly Syndrome, Guadalajara Type 1	Toe syndactyly, Open bite, Narrow mouth, High palate, Short nose, Pectus carinatum, Short toe, Do...	ORPHA:1327
Fetal Akinesia Deformation Sequence	Depressed nasal bridge, Arthrogryposis multiplex congenita, Camptodactyly of finger, Respiratory ...	ORPHA:994
Martsolf Syndrome 1	Tooth malposition, Micrognathia, Talipes equinovarus, Pes planus, Broad fingertip, Finger joint h...	OMIM:212720
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Broad foot, Talipes equinovarus, 2-3 finger syndac...	OMIM:312870
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Toe syndactyly, Intestinal malrotation, Anteverted nares, Amelia, Decreased skull ossification, S...	OMIM:601163
Congenital Myopathy 17	Hand clenching, Pulmonary hypoplasia, Narrow chest, Dental malocclusion, Clinodactyly, Long philt...	OMIM:618975
Spinal Muscular Atrophy, Type I	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Craniosynostosis, Herrmann-Opitz Type	Micromelia, Finger syndactyly, Abnormal rib morphology, Micrognathia, Malar flattening, Brachydac...	ORPHA:2145
Hip Dysplasia, Beukes Type	Broad femoral neck, Abnormal epiphysis morphology, Kyphosis, Abnormality of the epiphysis of the ...	ORPHA:2114
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Broad foot, Talipes, Short neck, Pes planus, Everted lower lip ver...	ORPHA:915
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Broad long bones, Thick upper lip vermilion, Abnormal metatarsal morphology, Short neck, Aplasia/...	ORPHA:163654
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Cleft soft palate, Ulnar d...	OMIM:142900
Osteogenesis Imperfecta, Type Ix	Platyspondyly, Dentinogenesis imperfecta, Pectus carinatum, Recurrent fractures, Bowing of limbs ...	OMIM:259440
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Delayed epiphyseal ossification, Thick upper lip vermilion, Hypoplastic iliac wing, Carpal bone h...	OMIM:611717
Multiple Osteochondromas	Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,...	ORPHA:321
Ulnar Hypoplasia	Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio...	OMIM:191440
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Platyspondyly, Depressed nasal bridge, Rhizomelia, Wide anterior fontanel, Narrow chest, Lumbar h...	OMIM:616482
Endocrine-Cerebroosteodysplasia	Natal tooth, Thick upper lip vermilion, Fibular bowing, Micrognathia, Barrel-shaped chest, Talipe...	OMIM:612651
Metaphyseal Dysplasia, Spahr Type	Metaphyseal sclerosis, Genu valgum, Bowing of the legs, Metaphyseal chondrodysplasia, Metaphyseal...	OMIM:250400
Congenital Insensitivity To Pain With Severe Intellectual Disability	Talipes equinovalgus, Osteomyelitis, Prominent nose, Micrognathia, Tibial bowing, Congenital bila...	ORPHA:453510
Phocomelia, Schinzel Type	Radial bowing, Abnormal tibia morphology, Fibular aplasia, Micrognathia, Humeroradial synostosis,...	ORPHA:2879
Kyphomelic Dysplasia	Narrow chest, Limitation of joint mobility, Micromelia, Abnormal form of the vertebral bodies, Sh...	ORPHA:1801
Dyggve-Melchior-Clausen Disease	Epiphyseal dysplasia, Hypoplasia of the odontoid process, Genu valgum, Short neck, Beaking of ver...	ORPHA:239
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact...	OMIM:308050
Acrorenal-Mandibular Syndrome	Thin ribs, Hypoplastic scapulae, Toe syndactyly, Abnormal sacral segmentation, Rudimentary fibula...	OMIM:200980
Osteogenesis Imperfecta	Thin ribs, Carious teeth, Abnormal tibia morphology, Enlarged vertebral pedicles, Genu valgum, Mi...	ORPHA:666
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplastic iliac wing, Foot polydactyly, Cone-shaped epiphyses of the phalanges of the hand, Res...	OMIM:208500
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Wide nasal bridge, Broad nasal tip, Clinodactyly, Smooth philtrum, Everted lower lip vermilion, T...	ORPHA:73273
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short distal phalanx of finger, Epiphyseal stippling, Talipes equinovarus, Abnormal cartilage mat...	ORPHA:86822
Grant Syndrome	Micrognathia, Tibial bowing, Down-sloping shoulders	OMIM:138930
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Schinzel-Giedion Midface Retraction Syndrome	Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Short neck, Abnormal nasopharynx morph...	OMIM:269150
Lethal Kniest-Like Dysplasia	Platyspondyly, Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Abnormal cart...	ORPHA:2347
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, Dental crowding, Sandal gap, Short toe, Long philtrum, Short 5th metacarpal, Antevert...	OMIM:617877
Arthrogryposis, Distal, Type 3	Overlapping toe, Cutaneous finger syndactyly, Micrognathia, Talipes equinovarus, Short neck, Thor...	OMIM:114300
Mosaic Trisomy 1	Hand clenching, Toe syndactyly, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Broad toe, ...	ORPHA:1692
