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 (1419 diseases)

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

Disease	Similarity of phenotypes	Matching phenotypes	Source
Diffuse Cutaneous Systemic Sclerosis		Malabsorption, Carious teeth, Dyspnea, Flexion contracture, Xerostomia, Osteolysis, Arthritis, Na...	ORPHA:220393
Limited Cutaneous Systemic Sclerosis		Foot joint contracture, Narrow foramen obturatorium, Pulmonary fibrosis, Pulmonary arterial hyper...	ORPHA:220402

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	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in...	OMIM:256050
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing...	OMIM:151210
Achondroplasia	Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora...	OMIM:100800
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle...	ORPHA:2631
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Abnormally ossified vertebrae, Radial bowing, Bowing of the long bones, Intestinal malrotation, M...	ORPHA:3035
Odontochondrodysplasia 1	Respiratory distress, Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow...	OMIM:184260
Kniest Dysplasia	Respiratory distress, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Abno...	OMIM:156550
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Ulnar bowing, Flared me...	OMIM:602111
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Atelosteogenesis, Type I	Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonat...	OMIM:108720
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, High, narrow pala...	OMIM:600920
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Joint laxity, Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial inst...	OMIM:600561
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ...	OMIM:224300
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Stuve-Wiedemann Syndrome 1	Apnea, Single transverse palmar crease, Short neck, Micrognathia, Knee flexion contracture, Femor...	OMIM:601559
Atelosteogenesis, Type Iii	Cervical kyphosis, Short neck, Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Knee dislo...	OMIM:108721
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Cupped ribs, Metaphyseal w...	OMIM:608940
Osteogenesis Imperfecta, Type X	Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint...	OMIM:613848
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ...	OMIM:300717
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pe...	OMIM:223800
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Osteoporosis	Osteoporosis	OMIM:166710
Lethal Congenital Contracture Syndrome 3	Neonatal death, Arthrogryposis multiplex congenita, Multiple joint contractures, Respiratory insu...	OMIM:611369
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Prominent nose, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac w...	OMIM:210720
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Short metacarpal,...	OMIM:211350
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Missing rib...	OMIM:617866
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Elbow disl...	OMIM:171480
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/Hypoplasia of the fibula, Aplasia/hypopla...	ORPHA:2141
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Cer...	OMIM:114290
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Femoral retroversion, Micrognathia, Kn...	OMIM:616531
Otospondylomegaepiphyseal Dysplasia	Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abnormal...	ORPHA:1427
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Dental crowding, Ankle flexion c...	OMIM:617468
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Depressed nasal bridge, Camptodactyly of finger, Microme...	ORPHA:2635
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Protrusio acetabuli, Multiple prenatal frac...	OMIM:259420
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han...	OMIM:200600
Catel-Manzke Syndrome	Camptodactyly of finger, Joint stiffness, Pectus excavatum, Metatarsus valgus, Micrognathia, Radi...	ORPHA:1388
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Beaded ribs, Multiple prenatal fractures, Short neck, Micrognathia, Flexion contractu...	OMIM:616897
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Multiple prenatal fractu...	OMIM:166210
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine...	OMIM:215140
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnormal rib morphol...	ORPHA:1486
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Irregular...	OMIM:143095
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ...	ORPHA:3268
Osteogenesis Imperfecta, Type Viii	Osteopenia, Multiple prenatal fractures, Femoral bowing, Tibial bowing, Decreased skull ossificat...	OMIM:610915
Campomelic Dysplasia	Short neck, Micrognathia, Femoral bowing, Tibial bowing, Narrow chest, Hypoplastic inferior ilia,...	ORPHA:140
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Short thorax,...	ORPHA:85166
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Short ...	OMIM:187600
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, B...	ORPHA:56304
Dyssegmental Dysplasia, Silverman-Handmaker Type	Micromelia, Bowing of the legs, Short neck, Micrognathia, Flexion contracture, Narrow chest, Anis...	ORPHA:1865
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow...	OMIM:277440
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Short palm,...	OMIM:268310
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Thin upper lip vermilion, Death in infancy, Anteverted nares, Micrognathi...	OMIM:619135
Bent Bone Dysplasia Syndrome 2	Osteopenia, Short neck, Femoral bowing, Hypoplastic iliac wing, Short tibia, Depressed nasal brid...	OMIM:620076
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, ...	OMIM:271640
Diaphanospondylodysostosis	Respiratory distress, Absent in utero ossification of vertebral bodies, Short neck, Micrognathia,...	OMIM:608022
Melorheostosis, Isolated	Hyperostosis, Increased bone mineral density	OMIM:155950
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Pectus excavatum, Delayed epiphyseal ossification, Triangular mouth, Wide nasal bridge, Genu valg...	ORPHA:166024
