Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Fgf18 MGI:1277980

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

fibroblast growth factor 18

Synonyms:

FGF-18, D130055P09Rik

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 Fgf18 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 Fgf18 (0 diseases)
Human diseases predicted to be associated with Fgf18 (1576 diseases)

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

The table below shows human diseases predicted to be associated to Fgf18 by phenotypic similarity.

Disease	Matching phenotypes	Source
Cervical Rib	Cervical ribs	OMIM:117900
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros...	ORPHA:85188
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/Hypoplasia of the fibula, Aplasia/hypopla...	ORPHA:2141
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Osebold-Remondini Syndrome	Decreased finger mobility, Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna,...	OMIM:112910
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:600081
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
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular...	OMIM:271700
Osteogenesis Imperfecta, Type Iii	Recurrent fractures, Severe generalized osteoporosis, Micrognathia, Multiple prenatal fractures, ...	OMIM:259420
Atelosteogenesis, Type Iii	Radial bowing, Sandal gap, Rhizomelia, Micrognathia, Hypoplasia of the maxilla, Tombstone-shaped ...	OMIM:108721
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Femoral bo...	OMIM:602111
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han...	OMIM:164900
Kniest Dysplasia	Respiratory distress, Enlarged joints, Delayed epiphyseal ossification, Coxa vara, Tibial bowing,...	OMIM:156550
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Prematu...	OMIM:156510
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Abnormal hip joint morphology, Hypoplasia of the ulna, Broad hallux, Ovoid vertebral bodies, Tali...	ORPHA:1856
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Metatropic Dysplasia	Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Joint stiffness, Ab...	ORPHA:2635
Brachyolmia Type 1, Hobaek Type	Osteopenia, Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiph...	OMIM:271530
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join...	ORPHA:93405
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Heart Defects-Limb Shortening Syndrome	Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm...	ORPHA:1354
Osteogenesis Imperfecta, Type Viii	Osteopenia, Joint laxity, Barrel-shaped chest, Short metacarpal, Radial bowing, Recurrent fractur...	OMIM:610915
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Sh...	OMIM:108720
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Delayed epiphyseal ossification, Metaphyseal widening, Short met...	ORPHA:93314
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Recurrent fractures, Beaded ribs, Multiple ...	OMIM:166210
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow...	OMIM:264700
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Pes planus, Short neck, Tapered finger, Hip dislocation, Th...	OMIM:618395
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Coronal cleft vertebrae, Short long bone, Short 3rd metacarpal,...	OMIM:118651
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Lumbar hyperlordosis, Radial bowing, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bow...	OMIM:277440
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Osteopenia, Progeroid facial appearance, Hypoplasia of the maxilla, Genu valgum, Slender long bon...	OMIM:608154
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia...	OMIM:151210
Kyphomelic Dysplasia	Micromelia, Micrognathia, Lateral clavicle hook, Femoral bowing, Tibial bowing, Pterygium, Short ...	OMIM:211350
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Joint stiffness, Cupped ribs, Metaphyseal widening, Dental malocclu...	OMIM:608940
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Abnormally ossified vertebrae, Radial bowing, Intestinal malrotation, M...	ORPHA:3035
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Short neck, Micrognathia, Hemivertebrae, Abnormal lung lobation, Pe...	ORPHA:958
Dyggve-Melchior-Clausen Disease	Mandibular prognathia, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinat...	OMIM:223800
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Bowing of the legs, Enlargemen...	OMIM:241530
Congenital Absence Of Upper Arm And Forearm With Hand Present	Syndactyly, Abnormal thorax morphology, Abnormal lung morphology, Upper limb phocomelia, Abnormal...	ORPHA:294975
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate...	OMIM:249710
Osteogenesis Imperfecta, Type X	Osteopenia, Respiratory distress, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint...	OMIM:613848
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys...	ORPHA:166016
Otospondylomegaepiphyseal Dysplasia	Enlarged joints, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial bowing, Abn...	ORPHA:1427
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormality of the ...	ORPHA:3268
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Weismann-Netter Syndrome	Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Delayed erup...	OMIM:112350
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Shox-Related Short Stature	Micrognathia, Madelung deformity, Genu valgum, Short foot, Tibial bowing, High palate, Forearm un...	ORPHA:314795
Microcephaly-Micromelia Syndrome	Craniosynostosis, Short neck, Missing ribs, Micromelia, Absent thumb, Humeroradial synostosis, Ab...	OMIM:251230
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa...	ORPHA:2098
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Death in...	OMIM:256050
Metaphyseal Dysplasia, Spahr Type	Progressive leg bowing, Metaphyseal dysplasia, Bowing of the legs, Metaphyseal sclerosis, Metaphy...	OMIM:250400
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Irregul...	ORPHA:289157
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Delayed proximal femoral epiphyseal ossification, Flexion contracture, Metaphyseal ...	OMIM:271640
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M...	OMIM:227270
Parastremmatic Dwarfism	Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis	OMIM:168400
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in...	ORPHA:75508
Blount Disease	Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the...	ORPHA:2768
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Radial bowing, Intestinal malrotation, Postaxial polydactyly, Missing r...	OMIM:617866
Cleidocranial Dysplasia 2	Osteopenia, Pes planus, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary te...	OMIM:620099
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Achondroplasia	Respiratory distress, Limited hip extension, Bowing of the legs, Generalized joint laxity, Femora...	OMIM:100800
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Osteomalacia, Bowing of the legs, Osteoarthritis, Enamel hypominera...	OMIM:307800
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Mes...	ORPHA:2631
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Joint stiffness, Hyperlordosis, Kyphosis, Abnor...	ORPHA:40
Microphthalmia With Limb Anomalies	Single transverse palmar crease, Deep philtrum, 2-3 toe cutaneous syndactyly, Tibial bowing, Camp...	OMIM:206920
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
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Metatarsus adductus, Elbow dislocation, Clinod...	ORPHA:2804
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Grant Syndrome	Tibial bowing, Wormian bones, Down-sloping shoulders, Micrognathia	OMIM:138930
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost...	OMIM:609052
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ...	OMIM:268310
Ulnar Hypoplasia With Mental Retardation	Talipes equinovarus, Bilateral ulnar hypoplasia, Limitation of knee mobility, Limited elbow movement	OMIM:276821
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Joint stiffness, Metatarsus ad...	ORPHA:2249
Mental Retardation Syndrome, Mietens-Weber Type	Pes planus, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Dis...	OMIM:249600
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Short tubular bones of the hand, Bowing of the legs, Proxim...	ORPHA:174
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome	Recurrent respiratory infections, Arachnodactyly, Joint stiffness, Kyphosis, Pectus carinatum, Ap...	ORPHA:1548
Dysostosis, Stanescu Type	Increased bone mineral density, Bowing of the long bones, Persistent open anterior fontanelle, Ab...	ORPHA:1798
Osteosclerosis With Ichthyosis And Fractures	Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic...	OMIM:166740
Stuve-Wiedemann Syndrome 1	Enlarged joints, Apnea, Single transverse palmar crease, Micrognathia, Knee flexion contracture, ...	OMIM:601559
Aarskog-Scott Syndrome	Genu recurvatum, Single transverse palmar crease, Hypoplasia of the maxilla, Orofacial cleft, Sho...	ORPHA:915
Multicentric Carpotarsal Osteolysis Syndrome	Osteopenia, Ulnar deviation of the hand, Ankle swelling, Micrognathia, Hypoplasia of the maxilla,...	OMIM:166300
Marshall Syndrome	Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Clinodactyly of the 5th finger, Small ...	OMIM:154780
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu...	OMIM:142900
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra...	ORPHA:363417
Geroderma Osteodysplasticum	Osteopenia, Hyperextensibility of the finger joints, Mandibular prognathia, Recurrent fractures, ...	OMIM:231070
3M Syndrome	Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ...	ORPHA:2616
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Femoral bowing, Ti...	OMIM:304120
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx ...	OMIM:184260
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Short distal phalanx of finger, Osteolysis, Abnormality of the dentition	ORPHA:2776
Microphthalmia With Limb Anomalies	Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, High pa...	ORPHA:1106
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Recurrent respiratory infections, Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook...	OMIM:208500
Boomerang Dysplasia	Finger syndactyly, Abnormally ossified vertebrae, Abnormal morphology of the radius, Abnormal mor...	ORPHA:1263
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Lateral clavicle hook, High, narrow pala...	OMIM:600920
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Recurrent fractur...	ORPHA:140
Grant Syndrome	Joint dislocation, Bowing of the long bones, Micrognathia, Open bite, Abnormal rib morphology, La...	ORPHA:2097
Multicentric Osteolysis, Nodulosis, And Arthropathy	Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metaphyseal widening, Metatarsal osteolysis,...	OMIM:259600
Leri-Weill dyschondrostosis (LWD) - SHOX deletion	Radial bowing, Madelung deformity, Limited pronation/supination of forearm	DECIPHER:58
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Premature Aging Syndrome, Penttinen Type	Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Palmoplantar hyperkerato...	OMIM:601812
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t...	OMIM:212780
Campomelic Dysplasia	Respiratory distress, Irregular dentition, Thoracic scoliosis, Apnea, Anterior tibial bowing, Mic...	OMIM:114290
Pycnodysostosis	Abnormal clavicle morphology, Obtuse angle of mandible, Persistent open anterior fontanelle, Micr...	ORPHA:763
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad...	OMIM:171480
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morpho...	ORPHA:2790
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Short neck, Abnormal hand bone o...	OMIM:200600
Perching Syndrome	Respiratory distress, Cyanosis, High palate, Camptodactyly, Joint contracture	OMIM:617055
Hip Dysplasia, Beukes Type	Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea...	ORPHA:2114
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth...	OMIM:246560
Mohr Syndrome	Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ...	OMIM:252100
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Recurrent aspiration pneumonia, Polydactyly	OMIM:300484
Jackson-Weiss Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Broad met...	ORPHA:1540
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad...	OMIM:602875
Spondyloepimetaphyseal Dysplasia, Irapa Type	Micromelia, Osteoarthritis, Abnormal carpal morphology, Short metatarsal, Coxa vara, Pectus carin...	ORPHA:93351
Lujan-Fryns Syndrome	Dental crowding, Camptodactyly of finger, Arachnodactyly, Abnormality of the dentition, Pectus ex...	ORPHA:776
Hypophosphatemic Rickets, X-Linked Recessive	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300554
Blount Disease, Adolescent	Genu varum, Osteochondritis dissecans, Bowing of the legs	OMIM:259200
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Joint hyperflexibility, Abnormal epiphys...	ORPHA:90653
Metaphyseal Chondrodysplasia, Spahr Type	Progressive leg bowing, Bowing of the long bones, Metaphyseal dysplasia, Abnormality of the denti...	ORPHA:2501
Eiken Syndrome	Delayed epiphyseal ossification, Limited elbow flexion, Short palm, Abnormal bone ossification, S...	ORPHA:79106
Caffey Disease	Cortical irregularity, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bo...	OMIM:114000
Greenberg Dysplasia	Micromelia, Beaded ribs, Multiple prenatal fractures, Micrognathia, Patchy variation in bone mine...	OMIM:215140
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Joint dislocation, Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing,...	OMIM:618019
Acrorenal-Mandibular Syndrome	Micrognathia, Hemivertebrae, Narrow chest, Hypoplasia of the ulna, Split hand, Split foot, Toe sy...	OMIM:200980
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnor...	ORPHA:950
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ...	ORPHA:1801
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Proximal radio-ulnar synostosis, Syndactyly, Purpura, Radial bowing, Ulnar bowing, Hip dislocatio...	OMIM:605432
Van Maldergem Syndrome 1	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:601390
Shprintzen-Goldberg Craniosynostosis Syndrome	Osteopenia, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Meta...	OMIM:182212
Melnick-Needles Syndrome	Obtuse angle of mandible, Micrognathia, Tibial bowing, Narrow chest, Cone-shaped epiphyses of the...	OMIM:309350
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Dental crowding, Micrognathia, Generalized joint laxity, Tibial bowing, High palate, ...	ORPHA:251028
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Abnormal morphology of uln...	ORPHA:1307
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Joint stiffness, Pectus ...	ORPHA:392
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Hypoplasia of the ulna, Death in infancy, Micrognathia, Wide anterior f...	OMIM:619135
Pseudoachondroplasia	Limited hip extension, Genu recurvatum, Spatulate ribs, Delayed epiphyseal ossification, Osteoart...	OMIM:177170
Meier-Gorlin Syndrome 1	Respiratory distress, Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the max...	OMIM:224690
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Joint stiffness, Micrognathia, Hypoplasia of the maxilla, Non-mi...	ORPHA:245
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Hyperextensibility of the finger joints, Recurrent fractures, Microgna...	OMIM:613849
Craniometadiaphyseal Dysplasia	Osteopenia, Natal tooth, Mandibular prognathia, Broad long bones, Dental crowding, Wormian bones,...	OMIM:269300
Thoracic Dysostosis, Isolated	Pectus excavatum, Short ribs, Bell-shaped thorax	OMIM:187750
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Broad femoral neck, Microgn...	ORPHA:85184
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Decreased hip abduction, Flat capital femoral epiphysis, Pectus carinatum, ...	OMIM:609223