Spondyloepimetaphyseal Dysplasia, Irapa Type	Synostosis of carpal bones, Limitation of joint mobility, Genu valgum, Broad foot, Pes planus, Sh...	ORPHA:93351
Immunodeficiency 43	Radial bowing, Hypoplasia of the ulna, Lung abscess, Recurrent respiratory infections, Bronchiect...	OMIM:241600
Dysostosis, Stanescu Type	Carious teeth, Bowing of the long bones, Short neck, Increased bone mineral density, Hypoplasia o...	ORPHA:1798
Orofaciodigital Syndrome Vi	Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, High palate, Accessory oral frenulum...	OMIM:277170
Radio-Renal Syndrome	High, narrow palate, Depressed nasal bridge, Chylothorax, Abnormal form of the vertebral bodies, ...	ORPHA:3015
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Hypoplastic iliac wing, Micrognathia, Talipes equinovarus, Short neck, Abse...	OMIM:263650
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300554
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Micrognathia, Radioulnar synostosis, Talipes equinovarus, Spreng...	ORPHA:1988
Congenital Myopathy 4B, Autosomal Recessive	Respiratory insufficiency, Pes cavus, Distal lower limb muscle weakness, Pectus excavatum, High p...	OMIM:609284
Caudal Regression Syndrome	Abnormal pelvic girdle bone morphology, Pulmonary hypoplasia, Aplasia/Hypoplasia of the sacrum, J...	ORPHA:3027
Tibial Torsion, Bilateral Medial	Bowing of the legs, Scoliosis, Tibial torsion	OMIM:188800
Myopathy, Myofibrillar, 8	Dental malocclusion, Pes cavus, Micrognathia, Joint contracture of the 5th finger, Joint hypermob...	OMIM:617258
Hyperekplexia 4	Kyphoscoliosis, Distal arthrogryposis, Adducted thumb, Camptodactyly, Flexion contracture, Respir...	OMIM:618011
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Tibial bowing, Cortical thickening of long bone diaphyses, Increased bone mineral...	OMIM:166740
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Hip dislocation, Shallow acetabular fossae, Radial bowing, Ulnar bowing, Limited pronation/supina...	OMIM:605432
Thanatophoric Dysplasia Type 1	Platyspondyly, Hypoplastic ilia, Depressed nasal bridge, Narrow chest, Micromelia, Respiratory in...	ORPHA:1860
Braddock Syndrome	Neonatal respiratory distress, Preaxial hand polydactyly, Micrognathia, Missing ribs, Short neck,...	ORPHA:52047
Cranioectodermal Dysplasia 4	Short distal phalanx of finger, Broad distal phalanx of finger, Recurrent pneumonia, Narrow chest...	OMIM:614378
Metaphyseal Anadysplasia	Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho...	ORPHA:1040
Autosomal Dominant Spondylocostal Dysostosis	Wide nasal bridge, Short thorax, Posterior rib fusion, Anteverted nares, Vertebral segmentation d...	ORPHA:1797
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Pectus carinatum, Long philtrum, Micrognathia, Malar flattening, Abnormal metacarpal morphology, ...	ORPHA:166100
Coffin-Siris Syndrome 1	Aplasia/Hypoplasia of the patella, High palate, Dislocated radial head, Short distal phalanx of t...	OMIM:135900
Acrocraniofacial Dysostosis	Broad thumb, Genu valgum, Micrognathia, Choanal atresia, Ulnar deviation of finger, Short 1st met...	ORPHA:949
Holzgreve Syndrome	Aplasia/Hypoplasia of the tongue, Joint stiffness, Abnormal morphology of ulna, Hand polydactyly,...	ORPHA:2167
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormal ilium morphology, Genu valgum, Cleft soft palate, Micrognathia, Metaphyseal dysplasia, A...	ORPHA:93316
Rhyns Syndrome	Osteopenia, Radial bowing, Brachydactyly, Short long bone, Osteoporosis, Short femoral neck	OMIM:602152
Grant Syndrome	Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Depressed nasal bridge,...	ORPHA:2097
Severe Congenital Nemaline Myopathy	Thin ribs, Abnormal thorax morphology, Adducted thumb, Multiple prenatal fractures, Flexion contr...	ORPHA:171430
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Thoracic hypoplasia, Lumbar hyperlordosis, Limited elbow extension, Limb undergrowth, Pectus exca...	ORPHA:156728
Acrodysostosis	Open bite, Open mouth, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphol...	ORPHA:950
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Narrow mouth, Patent ductus arteriosus, Cone-shaped epiphysis, Short toe, Brachydac...	OMIM:618659
Chromosome 13Q33-Q34 Deletion Syndrome	Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Talipes equinovarus, Small thenar...	OMIM:619148
Oculofaciocardiodental Syndrome	Tooth malposition, Genu valgum, Radioulnar synostosis, Patent ductus arteriosus, Submucous cleft ...	ORPHA:2712
Craniodiaphyseal Dysplasia	Wide nasal bridge, Depressed nasal bridge, Craniofacial hyperostosis, Diaphyseal undertubulation,...	ORPHA:1513
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Lower limb asymmetry, Delayed eruption of ...	ORPHA:289176