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal wideni...	OMIM:602535
Diastrophic Dysplasia	Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Micrognathia, Symphalangis...	ORPHA:628
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow...	OMIM:264700
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De...	OMIM:112350
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:600081
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Short neck, Micrognathia, Abnormal lung lobation, Hemivertebrae, Or...	ORPHA:958
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Femora...	OMIM:304120
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphos...	ORPHA:2655
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Broad nasal tip...	ORPHA:166016
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Tarp Syndrome	Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Anteverted...	ORPHA:2886
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowing, High palate...	ORPHA:93315
Melnick-Needles Syndrome	Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, ...	OMIM:309350
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Short neck, M...	ORPHA:96334
Cartilage-Hair Hypoplasia	Micromelia, Short neck, Metaphyseal chondrodysplasia, Depressed nasal ridge, Abnormal form of the...	ORPHA:175
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Femoral bo...	ORPHA:2563
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ...	OMIM:618019
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Median cleft lip, Depressed nasal bridge, Micromelia, Micrognat...	OMIM:241800
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should...	OMIM:274000
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Depressed nasal bridge, Choanal atresia, Wide anterior fontan...	OMIM:207410
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Beaking of vertebral bodies, Mandibular prog...	OMIM:231070
Gordon Syndrome	Finger syndactyly, Camptodactyly of finger, Talipes, Pectus excavatum, Limitation of joint mobili...	ORPHA:376
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Abnormal lung morphology, Cleft palate, Upper limb phocom...	ORPHA:294975
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han...	OMIM:164900
Ulbright-Hodes Syndrome	Respiratory distress, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phoco...	ORPHA:3404
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger...	OMIM:313420
Shox-Related Short Stature	Short neck, Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm und...	ORPHA:314795
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Flexion contracture, Elbow flexion contracture, Retrognathia, Distal arthrogry...	OMIM:617194
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum...	OMIM:600785
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Anisospondyly, Micrognathia, Wide nasal bridge, Respiratory...	OMIM:224410
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Short neck, Micrognathia, Underdeveloped nasal alae, Metaphyseal wid...	OMIM:263210
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Short neck, Micrognathia, Depressed nasal ridge, Pectus carinatum...	OMIM:271665
Anauxetic Dysplasia 3	Femoral bowing, Oligodontia, Narrow chest, Trident hand, Short metacarpal, Depressed nasal bridge...	OMIM:618853
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp...	OMIM:206920
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:241530
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Missing ribs, Micromelia, Absent thumb, Absent radius, Humeroradial ...	OMIM:251230
Blomstrand Lethal Chondrodysplasia	Micrognathia, Narrow chest, Distal shortening of limbs, Increased bone mineral density, Short met...	ORPHA:50945
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Metaphyseal widening...	ORPHA:536467
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow ches...	OMIM:616300
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Congenital Arthrogryposis With Anterior Horn Cell Disease	Single transverse palmar crease, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Respirat...	OMIM:611890
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Abnormal ossification involving the ...	ORPHA:1190
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Bulbous nose, Tongue...	OMIM:258850
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Micromelia, Postax...	OMIM:617895
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Arachnodactyly, Long palm, Abnormality of...	ORPHA:2759
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle...	ORPHA:2790
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Cleft upper lip, Micrognathia, Flexion contracture...	OMIM:312150
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Convex nasal ridge, Short neck, Micrognathia, Generalized joint laxi...	ORPHA:251028
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Joint laxity, Short me...	OMIM:602875
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Short neck...	OMIM:620369
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Smooth philtrum, Ulnar deviation of the hand, Proximal placement of thumb, Long nose, Bulbous nos...	OMIM:620113
Cornelia De Lange Syndrome 1	Single transverse palmar crease, Micromelia, Proximal placement of thumb, Short neck, High, narro...	OMIM:122470
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm...	ORPHA:1354
Tarp Syndrome	Anteverted nares, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pec...	OMIM:311900
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the kne...	OMIM:601812
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Marden-Walker Syndrome	Arachnodactyly, Anteverted nares, Short neck, Micrognathia, High, narrow palate, Narrow mouth, Py...	OMIM:248700
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog...	ORPHA:2878
Cutis Laxa, Autosomal Recessive, Type Iie	Joint laxity, Syndactyly, Brachydactyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Craniosyno...	OMIM:619451
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Osteomalacia, Irregular, rachitic-like meta...	ORPHA:289157