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, High ...	OMIM:201000
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,...	OMIM:609945
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Micromelia, Elbow dislocation, Short t...	ORPHA:3258
Frontonasal Dysplasia 1	Median cleft lip, Hypoplasia of the maxilla, Postaxial hand polydactyly, Hypoplastic frontal sinu...	OMIM:136760
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Flexion contracture, Tibi...	OMIM:143095
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Lumbar hyperlordosis, Hypoplastic scapulae, Rhizomelia, Mi...	OMIM:602471
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Abnormal thorax morphology, Talipes equinovalgus, Hip dislocation, Meso...	OMIM:605274
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Camptodactyly of finger, Tapered finger, Hypoplasia of the maxilla, High palate, Talipes equinova...	ORPHA:85279
Diastrophic Dysplasia	Abnormal clavicle morphology, Micromelia, Proximal placement of thumb, Micrognathia, Abnormal for...	ORPHA:628
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Micrognathia, Coxa valga, Wide anterior fontanel, Abnormality of ...	ORPHA:163649
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Talipes equinovalgus, Tibia...	ORPHA:453510
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Pectus carinatum, Tibial bowing, Narrow chest, Short pa...	ORPHA:175
Cohen Syndrome	Pes planus, Thoracic scoliosis, Short metacarpal, Single transverse palmar crease, Micrognathia, ...	OMIM:216550
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Osteopathia striata, Pectus carinatu...	OMIM:212720
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia,...	ORPHA:96334
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Li...	OMIM:147750
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat...	OMIM:271650
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Maxillonasal Dysplasia	Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Open bite, Hypopla...	ORPHA:1248
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Short philtrum,...	ORPHA:439822
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Thoracic hypoplasia, Metaphyseal spurs, Postaxial polydactyly, Lateral cl...	OMIM:613091
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Short neck, Short tibia, Ulnar bowing, Th...	OMIM:620076
Acromesomelic Dysplasia 3	Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st metacarpal, Widene...	OMIM:609441
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Hypoplasia of the maxilla, Postaxial polydactyl...	OMIM:619142
Van Bogaert-Hozay Syndrome	Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micrognathia	OMIM:277150
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Mandibular prognathia, Hallux valgus, Cone-shaped epiphyses of the 3rd toe, Crowded maxillary inc...	ORPHA:397973
Andersen Cardiodysrhythmic Periodic Paralysis	Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal...	OMIM:170390
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Hypoplasia of the maxilla, Pectus carinatum, Narrow mouth, Malar flattening...	ORPHA:261295
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Respiratory distress, Hypoplasia of the maxilla, Short metatar...	OMIM:166250
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Rhyns Syndrome	Osteopenia, Radial bowing, Osteoporosis, Short long bone, Short femoral neck, Brachydactyly	OMIM:602152
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Coxa vara, Reduced bone mineral density, Pectus carinatum, Tibial bowing, High palate, Hypoplasti...	ORPHA:93315
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ...	ORPHA:2879
Keipert Syndrome	Broad hallux phalanx, Tented upper lip vermilion, Exaggerated cupid's bow, Short hallux, Aplasia/...	ORPHA:2662
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ...	ORPHA:93267
Lethal Congenital Contracture Syndrome Type 1	Recurrent fractures, Short neck, Micrognathia, Limitation of joint mobility, Abnormal rib morphol...	ORPHA:1486
Glass Syndrome	Smooth philtrum, Dental crowding, Anterior tibial bowing, Arachnodactyly, Conical tooth, Microgna...	OMIM:612313
Dent Disease 1	Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalacia, Bowing of the le...	OMIM:300009
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Ulnar deviation...	ORPHA:1529
Van Maldergem Syndrome 2	Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi...	OMIM:615546
Bullous Dystrophy, Hereditary Macular Type	Death in childhood, Acrocyanosis, Short finger, Tapered finger	OMIM:302000
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper...	OMIM:609616
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ...	ORPHA:1040
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Death in infancy, Lateral clavicle hook, Narrow chest, Short ribs, Horizontal ribs	OMIM:617405
Coffin-Lowry Syndrome	Hypoplasia of the maxilla, Pectus carinatum, High palate, Widely spaced teeth, Advanced eruption ...	ORPHA:192
Achondrogenesis Type 1B	Micromelia, Short neck, Abnormal enchondral ossification, Micrognathia, Short thorax, Abnormal ri...	ORPHA:93298
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Tarsal synostosis, Duplication of thumb phalanx, Short neck, Microg...	ORPHA:2756
Orofaciodigital Syndrome Vi	Micrognathia, Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper ...	OMIM:277170
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Rhizomelia, Wide anterior fontanel, Palmoplantar cutis laxa,...	OMIM:616482
Osteogenesis Imperfecta, Type Xix	Osteopenia, Rhizomelia, Recurrent fractures, Bowing of the legs, Pectus excavatum, Multiple prena...	OMIM:301014
Pfeiffer Syndrome	Mandibular prognathia, Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Mietens Syndrome	Hypoplasia of the ulna, Talipes, Joint stiffness, Metatarsus adductus, Coxa valga, Avascular necr...	ORPHA:2557
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities	Unilateral wrist flexion contracture, Overlapping fingers, Femoral retroversion, Micrognathia, Kn...	OMIM:616531
Spondylometaphyseal Dysplasia, Axial	Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,...	OMIM:602271
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Genu valgum, ...	ORPHA:2972
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Endocrine-Cerebroosteodysplasia	Single transverse palmar crease, Micromelia, Micrognathia, Preaxial polydactyly, Tibial bowing, N...	OMIM:612651
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Upper limb undergrowth, Pulmonary hypoplasia, Thoracic hypoplasia	OMIM:613124
Pyle Disease	Delayed eruption of teeth, Mandibular prognathia, Metaphyseal dysplasia, Persistence of primary t...	OMIM:265900
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Widely patent sagittal ...	OMIM:228520
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Immunodeficiency 43	Recurrent respiratory infections, Hypoplasia of the ulna, Lung abscess, Radial bowing, Bronchiect...	OMIM:241600
Spondyloepimetaphyseal Dysplasia, Di Rocco Type	Metaphyseal dysplasia, Bowing of the legs, Reduced bone mineral density, Delayed ossification of ...	OMIM:617974
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa...	OMIM:613330
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Lethal Congenital Contracture Syndrome 11	Microretrognathia, Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Bilater...	OMIM:617194
Winchester Syndrome	Kyphosis, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Generalized os...	OMIM:277950
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Pectus carinatum, Femoral bowing, High palate, Foot oligodactyly, Aplasia/Hypoplasia of the tarsa...	OMIM:276820
8Q22.1 Microdeletion Syndrome	Finger syndactyly, Sandal gap, Camptodactyly of finger, Craniosynostosis, Abnormality of the dent...	ORPHA:178303
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology	ORPHA:2435
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Pes planus, Recurrent fractures, Bowing of the legs, Pectus excavatum, Coxa ...	OMIM:619131
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius, Mi...	ORPHA:1765
Shprintzen-Goldberg Syndrome	Osteopenia, Pes planus, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Cranio...	ORPHA:2462
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Osteoporosis, Joint hyperflexibility, Wormian bones, Short distal phalanx of finger, Brachydactyly	ORPHA:2787
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies	Overlapping toe, Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger	OMIM:618453
Achondrogenesis Type 1A	Multiple rib fractures, Recurrent fractures, Micromelia, Abnormal enchondral ossification, Short ...	ORPHA:93299
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Rhizomelia, Postaxial polydactyly, Unicoronal synostosis, Squared iliac bones,...	OMIM:616300
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi...	ORPHA:56305
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
X-Linked Intellectual Disability, Stocco Dos Santos Type	Talipes equinovarus, Kyphosis, Recurrent respiratory infections, Congenital bilateral hip disloca...	ORPHA:85288
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Pes planus, Single transverse ...	OMIM:305400
Craniodiaphyseal Dysplasia	Craniofacial hyperostosis, Abnormal rib morphology, Diaphyseal thickening	ORPHA:1513
Cleidocranial Dysplasia	Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Nar...	ORPHA:1452
Osteogenesis Imperfecta, Type Ix	Recurrent fractures, Beaded ribs, Multiple prenatal fractures, Pectus excavatum, Kyphosis, Pectus...	OMIM:259440
Hypophosphatasia	Bowing of the long bones, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Em...	ORPHA:436
Arthrogryposis, Distal, Type 1C	Hip contracture, Pursed lips, Shoulder flexion contracture, Camptodactyly of finger, Rocker botto...	OMIM:619110
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thora...	OMIM:615633
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Micro...	OMIM:617468
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Kyphosis, Pectus carinatum, Reduced bone mineral density, Delayed ossification of carpal bones, S...	OMIM:618392
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Bowing of the le...	OMIM:608728
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor...	ORPHA:1836
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Micrognathia, Bowing of the legs, Pectus carinatum, Abnormal calcification of the car...	OMIM:271665
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Hyp...	OMIM:617925
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle hook, Hypopl...	OMIM:617895
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Smooth philtrum, Thoracic kyphoscoliosis, Arachnodactyly, Broad hallux, Hypoplasia of the maxilla...	ORPHA:481152
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro...	ORPHA:1350
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation...	ORPHA:3329
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Brachydactyly, Type B1	Type B brachydactyly, Vertebral fusion, Syndactyly, Aplasia/Hypoplasia of the distal phalanges of...	OMIM:113000
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br...	OMIM:300106
Craniosynostosis-Mental Retardation-Clefting Syndrome	Forearm undergrowth, Craniosynostosis, Lower limb undergrowth	OMIM:218650
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Pes planus, Carious teeth, Hypoplasia of the maxilla, Large fontanelle...	ORPHA:50814
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Brachydactyly, Bilateral single transverse palmar creases, Abnormality of ...	ORPHA:2511
Spondylocostal Dysostosis 3, Autosomal Recessive	Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ...	OMIM:609813
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Short neck, Micrognathia, Kyphosis, Prenatal death, Camptod...	OMIM:618393
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Short neck, Micrognathia, Narrow chest, Short phalanx of finger, B...	ORPHA:56304
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif...	OMIM:222600
Cohen Syndrome	Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Short philtrum, Clinodactyly of the...	ORPHA:193
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2	Radial bowing, Subcutaneous calcification	OMIM:617993
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Bowing of the long bones, Micrognathia, Cox...	ORPHA:2484
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Wide cranial sutures, Broad long bones, Dental crowding, Fifth finger ...	OMIM:257850
Hypophosphatasia, Childhood	Premature loss of primary teeth, Craniosynostosis, Carious teeth, Bowing of the legs, Rachitic ro...	OMIM:241510
Smith-Mccort Dysplasia 1	Short neck, Short phalanx of finger, Genu varum, Barrel-shaped chest, Short metacarpal, Iliac cre...	OMIM:607326
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypoplasia of the maxilla, Respiratory insufficiency, Abnormal metacarpal morphology, Malar flatt...	ORPHA:93262
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,...	OMIM:218000
Osteogenesis Imperfecta, Type Xvi	Osteopenia, Multiple rib fractures, Microretrognathia, Angulated humerus, Bowing of the long bone...	OMIM:616229
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Vertebr...	ORPHA:1570
Ear-Patella-Short Stature Syndrome	Respiratory distress, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Clinodactyly ...	ORPHA:2554
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla...	OMIM:201170
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal should...	OMIM:274000
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epip...	OMIM:613320
Ghosal Hematodiaphyseal Dysplasia	Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo...	ORPHA:1802
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu...	OMIM:187600
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Myhre Syndrome	Mandibular prognathia, Craniofacial hyperostosis, Short palm, Brachydactyly, Joint stiffness, Hyp...	ORPHA:2588
Spondylocostal Dysostosis 1, Autosomal Recessive	Back pain, Vertebral fusion, Recurrent respiratory infections, Death in infancy, Block vertebrae,...	OMIM:277300
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Mandibular prognathia, Thin upper lip vermilion, Brachydactyly, Micrognathia, Pectus excavatum, D...	OMIM:300534
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Hypoplasia of the maxilla, Elbow dislocation, Irregular fe...	OMIM:613805
Brachyolmia Type 1, Toledo Type	Back pain, Broad tibial metaphyses, Kyphoscoliosis, Short neck, Precocious costochondral ossifica...	OMIM:271630
Osteogenesis Imperfecta, Type Xxii	Bowing of the long bones, Recurrent fractures, Multiple prenatal fractures, Reduced bone mineral ...	OMIM:619795
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Micrognathia, Hypoplasia of the maxilla, Aplasia/...	OMIM:613803
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Mandibular prognathia, Long palm, Pectus excavatum, Hypoplasia of the maxilla, Pectus carinatum, ...	OMIM:300676
Kagami-Ogata Syndrome	Long clavicles, Micrognathia, Hypoplasia of the maxilla, Long fingers, Coxa valga, Flexion contra...	OMIM:608149
Oncogenic Osteomalacia	Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,...	ORPHA:352540
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Hao-Fountain Syndrome	Clinodactyly of the 5th finger, Hallux valgus, Large fontanelles, Delayed cranial suture closure	OMIM:616863
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,...	OMIM:184253
Neuralgic Amyotrophy	Scapular winging, Cleft palate, Respiratory insufficiency, Narrow mouth, Sprengel anomaly, Acrocy...	ORPHA:2901
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o...	OMIM:614900
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th...	ORPHA:93324
Orofaciodigital Syndrome Ix	Toe syndactyly, Hand polydactyly, Camptodactyly, Short tibia, Recurrent aspiration pneumonia	OMIM:258865
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Osteolysis, Foot acroosteolysis, Reduced bone mineral de...	ORPHA:970