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Thanatophoric Dysplasia Type 2	Platyspondyly, Depressed nasal bridge, Narrow chest, Limitation of joint mobility, Micromelia, Re...	ORPHA:93274
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Depressed nasal bridge, Pulmonary hypoplasia, Narrow chest, Lateral clavicle hook, Preaxial polyd...	OMIM:615503
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Achondrogenesis	Narrow chest, Micromelia, Long philtrum, Abnormal enchondral ossification, Anteverted nares, Micr...	ORPHA:932
Kniest Dysplasia	Delayed epiphyseal ossification, Enlarged metaphyses, Hypoplasia of the odontoid process, Bell-sh...	ORPHA:485
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Joint hypermobility, Everted lower lip vermilion, Convex na...	ORPHA:1695
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Limited pronation/supination of forearm, Radial bowing, Madelung deformity	DECIPHER:58
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Small hand, Coronal craniosynostosis, Natal tooth, Den...	OMIM:145420
Brachytelephalangic Chondrodysplasia Punctata	Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Stippling of the epiph...	ORPHA:79345
Chitayat Syndrome	Depressed nasal bridge, Tracheomalacia, Anteverted nares, Short columella, Hallux valgus, Brachyd...	OMIM:617180
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Postaxial polysyndactyly of foot, Polysyndactyly of hallux, Pectus carinatum, Preaxial hand polyd...	OMIM:263520
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Legg-Calvé-Perthes Disease	Abnormality of the dentition, Cartilage destruction	ORPHA:2380
Pseudoachondroplasia	Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo...	ORPHA:750
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Carious teeth, Genu valgum, Micrognathia, Hip contracture, Pes planus, Flattened epiphysis, High ...	OMIM:618363
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Depressed nasal bridge, Pulmonary cyst, Wide anterior fontanel, Anteverted nares, Micrognathia, P...	OMIM:618272
Dysspondyloenchondromatosis	Platyspondyly, Anisospondyly, Lower limb asymmetry, Multiple enchondromatosis, Genu valgum, Metap...	ORPHA:85198
Craniodiaphyseal Dysplasia, Autosomal Dominant	Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Craniofacial hyperostosis, Cran...	OMIM:122860
Myopathic Ehlers-Danlos Syndrome	Joint contracture of the hand, Micrognathia, Talipes equinovarus, Pes planus, Patellar subluxatio...	ORPHA:536516
Diastrophic Dysplasia	Ulnar deviation of finger, Cervical kyphosis, Hypoplastic cervical vertebrae, Patellar dislocatio...	OMIM:222600
Pyle Disease	Platyspondyly, Mandibular prognathia, Carious teeth, Delayed eruption of teeth, Absent paranasal ...	OMIM:265900
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Abnormal hip bone morphology, Micrognat...	ORPHA:2522
Spondylometaphyseal Dysplasia, Axial	Platyspondyly, Recurrent pneumonia, Rhizomelia, Narrow chest, Thoracic hypoplasia, Proximal femor...	OMIM:602271
Mucopolysaccharidosis Type 4	Carious teeth, Genu valgum, Bowing of the long bones, Short neck, Pectus carinatum, Abnormal meta...	ORPHA:582
Mucopolysaccharidosis, Type Ivb	Constricted iliac wing, Hypoplasia of the odontoid process, Carious teeth, Genu valgum, Bilateral...	OMIM:253010
Ollier Disease	Platyspondyly, Micromelia, Abnormal cartilage morphology, Joint stiffness, Multiple enchondromato...	ORPHA:296
Hoxha-Aliu Syndrome	Abnormal vertebral morphology, Overlapping toe, Absent fifth metatarsal, Broad foot, Patellar dis...	OMIM:620662
Fetal Akinesia Deformation Sequence 4	Wide nasal bridge, Retrognathia, 11 pairs of ribs, Micrognathia, Prenatal death, Neonatal death, ...	OMIM:618393
Ulna Metaphyseal Dysplasia Syndrome	Depressed nasal ridge, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal f...	ORPHA:1837
Restrictive Dermopathy 1	Natal tooth, Increased anterioposterior diameter of thorax, Micrognathia, Narrow mouth, Neonatal ...	OMIM:275210
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Coarse metaphyseal trabecularization, Epiphyseal stippling, Bowing of the long bones, Genu varum,...	ORPHA:1952
Congenital Radioulnar Synostosis	Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ...	ORPHA:3269
Distal Triplication 15Q	Retrognathia, Abnormal sternum morphology, Flexion contracture, Micrognathia, Arachnodactyly, Pat...	ORPHA:314588
Chromosome 3Q29 Deletion Syndrome	Pectus carinatum, Prominent nasal bridge, Thin upper lip vermilion, Long fingers, Clinodactyly of...	OMIM:609425
Stickler Syndrome, Type I	Micrognathia, Arachnodactyly, Beaking of vertebral bodies, Pierre-Robin sequence, Abnormal femora...	OMIM:108300
Genitopatellar Syndrome	Hypoplastic ilia, Delayed eruption of teeth, Long philtrum, Prominent nose, Prominent nasal bridg...	ORPHA:85201
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Death in early adulthood, Open mouth, Pes planus, Everted lower lip ve...	ORPHA:192