Kagami-Ogata Syndrome	Long clavicles, Anteverted nares, Depressed nasal bridge, Kyphoscoliosis, Coxa valga, Micrognathi...	OMIM:608149
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Micrognathia, Narrow palate, Fem...	OMIM:617022
Turnpenny-Fry Syndrome	Mandibular prognathia, Dental crowding, Pectus carinatum, Prominent interphalangeal joints, Downt...	OMIM:618371
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Ovoid vertebral bodies, Micro...	ORPHA:63446
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena...	OMIM:301014
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Depressed nasal bridge, Broad nas...	ORPHA:2804
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Depressed nasal...	OMIM:253290
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Tibial bowing, Ca...	ORPHA:1106
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Long thorax, Narrow greate...	OMIM:617925
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Anteverted nares, Upper limb undergrowth, Pulmonary hypoplasia, Thoracic hypoplasia	OMIM:613124
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Prominent nose, Short philtrum, Pulmonary artery atresia, Long toe, Exaggerated cupid's bow, Ante...	OMIM:618316
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Micromelia, Fused teeth, Thoracic dysplasia, Narrow chest, High palate, M...	OMIM:614091
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Raine Syndrome	Mandibular prognathia, Micromelia, Short neck, Micrognathia, High palate, Choanal stenosis, Micro...	OMIM:259775
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, N...	OMIM:269860
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Tonne-Kalscheuer Syndrome	Pes planus, Prominent nasal bridge, Convex nasal ridge, Micrognathia, Prominent nose, Velopharyng...	OMIM:300978
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Single transverse palmar crease, Narrow nasal ridge, Short n...	OMIM:236500
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Arachnodactyly, Joint stiffness, Abnormality of the dentition, ...	ORPHA:1548
Three M Syndrome 1	Mandibular prognathia, Short neck, Increased vertebral height, Clinodactyly of the 5th finger, Sp...	OMIM:273750
Opsismodysplasia	Recurrent respiratory infections, Abnormally ossified vertebrae, Depressed nasal bridge, Joint st...	ORPHA:2746
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Camptodactyly of finger, Pectus excavatum, Cleft palate, Respiratory insuff...	OMIM:614399
Scarf Syndrome	Craniosynostosis, Short neck, Wide nasal base, Abnormal form of the vertebral bodies, Pectus cari...	ORPHA:3134
Melnick-Needles Syndrome	Micrognathia, Narrow chest, Anisospondyly, Short thorax, Abnormal rib morphology, Cone-shaped epi...	ORPHA:2484
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ecto...	OMIM:135100
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Short t...	ORPHA:93298
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Depressed nasal bridge, Recur...	OMIM:613849
Orofaciodigital Syndrome Type 3	Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi...	ORPHA:2752
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Wide nose, Tapered finger, Pectus excavatum, Kyphosis, Pectus carinatum, Large hands, Oligodontia...	ORPHA:276630
Larsen-Like Syndrome, Lethal Type	Abnormal cartilage matrix, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death, Trach...	OMIM:245650
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, C...	OMIM:218600
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P...	OMIM:608728
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Momo Syndrome	Delayed eruption of teeth, Short neck, Thick lower lip vermilion, Dental malocclusion, Wide nasal...	OMIM:157980
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ...	ORPHA:392
Vacterl Association With Hydrocephalus	Absent thumb, Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Abnor...	OMIM:276950
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Pes planus, Hyperlordosis, Pectus excavatum, Kyphosis, Achille...	OMIM:615290
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Short neck, Metaphyseal widening, Pectus carina...	OMIM:615777
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans...	ORPHA:536471
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Narrow nasal bridge, Brachydactyly, Hyperlordosis, Pectus excavatum, Abnor...	ORPHA:2511
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Craniosynostosis...	ORPHA:1515
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening,...	OMIM:253000
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Short neck, Micrognathia, Flexion contracture, Talipes calcaneovalgu...	OMIM:265000
Glass Syndrome	Dental crowding, Anterior tibial bowing, Apnea, Conical tooth, Micrognathia, Long nose, Oligodont...	OMIM:612313
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft...	ORPHA:3104
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Eng-Strom Syndrome	Camptodactyly of finger, Pectus excavatum, Arthritis, Scoliosis, Brachydactyly	ORPHA:1937
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Achondrogenesis Type 1A	Multiple rib fractures, Anteverted nares, Recurrent fractures, Micromelia, Abnormal enchondral os...	ORPHA:93299
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Short hallux, Spinal rigidity, Limitation of joint mobility, Ectopic ossification ...	ORPHA:337
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Pontocerebellar Hypoplasia, Type 1C	Joint contracture, Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Overlapping toe, Anteverted nares, Short ...	ORPHA:3309
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Single transverse palmar crease, Micromelia, Finger joint hypermobility, Joint laxity, Microretro...	OMIM:618870
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Prominent nasal bridge, Abnormality of the dentition, Pectus excavatum, Carious teeth, Prominent ...	ORPHA:3270
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, Femoral bowin...	OMIM:276820
Scarf Syndrome	Barrel-shaped chest, Prominent nasal bridge, Short neck, Wide nasal bridge, Abnormal form of the ...	OMIM:312830
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Lumbar hyperlordosis, Rhizomelia, Depressed nasal bridge, Ky...	OMIM:616482