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Hypoplastic iliac wing, Kyphosi...	OMIM:313400
Craniodiaphyseal Dysplasia, Autosomal Dominant	Mandibular prognathia, Craniofacial hyperostosis, Thickened ribs, Cortical sclerosis, Craniofacia...	OMIM:122860
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft...	ORPHA:3104
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Abnormal form of the vertebral bodies, F...	ORPHA:1788
Saethre-Chotzen Syndrome	Proximal radio-ulnar synostosis, Finger syndactyly, Hallux valgus, Bilateral single transverse pa...	ORPHA:794
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Joint laxity, Hyperextensibility of the finger joints, Thin upper lip vermilion, Dental crowding,...	OMIM:309520
Schinzel-Giedion Midface Retraction Syndrome	Long clavicles, Increased density of long bones, Single transverse palmar crease, Wide distal fem...	OMIM:269150
Bethlem Myopathy 2	Scapular winging, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocation, Scoliosis	OMIM:616471
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr...	OMIM:618363
Osteogenesis Imperfecta, Type V	Osteopenia, Hyperextensibility of the finger joints, Pes planus, Wormian bones, Recurrent fractur...	OMIM:610967
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypop...	OMIM:184250
Desbuquois Dysplasia 1	Joint dislocation, Triangular shaped phalanges of the hand, Osteoarthritis, Metaphyseal widening,...	OMIM:251450
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Recurrent upper respiratory tract infections,...	OMIM:607143
Spondylometaphyseal Dysplasia, Kozlowski Type	Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv...	OMIM:184252
Femoral-Facial Syndrome	Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal rib morphology, Rib fusion, Coxa ...	ORPHA:1988
Alagille Syndrome	Peripheral pulmonary artery stenosis, Hypoplasia of the ulna, Micrognathia, Abnormal rib morpholo...	ORPHA:52
Spondylometaphyseal Dysplasia, X-Linked	Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger...	OMIM:313420
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Abnormal number of incisors, Coxa valga, Osteoporosis, Finger clinodactyly, Patellar subluxation,...	ORPHA:2958
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Autosomal Dominant Spondylocostal Dysostosis	Recurrent respiratory infections, Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morpho...	ORPHA:1797
Spastic Paraplegia 18B, Autosomal Recessive	Kyphosis, Ankle clonus, Scoliosis, Joint contracture, Pes cavus	OMIM:611225
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi...	ORPHA:85165
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat...	ORPHA:239
Juberg-Hayward Syndrome	Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m...	ORPHA:2319
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Toe clinodactyly, Wormian bones...	ORPHA:166277
Bruck Syndrome 1	Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Osteopor...	OMIM:259450
Spondyloepiphyseal Dysplasia, Stanescu Type	Stiff neck, Kyphoscoliosis, Joint stiffness, Hypoplastic ilia, Coxa valga, Vertebral wedging, Pla...	OMIM:616583
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Platyspondyly, Flared, irregular rib ends, S...	ORPHA:168555
Lowry-Maclean Syndrome	Osteopenia, Single transverse palmar crease, Craniosynostosis, Delayed eruption of primary teeth,...	ORPHA:2409
Mucopolysaccharidosis, Type Iva	Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar...	OMIM:253000
Osteopathia Striata-Cranial Sclerosis Syndrome	Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub...	ORPHA:2780
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Kyphosis, Short metatarsal, Small hand, Short foot, Narrow chest, S...	OMIM:180870
Craniosynostosis 2	Cleft soft palate, Craniosynostosis, Unicoronal synostosis, Supernumerary tooth, Triphalangeal th...	OMIM:604757
Spondyloepiphyseal Dysplasia Tarda	Back pain, Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux...	ORPHA:93284
Arthrogryposis, Distal, Type 3	Decreased hip abduction, Congenital hip dislocation, Camptodactyly of finger, Down-sloping should...	OMIM:114300
Lethal Congenital Contracture Syndrome 1	Micrognathia, Abnormal thorax morphology, Pulmonary hypoplasia, Neonatal death, Arthrogryposis mu...	OMIM:253310
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Lateral clavicle hook, Hypoplasia of the maxilla, Thick lower lip ...	OMIM:613804
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A...	ORPHA:401942
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Hip contracture, Scapular winging, Pes planus, Hyperlordosis, Pectus excavatum, Kyphosis, Achille...	OMIM:615290
Acrodysostosis 1 With Or Without Hormone Resistance	Delayed eruption of teeth, Mandibular prognathia, Short metacarpal, Brachydactyly, Hypoplasia of ...	OMIM:101800
Autosomal Dominant Brachyolmia	Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly, Abnormal metaphysis morp...	ORPHA:93304
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Wormian bones, Beaded ribs, Mu...	OMIM:616897
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Marshall Syndrome	Abnormality of the dentition, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Thick lowe...	ORPHA:560
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Oligodontia, High palat...	OMIM:224300
Schinzel-Giedion Syndrome	Respiratory distress, Abnormal clavicle morphology, Micrognathia, Abnormality of the gingiva, Tib...	ORPHA:798
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Slc35A2-Cdg	Osteopenia, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Coxa valga, Metata...	ORPHA:356961
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Lumbar...	OMIM:250420
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla, Ulnar radial head dislocation	OMIM:264270
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla, Short distal phalanx of finger	OMIM:300266
Osteomesopyknosis	Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra...	ORPHA:2777
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Hip contracture, Pes planus, Hyperlordosis, Kyphosis, Elbow flexion contracture, Knee flexion con...	OMIM:600175
Apert Syndrome	Delayed eruption of teeth, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndact...	ORPHA:87
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Micrognathia, Recurrent patellar dislocation, Capitate-hamate...	OMIM:614078
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Bilateral single transverse palmar creases, Proximal placement of thumb, Abnorm...	ORPHA:1120
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarpals, Thoraci...	OMIM:300232
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Abnormal foot morphology, Oligodontia, A...	ORPHA:2095
Rhizomelic Syndrome, Urbach Type	Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnormality of the humerus, Wid...	ORPHA:3098
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Pectus excavatum, Hand polydactyly, Foot pol...	OMIM:258860
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Barrel...	ORPHA:94068
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ...	OMIM:607323
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Clinodactyly, Micrognathia	ORPHA:357175
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Thin bony cortex, Rhizomelia, Femoral bowing, Thoracic kyphosis, Wormian bones, Short...	OMIM:619638
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Osteopenia, Joint laxity, Hallux valgus, Contracture of the proximal interphalangeal joint of the...	OMIM:130060
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Kuskokwim Syndrome	Abnormal clavicle morphology, Talipes, Aplasia/Hypoplasia of the patella, Joint stiffness, Abnorm...	ORPHA:1149
Thoracomelic Dysplasia	Short neck, Hyperlordosis, Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shape...	ORPHA:1803
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal rib morpholog...	ORPHA:2145
Dysspondyloenchondromatosis	Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Generalized joint laxity, Abnormal fibula m...	ORPHA:85198
Osteogenesis Imperfecta, Type Vii	Osteopenia, Micromelia, Bowing of the legs, Multiple prenatal fractures, Coxa vara, Narrow chest,...	OMIM:610682
Anauxetic Dysplasia 3	Short metacarpal, Thoracolumbar kyphoscoliosis, Pectus excavatum, Wide anterior fontanel, Hip sub...	OMIM:618853
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Wide dist...	OMIM:614856
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t...	ORPHA:246
Otopalatodigital Syndrome Type 1	Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb...	ORPHA:90650
Cleidocranial Dysplasia 1	Respiratory distress, Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, ...	OMIM:119600
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Mucolipidosis Iii Gamma	Abnormality of the hand, Hyperlordosis, Short neck, Joint stiffness, Kyphosis, Flat capital femor...	OMIM:252605
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Recurrent fractures, Craniosynostosis, Joint stiffness, ...	ORPHA:83
Distal Xq28 Microduplication Syndrome	Short lingual frenulum, Dental crowding, Epistaxis, Hypoplasia of the maxilla, Metatarsus adductu...	ORPHA:293939
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Absent frontal sinuses, Femor...	OMIM:311300
Osteogenesis Imperfecta, Type Xviii	Joint laxity, Thin bony cortex, Bowing of the long bones, Recurrent fractures, Abnormality of the...	OMIM:617952
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Short neck, Limited knee flexion, Microgna...	OMIM:258315
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Pectus excavatum, Osteoporosis, Ankle clonus, Scoliosis, Lamb...	OMIM:615398
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Joint dislocation, Camptodactyly of finger, Tapered finger, Aplasia/Hypoplasia of the distal phal...	ORPHA:3201
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Enlarged joints, Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow extension,...	ORPHA:156728
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type	Abnormal metatarsal morphology, Aplasia/hypoplasia of the extremities, Delayed epiphyseal ossific...	ORPHA:93360
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Clinodactyly, Micrognathia	OMIM:615162
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Pectus excavatum, S...	OMIM:263750
Thanatophoric Dysplasia	Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Joint ...	ORPHA:2655
Mosaic Trisomy 14	Camptodactyly of finger, Micrognathia, Lower limb asymmetry, Abnormal rib morphology, Cleft palat...	ORPHA:1703
Mucopolysaccharidosis, Type Ix	Acetabular erosions, Submucous cleft hard palate, Periarticular soft-tissue mass, Synovitis, Hype...	OMIM:601492
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S...	OMIM:218600
Scheuermann Disease	Kyphosis, Morbus Scheuermann	OMIM:181440
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis	OMIM:300434
Achondrogenesis, Type Ii	Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S...	OMIM:200610
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Joint laxi...	OMIM:612350
Eiken Syndrome	Delayed epiphyseal ossification, Eruption failure, Oligodontia, Pseudoepiphyses, Delayed tarsal o...	OMIM:600002
Weill-Marchesani Syndrome 1	Joint stiffness, Hypoplasia of the maxilla, Broad metatarsal, Broad palm, Narrow palate, Broad ph...	OMIM:277600
Intellectual Developmental Disorder, X-Linked 82	Kyphosis, Scoliosis	OMIM:300518
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Sacral dimple, Bilateral single transverse palmar creases, Camptodactyly of fi...	ORPHA:2633
Cerebrofacioarticular Syndrome	Osteopenia, Irregular dentition, Anal stenosis, Syndactyly, Micrognathia, Hypoplasia of the maxil...	ORPHA:314679
Spondylocostal Dysostosis 2, Autosomal Recessive	Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vert...	OMIM:608681
Tetrasomy 5P	Respiratory distress, Cyanosis, Overlapping toe, Short hallux, Micrognathia, Pectus excavatum, Wi...	ORPHA:3309
Cerebrocostomandibular Syndrome	Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Glossoptosis, High palate, Clin...	OMIM:117650
Mucopolysaccharidosis Type 4	Joint dislocation, Bowing of the long bones, Abnormal dental enamel morphology, Grayish enamel, A...	ORPHA:582
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
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Calvarial osteosclerosis, Cleft soft palate, Gingival...	OMIM:616331
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers	Tapered finger, Pectus excavatum, Kyphosis, Pectus carinatum, Large hands, Scoliosis	ORPHA:276630
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Micrognathia, Hypoplasia of the maxilla, High palate, Na...	OMIM:213980
Zimmermann-Laband Syndrome 3	Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Absent distal phalan...	OMIM:618658
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no...	OMIM:250220
Neurodegeneration And Seizures Due To Copper Transport Defect	Short femur, Pneumothorax, Talipes equinovarus, Pulmonary hypoplasia, Short tibia	OMIM:620306
Phaver Syndrome	Broad hallux phalanx, Camptodactyly of finger, Joint stiffness, Short thumb, Abnormal rib morphol...	ORPHA:2876
Dislocation Of The Hip-Dysmorphism Syndrome	Abnormality of the knee, Prominence of the premaxilla, Congenital hip dislocation, Abnormality of...	ORPHA:2412
Rapp-Hodgkin Syndrome	Syndactyly, Cleft upper lip, Conical tooth, Carious teeth, Velopharyngeal insufficiency, Small, c...	OMIM:129400
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of th...	ORPHA:2502
Frontometaphyseal Dysplasia 1	Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses, Knee flexion contractur...	OMIM:305620
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Cleft palate, Clinodactyly, Short distal phalanx of finger, Brachydactyly	OMIM:614261
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo...	ORPHA:2496
Stuve-Wiedemann Syndrome 2	Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth...	OMIM:619751
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Short metatarsal, Br...	ORPHA:1278
Spondylospinal Thoracic Dysostosis	Arthrogryposis multiplex congenita, Short thorax, Pulmonary hypoplasia, Micrognathia	OMIM:601809
Nablus Mask-Like Facial Syndrome	Smooth philtrum, Thin upper lip vermilion, Sandal gap, Single transverse palmar crease, Craniosyn...	OMIM:608156
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short metacarpal, Brachydactyly, Short toe, Split hand, Short tibia, Finger symphalangism, Contra...	OMIM:612576
Achondroplasia	Rhizomelia, Hip joint hypermobility, Bowing of the legs, Wide anterior fontanel, Short proximal p...	ORPHA:15
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Micrognathia, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the vertebral bo...	ORPHA:73230
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Broad hallux, Single transverse palmar crease, Micrognathia, Wide anteri...	OMIM:614541
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Lateral clavicle hook, Adv...	OMIM:269250
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Osteopenia, Hallux valgus, Micrognathia, Pectus carinatum, High palate, Broad thumb, Clinodactyly...	OMIM:620194
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Decreased calvarial o...	OMIM:618265
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Micrognathia, Dyspnea, Large fontanelles, Gingival fibromatosis, Gingival o...	ORPHA:1832
Pycnodysostosis	Increased bone mineral density, Persistent open anterior fontanelle, Delayed eruption of primary ...	OMIM:265800
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, To...	ORPHA:2863
Crouzon Syndrome	Hypoplasia of the maxilla, Respiratory insufficiency, Narrow palate, Multiple suture craniosynost...	ORPHA:207
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa...	ORPHA:249
Branchioskeletogenital Syndrome	Mandibular prognathia, Amelia involving the lower limbs, Thoracolumbar kyphoscoliosis, Craniosyno...	ORPHA:1299