Xp22.13P22.2 Duplication Syndrome	Flared nostrils, Small hand, Recurrent upper respiratory tract infections, Broad nasal tip, Mandi...	ORPHA:284180
Osteogenesis Imperfecta, Type Vii	Multiple prenatal fractures, Protrusio acetabuli, Osteopenia, Vertebral compression fracture, Rec...	OMIM:610682
Dyschondrosteosis-Nephritis Syndrome	Aplasia/Hypoplasia of the radius, Micromelia, Radial bowing, Ulnar bowing, Microdontia, Madelung ...	ORPHA:1765
Verloove Vanhorick-Brubakk Syndrome	Abnormal pelvic girdle bone morphology, Finger syndactyly, Abnormal form of the vertebral bodies,...	ORPHA:3429
Renpenning Syndrome	High, narrow palate, Broad columella, Macrodontia, Prominent nose, Joint stiffness, Narrow mouth,...	ORPHA:3242
Heart-Hand Syndrome Type 2	Asymmetry of the thorax, Abnormality of the dentition, Aplasia/Hypoplasia of the radius, Abnormal...	ORPHA:1350
Mucopolysaccharidosis, Type Vii	Hypoplasia of the odontoid process, Limitation of joint mobility, Genu valgum, Talipes equinovaru...	OMIM:253220
Nemaline Myopathy 8	Flexion contracture, Respiratory failure, Death in infancy	OMIM:615348
Congenital Myopathy 14	Elbow flexion contracture, Knee flexion contracture, Hip contracture, Death in infancy, Respirato...	OMIM:618414
Eiken Syndrome	Abnormal fingertip morphology, Epiphyseal dysplasia, Delayed epiphyseal ossification, Limited elb...	ORPHA:79106
Czeizel-Losonci Syndrome	1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Micrognathia, Single transverse palmar cre...	ORPHA:2437
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Retrognathia, Anteverted nares, Gingival overgrowth, Median cleft palate, ...	ORPHA:1832
Osteogenesis Imperfecta, Type Xxi	Platyspondyly, Bowing of the arm, Bell-shaped thorax, Barrel-shaped chest, Joint hypermobility, P...	OMIM:619131
Mosaic Trisomy 14	Wide nasal bridge, Narrow chest, Lower limb asymmetry, Camptodactyly of finger, Anteverted nares,...	ORPHA:1703
Lethal Congenital Contracture Syndrome 1	Micrognathia, Abnormal thorax morphology, Neonatal death, Widening of cervical spinal canal, Arth...	OMIM:253310
Pallister-Hall Syndrome	Broad thumb, Toe syndactyly, Radial bowing, Natal tooth, Polydactyly affecting the 4th finger, Ov...	ORPHA:672
Mesomelia-Synostoses Syndrome	Abnormal vertebral morphology, Metacarpal synostosis, Tarsometatarsal synostosis, Mesomelia, Micr...	OMIM:600383
Arthrogryposis Multiplex Congenita 6	Death in childhood, Death in infancy, Neonatal death, Adducted thumb, Arthrogryposis multiplex co...	OMIM:619334
Autosomal Recessive Spondylocostal Dysostosis	Depressed nasal bridge, Finger syndactyly, Abnormal form of the vertebral bodies, Camptodactyly o...	ORPHA:2311
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri...	OMIM:300009
Peroxisome Biogenesis Disorder 1A (Zellweger)	Micrognathia, Bell-shaped thorax, Protruding tongue, Death in childhood, Talipes equinovarus, Hig...	OMIM:214100
Distal Duplication 18Q	Progressive intervertebral space narrowing, Choanal atresia, Carious teeth, Deviation of finger, ...	ORPHA:1716
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Wide nasal bridge, Depressed nasal bridge, Pectus carinatum, Clinodactyly, ...	OMIM:607131
Osteoarthritis With Mild Chondrodysplasia	Platyspondyly, Hip osteoarthritis, Schmorl's node, Joint stiffness, Knee osteoarthritis, Beaking ...	OMIM:604864
Caffey Disease	Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob...	OMIM:114000
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal pelvic girdle bone morphology, Abnormal form of the vertebral...	ORPHA:1802
Congenital Muscular Dystrophy With Intellectual Disability	Abnormality of the tongue muscle, Respiratory insufficiency, Decreased cervical spine mobility, M...	ORPHA:370968
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal lung lobation, T...	ORPHA:1120
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Micrognathia, Pes planus, Diaphysea...	OMIM:620663
Gnathodiaphyseal Dysplasia	Osteopenia, Increased susceptibility to fractures, Diaphyseal cortical sclerosis, Osteomyelitis	OMIM:166260
Microcephalic Primordial Dwarfism, Toriello Type	Abnormal epiphysis morphology, Downturned corners of mouth, Enamel hypoplasia, Brachydactyly, Abn...	ORPHA:2643
Meckel Syndrome 14	Pulmonary hypoplasia, Postaxial foot polydactyly, Microretrognathia, Retrognathia, Cardiorespirat...	OMIM:619879
Mosaic Variegated Aneuploidy Syndrome 1	Depressed nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Malar flattening, Triangul...	OMIM:257300
Oncogenic Osteomalacia	Abnormal vertebral morphology, Abnormal foot morphology, Pathologic fracture, Abnormality of the ...	ORPHA:352540
Lujan-Fryns Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger...	ORPHA:776
Prune Belly Syndrome	Congenital hip dislocation, Volvulus, Intestinal malrotation, Vertebral segmentation defect, Tali...	ORPHA:2970