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Anteverted nares, Depressed nas...	OMIM:612530
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Short neck, Micrognathia, Abnormality of the ...	ORPHA:798
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Ab...	ORPHA:436
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Short neck, Spinal rigidity, Kyphosis, Micrognathia, Flexion contracture, Elbow flexion...	ORPHA:75840
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Depressed nasal ridge, Orofacial cleft, High palate, Clinodactyly o...	ORPHA:1520
Alg3-Cdg	Osteopenia, Abnormality of the nose, Metaphyseal chondrodysplasia, Abnormal limb bone morphology,...	ORPHA:79321
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite...	ORPHA:266
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Flexion contracture, Rhizo-meso-acromelic limb short...	OMIM:611717
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Osteoporosis, Juvenile	Osteoporosis	OMIM:259750
Autosomal Recessive Multiple Pterygium Syndrome	Finger syndactyly, Neonatal respiratory distress, Camptodactyly of finger, Micrognathia, Pectus e...	ORPHA:2990
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Microphthalmia, Syndromic 12	Intestinal malrotation, Micrognathia, Broad nasal tip, Wide nasal bridge, Cleft palate, Pulmonary...	OMIM:615524
Spinal Muscular Atrophy, Type I	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu...	OMIM:212720
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Abnormal form of the vertebral bodies, Pectus carinatum, Downturned corner...	ORPHA:1327
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Short neck, Rhizo-meso-acromelic limb shortening, Enlarged thorax...	ORPHA:163654
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Short neck, Hypoplasia of the maxilla, Orofacia...	ORPHA:915
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Abnormal lung lobation, Pectus carinatum, Vertebral segmentation defect, N...	OMIM:312870
Hyperekplexia 4	Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly, A...	OMIM:618011
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Fetal Akinesia Deformation Sequence	Intestinal hypoplasia, Multiple joint contractures, Depressed nasal bridge, Camptodactyly of fing...	ORPHA:994
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatum, Kyphosis, Dentin...	OMIM:259440
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Myopathy, Myofibrillar, 8	Pes planus, Scapular winging, Reduced vital capacity, Spinal rigidity, Pectus excavatum, Distal j...	OMIM:617258
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Overlapping toe, Tapered finger, Pectus excava...	OMIM:618975
Phocomelia, Schinzel Type	Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia morphology, Foot oligod...	ORPHA:2879
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Anteverted nares, Intestinal malrotation, Pulmonary hypoplasia, Clino...	OMIM:601163
Metaphyseal Dysplasia, Spahr Type	Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy...	OMIM:250400
Radio-Renal Syndrome	Respiratory distress, Depressed nasal bridge, Micromelia, Short neck, Micrognathia, High, narrow ...	ORPHA:3015
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, N...	OMIM:612651
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Prominent nose, Talipes equ...	ORPHA:453510
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Convex nasa...	ORPHA:666
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Broad nasal tip, Pectus excavatum, Wide nasal bridge, Thin vermilion border, Everted lower lip ve...	ORPHA:73273
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, Knee flexi...	OMIM:114300
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Immunodeficiency 43	Recurrent respiratory infections, Hypoplasia of the ulna, Lung abscess, Radial bowing, Bronchiect...	OMIM:241600
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna, Split hand, Split...	OMIM:200980
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin...	ORPHA:93351
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Pulmonary hypoplasia, Talipes ...	ORPHA:86822
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease...	OMIM:269150
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Thoracic dysplasia, Narro...	OMIM:208500
Congenital Myopathy 4B, Autosomal Recessive	Pectus excavatum, Flexion contracture, Respiratory insufficiency, High palate, Scoliosis, Distal ...	OMIM:609284
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal rib morpholog...	ORPHA:2145
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, 11 pairs of ribs, Thin upper lip vermilion, Sandal gap, Dental crowding, Anteverted n...	OMIM:617877
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300554
Chitayat Syndrome	Hallux valgus, Recurrent respiratory infections, Respiratory distress, Anteverted nares, Depresse...	OMIM:617180
Cranioectodermal Dysplasia 4	Smooth philtrum, Anteverted nares, Sagittal craniosynostosis, Pectus excavatum, Recurrent pneumon...	OMIM:614378
Braddock Syndrome	Neonatal respiratory distress, Short neck, Pectus excavatum, Preaxial hand polydactyly, Missing r...	ORPHA:52047
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Congenital Myopathy 14	Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi...	OMIM:618414
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Orofacial cleft, Finger clinodactyly, Pulmon...	ORPHA:1692
Femoral-Facial Syndrome	Micrognathia, Coxa vara, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplasia of th...	ORPHA:1988
Tibial Torsion, Bilateral Medial	Bowing of the legs, Scoliosis, Tibial torsion	OMIM:188800
Dysostosis, Stanescu Type	Micromelia, Short neck, Hypoplasia of the maxilla, Increased bone mineral density, Abnormal denta...	ORPHA:1798
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Micrognathia, Pectus excavatum, Osteoarthritis, Cleft palate, Pectus carinatum, Glossoptosis, Abn...	ORPHA:166100
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod...	OMIM:605432
Bartsocas-Papas Syndrome 1	Short neck, Hypoplasia of the maxilla, Micrognathia, Flexion contracture, Hypoplastic iliac wing,...	OMIM:263650