Mandibulofacial Dysostosis-Microcephaly Syndrome	Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Clef...	ORPHA:79113
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Syndactyly, Toe syndactyly, Pulmonary hypoplasia, Clinodactyly of the 5th finger, Decreased skull...	OMIM:601163
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Weill-Marchesani Syndrome 2	Short metacarpal, Joint stiffness, Hypoplasia of the maxilla, Broad metatarsal, Elbow flexion con...	OMIM:608328
X-Linked Hypophosphatemia	Beaded ribs, Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles,...	ORPHA:89936
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Osteopenia, Arthropathy, Long clavicles, Pectus excavatum, Limitation of joint mobility, Osteopor...	OMIM:259100
Acro-Renal-Ocular Syndrome	Vertebral fusion, Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly...	ORPHA:959
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Progressive Pseudorheumatoid Dysplasia	Enlarged epiphyses, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joi...	OMIM:208230
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Miscarriage, Micromelia, Short neck, Bowing of the legs, Hypoplastic ilia, Hypo...	ORPHA:1865
Renpenning Syndrome	Mandibular prognathia, Macrodontia, Joint stiffness, Pectus excavatum, High, narrow palate, Abnor...	ORPHA:3242
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Abnormality of the philtrum, Micromelia...	ORPHA:1597
Bruck Syndrome 2	Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s...	OMIM:609220
Osteofibrous Dysplasia, Susceptibility To	Pectus excavatum, Pathologic fracture, Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Irregular vertebral ...	OMIM:187760
Bruck Syndrome	Bowing of the long bones, Recurrent fractures, Joint stiffness, Osteoporosis, Respiratory insuffi...	ORPHA:2771
Orofaciodigital Syndrome Xviii	Brachydactyly, Sandal gap, Single transverse palmar crease, Accessory oral frenulum, Postaxial po...	OMIM:617927
Myopathic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Flexion contracture, Knee flexion contracture, Congeni...	ORPHA:536516
Cutis Laxa, Autosomal Recessive, Type Iib	Osteopenia, Bowing of the long bones, Congenital hip dislocation, Prominent superficial veins, Pe...	OMIM:612940
Acrofacial Dysostosis, Cincinnati Type	Micrognathia, Hypoplasia of the maxilla, Cleft palate, Femoral bowing, Flared lower limb metaphys...	OMIM:616462
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Cleft upper lip, Conical tooth, Hypoplasia of the maxilla, 2-3 toe synd...	OMIM:106260
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Craniosynostosis, 1-3 toe syndactyly, Preaxial hand polydacty...	OMIM:175700
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Mucopolysaccharidosis, Type Ivb	Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Joint laxity,...	OMIM:253010
Oculofaciocardiodental Syndrome	Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio...	ORPHA:2712
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A...	ORPHA:971
Becker Nevus Syndrome	Micromelia, Lower limb asymmetry, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusi...	ORPHA:64755
Robinow Syndrome, Autosomal Recessive 2	Brachydactyly, Broad hallux, Cleft soft palate, Sandal gap, Abnormality of the dentition, Microgn...	OMIM:618529
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Prominent superficial veins, Decreased adipose tissue around neck, Dent...	OMIM:608612
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Short thorax, Limitation of joint mobility, Aplasia/Hypoplasia of the lungs...	ORPHA:93274
Desbuquois Dysplasia 2	Dental crowding, Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Knee di...	OMIM:615777
Congenital Arthrogryposis With Anterior Horn Cell Disease	Rocker bottom foot, Single transverse palmar crease, Short neck, Micrognathia, Kyphosis, Hip dysp...	OMIM:611890
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Hypoplastic iliac wing, Broad r...	OMIM:139210
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Crumpled long bones, Metaphyseal widening, Osteoporosis, Increased susc...	ORPHA:2788
Campomelia, Cumming Type	Death in infancy, Abnormally ossified vertebrae, Bowing of the long bones, Prematurely aged appea...	ORPHA:1318
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Cutaneous syn...	OMIM:236500
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa...	ORPHA:1860
Restrictive Dermopathy 2	Microretrognathia, Respiratory distress, Cyanosis, Rectal prolapse, Hypoplastic facial bones, Ove...	OMIM:619793
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Aglossia, Malar flattening, Coronal cranios...	OMIM:241310
Fibrochondrogenesis 2	Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti...	OMIM:614524
Microcephalic Primordial Dwarfism, Toriello Type	Recurrent respiratory infections, Abnormal rib morphology, Abnormal epiphysis morphology, Brachyd...	ORPHA:2643
White Forelock With Malformations	Finger syndactyly, Deep philtrum, Abnormal rib morphology, Joint hyperflexibility, Clinodactyly o...	ORPHA:2475
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Arachnodactyly, Long palm, Missing ribs, Abnormal rib morpholog...	ORPHA:2759
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Andersen-Tawil Syndrome	Joint laxity, Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Persistence...	ORPHA:37553
Cole-Carpenter Syndrome 2	Osteopenia, Microretrognathia, Wide cranial sutures, Recurrent fractures, Pectus excavatum, Thin ...	OMIM:616294
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu...	ORPHA:3210
Cofs Syndrome	Death in infancy, Prominent metopic ridge, Camptodactyly of finger, Talipes, Micrognathia, Joint ...	ORPHA:1466
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S...	OMIM:615503
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Trichorhinophalangeal Syndrome, Type Iii	Osteopenia, Thin upper lip vermilion, Short palm, Short metacarpal, Dental crowding, Avascular ne...	OMIM:190351
Bartsocas-Papas Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Hypoplastic iliac wing, Pterygium, ...	OMIM:263650
Stickler Syndrome	Joint dislocation, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis, Pectus carinatum, Red...	ORPHA:828
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Coffin-Siris Syndrome 6	Micrognathia, Pectus excavatum, High, narrow palate, Deep philtrum, Cleft palate, Short philtrum,...	OMIM:617808
Autosomal Recessive Spondylocostal Dysostosis	Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt...	ORPHA:2311
Choanal Atresia	Respiratory distress, Cyanosis, Craniosynostosis, Upper airway obstruction, Polydactyly, Tracheom...	ORPHA:137914
Pallister-Hall-Like Syndrome	Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo...	OMIM:241800
Smith-Mccort Dysplasia 2	Barrel-shaped chest, Mandibular prognathia, Short metacarpal, Enlarged interphalangeal joints, Pe...	OMIM:615222
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Carious teeth, Thin clavicles, Small ...	OMIM:244460
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Hypoplasia of the maxilla, Malar flattening, Hip dislocation, Coxa valga	OMIM:109120
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal...	ORPHA:90652
Congenital Muscular Dystrophy, Ullrich Type	Long toe, Short neck, Spinal rigidity, Kyphosis, Micrognathia, Flexion contracture, Elbow flexion...	ORPHA:75840
Borjeson-Forssman-Lehmann Syndrome	Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin...	OMIM:301900
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Exaggerated median tongue furrow, Thoracic kyphoscoliosis, Dental crowding, 2-3...	ORPHA:313892
Distal Duplication 5Q	Hypoplasia of the ulna, Craniosynostosis, Absent thumb, Micrognathia, Hypoplasia of the radius, B...	ORPHA:96097
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Micrognathia, Submucous cleft hard palate, Flexion contrac...	OMIM:222765
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Hypophosphatasia, Infantile	Death in infancy, Apnea, Craniosynostosis, Abnormality of the dentition, Bowing of the legs, Micr...	OMIM:241500
Vitamin D-Dependent Rickets, Type 3	Osteopenia, Bowing of the legs, Flared metaphysis, Metaphyseal cupping, Genu varum	OMIM:619073
Brachyolmia Type 3	Barrel-shaped chest, Short neck, Kyphosis, Proximal femoral metaphyseal irregularity, Platyspondy...	OMIM:113500
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Micrognathia, Metatarsus valgus, Apl...	ORPHA:3082
Rubinstein-Taybi Syndrome 1	Respiratory distress, Plantar crease between first and second toes, Dental crowding, Single trans...	OMIM:180849
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Micrognathia, Asthma, Tachypnea, Pneumothorax, Pa...	ORPHA:2257
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Pulmonary hypoplasia	OMIM:615228
Ulna Metaphyseal Dysplasia Syndrome	Abnormal dental morphology, Abnormal morphology of ulna, Abnormality of the dentition, Abnormal f...	ORPHA:1837
Spondyloepimetaphyseal Dysplasia, Shohat Type	Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,...	OMIM:602557
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Microretrognathia, Hypoplasia of the maxilla, Thick vermilion border, Long philtrum, Clinodactyly...	ORPHA:228396
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl...	ORPHA:2919
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Micrognathia, Bowing of the legs, Deep philtrum, Metaphys...	OMIM:255800
Seckel Syndrome 1	Dental crowding, Selective tooth agenesis, Abnormal finger flexion crease, Micrognathia, Single t...	OMIM:210600
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:95717
Cooper-Jabs Syndrome	Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Resp...	ORPHA:1488
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ...	OMIM:184100
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Anisospondyly, Micrognathia, Short long bone, Talipes equin...	OMIM:224410
Frontorhiny	Camptodactyly of finger, Hypoplasia of the maxilla, Hypoplastic frontal sinuses, Cleft palate, Fi...	ORPHA:391474
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr...	OMIM:312150
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Thin upper lip vermilion, Smooth philtrum, Widely-spaced incisors	OMIM:618737
Blomstrand Lethal Chondrodysplasia	Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ...	ORPHA:50945
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Large posterior fontanelle, Abnormal dental morphology, Tarsal syno...	ORPHA:85199
Ehlers-Danlos Syndrome, Classic Type, 1	Joint dislocation, Hyperextensibility of the finger joints, Pes planus, Poor wound healing, Hyper...	OMIM:130000
Cole-Carpenter Syndrome	Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ...	ORPHA:2050
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Single transverse palmar crease, Short neck, Kyphosis, Flexion contracture, Bell-shaped thorax, S...	ORPHA:178148
Alpha-Mannosidosis	Craniofacial hyperostosis, Recurrent respiratory infections, Bowing of the long bones, Short neck...	ORPHA:61
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Prominent superficial veins, Pseudoepiphyses of the metacar...	OMIM:618150
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Kyphosis, Upper limb amyotrophy, Talipes equinovarus, Scoliosis, Pes cavus	OMIM:617087
Frank-Ter Haar Syndrome	Osteopenia, Micrognathia, High palate, Short palm, Short phalanx of finger, Cortical irregularity...	OMIM:249420
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Cleft soft palate, Rocker bottom foot, Micrognathia, Pectus excav...	OMIM:606851
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Cleft soft palate, Accessory oral frenulum, Type A brachydactyly, C...	OMIM:620107
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micrognathia, Micromeli...	ORPHA:440354
Tarp Syndrome	Apnea, Single transverse palmar crease, Micrognathia, Glossoptosis, Finger syndactyly, Widely pat...	ORPHA:2886
Renal Hypodysplasia/Aplasia 4	Pulmonary hypoplasia	OMIM:619887
Radio-Renal Syndrome	Micromelia, Short neck, Micrognathia, Hypoplasia of the radius, Abnormal rib morphology, Abnormal...	ORPHA:3015
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Hypo...	OMIM:225500
Coffin-Siris Syndrome 11	Prominent metopic ridge, Cleft soft palate, Esophageal atresia, Small hand, Downturned corners of...	OMIM:618779
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hypoplastic ischia, Micrognathia, Pectus carinatum, Knee flexion contracture, Oligodontia, High p...	OMIM:210730
Renal Hypodysplasia/Aplasia 2	Pulmonary hypoplasia	OMIM:615721
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia...	OMIM:613390
Treacher-Collins Syndrome	Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Abnormality of bone mineral d...	ORPHA:861
Loeys-Dietz Syndrome 5	Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate, Bilateral coxa valga, ...	OMIM:615582
Stickler Syndrome, Type I	Arthropathy, Arachnodactyly, Joint stiffness, Pectus excavatum, Micrognathia, Osteoarthritis, Sub...	OMIM:108300
Osteogenesis Imperfecta, Type I	Osteopenia, Otosclerosis, Recurrent fractures, Increased susceptibility to fractures, Femoral bow...	OMIM:166200
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious...	OMIM:617102
Dental Anomalies And Short Stature	Mandibular prognathia, Hypoplasia of the maxilla, Oligodontia, Widely spaced teeth, Microdontia, ...	OMIM:601216
Pallister-Hall Syndrome	Bifid uvula, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Accessory oral frenulum, Cl...	ORPHA:672
Jackson-Weiss Syndrome	Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2...	OMIM:123150
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Singleton-Merten Syndrome 1	Osteopenia, Hypoplastic distal radial epiphyses, Hypoplasia of the maxilla, Eruption failure, Joi...	OMIM:182250
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Hypoplastic ischia, Micrognathia, Bowing of the legs, Abnormality of the...	ORPHA:313855
Pseudoleprechaunism Syndrome, Patterson Type	Abnormal limb epiphysis morphology, Metaphyseal sclerosis, Abnormal mandible condylar process mor...	ORPHA:2976
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Fifth finger distal phalanx clinodactyly, Metopic suture patent to nasal root, Premature posterio...	ORPHA:3369
Elsahy-Waters Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Anteriorly placed anus, Cutaneous finger syndac...	OMIM:211380
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Lateral ...	ORPHA:3144
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Abnormal finger morphology, Symphalangism affecting t...	ORPHA:2658
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Barrel-shaped chest, Recurrent fractures, Metaphyseal widening, Osteoporosis, Increas...	OMIM:259770
Isolated Klippel-Feil Syndrome	Short neck, Abnormal sacrum morphology, Abnormal rib morphology, Abnormal shoulder morphology, Ab...	ORPHA:2345
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Short neck, Micrognathia, Humeroradial synostosis, Abnormal rib ...	ORPHA:3404
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Diffuse palmoplantar hyperkeratosis, Acrocyanosis	ORPHA:86918
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Apnea, Micrognathia, Craniofacial osteosclerosis, Osteopathia striata, High pala...	OMIM:300373
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin upper lip vermilion, Syndactyly, Brachydactyly, Cutis marmorata, Intestinal malrotation, Sin...	OMIM:614701
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Micrognathia...	ORPHA:2522
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Recurrent respiratory infections, Pectus excavatum, Reduced bone mineral density, Long fibula, Ab...	ORPHA:935
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Cutis marmorata, Coxa valga, Pectus excavat...	OMIM:614753
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Multiple Pterygium Syndrome, Lethal Type	Vertebral fusion, Abnormal cervical curvature, Micrognathia, Flexion contracture, Thin ribs, Incr...	OMIM:253290