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Abnormal vertebral morphology, Abnormality of the vertebral column, Short humerus, Neonatal death...	OMIM:314390
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormal cortical bone morphology, Limb undergrowth, Abnormal limb bone morphology, Aplasia/Hypop...	ORPHA:2204
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail...	OMIM:616867
Congenital Syphilis	Pneumonia, Periostitis, Hyperplasia of the maxilla, Mulberry molar, Tibial bowing, Synovitis, Hig...	ORPHA:499009
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Congenital hip dislocation, Hand clenching, Kyphosis, Arthrogryposis multiplex congenita, Overlap...	OMIM:618291
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Intestinal malrotation, Malar flattening, Short sternum,...	OMIM:222448
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Finger syndactyly, Micrognathia, Perineal fistula, Rectal atresi...	ORPHA:2753
Congenital Myopathy 1B, Autosomal Recessive	Respiratory insufficiency, Joint hypermobility, High palate, Recurrent respiratory infections, Sc...	OMIM:255320
Fibrochondrogenesis 1	Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Nar...	OMIM:228520
Fetal Akinesia Deformation Sequence 1	Thin ribs, Micrognathia, Narrow mouth, Hip contracture, Talipes equinovarus, Short neck, Elbow an...	OMIM:208150
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Hypoplastic iliac wing, Beaking of vertebral bodies, Pes planus, Broad toe, Flat acetabular roof,...	OMIM:609616
Meier-Gorlin Syndrome 1	Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact...	OMIM:224690
Autosomal Recessive Robinow Syndrome	Broad thumb, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Elbow dislocation, Op...	ORPHA:1507
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Arachnodactyly, Pes planus, Long nose, Narrow maxilla, High palate, Anal atresia, ...	OMIM:617602
Osteoglophonic Dysplasia	Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Short neck, Broad phalan...	OMIM:166250
Blount Disease, Adolescent	Genu varum, Bowing of the legs	OMIM:259200
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Vertebral segmentation de...	ORPHA:1570
Pseudoachondroplasia	Delayed epiphyseal ossification, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Ra...	OMIM:177170
ERI1-related disease	Velopharyngeal insufficiency, Micrognathia, Pes planus, Patellar dislocation, Finger joint hyperm...	OMIM:608739
Spinocerebellar Ataxia, Autosomal Recessive 31	Retrognathia, Pes cavus, Gingival overgrowth, Death in childhood, Smooth philtrum, Lumbar kyphosc...	OMIM:619422
Recombinant Chromosome 8 Syndrome	Depressed nasal bridge, Abnormality of the dentition, Joint contracture of the hand, Downturned c...	OMIM:179613
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Respiratory failure, Limited knee flexion/extension, Limited elbow fle...	ORPHA:266
Fountain Syndrome	Short distal phalanx of finger, Craniofacial hyperostosis, Coarse metaphyseal trabecularization, ...	ORPHA:3219
Distal Duplication 15Q	Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Joint stiffness, Prominent n...	ORPHA:1707
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Platyspondyly, Irregular acetabular roof, Metaphyseal dysplasia, Reduced bone mineral density, Ge...	OMIM:617974
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Thoracic dysplasia, Respiratory insufficiency, Bell-shaped thorax, Horizontal ribs,...	OMIM:615633
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Epiphyseal dysplasia, Carpal synostosis, Dysplasia of the femoral head, Bowing of the long bones,...	OMIM:615349
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Depressed nasal ridge, Sandal gap, Respiratory insufficiency, Micrognathia, Narrow mouth, Aplasia...	ORPHA:1046
Cleft Palate-Large Ears-Small Head Syndrome	Short distal phalanx of finger, Ulnar deviation of finger, Micrognathia, Gingival overgrowth, Pec...	ORPHA:2013
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Platyspondyly, Abnormal ilium morphology, Abnormal vertebral morphology, Bilateral coxa valga, Re...	ORPHA:163665
Hallermann-Streiff Syndrome	Thin ribs, Natal tooth, Micrognathia, Narrow mouth, Everted lower lip vermilion, High palate, Hig...	OMIM:234100
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Short 5th finger, Short distal phalanx of finger, Triangular shaped distal phalanges of the hand,...	ORPHA:73230
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal...	OMIM:609945
Coffin-Siris Syndrome 6	High, narrow palate, Depressed nasal bridge, Broad nasal tip, Clinodactyly, Retrognathia, Microgn...	OMIM:617808
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Thin ribs, Hypoplasia of the odontoid process, Broad foot, Short neck, Anterior rib cupping, Flat...	OMIM:300232