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ...	ORPHA:1040
Brachytelephalangic Chondrodysplasia Punctata	Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Thick nasal alae,...	ORPHA:79345
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ...	ORPHA:3027
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Grant Syndrome	Bowing of the long bones, Depressed nasal bridge, Micrognathia, Open bite, Abnormal rib morpholog...	ORPHA:2097
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis, Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow exten...	ORPHA:156728
Acrocraniofacial Dysostosis	Micrognathia, Abnormal form of the vertebral bodies, Short philtrum, Triphalangeal thumb, Advance...	ORPHA:949
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,...	OMIM:602271
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Coffin-Siris Syndrome 1	Single transverse palmar crease, Conical tooth, Prominent interphalangeal joints, Short philtrum,...	OMIM:135900
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A...	OMIM:619148
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Depressed nasal bridge, Abnormal rib morphology, Wide nasal bridge, Di...	ORPHA:1513
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Apnea, Prominent nasal bridge, Micrognathi...	ORPHA:85201
Pyle Disease	Delayed eruption of teeth, Metaphyseal dysplasia, Mandibular prognathia, Persistence of primary t...	OMIM:265900
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Joi...	ORPHA:2167
Legg-Calvé-Perthes Disease	Cartilage destruction, Abnormality of the dentition	ORPHA:2380
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Pectus excavatum, Joint hyperflexibility, Everted lower lip...	ORPHA:1695
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Anteverted nares, Missing ribs, Short neck, Hyperlordosis, Abno...	ORPHA:1797
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Generalized joint laxity, Delayed epiphyseal ossifica...	ORPHA:750
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Anteverted nares, Micrognathia, Short neck, Dyspnea, Depressed nasal ridge,...	ORPHA:1832
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Respirat...	ORPHA:171430
Muscular Dystrophy, Congenital, 1B	Achilles tendon contracture, Respiratory failure, Spinal rigidity	OMIM:604801
Dysspondyloenchondromatosis	Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula m...	ORPHA:85198
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Depressed nasal bridge, Cortica...	OMIM:122860
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, High, narrow palate, Flexion contracture, Knee flexion...	ORPHA:536516
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Abnormal dental morphology, Short neck, Pectus excavatum, Hyperlord...	ORPHA:2522
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Broad hallux, Exaggerated cupid's bow, Tapered finger, Short toe, Patent ductus art...	OMIM:618659
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate...	OMIM:618363
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spac...	OMIM:253010
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Lateral clavicle hook, Preaxial polyda...	OMIM:615503
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Hamartoma of tongue, P...	OMIM:263520
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome	Bowing of the long bones, Coarse metaphyseal trabecularization, Patent ductus arteriosus, Epiphys...	ORPHA:1952
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Micrognathia, Coxa vara, Narrow greater sciatic...	ORPHA:93316
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ...	OMIM:253220
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, Patent ductus arteriosus, ...	ORPHA:2712
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Wide nasal bridge, High...	OMIM:618393
Autosomal Recessive Hypophosphatemic Rickets	Coxa vara, Enthesitis, Tibial bowing, Hypophosphatemic rickets, Sclerotic vertebral endplates, Ge...	ORPHA:289176
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Depressed ...	ORPHA:1837
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Pulmonary cyst, Anteverted nares, Depressed nasal bridge, Micrognathia, Pectus exc...	OMIM:618272
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus carinatum, High palate, ...	ORPHA:192
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Micrognathia, Asthma, Pne...	ORPHA:2257
Chromosome 3Q29 Deletion Syndrome	Thin upper lip vermilion, Prominent nasal bridge, Tapered finger, Pectus excavatum, Long fingers,...	OMIM:609425
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi...	ORPHA:1765
Mucopolysaccharidosis Type 4	Short neck, Pectus carinatum, Reduced bone mineral density, Anteverted nares, Abnormal dental ena...	ORPHA:582
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Flexion contracture	OMIM:615348
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Dental crowding, Anteverted nares, Sagittal craniosynostos...	OMIM:145420
Renpenning Syndrome	Mandibular prognathia, Macrodontia, Joint stiffness, Pectus excavatum, Abnormal thumb morphology,...	ORPHA:3242
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro...	ORPHA:1350
Stickler Syndrome, Type I	Micrognathia, Osteoarthritis, Bifid uvula, Arachnodactyly, Anteverted nares, Depressed nasal brid...	OMIM:108300
Restrictive Dermopathy 1	Micrognathia, Flexion contracture, Overtubulated long bones, Neonatal death, Depressed nasal brid...	OMIM:275210
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc...	ORPHA:2302
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Short palm, Abnormal bone ossification, S...	ORPHA:79106
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Patent ductus arteriosus, Flexion contr...	ORPHA:314588
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa ...	OMIM:619131
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Pallister-Hall Syndrome	Abnormal lung lobation, Hemivertebrae, Depressed nasal ridge, Bifid uvula, Microretrognathia, Mes...	ORPHA:672
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Xp22.13P22.2 Duplication Syndrome	Mandibular prognathia, Tapered finger, Pectus excavatum, Short neck, Broad nasal tip, Recurrent u...	ORPHA:284180