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Tibial metaphyseal irregularity,...	ORPHA:457395
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Absent in utero...	OMIM:608022
Waardenburg Syndrome Type 3	Tented upper lip vermilion, Camptodactyly of finger, Joint stiffness, Abnormal finger morphology,...	ORPHA:896
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges...	OMIM:601356
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Downturned corners of mouth, Sh...	OMIM:601224
Craniosynostosis And Dental Anomalies	Delayed eruption of teeth, Mandibular prognathia, Hallux valgus, Prominent metopic ridge, Dental ...	OMIM:614188
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, A...	OMIM:619797
Mandibulofacial Dysostosis With Alopecia	Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hypoplasia of the maxilla, Tris...	OMIM:616367
Orofaciodigital Syndrome Type 2	Apnea, Micrognathia, Tachypnea, Finger clinodactyly, High palate, Short tibia, Finger syndactyly,...	ORPHA:2751
Chst3-Related Skeletal Dysplasia	Barrel-shaped chest, Short metacarpal, Rhizomelia, Kyphoscoliosis, Flexion contracture, Abnormali...	ORPHA:263463
Mucopolysaccharidosis Type 6	Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Joint stiffness, Kyphosis, Recurrent up...	ORPHA:583
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Craniosynostosis, Micrognathia, Ankle flexion contracture, Knee flexion c...	ORPHA:284417
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Trichorhinophalangeal Syndrome, Type I	Osteopenia, Micrognathia, Osteoarthritis, Deep philtrum, Short metatarsal, Pectus carinatum, Cone...	OMIM:190350
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor	Sacral dimple, Pulmonary cyst, Micrognathia, Pectus excavatum, Kyphosis	OMIM:618272
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Spontaneous neonatal pneumothorax, Frontal open bite, Micrognathia, Del...	OMIM:225410
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Long foot, Abnormal thumb morphology, Metatarsus adductus, Tibial bowing, Macroglossia, Large han...	ORPHA:500095
Crouzon Syndrome	Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hig...	OMIM:123500
Hall-Riggs Syndrome	Metaphyseal dysplasia, Kyphosis, Osteoporosis, Irregular vertebral endplates, Platyspondyly, Scol...	OMIM:234250
X-Linked Intellectual Disability, Sutherland-Haan Type	Mandibular prognathia, Hypoplasia of the maxilla, Anal atresia	ORPHA:93950
Xylt1-Cdg	Joint laxity, Pes planus, Joint dislocation, Coxa valga, Flared metaphysis, Cleft palate, Short l...	ORPHA:370930
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Recurrent fractures, Short neck, Micrognathia, Kyphosis,...	ORPHA:3409
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Short neck, Micrognathia, Metaphyseal widening, Flexion contracture,...	OMIM:263210
Uruguay Faciocardiomusculoskeletal Syndrome	Hallux valgus, Congenital hip dislocation, Limited elbow movement, Retrognathia, Broad palm, Thic...	OMIM:300280
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in infancy, Pulmonary hypoplasia, Death in childhood	OMIM:614096
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala...	ORPHA:1506
Cleft Palate, Deafness, And Oligodontia	Oligodontia of primary teeth, Sandal gap, Cleft soft palate, Short hallux, No permanent dentition	OMIM:216300
Occipital Horn Syndrome	Osteopenia, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large iliac win...	ORPHA:198
Fetal Encasement Syndrome	Bilateral trilobed lung, Upper limb undergrowth, Lower limb undergrowth	OMIM:613630
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downturned corners of mouth, Advanced eruption of teeth, Prominence of the zygomatic bone, Finger...	ORPHA:2215
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon...	OMIM:605282
Apert Syndrome	Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,...	OMIM:101200
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Abnormality of the vert...	OMIM:314390
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Prominent superficial veins, Femur fracture, Delayed eruptio...	OMIM:619322
Arthrogryposis, Distal, Type 4	Osteopenia, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Equinovarus deformi...	OMIM:609128
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Kyphosis, Hip dysplasia, Pectus carinatum	OMIM:620007
Ck Syndrome	Hyperlordosis, Micrognathia, Kyphosis, Scoliosis, Abnormal cortical bone morphology, Abnormal dig...	OMIM:300831
Myasthenic Syndrome, Congenital, 25, Presynaptic	Spinal rigidity, Kyphosis, Flexion contracture, Scoliosis, Joint hypermobility	OMIM:618323
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Multiple prenatal fractures, Pectus excavatum, Pectus carinatum, Decreased calvarial ossification...	OMIM:259410
Distal Deletion 19P	Long toe, Arachnodactyly, Hypoplasia of the maxilla, Cleft palate, Joint hyperflexibility, Short ...	ORPHA:96129
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Cyanosis, Talipes, Postaxial polydactyly...	OMIM:619879
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Stiff neck, Overlapping fingers, Short neck, Micrognathia, Femoral bowing, Sh...	OMIM:617022
Osteogenesis Imperfecta, Type Iv	Otosclerosis, Recurrent fractures, Reduced bone mineral density, Increased susceptibility to frac...	OMIM:166220
Horizontal Gaze Palsy With Progressive Scoliosis	Kyphosis, Scoliosis, Short neck	ORPHA:2744
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh...	ORPHA:2302
Peters-Plus Syndrome	Short lingual frenulum, Single transverse palmar crease, Limited elbow movement, Micrognathia, Hy...	OMIM:261540
Schwartz-Jampel Syndrome	Apnea, Micromelia, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flexion contract...	ORPHA:800
Solitary Bone Cyst	Abnormal tibia morphology, Abnormal pubic bone morphology, Unicameral bone cyst, Lytic defects of...	ORPHA:83468
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Rib fusion, Hemivertebrae, Unilateral brachydactyly, Short r...	OMIM:173800
Sandhoff Disease	Kyphosis, Recurrent respiratory infections	ORPHA:796
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, Hyperextensibility of the finger joints, Micrognathia, Knee flexion contra...	OMIM:151050
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Aspiration pneumonia	ORPHA:99772
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Tapered finger, Long fingers, Thick lower lip vermilion, Joint contracture of the 5th finger, Lon...	OMIM:614407
Presynaptic Congenital Myasthenic Syndromes	Joint laxity, Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Int...	ORPHA:98914
Congenital Myasthenic Syndrome	Joint laxity, Microretrognathia, Congenital hip dislocation, Cyanosis, Sudden episodic apnea, Int...	ORPHA:590
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Rectal prolapse, Hig...	ORPHA:235
Zttk Syndrome	Craniosynostosis, Abnormality of the dentition, Hypoplasia of the maxilla, Flexion contracture, R...	OMIM:617140
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Mandibuloacral Dysplasia With Type A Lipodystrophy	Osteopenia, Reduced subcutaneous adipose tissue, Wormian bones, Dental crowding, Down-sloping sho...	OMIM:248370
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Plantar hyperkeratosis, ...	ORPHA:2909
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Mandibular prognathia, Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hi...	ORPHA:2180
Spondyloepiphyseal Dysplasia Congenita	Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Limited elbow movement, Short ...	OMIM:183900
Omodysplasia 2	Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Cleft palate, Limit...	OMIM:164745
Postsynaptic Congenital Myasthenic Syndromes	Thoracic kyphoscoliosis, Reduced vital capacity, Cyanosis, Orthopnea, Triceps weakness, Weakness ...	ORPHA:98913
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Maternal Uniparental Disomy Of Chromosome 1	Single transverse palmar crease, Talipes, Delayed closure of the anterior fontanelle, Abnormal li...	ORPHA:251009
Mucopolysaccharidosis, Type Vii	Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ...	OMIM:253220
Anauxetic Dysplasia 1	Short neck, Thoracic kyphosis, Short palm, Joint laxity, Barrel-shaped chest, Lumbar hyperlordosi...	OMIM:607095
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Clinodactyly of the 5th finger	OMIM:167730
Renal Tubular Dysgenesis	Joint hyperflexibility, Pulmonary hypoplasia, Bilateral single transverse palmar creases	ORPHA:3033
Barber-Say Syndrome	Delayed eruption of teeth, Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Veloph...	OMIM:209885
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, Neonatal deat...	OMIM:269860
Dyskeratosis Congenita	Esophageal stenosis, Telangiectasia of the skin, Recurrent fractures, Abnormality of the dentitio...	ORPHA:1775
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly	OMIM:614526
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Camptodactyly of finger, Pectus excavatum, High, narrow palate, Hypoplasia...	ORPHA:1101
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Masa Syndrome	Hyperlordosis, Kyphosis, Talipes equinovarus, Pes cavus, Adducted thumb	OMIM:303350
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,...	ORPHA:163966
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Scoliosis	OMIM:300718
Orofaciodigital Syndrome X	Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna...	OMIM:165590
Lymphangiectasia, Intestinal	Stillbirth, Prominent floating ribs	OMIM:152800
Intellectual Disability-Developmental Delay-Contractures Syndrome	Kyphosis, Limitation of joint mobility, Congenital foot contractures, Scoliosis, Clinodactyly of ...	ORPHA:3454
Intellectual Developmental Disorder, Autosomal Recessive 68	Hypoplasia of the maxilla, Pes planus	OMIM:618302
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Hypoplastic ischia, Short iliac...	ORPHA:3003
Cowden Syndrome 5	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Palmoplantar hype...	OMIM:615108
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Osteopenia, Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, N...	ORPHA:2463
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Pectus carinatum, Ar...	ORPHA:536467
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Kyphosis, Abnormality o...	ORPHA:3121
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Pulmonary hypoplasia, Neonatal death	OMIM:245650
Congenital Heart Defects And Skeletal Malformations Syndrome	Smooth philtrum, Pes planus, Dental crowding, Intestinal malrotation, Arachnodactyly, Sandal gap,...	OMIM:617602
Cutis Laxa, Autosomal Recessive, Type Iic	Joint laxity, Mandibular prognathia, Reduced subcutaneous adipose tissue, Prominent superficial v...	OMIM:617402
Myotonia With Skeletal Abnormalities And Mental Retardation	Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Pectus carinatum, Bell-shaped tho...	OMIM:255710
Spondylocostal Dysostosis 5	Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste...	OMIM:122600
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Aplasia of the pectoralis major muscle, Hemivertebra...	ORPHA:2911
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Neurodevelopmental Disorder With Poor Growth And Skeletal Anomalies	Mandibular prognathia, Hallux valgus, Swan neck-like deformities of the fingers, High, narrow pal...	OMIM:619880
Nestor-Guillermo Progeria Syndrome	Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Micro...	OMIM:614008
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o...	ORPHA:1858
Microphthalmia, Syndromic 12	Neonatal death, Pulmonary hypoplasia, Micrognathia	OMIM:615524
Cranio-Osteoarthropathy	Abnormality of the knee, Joint stiffness, Osteoarthritis, Abnormal tibia morphology, Large fontan...	ORPHA:1525
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Asthma, Clinodactyly of the 2nd finger, Wide mouth, Long philtrum, Pro...	ORPHA:251061
Menkes Disease	Joint laxity, Metaphyseal spurs, Metaphyseal widening, Osteoporosis, Death in childhood, Wormian ...	OMIM:309400
Orofaciodigital Syndrome Xvii	Prominent metopic ridge, Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow p...	OMIM:617926
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Superior rib anomalies	OMIM:307500
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Radial Ray Hypoplasia With Choanal Atresia	Short thumb, Distally placed thumb, Hypoplasia of the radius, Small thenar eminence	OMIM:179270
Congenital Disorder Of Glycosylation, Type Iig	Osteopenia, Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Glossoptosis, High...	OMIM:611209
Opsismodysplasia	Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor...	OMIM:258480
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Pseudopseudohypoparathyroidism	Delayed eruption of teeth, Short metacarpal, Osteoporosis, Short metatarsal, Enamel hypoplasia, B...	OMIM:612463
Cowden Syndrome 6	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Palmoplantar hype...	OMIM:615109
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion...	ORPHA:1145
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Cyanosis, Single transverse palmar crease, Micrognathia, 2-3 toe syndac...	ORPHA:3304
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Fibrosis Of Extraocular Muscles, Congenital, 3C	Pectus excavatum, Kyphosis	OMIM:609384
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Micrognathia, Flexion contracture, Talipes calcaneovalgus, Knee flex...	OMIM:265000
Hyperparathyroidism, Transient Neonatal	Osteopenia, Respiratory distress, Wide cranial sutures, Short femur, Recurrent fractures, Metaphy...	OMIM:618188
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Lumbar hyperlordosis, Kyphosis, Hip dislocation, Talipes equinovarus, Scoliosis	OMIM:616756
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Epiphyseal stippling, Pulmonary hypoplasia, Talipes equinovarus, Arthrogryposis...	ORPHA:86822
Hydrocephaly-Tall Stature-Joint Laxity Syndrome	Arachnodactyly, Kyphosis, Joint hyperflexibility, Shoulder dislocation, Scoliosis, Adducted thumb	ORPHA:2181
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Bowing of the legs, Delayed epiphyseal ossification, Premature osteoarthritis, Meta...	ORPHA:93352
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Prune Belly Syndrome	Recurrent respiratory infections, Congenital hip dislocation, Pectus excavatum, Abnormal rib morp...	ORPHA:2970
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, Metaphyseal widening, High palate, S...	OMIM:234100
Mucopolysaccharidosis Type 7	Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Abnormal pleura m...	ORPHA:584
Cdkl5-Deficiency Disorder	Hallux valgus, Kyphosis, Broad proximal phalanges of the hand, Scoliosis	ORPHA:505652
Intellectual Developmental Disorder, Autosomal Dominant 70	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retinal telangiectasia, Malar fla...	OMIM:620157
Cdags Syndrome	Delayed cranial suture closure, Sagittal craniosynostosis, Rectourethral fistula, Large fontanell...	OMIM:603116
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Tapered finger, Hypoplasia of the maxilla, Increased femoral anteversion, ...	OMIM:609460
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Prematurely aged appearance, Progeroid facial appearance, Ab...	ORPHA:90153
X-Linked Intellectual Disability, Porteous Type	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum	ORPHA:93945
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Camptodactyly of finger, Abnormality of the dentition, Micrognathia, Avascular ...	ORPHA:77258
Marshall-Smith Syndrome	Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal wideni...	OMIM:602535
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short metacarpal, Overlapping to...	OMIM:616723
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Missing ribs, Carious teeth, Abnor...	ORPHA:2769
Caudal Regression Syndrome	Missing ribs, Joint stiffness, Aplasia/Hypoplasia of the sacrum, Abnormal iliac wing morphology, ...	ORPHA:3027