Developmental Delay With Variable Neurologic And Brain Abnormalities	Widely spaced teeth, Anteverted nares, Micrognathia, Knee flexion contracture, Down-sloping shoul...	OMIM:619694
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Downturned corners of mouth, Bilateral single transverse palmar creases, Malar flattening, Cubitu...	ORPHA:85280
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Platyspondyly, Pectus carinatum, Hypoplasia of the odontoid process, Scoliosis, Clinodactyly, Gen...	OMIM:184250
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Mucolipidosis Ii Alpha/Beta	Bullet-shaped phalanges of the hand, Atlantoaxial dislocation, Hypoplastic scapulae, Hypoplasia o...	OMIM:252500
Cenani-Lenz Syndactyly Syndrome	Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Hypodontia, Enamel hypoplasi...	OMIM:212780
3M Syndrome	Thin ribs, Short neck, Everted lower lip vermilion, Hypoplastic ischia, Abnormality of the elbow,...	ORPHA:2616
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Joint hypermobility, Pes valgus, High palate, Pectus excavatum, Recu...	ORPHA:486815
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Platyspondyly, Thoracolumbar kyphosis, Broad nasal tip, Depressed nasal bri...	OMIM:617425
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Pulmonary hypoplasia	OMIM:615228
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Joint hypermobility, Abnormal rib morpholo...	OMIM:602196
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Recombinant 8 Syndrome	Micrognathia, Patellar aplasia, Bilateral single transverse palmar creases, Patent ductus arterio...	ORPHA:96167
Craniometadiaphyseal Dysplasia	Wide anterior fontanel, Mandibular prognathia, Carious teeth, Natal tooth, Dental crowding, Flare...	OMIM:269300
Spondylocostal Dysostosis 3, Autosomal Recessive	Slender finger, Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal j...	OMIM:609813
Orofaciodigital Syndrome Ii	Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop...	OMIM:252100
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Lumbar hemivertebrae, Thin ribs, Thin metacarpal cortices, Thin metatarsal cortices, Small hypoth...	ORPHA:2463
Schneckenbecken Dysplasia	Hypoplastic scapulae, Narrow vertebral interpedicular distance, Short neck, Anterior rib cupping,...	OMIM:269250
Meier-Gorlin Syndrome 7	Narrow mouth, Aplasia/Hypoplasia of the patella, Anal atresia, High palate, Dislocated radial hea...	OMIM:617063
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Impaired Intellectual Development, And Recurrent Inflammatory Episodes	Wide nasal bridge, Pectus carinatum, Small hand, Clinodactyly, Long philtrum, Thin upper lip verm...	OMIM:614684
Typical Nemaline Myopathy	Narrow chest, Kyphosis, Arthrogryposis multiplex congenita, Respiratory insufficiency, Flexion co...	ORPHA:171436
Upper Limb Mesomelic Dysplasia	Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna	ORPHA:2497
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Clinodactyly, Micrognathia, Narrow mouth, Short neck, Short nose, Wide nose, Slender finger, Down...	ORPHA:391408
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Narrow mouth, Broad first metatarsal, Talipes equinovarus, Sh...	OMIM:251450
Saul-Wilson Syndrome	Hypoplasia of the odontoid process, Micrognathia, Talipes equinovarus, Short metacarpal, Cone-sha...	OMIM:618150
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Clinodactyly, Cleft soft palate, Micrognathia, Short nose, Oligodontia, Thin upper l...	OMIM:616331
Usmani-Riazuddin Syndrome, Autosomal Recessive	Lumbar scoliosis, Pectus excavatum, High palate, Joint hypermobility	OMIM:619548
Camptodactyly Syndrome, Guadalajara Type 2	Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Cuboid-shaped vertebral bodies, Tali...	ORPHA:1326
Mosaic Trisomy 16	Craniofacial asymmetry, Short forearm, Pulmonary hypoplasia, Meckel diverticulum, Short thumb, Cl...	ORPHA:1708
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Wide nasal bridge, Depressed nasal ridge, Underdeveloped nasal alae, Cervical ribs, Intestinal ma...	ORPHA:77300
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Neonatal respiratory distress, Patellar hypoplasia, Microgn...	ORPHA:2257
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Genu valgum, Micrognathia, Short neck, Pes planus, Splayed t...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Genu valgum, Micrognathia, Short neck, Pes planus, Splayed t...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Genu valgum, Micrognathia, Short neck, Pes planus, Splayed t...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Genu valgum, Micrognathia, Short neck, Pes planus, Splayed t...	ORPHA:881
Fibrochondrogenesis 2	Platyspondyly, Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Micr...	OMIM:614524
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia	OMIM:614096