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300009
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl...	OMIM:619334
Mosaic Trisomy 14	Anteverted nares, Camptodactyly of finger, Prominent nasal bridge, Short neck, Micrognathia, Lowe...	ORPHA:1703
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Depressed nasal bridge, Micromelia, Joint stiffness, Hypop...	ORPHA:1860
Osteoarthritis With Mild Chondrodysplasia	Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular vertebral endpla...	OMIM:604864
Distal Duplication 18Q	Arachnodactyly, Camptodactyly of finger, Abnormal dental morphology, Short neck, Pectus excavatum...	ORPHA:1716
Czeizel-Losonci Syndrome	Hitchhiker thumb, Single transverse palmar crease, Thoracolumbar scoliosis, Micrognathia, 2-3 fin...	ORPHA:2437
Al-Gazali-Bakalinova Syndrome	Epiphyseal dysplasia, Depressed nasal bridge, Tapered finger, Pectus excavatum, Short neck, Trian...	OMIM:607131
Congenital Muscular Dystrophy With Intellectual Disability	Neuropathic spinal arthropathy, Multiple joint contractures, Abnormality of the tongue muscle, Hi...	ORPHA:370968
Arthrogryposis, Distal, Type 1C	Short neck, Knee flexion contracture, High palate, Clinodactyly of the 5th finger, Camptodactyly ...	OMIM:619110
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Gnathodiaphyseal Dysplasia	Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures	OMIM:166260
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Respiratory distress, Short neck, Hypoplasia of the maxilla, S...	OMIM:166250
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Micrognathia, High, narrow palate, High palate, Death in childho...	OMIM:214100
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Dental crowding, Abnormality of the dentition, Pectus ex...	ORPHA:776
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Antev...	ORPHA:2311
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Sacral dimple, Congenital hip dislocation, Multiple joint contractures, Single tra...	OMIM:618291
Lethal Congenital Contracture Syndrome 1	Micrognathia, Abnormal thorax morphology, Pulmonary hypoplasia, Neonatal death, Arthrogryposis mu...	OMIM:253310
Spinocerebellar Ataxia, Autosomal Recessive 31	Pectus excavatum, Gingival overgrowth, High palate, Lumbar kyphoscoliosis, Death in childhood, Cl...	OMIM:619422
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Micromelia, Kyphosis, Patent ductus arteriosus, Short thorax, Limitation ...	ORPHA:93274
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Anteverted nares, Depressed nasal bridge, Short neck, Micrognathia, Cleft palate, Shor...	OMIM:257300
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Tra...	OMIM:314390
Acrodysostosis	Mandibular prognathia, Micromelia, Hypoplasia of the maxilla, Short metatarsal, Depressed nasal r...	ORPHA:950
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Abnormal rib morphology, Downturned corners of mouth, Abnormal ...	ORPHA:2643
Achondrogenesis	Anteverted nares, Micromelia, Abnormal enchondral ossification, Short neck, Micrognathia, Short t...	ORPHA:932
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Prune Belly Syndrome	Recurrent respiratory infections, Congenital hip dislocation, Intestinal malrotation, Pectus exca...	ORPHA:2970
Donnai-Barrow Syndrome	Depressed nasal bridge, Intestinal malrotation, Broad nasal tip, Wide anterior fontanel, Short st...	OMIM:222448
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Blount Disease, Adolescent	Genu varum, Bowing of the legs	OMIM:259200
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, H...	OMIM:234100
Congenital Heart Defects And Skeletal Malformations Syndrome	Dental crowding, Long nose, Downturned corners of mouth, High palate, Clinodactyly of the 5th fin...	OMIM:617602
Distal Duplication 15Q	Arachnodactyly, Camptodactyly of finger, Prominent nasal bridge, Joint stiffness, Pectus excavatu...	ORPHA:1707
Cleft Palate-Large Ears-Small Head Syndrome	Micrognathia, Pectus excavatum, Gingival overgrowth, Cleft palate, Ulnar deviation of finger, Sho...	ORPHA:2013
Congenital Myopathy 1B, Autosomal Recessive	Joint laxity, Recurrent respiratory infections, Respiratory insufficiency, High palate, Pulmonary...	OMIM:255320
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Anteverted nares, Talipes, Postaxial pol...	OMIM:619879
Spondylocostal Dysostosis 2, Autosomal Recessive	Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Restrictive ventilatory defect, Verteb...	OMIM:608681
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint contracture, Joint laxity, Respiratory insufficiency, Increased susceptibility ...	OMIM:615349
Meier-Gorlin Syndrome 1	Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the max...	OMIM:224690
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Short neck, Micrognathia, High, narrow palate, Congenital contracture, High pa...	OMIM:208150
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Platyspondyly, Delayed o...	OMIM:617974
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate, Abnormality of th...	ORPHA:2753
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Pectus carinatum, Downturn...	ORPHA:1507
Typical Nemaline Myopathy	Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Flexion contracture, Hip dislocation, Spin...	ORPHA:171436
Fountain Syndrome	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Brachydactyly, Metaphyseal dyspl...	ORPHA:3219
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Anteverted nares, Depressed nasal bridge, Abnormality of the dentition,...	OMIM:179613
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome	Tapered finger, Pectus excavatum, Downturned corners of mouth, High palate, Short philtrum, Cubit...	ORPHA:85280
Coffin-Siris Syndrome 6	Depressed nasal bridge, Kyphoscoliosis, Micrognathia, Pectus excavatum, High, narrow palate, Deep...	OMIM:617808
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Proximal placement of thumb, Abnormal thumb morphology, Short thumb, Preaxial h...	ORPHA:1120