Ullrich Congenital Muscular Dystrophy 1	Joint laxity, Spinal rigidity, Distal joint laxity, Kyphosis, Flexion contracture, Hip dislocatio...	OMIM:254090
Cutis Laxa, Autosomal Recessive, Type Iiia	Prominent superficial blood vessels, Congenital hip dislocation, Wide cranial sutures, Pectus exc...	OMIM:219150
Clark-Baraitser syndrome	Joint laxity, Genu recurvatum, Tapered finger, Kyphosis, Broad palm, Genu valgum, Scoliosis, Shor...	OMIM:300602
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate...	OMIM:119800
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Kyphoscoliosis, Kyphosis, Flexion contracture, Bilateral talipes equinovarus, Talipes equinovarus...	OMIM:618484
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, Finger clinodactyly, Pectoral m...	ORPHA:306542
Three M Syndrome 2	Delayed eruption of teeth, Scapular winging, Short thorax, Dental malocclusion, Thin ribs, Pectus...	OMIM:612921
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Abnormal morphology of the radius, Camptodactyly of finger, Abnorma...	ORPHA:3138
Severe Congenital Nemaline Myopathy	Multiple prenatal fractures, Abnormal thorax morphology, Flexion contracture, Thin ribs, Pulmonar...	ORPHA:171430
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Ovoid vertebral bodies, ...	ORPHA:85167
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Osteopenia, Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Fl...	OMIM:130070
Mandibuloacral Dysplasia Progeroid Syndrome	Osteopenia, Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Short ph...	OMIM:619127
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi...	ORPHA:93317
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Craniosynostosis, Fibular aplasia	OMIM:218550
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones, Recurrent fractures	ORPHA:2773
Marden-Walker Syndrome	Arachnodactyly, Short neck, Micrognathia, Kyphosis, Radioulnar synostosis, Congenital contracture...	OMIM:248700
Autosomal Recessive Cutis Laxa Type 2A	Pes planus, Persistent open anterior fontanelle, Congenital hip dislocation, Delayed cranial sutu...	ORPHA:357058
Congenital Myopathy 22B, Severe Fetal	Thoracic scoliosis, Short neck, Micrognathia, Flexion contracture, Scapular winging, Scoliosis, H...	OMIM:620369
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Joint laxity, Mandibular prognathia, Pes planus, Prominent metopic ridge, Arachnodactyly, Postaxi...	OMIM:619721
Zechi-Ceide Syndrome	Sandal gap, Cleft upper lip, Short metatarsal, Cleft palate, Oligodontia, Malar flattening, Long ...	OMIM:612916
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Micromelia, Micrognathia, Osteoarthritis, Flexion contra...	ORPHA:666
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Short thumb, Abnormal thorax morphology, Abnormal lu...	ORPHA:1708
Arthrogryposis, Distal, Type 5	Arachnodactyly, Decreased palmar creases, Limited wrist extension, Pectus excavatum, Kyphosis, Ab...	OMIM:108145
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Missing ribs, Micrognathia, Abnormal lung lobation, Abnormal rib m...	ORPHA:3301
Dravet Syndrome	Pes planus, Pes valgus, Limited knee extension, Cyanotic episode, Tibial torsion	ORPHA:33069
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva...	ORPHA:2772
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:95716
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Single transverse palmar crease, Micrognathia, Downturned corn...	OMIM:619297
Cortical Dysplasia, Complex, With Other Brain Malformations 9	Bilateral talipes equinovarus, Pulmonary hypoplasia	OMIM:618174
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Overlapping fingers, Femu...	OMIM:618291
Cowden Syndrome 1	Colonic diverticula, Micrognathia, Pectus excavatum, Hypoplasia of the maxilla, Palmoplantar hype...	OMIM:158350
Aspergillosis	Osteomyelitis, Pneumonia, Hypersensitivity pneumonitis, Abnormal rib morphology, Bronchiectasis, ...	ORPHA:1163
Gomez-Lopez-Hernandez Syndrome	Craniosynostosis, Wide anterior fontanel, Thin vermilion border, High palate, Wormian bones, Mala...	OMIM:601853
3Mc Syndrome 2	Prominence of the premaxilla, Craniosynostosis, Limited elbow movement, Cleft upper lip, Hip disl...	OMIM:265050
Craniolenticulosutural Dysplasia	Osteopenia, Joint laxity, Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Delaye...	OMIM:607812
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Mandibuloacral Dysplasia	Dental crowding, Increased subcutaneous truncal adipose tissue, Micrognathia, Abnormal tongue mor...	ORPHA:2457
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Craniofacial hyperostosis, Limitation of joint mobility, Abnormal rib morphology, Tracheoesophage...	ORPHA:3068
Impaired Intellectual Development, Anterior Maxillary Protrusion, And Strabismus	Joint laxity, Dental crowding, Open bite, Hyperplasia of the maxilla	OMIM:613671
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Clubbing, R...	OMIM:265120
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Clubbing, Inspiratory crackles, Hypoxemia, Restrictive ventilatory ...	OMIM:610910
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Osteopenia, Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involvin...	ORPHA:371428
Typical Nemaline Myopathy	Short neck, Pectus excavatum, Hyperlordosis, Kyphosis, Flexion contracture, Spinal rigidity, Hip ...	ORPHA:171436
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula...	OMIM:252600
Cranioectodermal Dysplasia 1	Single transverse palmar crease, High, narrow palate, Ectodermal dysplasia, High palate, Narrow c...	OMIM:218330
Raine Syndrome	Mandibular prognathia, Micromelia, Micrognathia, High palate, Microdontia, Neonatal death, Long h...	OMIM:259775
Osteogenesis Imperfecta, Type Xi	Osteopenia, Joint laxity, Recurrent fractures, Protrusio acetabuli, Coxa vara, Increased suscepti...	OMIM:610968
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Neonatal wrinkled skin of hands and feet, Coxa vara, High...	OMIM:278250
Trisomy 13	Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ...	ORPHA:3378
Difference Of Sex Development-Intellectual Disability Syndrome	Short neck, Kyphosis, Short thorax, Reduced bone mineral density, Genu valgum, Spina bifida occulta	ORPHA:2983
Autosomal Recessive Spastic Paraplegia Type 53	Joint hyperflexibility, Kyphosis, Upper limb hypertonia, Pectus carinatum	ORPHA:319199
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Axial Mesodermal Dysplasia Spectrum	Abnormality of the knee, Short neck, Missing ribs, Micrognathia, Abnormal rib morphology, Abnorma...	ORPHA:1834
Frank-Ter Haar Syndrome	Genu recurvatum, Camptodactyly of finger, Joint stiffness, Kyphosis, Osteolysis, Scoliosis, Abnor...	ORPHA:137834
Brachydactyly, Type E2	Delayed eruption of teeth, Short metacarpal, Short metatarsal, Oligodontia, Brachydactyly	OMIM:613382
Recon Progeroid Syndrome	Joint laxity, Prominence of the premaxilla, Dental crowding, Arachnodactyly, Proximal placement o...	OMIM:620370
Contractural Arachnodactyly, Congenital	Osteopenia, Short neck, Micrognathia, Knee flexion contracture, Pectus carinatum, Wrist flexion c...	OMIM:121050
Short Stature-Micrognathia Syndrome	Joint laxity, Rhizomelia, Micrognathia, Bowing of the legs, Coxa valga, Metaphyseal widening, 2-3...	OMIM:617164
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Macroglossia, Wormian bones, Congenital hip dislocation	OMIM:614450
Primrose Syndrome	Hypoplasia of the maxilla, Flexion contracture, Knee flexion contracture, Reduced bone mineral de...	OMIM:259050
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Brachydactyly, Metaphyseal dysplasia, Death in infancy, Single transverse p...	OMIM:617425
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Single transverse palmar crease, Micrognathia, Generaliz...	ORPHA:536471
Noonan Syndrome 13	Joint laxity, Pes planus, Prominent metopic ridge, Overlapping toe, Micrognathia, Tapered finger,...	OMIM:619087
Congenital Pseudoarthrosis Of The Clavicle	Congenital pseudoarthrosis of the clavicle, Cervical ribs	ORPHA:66630
Gm1-Gangliosidosis, Type Iii	Kyphosis, Flared iliac wing, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae, Hypo...	OMIM:230650
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Finger syndactyly, Toe syndactyly, Lip pit, Joint stiffness, Micrognath...	ORPHA:1300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Camptodactyly of finger, Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Abnormality of the cerv...	ORPHA:48431
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Sandal gap, Postaxial polydactyly, Hyperlordosis, Micrognathia, Kyphosis, Lower li...	OMIM:615761
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, C...	ORPHA:2636
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Fountain Syndrome	Craniofacial hyperostosis, Brachydactyly, Metaphyseal dysplasia, Pectus excavatum, Kyphosis, Abno...	ORPHA:3219
Nasopalpebral Lipoma-Coloboma Syndrome	Hypoplasia of the maxilla, Abnormality of cartilage of external ear, Clinodactyly of the 5th finger	ORPHA:2399
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Narrow greater sciatic notc...	ORPHA:508533
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Peroneal muscle weakness, Hyperlordosis, Metatarsus adductus, Kyphosis, Peronea...	OMIM:181405
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Vertebral fusion, Scapular winging, ...	OMIM:272460
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Smooth philtrum, Arachnodactyly, Sagittal craniosynostosis, Submucous cleft soft palate, Hypoplas...	ORPHA:500150
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Narrow chest, A...	ORPHA:95699
Momo Syndrome	Delayed eruption of teeth, Cutis marmorata, Thick lower lip vermilion, Dental malocclusion, Femor...	ORPHA:2563
Alg3-Cdg	Osteopenia, Metaphyseal chondrodysplasia, Abnormal limb bone morphology, Pulmonary hypoplasia, Ar...	ORPHA:79321
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif...	OMIM:610921
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Tented upper lip vermilion, Overlapping toe, Flexion contracture, Pectus ca...	OMIM:619383
Restrictive Dermopathy 1	Prominent superficial blood vessels, Micrognathia, Flexion contracture, Overtubulated long bones,...	OMIM:275210
Maternal Uniparental Disomy Of Chromosome 2	Pes planus, Miscarriage, Preaxial hand polydactyly, Respiratory infections in early life, Contrac...	ORPHA:96179
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Pulmonary hypoplasia	OMIM:619003
Hogue-Janssen Syndrome 2	Prominent metopic ridge, Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Pectus ...	OMIM:616362
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa...	OMIM:112250
Gracile Bone Dysplasia	Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Decreased skull ossification, ...	OMIM:602361
Autosomal Recessive Multiple Pterygium Syndrome	Multiple pterygia, Micrognathia, Orofacial cleft, Symphalangism affecting the phalanges of the ha...	ORPHA:2990
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Recurrent respiratory infections, Overlapping toe, Pectus excavatum, Long fingers, Cuta...	OMIM:618316
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Hypomelanosis Of Ito	Syndactyly, Kyphosis, Hand polydactyly, Radial deviation of finger, Scoliosis, Clinodactyly	OMIM:300337
Zechi-Ceide Syndrome	Mandibular prognathia, Sandal gap, Cleft lip, Short metatarsal, Cleft palate, Downturned corners ...	ORPHA:217017
Fanconi Anemia	Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Pes planus, Abnormal morphology of uln...	ORPHA:84
Myofibrillar Myopathy 10	Sandal gap, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contract...	OMIM:619040
Faciocardiomelic Syndrome	Osteopenia, Micrognathia, Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Narrow...	OMIM:612731
Lessel-Kreienkamp Syndrome	Thin upper lip vermilion, Wide cranial sutures, Dental malocclusion, Clinodactyly of the 5th fing...	OMIM:619149
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Short metatarsal, Advanced ossification of carpal bones,...	OMIM:614613
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs...	OMIM:271520
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Short 5th finger, Short distal phalanx ...	ORPHA:79445
Fg Syndrome Type 1	Dental crowding, Single transverse palmar crease, Micrognathia, Generalized joint laxity, Abnorma...	ORPHA:93932
Al-Gazali Syndrome	Osteopenia, Proximal radio-ulnar synostosis, Bowed humerus, Recurrent fractures, Micrognathia, Re...	OMIM:609465
De Barsy Syndrome	Osteopenia, Delayed eruption of teeth, Congenital hip dislocation, Progeroid facial appearance, D...	ORPHA:2962
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Rocker bottom foot, Orofacial cleft, Respiratory failure, High palate, C...	OMIM:618804
Occipital Horn Syndrome	Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Joi...	OMIM:304150
Schaaf-Yang Syndrome	Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, Small hand, Narrow palm, Short...	OMIM:615547
Fetal Akinesia Deformation Sequence	Multiple joint contractures, Camptodactyly of finger, Micrognathia, Pulmonary hypoplasia, Scolios...	ORPHA:994
Mitochondrial Complex I Deficiency, Nuclear Type 15	Neonatal death, Kyphosis, Flexion contracture	OMIM:618237
Silver-Russell Syndrome 1	Syndactyly, Micrognathia, Abnormal foot morphology, Short distal phalanx of the 5th finger, Downt...	OMIM:180860
Floating-Harbor Syndrome	Enlarged joints, Hypoplasia of the maxilla, Oligodontia, Humeral pseudarthrosis, Short philtrum, ...	ORPHA:2044
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Short hallux, Coxa valga, Osteoporosis, Wide mouth, Deep...	ORPHA:1517
Congenital Fibrinogen Deficiency	Cyanosis, Clubbing of fingers, Gingival bleeding, Volvulus, Bruising susceptibility, Subcutaneous...	ORPHA:335
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Bowing of the long bones, Apnea, Recurrent fractures, Craniosynostosis...	ORPHA:667
Amish Lethal Microcephaly	Death in infancy, Cleft soft palate, Micrognathia, Limitation of joint mobility, Osteoporosis, De...	ORPHA:99742
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Thin long bone diaphyses, Osteoporosis, Hip dis...	OMIM:616507
Cat-Eye Syndrome	Hip dysplasia, Abnormal rib morphology, Anal atresia	ORPHA:195
Sprengel Deformity	Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver...	OMIM:184400
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Joint laxity, Long toe, Exaggerated cupid's bow, Overlapping toe, Single transverse palmar crease...	ORPHA:254528
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Barrel-shaped chest, Increased bone mineral density, Short humerus, Bowing of the lon...	OMIM:239000
Hajdu-Cheney Syndrome	Osteopenia, Micrognathia, Absent frontal sinuses, Pectus carinatum, Downturned corners of mouth, ...	ORPHA:955
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Intellectual Developmental Disorder, Autosomal Recessive 69	Hyperplasia of the maxilla	OMIM:618383
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Pulmonary h...	OMIM:616867
Calvarial Doughnut Lesions With Bone Fragility	Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Femoral bowing	OMIM:126550
Crisponi Syndrome	Death in infancy, Camptodactyly of finger, Micrognathia, Kyphosis, Flexion contracture, Limitatio...	ORPHA:1545
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Na...	OMIM:617746
Roifman-Chitayat Syndrome	Osteopenia, Short metacarpal, Pneumonia, Thin lower lip vermilion, Short metatarsal, Cone-shaped ...	OMIM:613328
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Short metatarsal, Hi...	ORPHA:96148
O'Donnell-Luria-Rodan Syndrome	Kyphosis, Tapered finger	OMIM:618512
Sclerosteosis 1	Mandibular prognathia, Syndactyly, Sclerotic scapulae, Broad clavicles, Malar flattening, Dental ...	OMIM:269500
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Straight clavicles, Multiple impacted teeth, Short clavicles,...	OMIM:113300