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Small hand, Joint contracture of the hand, Hypoplastic iliac wing, Cutaneous finger syndactyly, N...	OMIM:235510
Fryns Syndrome	Wide nasal bridge, Short distal phalanx of finger, Narrow chest, Non-midline cleft of the upper l...	ORPHA:2059
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Abnormal sternum morphology, Abnormal tibia morphology, Talipes...	ORPHA:1335
Aarskog-Scott Syndrome	Cervical spine hypermobility, Hypoplasia of the odontoid process, Clinodactyly, Broad foot, Short...	OMIM:305400
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tu...	ORPHA:85184
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Limitation of joint mobility, Camptodactyly of finger, Abnormal pleura morphology, Micrognathia, ...	ORPHA:2570
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Pectus carinatum, Toe syndactyly, Abnormal epiphysis morphology, A...	ORPHA:3082
Cataract-Hypertrichosis-Intellectual Disability Syndrome	Depressed nasal bridge, Pectus excavatum, Abnormal palate morphology, Microdontia	ORPHA:1375
Shprintzen-Goldberg Craniosynostosis Syndrome	Thin ribs, Joint contracture of the hand, Genu valgum, Micrognathia, Arachnodactyly, Talipes equi...	OMIM:182212
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Narrow palate, Lower limb asymmetry, Abnormal lung lobation, Tooth agenesis, Abnormality of the w...	ORPHA:2063
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Abnormal form of the vertebral ...	ORPHA:2180
Mesomelic Dysplasia, Kantaputra Type	Tarsal synostosis, Radial bowing, Mesomelia, Carpal synostosis	OMIM:156232
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Choanal atresia, Slender long bone, Clinodactyly, Recurrent respiratory infections, Lumbar hyperl...	OMIM:613385
Pontocerebellar Hypoplasia, Type 4	Congenital contracture, Respiratory failure, Death in infancy	OMIM:225753
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Micrognathia, High palate, Patent ductus arteriosus, Short nose, Bulbous nose, Oligodontia, Thin ...	OMIM:617061
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum, Scoliosis	OMIM:618155
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia, Short thorax, Arthrogryposis multiplex congenita, Pulmon...	OMIM:601809
Schwartz-Jampel Syndrome	Arthrogryposis multiplex congenita, Elbow dislocation, Pursed lips, Genu valgum, Narrow mouth, Mi...	ORPHA:800
Schwartz-Jampel Syndrome, Type 1	Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contracture, Bowing o...	OMIM:255800
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Long hallux, Narrow palm, Talipes equinovarus, Short neck, Hyperextensibility of the finger joint...	OMIM:309583
Mesomelic Dysplasia, Savarirayan Type	Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten...	OMIM:605274
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Abnormal lung lobation, Aplasia/Hypoplasia involving the p...	ORPHA:3301
Macs Syndrome	Wide nasal bridge, Eclabion, Long philtrum, Recurrent aphthous stomatitis, Gingival overgrowth, M...	OMIM:613075
Neu-Laxova Syndrome	Osteomalacia, Micrognathia, Broad foot, Everted lower lip vermilion, Large hands, Depressed nasal...	ORPHA:2671
Fibrochondrogenesis	Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Abnormal form of the vertebral bodies...	ORPHA:2021
Osteopathia Striata-Cranial Sclerosis Syndrome	Wide nasal bridge, High, narrow palate, Bifid uvula, High iliac wing, Coarse metaphyseal trabecul...	ORPHA:2780
Muscular Dystrophy, Congenital, 1B	Spinal rigidity, Respiratory failure, Achilles tendon contracture	OMIM:604801
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, ...	OMIM:271650
Short Stature, Brussels Type	Delayed epiphyseal ossification, Calcification of cartilage, Narrow chest, Microretrognathia	ORPHA:2867
Renal Tubular Dysgenesis	Joint hypermobility, Bilateral single transverse palmar creases, Pulmonary hypoplasia	ORPHA:3033
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Thick lower lip vermilion, Anteverted nares, Abnormal palate morphology, Deep phil...	ORPHA:2701
Congenital Myopathy 22A, Classic	Wide nasal bridge, Dental crowding, Respiratory insufficiency, Micrognathia, Knee contracture, Op...	OMIM:620351
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Retrognathia, Finger clinodactyly, Prominent nose, Supernumerary ribs, Patellar subluxation, Oste...	ORPHA:2958
Lethal Congenital Contracture Syndrome 9	Depressed nasal bridge, Joint contracture of the hand, Cardiorespiratory arrest, Congenital contr...	OMIM:616503
Chondrodysplasia, Blomstrand Type	Abnormal vertebral morphology, Depressed nasal bridge, Narrow chest, Micromelia, Flared metaphysi...	OMIM:215045
Juberg-Hayward Syndrome	Abnormal vertebral morphology, Toe syndactyly, Short thumb, Anteriorly placed anus, Abnormality o...	ORPHA:2319