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Restricted large joint movement, Platyspondyly, Bilateral coxa valga, Abnormal vertebral morpholo...	ORPHA:163665
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Multiple prenatal fractures, Patent ductus arteriosus, Flexion con...	OMIM:616867
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Syndactyly, Premature loss of permanent teeth, Broad hallux, Micrognathia...	OMIM:212780
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Developmental Delay With Variable Neurologic And Brain Abnormalities	Wide nose, Anteverted nares, Down-sloping shoulders, Micrognathia, Pectus excavatum, Knee flexion...	OMIM:619694
Craniometadiaphyseal Dysplasia	Osteopenia, Natal tooth, Mandibular prognathia, Broad long bones, Dental crowding, Coxa valga, Cu...	OMIM:269300
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Respiratory insuf...	OMIM:615633
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop...	OMIM:184250
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Anteverted nares, Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form o...	ORPHA:73230
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Non-midline cleft lip, Abnormal femur morphol...	ORPHA:3429
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A...	OMIM:602196
Arthrogryposis, Distal, Type 5	Arachnodactyly, Decreased palmar creases, Limited wrist extension, Reduced forced expiratory volu...	OMIM:108145
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Depressed nasal bridge, Single transv...	OMIM:617425
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Pectus excavatum, Perianal abscess, Small hand, Wide nasal bridge, Pect...	OMIM:614684
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp...	OMIM:300232
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Aspergillosis	Chronic lung disease, Osteomyelitis, Sinusitis, Pneumonia, Hypersensitivity pneumonitis, Dyspnea,...	ORPHA:1163
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Camptodactyly Syndrome, Guadalajara Type 2	Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral bodies, Hip dis...	ORPHA:1326
Schwartz-Jampel Syndrome	Apnea, Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flex...	ORPHA:800
Usmani-Riazuddin Syndrome, Autosomal Recessive	Joint laxity, High palate, Pectus excavatum, Lumbar scoliosis	OMIM:619548
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Wide nose, Arachnodactyly, Thenar muscle atrophy, Pectus e...	ORPHA:2463
Recombinant 8 Syndrome	Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Clinodactyly of the 5th f...	ORPHA:96167
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Short neck, Micrognathia, Downturned corners of mouth, Oligodontia, Short philtrum, Joint laxity,...	ORPHA:391408
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Intestinal malrotation, Micrognathia, Pectus excavatum, Kyphosis, Deep philtrum, Underdeveloped n...	ORPHA:77300
Saul-Wilson Syndrome	Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat...	OMIM:618150
Mucolipidosis Ii Alpha/Beta	Osteopenia, Micrognathia, Metaphyseal widening, Death in childhood, Progressive alveolar ridge hy...	OMIM:252500
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hallux valgus, Thoracic kyphoscoliosis, Recurrent respiratory infections, Lumbar hyperlordosis, S...	OMIM:613385
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Short t...	ORPHA:85184
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Meier-Gorlin Syndrome 7	Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, High palate, Dislocate...	OMIM:617063
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Single transverse palmar crease, Short neck, Hypoplasia ...	OMIM:305400
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta...	OMIM:182212
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Narrow nasal bridge, Toe syndactyly, Metatarsus valg...	ORPHA:3082
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Joint laxity, Recurrent respiratory infections, Multiple joint contractures, Spinal rigidity, Pec...	ORPHA:486815
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Osteoarthritis, Metaphyseal widening, Short ...	OMIM:251450
Mosaic Trisomy 16	Syndactyly, Abnormality of the cervical spine, Single transverse palmar crease, Abnormality of th...	ORPHA:1708
Cataract-Hypertrichosis-Intellectual Disability Syndrome	Pectus excavatum, Microdontia, Depressed nasal bridge, Abnormal palate morphology	ORPHA:1375
Schneckenbecken Dysplasia	Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva...	OMIM:269250
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Anteverted nares, Prominent...	ORPHA:2180
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Dermatog...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Dermatog...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Dermatog...	ORPHA:99226
Turner Syndrome	Osteopenia, Short neck, Micrognathia, High, narrow palate, Reduced bone mineral density, Dermatog...	ORPHA:881
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High pala...	OMIM:300373
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Rectal prolapse, Conical incisor, Oligodontia, Cutaneous finger syndactyly, Protein-losing entero...	OMIM:235510
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg...	OMIM:255800
Odontochondrodysplasia	Delayed eruption of teeth, Death in infancy, Bowing of the long bones, Respiratory distress, Depr...	ORPHA:166272
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Mandibular prognathia, Hyperextensibility of the finger joints, Dental crowding, Single transvers...	OMIM:309583
Fryns Syndrome	Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Intestinal malrotation, Shor...	ORPHA:2059
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Congenital contracture, Respiratory failure	OMIM:225753
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Scoliosis, Pseudoarthrosis	OMIM:618155
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood	OMIM:614096
Macs Syndrome	Joint laxity, Irregular dentition, Pes planus, Single transverse palmar crease, Micrognathia, Pec...	OMIM:613075
Hypophosphatasia, Infantile	Recurrent respiratory infections, Death in infancy, Apnea, Craniosynostosis, Bowing of the legs, ...	OMIM:241500