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Single transverse palmar crease, Micrognathia, Ante...	OMIM:305450
Myopathy, Centronuclear, 2	Scapular winging, Hyperlordosis, Kyphosis, Flexion contracture, Talipes equinovarus, Scoliosis, P...	OMIM:255200
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Periostitis, Osteolysis, Fused cervical vertebrae, Pulmonary fibrosis,...	OMIM:612852
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cleft upper lip, Hypoplasia of the maxilla, Postaxial hand polydact...	OMIM:610829
Brachycephaly, Trichomegaly, And Developmental Delay	Single transverse palmar crease, Supernumerary tooth, Submucous cleft hard palate, Thick lower li...	OMIM:617412
Congenital Myopathy 1B, Autosomal Recessive	Joint laxity, Recurrent respiratory infections, Pulmonary hypoplasia, Scoliosis	OMIM:255320
Mucopolysaccharidosis, Type Vi	Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ...	OMIM:253200
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Cubitus valgus, Joint hyperflexibility, Kyphosis	ORPHA:1875
Czeizel-Losonci Syndrome	Hitchhiker thumb, Thoracolumbar scoliosis, Single transverse palmar crease, Micrognathia, 2-3 fin...	ORPHA:2437
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Sialidosis Type 2	Kyphosis, Short thorax, Flexion contracture, Osteoporosis, Pedal edema, Pectus carinatum	ORPHA:87876
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Single transverse palmar crease, ...	OMIM:303600
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Tented upper lip vermilion, Micrognathia, Oligodontia, Aplasia of the distal phalanx of the 5th f...	OMIM:608670
Schilbach-Rott Syndrome	Micrognathia, 2-3 toe cutaneous syndactyly, Submucous cleft hard palate, 3-4 finger cutaneous syn...	OMIM:164220
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Kyphosis, Platyspondyly, Osteoporosis	ORPHA:2786
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Osteopenia, Joint laxity, Epiphyseal dysplasia, Bowing of the long bones, Kyphoscoliosis, Pectus ...	OMIM:615349
Cutis Laxa, Autosomal Dominant 3	Osteopenia, Joint laxity, Hip dislocation, Talipes equinovarus, Wormian bones, Premature skin wri...	OMIM:616603
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red...	OMIM:610913
Mosaic Trisomy 1	Long toe, Broad toe, Thoracic scoliosis, Toe syndactyly, Arachnodactyly, Camptodactyly of finger,...	ORPHA:1692
Hurler Syndrome	Abnormal clavicle morphology, Recurrent respiratory infections, Death in infancy, Camptodactyly o...	ORPHA:93473
Alagille Syndrome 1	Hypoplasia of the ulna, Butterfly vertebral arch, Abnormal rib morphology, Hemivertebrae, Periphe...	OMIM:118450
Nphp3-Related Meckel-Like Syndrome	Pulmonary hypoplasia	ORPHA:3032
Arthrogryposis Multiplex Congenita 6	Death in infancy, Large fontanelles, Respiratory failure, Death in childhood, Neonatal death, Art...	OMIM:619334
Silver-Russell Syndrome 2	Delayed closure of the anterior fontanelle, Micrognathia, 2-3 toe syndactyly, Downturned corners ...	OMIM:618905
Lopes-Maciel-Rodan Syndrome	Kyphosis, Small hand, Short foot, Ankle clonus, Scoliosis	OMIM:617435
Angelman Syndrome	Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi...	OMIM:105830
10Q22.3Q23.3 Microduplication Syndrome	Abnormal clavicle morphology, Abnormal rib morphology	ORPHA:276422
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Delayed eruption of teeth, Thin upper lip vermilion, Pes planus, Short femur, Dental crowding, Ta...	OMIM:300990
Autism Spectrum Disorder Due To Auts2 Deficiency	Decreased palmar creases, Micrognathia, Kyphosis, Abnormal foot morphology, Narrow palm, Congenit...	ORPHA:352490
Osteogenesis Imperfecta, Type Xiv	Osteopenia, Recurrent fractures, Femoral bowing, Increased susceptibility to fractures	OMIM:615066
Cartilage-Hair Hypoplasia	Joint laxity, Metaphyseal dysplasia, Lumbar hyperlordosis, Flaring of lower rib cage, Hypoplasia ...	OMIM:250250
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Sho...	OMIM:601499
Buratti-Harel Syndrome	Broad hallux, Velopharyngeal insufficiency, Submucous cleft hard palate, Recurrent pneumonia, Hig...	OMIM:619314
Peroxisome Biogenesis Disorder 1A (Zellweger)	Neonatal respiratory distress, Ulnar deviation of the hand, Rocker bottom foot, Single transverse...	OMIM:214100
Vertebral Hypersegmentation And Orofacial Anomalies	Pes planus, Scapular winging, Micrognathia, Pectus excavatum, Submucous cleft hard palate, Unilat...	OMIM:619122
Mucopolysaccharidosis, Type Iiia	Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Ovoid thoracolumba...	OMIM:252900
Satoyoshi Syndrome	Pes planus, Short metacarpal, Malabsorption, Short metatarsal, Osteolytic defects of the phalange...	OMIM:600705
Hajdu-Cheney Syndrome	Osteopenia, Joint laxity, Intestinal malrotation, Dislocated radial head, Micrognathia, Absent fr...	OMIM:102500
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Scoli...	ORPHA:79107
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Anal stenosis, Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip...	OMIM:604292
Pentalogy Of Cantrell	Talipes, Abnormal tibia morphology, Split hand, Abnormal sternum morphology, Aplasia/Hypoplasia o...	ORPHA:1335
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Brachydactyly, Lower limb undergrowth, Bowing of the legs	OMIM:612847
Menkes Disease	Bowing of the long bones, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Malabsorption, P...	ORPHA:565
Mosaic Trisomy 8	Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Abnormal rib morphology, Pat...	ORPHA:96061
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, Widely spaced teeth, Narrow chest, High palate, Micro...	OMIM:266920
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Micrognathia, Osteo...	ORPHA:740
Orofaciodigital Syndrome Type 4	Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate...	ORPHA:2753
Trisomy 1Q	Microretrognathia, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Preaxial hand polydac...	ORPHA:261344
Curry-Jones Syndrome	Anal stenosis, Wormian bones, Intestinal pseudo-obstruction, Intestinal malrotation, Lip pit, Uni...	OMIM:601707
Tarp Syndrome	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Single transverse palm...	OMIM:311900
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thoracic kyphosis, Lumbar int...	OMIM:271510
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Dominant Beta-Thalassemia	Bowing of the long bones, Malar prominence, Abnormality of the dentition, Dyspnea, Jaundice, Oste...	ORPHA:231226
2Q31.1 Microdeletion Syndrome	Micrognathia, Deep philtrum, Abnormal tibia morphology, Downturned corners of mouth, Short palm, ...	ORPHA:251014
X-Linked Charcot-Marie-Tooth Disease Type 1	Kyphosis, Distal upper limb amyotrophy, Pes cavus, Scoliosis	ORPHA:101075
Marinesco-Sjogren Syndrome	Pes planus, Short metacarpal, Coxa valga, Kyphosis, Flexion contracture, Short metatarsal, Scolio...	OMIM:248800
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Submucous cleft hard palate, Cleft palate, ...	ORPHA:2189
Spastic Paraplegia 53, Autosomal Recessive	Joint hyperflexibility, Kyphosis, Upper limb hypertonia, Pectus carinatum	OMIM:614898
Native American Myopathy	Joint laxity, Micrognathia, Cleft palate, Respiratory insufficiency, Downturned corners of mouth,...	ORPHA:168572
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hip dislocation, Joint sublux...	OMIM:617821
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Toe syndactyly, Absence of Stensen duct, Selective tooth agenesis, Cleft upper lip, Carious teeth...	OMIM:129900
Renal-Hepatic-Pancreatic Dysplasia 2	Abnormal lung lobation, Femoral bowing, Stillbirth, Talipes equinovarus, Pulmonary hypoplasia	OMIM:615415
Mucopolysaccharidosis, Type X	Irregular acetabular roof, Spatulate ribs, Hyperlordosis, Broad clavicles, Genu valgum, Platyspon...	OMIM:619698
Bohring-Opitz Syndrome	Joint dislocation, Micrognathia, Flexion contracture, Dislocated radial head, Syndactyly, Neonata...	OMIM:605039
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Hereditary Acrokeratotic Poikiloderma	Xerostomia, Gingivitis, Palmoplantar hyperkeratosis, Finger syndactyly, Open bite, Abnormal rib m...	ORPHA:2907
Autosomal Recessive Robinow Syndrome	Tented upper lip vermilion, Micrognathia, Orofacial cleft, Pectus carinatum, Downturned corners o...	ORPHA:1507
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Short distal phalanx...	OMIM:109400
Branchiogenic-Deafness Syndrome	Branchial cyst, Branchial fistula, Trismus, Abnormal foot morphology, Submucous cleft hard palate...	OMIM:609166
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex...	ORPHA:3103
Hereditary Methemoglobinemia	Lip discoloration, Cyanosis, Exertional dyspnea	ORPHA:621
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Me...	OMIM:618476
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Increased suscept...	OMIM:602080
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Death in infancy, Aplasia/Hypo...	ORPHA:570
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Flexion contracture, Abnormal sternum m...	ORPHA:314588
Spondyloenchondrodysplasia With Immune Dysregulation	Barrel-shaped chest, Recurrent respiratory infections, Metaphyseal dysplasia, Lumbar hyperlordosi...	OMIM:607944
Desmosterolosis	Increased bone mineral density, Intestinal malrotation, Micromelia, Micrognathia, Metatarsus addu...	ORPHA:35107
Genitopatellar Syndrome	Hip contracture, Micrognathia, Hypoplastic ilia, Patellar aplasia, Knee flexion contracture, Radi...	ORPHA:85201
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide anterior fontanel, Prominence of the premaxilla, Abnormal cortical bone morphology, Delayed ...	OMIM:614886
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Joint stiffness, Pectus exc...	ORPHA:98855
Ablepharon Macrostomia Syndrome	Toe syndactyly, Camptodactyly of finger, Hypoplasia of the maxilla, Wide mouth, Excessive wrinkle...	ORPHA:920
Intellectual Developmental Disorder, Autosomal Dominant 26	Decreased palmar creases, Micrognathia, Kyphosis, Scoliosis, Clinodactyly of the 5th finger, Arth...	OMIM:615834
Wieacker-Wolff Syndrome, Female-Restricted	Microretrognathia, Hip contracture, Radial deviation of the hand, Rocker bottom foot, Short neck,...	OMIM:301041
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Clubbing, Hypoxemia, Restrictive ventilatory defect, Cough, Decrease...	ORPHA:747
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Trisomy 17P	Prominent metopic ridge, Talipes, Micrognathia, Tapered finger, Flexion contracture, Orofacial cl...	ORPHA:261290
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress, Anterior rib cupping, Metaphyseal sclerosis,...	OMIM:260400
Wieacker-Wolff Syndrome	Proximal placement of thumb, Short neck, Hyperlordosis, Kyphosis, Micrognathia, Hip dislocation, ...	OMIM:314580
Wrinkly Skin Syndrome	Osteopenia, Congenital hip dislocation, Generalized joint laxity, Excessive skin wrinkling on dor...	ORPHA:2834
Neu-Laxova Syndrome	Osteopenia, Abnormality of the philtrum, Osteomalacia, Micromelia, Micrognathia, Trismus, Flexion...	ORPHA:2671
Pitt-Hopkins Syndrome	Single transverse palmar crease, Short metatarsal, Narrow foot, Finger clinodactyly, Short philtr...	ORPHA:2896
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Joint laxity, Thick lower lip vermilion, Flared metaphysis, Advanced ossification of carpal bones...	OMIM:610442
Axenfeld-Rieger Syndrome	Anal stenosis, Hypoplasia of the maxilla, Everted lower lip vermilion, Hypodontia, Microdontia	ORPHA:782
Pseudohypoparathyroidism, Type Ia	Delayed eruption of teeth, Short metacarpal, Short toe, Osteoporosis, Short metatarsal, Subcutane...	OMIM:103580
Microcephaly 30, Primary, Autosomal Recessive	Clinodactyly of the 5th finger, Thin upper lip vermilion, Pierre-Robin sequence, Cleft soft palate	OMIM:620183
Mucopolysaccharidosis, Type Iiic	Thickened ribs, Kyphoscoliosis, Joint stiffness, Recurrent upper respiratory tract infections, Ov...	OMIM:252930
Roberts-Sc Phocomelia Syndrome	Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion co...	OMIM:268300
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Talipes, Missing ribs, Aplasia/Hypoplasia of the d...	ORPHA:1647
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Missing ribs, Pectus exc...	OMIM:613686
Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:97330
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
4Q21 Microdeletion Syndrome	Toe syndactyly, Micromelia, Short neck, Kyphosis, Small hand, Short foot, Scoliosis, Short palm	ORPHA:238750
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hip contracture, Thin upper lip vermilion, Pectus excavatum, Prominent crus of helix, Deep philtr...	OMIM:619194
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development	Kyphosis, Split hand, Areflexia of lower limbs, Scoliosis, Pes cavus	OMIM:618124
Poems Syndrome	Sclerosis of hand bone, Sclerosis of foot bone, Metaphyseal sclerosis, Respiratory insufficiency ...	ORPHA:2905
Hurler Syndrome	Recurrent respiratory infections, Hypoplasia of the femoral head, Diaphyseal thickening, Joint st...	OMIM:607014
Tonne-Kalscheuer Syndrome	Pes planus, Micrognathia, Pulmonary hypoplasia, Broad thumb, Brachydactyly	OMIM:300978
Autosomal Dominant Hypophosphatemic Rickets	Tooth abscess, Rickets, Osteomalacia, Bowing of the legs	ORPHA:89937
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Neonatal respiratory distress, Short lingual frenulum, Bowed humer...	OMIM:619479
Hypophosphatemic Bone Disease	Rickets, Osteomalacia, Bowing of the legs	OMIM:146350
Aymé-Gripp Syndrome	Thin upper lip vermilion, Prominent metopic ridge, Rocker bottom foot, Craniosynostosis, Tapered ...	ORPHA:1272
Otodental Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth...	ORPHA:2791
Skraban-Deardorff Syndrome	Micrognathia, Absent cupid's bow, Cleft palate, Widely spaced teeth, Pes cavus, Thick upper lip v...	OMIM:617616
Osteogenesis Imperfecta, Type Xv	Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fractures, Scolios...	OMIM:615220
Congenital Myopathy 22A, Classic	Hip contracture, Thoracic scoliosis, Scapular winging, Talipes, Spinal rigidity, Pectus excavatum...	OMIM:620351
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Flexi...	OMIM:210710
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Thin upper lip vermilion, Hyperplasia of the maxilla	OMIM:618587
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Pectus excavatum, Kyphosis, Cervical ribs, Micrognathia	ORPHA:77300
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Atelectasis, Thin ribs, Neonatal death, Joint hypermobility	OMIM:300219
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Prominent metopic ridge, Short middle phalanx of finger, Anal atresia	OMIM:309620
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Osteomalacia, Bowing of the legs, Reduced bone mineral density, Hypophosphatemic rickets, Patholo...	ORPHA:157215
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Larsen Syndrome	Short metatarsal, Pectus carinatum, Knee dislocation, Spina bifida occulta, Joint laxity, Vertebr...	OMIM:150250
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Single transverse palmar crease, Micrognathia, A...	OMIM:619148
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Aplasia/Hypoplasia of the distal phalanges of the toes, Submucous cleft hard palate, Posteriorly ...	OMIM:192445
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Congenital Myopathy 17	Overlapping toe, Tapered finger, Pectus excavatum, Respiratory tract infection, Distal arthrogryp...	OMIM:618975
D-Bifunctional Protein Deficiency	Osteopenia, Delayed cranial suture closure, Micrognathia, Pectus excavatum, Split hand, Large fon...	OMIM:261515
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Pulmonary hypoplasia	OMIM:616733
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Joint stiffness, Pectus exc...	ORPHA:98863
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Camptodactyly of finger, High, narrow palate, Cleft lip, Thick lower lip...	OMIM:616920