Distal Monosomy 7Q36	Bulbous nose, Wide mouth, Micrognathia, Bilateral single transverse palmar creases, Short neck, P...	ORPHA:1636
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Global Developmental Delay With Or Without Impaired Intellectual Development	Bulbous nose, Oligodontia, Thin upper lip vermilion, Pectus excavatum, Pulmonary sequestration, P...	OMIM:618330
Orofaciodigital Syndrome Type 10	Short tibia, Fibular aplasia, Cleft soft palate, Micrognathia, Short neck, Tarsal synostosis, Mes...	ORPHA:2756
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Short distal phalanx of finger, Recurrent upper respiratory tract infections, Hypoplasia of the m...	OMIM:300534
Autosomal Recessive Amelia	Micrognathia, Acromelia of the lower limbs, Amelia, Orofacial cleft, Aplasia/Hypoplasia of the lu...	ORPHA:1027
Poland Syndrome	Small hand, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the thumb...	ORPHA:2911
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus, Pulmonary hypoplasia	OMIM:618174
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Thick lower lip vermilion, Th...	ORPHA:583
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:619003
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Micrognathia, Short neck, Abnormal bone ossification, Flattened epiphysis, High palate, Flat acet...	ORPHA:163649
Becker Nevus Syndrome	Pectus carinatum, Lower limb asymmetry, Micromelia, Abnormal tibia morphology, Rib fusion, Supern...	ORPHA:64755
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Premature osteoarthritis, Micrognathia, Beaking of vertebral bodies, Pierre...	OMIM:215150
Congenital Disorder Of Glycosylation, Type Iia	Open mouth, Protruding tongue, Short neck, Pes planus, Everted lower lip vermilion, Thoracolumbar...	OMIM:212066
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Interstitial emphysema, Kyphosis, Overlapping fingers, Micro...	OMIM:619708
Neuropathy, Congenital Hypomyelinating, 3	Hand clenching, Narrow palate, Arthrogryposis multiplex congenita, Retrognathia, Abnormal foot mo...	OMIM:618186
Hypophosphatasia, Infantile	Platyspondyly, Unossified vertebral bodies, Metaphyseal cupping, Abnormality of the dentition, Ra...	OMIM:241500
Cole-Carpenter Syndrome 2	Platyspondyly, Dentinogenesis imperfecta, Thin ribs, Microretrognathia, Lambdoidal craniosynostos...	OMIM:616294
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalgus, Micrognathia, Short neck, ...	ORPHA:818
Cerebrocostomandibular Syndrome	Carious teeth, Cleft soft palate, Micrognathia, Bell-shaped thorax, Short hard palate, High palat...	OMIM:117650
Immunodeficiency 95	Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Respiratory...	OMIM:619773
Chromosome 2P16.1-P15 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Recurrent upper respiratory tract infections, High, na...	OMIM:612513
Osteopathia Striata With Cranial Sclerosis	Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnodactyly, Talipe...	OMIM:300373
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Clinodactyly, Retrognathia, Widely spaced teeth, Pes cavus, Arachnodactyly, Syndactyly, Pectus ex...	OMIM:619092
Osteoporosis-Pseudoglioma Syndrome	Platyspondyly, Osteopenia, Pathologic fracture, Recurrent fractures, Increased susceptibility to ...	OMIM:259770
Rhizomelic Chondrodysplasia Punctata, Type 2	Wide nasal bridge, Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Rhizomelia, Os...	OMIM:222765
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Overlapping toe, Micrognathia, Talipes equinovarus, Short neck, Beaking of vertebral bodies, Pes ...	OMIM:213980
Trisomy 13	High, narrow palate, Abnormality of the dentition, Abnormal pelvic girdle bone morphology, Narrow...	ORPHA:3378
Fryns Syndrome	Thin ribs, Joint contracture of the hand, Short neck, Anal atresia, Duodenal atresia, Prominent f...	OMIM:229850
Mcdonough Syndrome	Mandibular prognathia, Dental malocclusion, Underdeveloped nasal alae, Open bite, Prominent nose,...	ORPHA:2471
Alg9-Cdg	Micrognathia, Talipes equinovarus, Short neck, Broad ischia, Abnormal bone ossification, Short no...	ORPHA:79328
Arthrogryposis, Distal, Type 5	Clinodactyly, Arachnodactyly, Limited wrist extension, Decreased palmar creases, Distal arthrogry...	OMIM:108145
Qazi-Markouizos Syndrome	High, narrow palate, Prominent nasal bridge, Open mouth, Broad philtrum, Pectus excavatum, Hypopl...	ORPHA:3010
Waardenburg Syndrome Type 3	Synostosis of carpal bones, Tracheomalacia, Atelectasis, Camptodactyly of finger, Cutaneous finge...	ORPHA:896
Multiple Pterygium-Malignant Hyperthermia Syndrome	Finger syndactyly, Narrow mouth, Arachnodactyly, Talipes equinovarus, Ulnar deviation of finger, ...	ORPHA:2215
Isolated Klippel-Feil Syndrome	Abnormality of the vertebral column, Abnormal shoulder morphology, Cervical C2/C3 vertebral fusio...

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us