Fibrochondrogenesis	Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Short neck, Depresse...	ORPHA:2021
Pentalogy Of Cantrell	Talipes, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Orofacial cleft, Cleft pal...	ORPHA:1335
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Dental crowding, Single transverse palmar crease, Micrognathia, Oligodontia, High palate, Short p...	OMIM:617061
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat...	OMIM:271650
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Hyperlordosis, Micrognathia, High, nar...	ORPHA:2780
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger...	ORPHA:2215
Frontometaphyseal Dysplasia 1	Carpal synostosis, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee...	OMIM:305620
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Fibrochondrogenesis 2	Anteverted nares, Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal wi...	OMIM:614524
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs, L...	ORPHA:2204
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Juberg-Hayward Syndrome	Wide nose, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abn...	ORPHA:2319
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Anteverted nares, Cleft sof...	OMIM:616331
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Abnormal number of incisors, Coxa valga, Prominent nose, Osteoporosis, Finger clinodactyly, Patel...	ORPHA:2958
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Sinusitis, Ovoid vertebral bodies, Joint stiffness, Short neck, Kyphosis, R...	ORPHA:583
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage	ORPHA:2867
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Abnormal intervertebral disk morphology, Anteverted nares, Pectus excavatum, Carious teeth, Deep ...	ORPHA:2701
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis	OMIM:241520
Distal Monosomy 7Q36	Short neck, Pectus excavatum, Micrognathia, Non-midline cleft lip, Bulbous nose, Cleft palate, Sy...	ORPHA:1636
Congenital Disorder Of Glycosylation, Type Iia	Osteopenia, Mandibular prognathia, Proximal placement of thumb, Short neck, Thoracolumbar kyphosc...	OMIM:212066
Orofaciodigital Syndrome Type 10	Short neck, Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation o...	ORPHA:2756
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin...	OMIM:117650
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Sandal gap, Micrognathia, Depressed nasal ridge, Respiratory insufficiency, Aplasia/Hypoplasia of...	ORPHA:1046
Spondylospinal Thoracic Dysostosis	Micrognathia, Hypoplasia of the maxilla, Short thorax, Pulmonary hypoplasia, Arthrogryposis multi...	OMIM:601809
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Scapular winging, Dental crowding, Talipes, Spinal rigidity,...	OMIM:620351
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi...	ORPHA:64755
Neu-Laxova Syndrome	Osteopenia, Micromelia, Micrognathia, Flexion contracture, Depressed nasal ridge, Bifid uvula, Os...	ORPHA:2671
Alg9-Cdg	Villous atrophy, Short neck, Micrognathia, Abnormal lung lobation, Narrow greater sciatic notch, ...	ORPHA:79328
Shprintzen-Goldberg Syndrome	Osteopenia, Apnea, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Abnormal form of...	ORPHA:2462
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Barrel-shaped chest, Recurrent fractures, Kyphoscoliosis, Kyphosis, Metaphyseal widen...	OMIM:259770
Neuropathy, Congenital Hypomyelinating, 3	Limb joint contracture, Micrognathia, Abnormal foot morphology, Flexion contracture, 2-3 toe synd...	OMIM:618186
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections...	ORPHA:70
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:619003
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflamm...	OMIM:619708
Van Buchem Disease	Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones	OMIM:239100
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Thin upper lip...	OMIM:616503
Agnathia-Otocephaly Complex	Respiratory distress, Wide nose, Micrognathia, Aglossia, Cleft palate, Pulmonary hypoplasia, Narr...	OMIM:202650
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short neck, Micrognathia, Downturned corners of mouth, Thoracic kyphosis, Narrow chest, High pala...	ORPHA:163649
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus, Pulmonary hypoplasia	OMIM:618174
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Syndactyly, Arachnodactyly, Pectus excavatum, Thoracic kyphosis, Widely spaced teeth, Clinodactyl...	OMIM:619092
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Pectus excavatum, Bulbous nose, Patent ductus arteriosus, Oligodontia, ...	OMIM:618330
Mcdonough Syndrome	Mandibular prognathia, Micrognathia, Pectus excavatum, Open bite, Kyphosis, Prominent nose, Denta...	ORPHA:2471
Renal Tubular Dysgenesis	Joint hyperflexibility, Pulmonary hypoplasia, Bilateral single transverse palmar creases	ORPHA:3033
Fryns Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Short n...	OMIM:229850
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Missing ribs, Micrognathia,...	ORPHA:3301
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Cleft palate, Abnormal shoulder ...	ORPHA:2345
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Short neck, Micrognathia, Hypoplasia of the maxilla, Hem...	OMIM:213980
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Short neck, Micrognathia, Abnormal lung lobation, Abnormal form of t...	ORPHA:818
Qazi-Markouizos Syndrome	Prominent nasal bridge, Tapered finger, Pectus excavatum, High, narrow palate, Hypoplasia of teet...	ORPHA:3010
Frank-Ter Haar Syndrome	Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, High palate, Short palm, Shor...	OMIM:249420
Chromosome 2P16.1-P15 Deletion Syndrome	Thin upper lip vermilion, Arachnodactyly, Depressed nasal bridge, Kyphoscoliosis, Pectus excavatu...	OMIM:612513
Acrootoocular Syndrome	Decreased palmar creases, Abnormal finger flexion crease, Micrognathia, High, narrow palate, Anod...	ORPHA:2980
Spondyloepimetaphyseal Dysplasia, X-Linked

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