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Talipes equinovarus	OMIM:150260
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Alg9-Cdg	Villous atrophy, Micrognathia, Narrow greater sciatic notch, Abnormal bone ossification, Bifid uv...	ORPHA:79328
Congenital Diaphragmatic Hernia	Prominent sternum, Pulmonary hypoplasia	ORPHA:2140
Mucopolysaccharidosis, Type Iiib	Thickened ribs, Joint stiffness, Recurrent upper respiratory tract infections, Ovoid thoracolumba...	OMIM:252920
Microcephalic Primordial Dwarfism, Montreal Type	Micrognathia, Kyphosis, Reduced bone mineral density, Vertebral segmentation defect, Scoliosis	ORPHA:2617
Esophageal Atresia	Respiratory distress, Barrett esophagus, Cyanosis, Intestinal malrotation, Cleft lip, Pyloric ste...	ORPHA:1199
Vacterl/Vater Association	Finger syndactyly, Abnormal intervertebral disk morphology, Preaxial hand polydactyly, Abnormal s...	ORPHA:887
Beta-Thalassemia Major	Bowing of the long bones, Malar prominence, Abnormality of the dentition, Dyspnea, Jaundice, Oste...	ORPHA:231214
Hurler-Scheie Syndrome	Recurrent respiratory infections, Camptodactyly of finger, Joint stiffness, Micrognathia, Contrac...	OMIM:607015
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Vacterl With Hydrocephalus	Absence of the sacrum, Micrognathia, Hypoplasia of the radius, Hemivertebrae, Hip dislocation, Ab...	ORPHA:3412
Craniosynostosis 6	Delayed cranial suture closure, Craniosynostosis, Right unilambdoid synostosis, Spina bifida occu...	OMIM:616602
Aicardi Syndrome	Intestinal polyposis, Prominence of the premaxilla, Block vertebrae, Missing ribs, Cleft upper li...	ORPHA:50
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Cleft soft palate, Deep palmar crease, Short philtrum, Retrognathia, Smooth philtrum, Adducted thumb	ORPHA:293725
Sifrim-Hitz-Weiss Syndrome	Tapered finger, Flat acetabular roof, Anteriorly placed anus, Fused cervical vertebrae, Short cla...	OMIM:617159
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, High, narrow palate, Deep philtrum, Downturned corners of mouth, Short phi...	OMIM:619950
Double Outlet Right Ventricle	Cyanosis, Intestinal malrotation, Abnormality of cartilage of external ear, Submucous cleft hard ...	ORPHA:3426
Weaver Syndrome	Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i...	OMIM:277590
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Abnormality of the dentition, Pectus excavat...	OMIM:115150
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Joint laxity, Pes planus, Sandal gap, Kyphosis, Small hand, Short foot, Pes cavus, Brachydactyly	OMIM:300354
Hypomandibular Faciocranial Dysostosis	Death in infancy, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Cleft palate, Narrow mouth,...	ORPHA:1790
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Submucous cleft hard palate, Bifid uvula, Absent thumb	OMIM:619239
Hypohidrotic Ectodermal Dysplasia	Sinusitis, Abnormal dental morphology, Abnormality of the dentition, Hypoplasia of the maxilla, X...	ORPHA:238468
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Cone-shaped epiphyses of the phalanges...	ORPHA:420794
Mcdonough Syndrome	Micrognathia, Pectus excavatum, Kyphosis, Scoliosis, Bilateral single transverse palmar creases	ORPHA:2471
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital hip dislocation, Pyloric stenosis, Wide anterior fontanel, S...	ORPHA:457279
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, Abnormal morphology of ulna...	ORPHA:1328
Marfanoid Habitus With Situs Inversus	Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Kyphosis, Pectus carina...	OMIM:609008
3C Syndrome	Recurrent respiratory infections, Finger syndactyly, Death in infancy, Short neck, Missing ribs, ...	ORPHA:7
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Kyphosis, Short toe, Broad foot, Brachydactyly	ORPHA:3085
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Micrognathia, Ab...	OMIM:214800
Meier-Gorlin Syndrome 7	Joint laxity, 2-4 finger syndactyly, Anal stenosis, Craniosynostosis, Sagittal craniosynostosis, ...	OMIM:617063
Sponastrime Dysplasia	Delayed epiphyseal ossification, Generalized joint laxity, Metaphyseal widening, Osteopathia stri...	ORPHA:93357
Teebi Hypertelorism Syndrome 1	Sagittal craniosynostosis, Micrognathia, Small hand, Broad palm, Pulmonary hypoplasia, Coronal cr...	OMIM:145420
White-Sutton Syndrome	Joint laxity, Mandibular prognathia, Micrognathia, Cleft palate, Downturned corners of mouth, Thi...	OMIM:616364
Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Joint stiffness, Pectus exc...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Joint stiffness, Pectus exc...	ORPHA:98853
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Rib fusio...	OMIM:134780
Spondyloenchondrodysplasia	Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia, Kyphosis, Pectus carinatu...	ORPHA:1855
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Osteopenia, Mandibular prognathia, Short metacarpal, Brachydactyly, Rhizomelia, Abnormality of th...	OMIM:614813
Hunter-Macdonald Syndrome	Thin upper lip vermilion, Epiphyseal dysplasia, Metatarsus adductus, Cubitus valgus, Premature os...	OMIM:611962
Mitochondrial Complex I Deficiency, Nuclear Type 11	Kyphosis, Osteoporosis, Scoliosis	OMIM:618234
X-Linked Intellectual Disability, Cabezas Type	Toe syndactyly, Sandal gap, Down-sloping shoulders, Camptodactyly of finger, Short neck, Kyphosis...	ORPHA:85293
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Everted upper lip vermilion, Abnormal oral mucosa morphology, Conical tooth...	OMIM:305100
Fanconi Anemia, Complementation Group I	Absent thumb, Short neck, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Short ...	OMIM:609053
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Pectus excavatum, Esophageal atresia, Submucous cleft hard palate, Spina bifida occulta, Tracheoe...	OMIM:619227
Cole-Carpenter Syndrome 1	Osteopenia, Wormian bones, Recurrent fractures, Micrognathia, Reduced bone mineral density, Micro...	OMIM:112240
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Pectus excavatum, 3-4 finger cutaneous syndactyly, Vertebral segmentation defect, Pul...	OMIM:612530
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Abnormal rib morphology, Retrognathia, Small hand, Short foot, Spina bifida occulta, ...	ORPHA:488434
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Apnea, Delayed cranial suture closure, Micrognathia	ORPHA:1129
Fanconi Anemia, Complementation Group F	Sacral dimple, Pneumonia, Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly	OMIM:603467
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Arachnodactyly, Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis	ORPHA:1883
Hennekam-Beemer Syndrome	Telangiectasia of the skin, Camptodactyly of finger, Pneumonia, Micrognathia, Lower limb asymmetr...	ORPHA:2135
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Pelger-Huet Anomaly	Kyphosis, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Pes cavus, Short 4th metacar...	OMIM:169400
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Pectus excavatum, Narrow mouth, Pa...	ORPHA:77301
Isolated Right Ventricular Hypoplasia	Cyanosis, Dyspnea, Clubbing, Pedal edema, Hypoxemia	ORPHA:439
Pulmonary Capillary Hemangiomatosis	Cyanosis, Dyspnea, Hemothorax, Pedal edema, Hypoxemia, Clubbing of fingers, Elevated pulmonary ar...	ORPHA:199241
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress, Thin upper lip vermilion, Sandal gap, High, narrow palate, Submucous cleft ...	OMIM:612863
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Thin upper lip vermilion, Toe syndactyly, Cutis marmorata, Single transverse palmar crease, Limit...	OMIM:610759
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Clubbing, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmon...	ORPHA:2038
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Cog1-Cdg	Osteopenia, Thin upper lip vermilion, Rhizomelia, Micrognathia, Coxa valga, Pierre-Robin sequence...	ORPHA:263508
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Prominent metopic ridge, Tented upper lip vermilion, Apnea...	ORPHA:314655
Marden-Walker Syndrome	Arachnodactyly, Camptodactyly of finger, Talipes, Joint stiffness, Pectus excavatum, Pyloric sten...	ORPHA:2461
Cornelia De Lange Syndrome 1	Pneumonia, Micromelia, Short neck, Proximal placement of thumb, Single transverse palmar crease, ...	OMIM:122470
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory...	ORPHA:70587
Catel-Manzke Syndrome	Joint dislocation, Single transverse palmar crease, Micrognathia, Pectus carinatum, Glossoptosis,...	OMIM:616145
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Death in infancy, Femur fracture, Re...	OMIM:612301
Pulmonary Alveolar Microlithiasis	Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:60025
Gaucher Disease Type 1	Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Abnormal pulmon...	ORPHA:77259
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough	OMIM:263000
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Persistence of primary teeth, Carious teeth, ...	ORPHA:93325
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Finger syndactyly, Abnormal dental enamel morphology, Conical tooth, M...	ORPHA:1071
Ayme-Gripp Syndrome	Smooth philtrum, Thin upper lip vermilion, Mandibular prognathia, Brachydactyly, Delayed cranial ...	OMIM:601088
Cranioectodermal Dysplasia 2	Micrognathia, Ectodermal dysplasia, Fused teeth, High palate, Narrow chest, Widely spaced teeth, ...	OMIM:613610
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Genu valgum	ORPHA:488627
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Elbow dislocation, Kyphosis, Postaxial hand polydactyly, Hemivertebrae, Abnorma...	ORPHA:2916
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia, Short finger, Tapered finger	ORPHA:1867
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Brachydactyly, Joint stiffness, Kyphosis, Abnormality of the elbow, Hip disloc...	ORPHA:1005
Alpha-Mannosidosis, Infantile Form	Osteopenia, Joint laxity, Mandibular prognathia, Thickened ribs, Pneumonia, Craniosynostosis, Joi...	ORPHA:309282
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Elbow contracture, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf m...	OMIM:606612
Gm1 Gangliosidosis	Recurrent respiratory infections, Camptodactyly of finger, Joint stiffness, Hyperlordosis, Kyphos...	ORPHA:354
Baralle-Macken Syndrome	Pes planus, Kyphosis, Tapered finger	OMIM:619255
X-Linked Charcot-Marie-Tooth Disease Type 4	Kyphosis, Pes cavus, Scoliosis	ORPHA:101078
Lethal Congenital Contracture Syndrome 9	Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Micrognathia, ...	OMIM:616503
Fetal Akinesia Deformation Sequence 1	Elbow contracture, Micrognathia, High, narrow palate, Congenital contracture, High palate, Wrist ...	OMIM:208150
Mitochondrial Myopathy And Sideroblastic Anemia	Kyphosis, Scoliosis, Micrognathia	ORPHA:2598
Classical-Like Ehlers-Danlos Syndrome Type 2	Osteopenia, Thoracic scoliosis, Equinus calcaneus, Micrognathia, Knee dislocation, Shoulder dislo...	ORPHA:536532
Kallmann Syndrome-Heart Disease Syndrome	Osteopenia, Cyanosis, Short lingual frenulum, Midgut malrotation, Osteoporosis, Cleft palate	ORPHA:2326
Dextrocardia	Congenital hip dislocation, Abnormal foot morphology, Abnormal lung lobation, Abnormal rib morpho...	ORPHA:1666
Silver-Russell Syndrome	Dental crowding, Sandal gap, Micrognathia, Lower limb asymmetry, Upper limb asymmetry, Downturned...	ORPHA:813
Parietal Foramina 1	Wormian bones, Cleft palate, Cleft upper lip	OMIM:168500
Frontometaphyseal Dysplasia 2	Congenital hip dislocation, Elbow contracture, Deep philtrum, Short metatarsal, Finger clinodacty...	OMIM:617137
Gapo Syndrome	Prominent scalp veins, Delayed cranial suture closure, Delayed closure of the anterior fontanelle...	OMIM:230740
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Pes planus, Malar flattening, Tapered finger, Cleft lip, Hip dislocation, Cleft palate, Genu valg...	OMIM:301066
Au-Kline Syndrome	Prominent metopic ridge, Overlapping toe, Craniosynostosis, Sagittal craniosynostosis, Pectus exc...	OMIM:616580
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Prominent metopic ridge, Dental crowding, Micrognathia, Pectus excavat...	ORPHA:2789
Proximal 16P11.2 Microdeletion Syndrome	Craniosynostosis, Micrognathia, Pyloric stenosis, Rib fusion, Cleft palate, Hand polydactyly	ORPHA:261197
15Q24 Microdeletion Syndrome	Joint laxity, Proximal placement of thumb, Abnormal thumb morphology, Kyphosis, Abnormal toe morp...	ORPHA:94065
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Osteogenesis Imperfecta, Type Xx	Mandibular prognathia, Tented upper lip vermilion, Multiple prenatal fractures, Narrow palate, Ag...	OMIM:618644
Viss Syndrome	Chronic gastritis, Prominent superficial blood vessels, Micrognathia, High, narrow palate, Genera...	OMIM:619472
Acrocephalopolydactylous Dysplasia	Micromelia, Craniosynostosis, Short neck, Postaxial hand polydactyly, Pulmonary hypoplasia, Extra...	OMIM:200995
20Q11.2 Microduplication Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Pectus excavatum, Tented philtrum, Gingival ...	ORPHA:363659
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint dislocation, Generalized joint laxity, High palate, Ecchymosis, Long philtrum, Joint laxity...	OMIM:601776
Tbck-Related Intellectual Disability Syndrome	11 pairs of ribs, Mandibular prognathia, Broad toe, Tented upper lip vermilion, Prominent metopic...	ORPHA:488632
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities	Hip contracture, Kyphosis, Recurrent pneumonia, Elbow flexion contracture, Genu valgum, Scoliosis...	OMIM:618493
Progressive Non-Infectious Anterior Vertebral Fusion	Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Joint stiffness, Spinal...	ORPHA:2062
Breath-Holding Spells	Cyanosis	OMIM:607578
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Chronic lung disease, Acute respiratory distress syndrome, Delayed cranial sutu...	OMIM:620005
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Dental crowding, Micrognathia, Deep philtrum, Gingivitis, Periodontitis, D...	ORPHA:534
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Hallux valgus, Sandal gap, Camptodactyly of finger, Joint hypermobility, Rocker bottom foot, Sing...	OMIM:619951
Trisomy 18	Microretrognathia, Camptodactyly of finger, Esophageal atresia, Non-midline cleft lip, Postaxial ...	ORPHA:3380
2P15P16.1 Microdeletion Syndrome	Pes planus, Toe clinodactyly, Prominent metopic ridge, Sandal gap, Camptodactyly of finger, Bilat...	ORPHA:261349
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Abnormality of the hand, Tapered finger, Pectus excavatum, Kyphosis, Unilateral radia...	ORPHA:476126
Fanconi Anemia, Complementation Group W	Abnormal radial ray morphology, Hypoplasia of the radius, Absent thumb	OMIM:617784
Fanconi Renotubular Syndrome 3	Rickets, Bowing of the legs	OMIM:615605
Limb-Mammary Syndrome	Syndactyly, Toe syndactyly, Cleft hard palate, Cleft lip, 3-4 finger cutaneous syndactyly, Cleft ...	ORPHA:69085
Wolf-Hirschhorn Syndrome	Hypoplastic pubic ramus, Micrognathia, Abnormal form of the vertebral bodies, Abnormal vertebral ...	ORPHA:280
Kindler Epidermolysis Bullosa	Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ...	ORPHA:2908
Neurofaciodigitorenal Syndrome	Mandibular prognathia, Abnormality of the philtrum, Hypoplasia of the premaxilla, Abnormal oral m...	ORPHA:2673
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Lateral Meningocele Syndrome	Smooth philtrum, Vertebral fusion, Dental crowding, Micrognathia, Pectus excavatum, Cleft palate,...	OMIM:130720
Pallister-Hall Syndrome	Anteriorly placed anus, Neonatal death, Distal shortening of limbs, Syndactyly, Mesoaxial foot po...	OMIM:146510
Subaortic Stenosis-Short Stature Syndrome	Bilateral single transverse palmar creases, Micrognathia, Short neck, Kyphosis, Scoliosis, Synost...	ORPHA:3191
Harrod Syndrome	Arachnodactyly, Kyphosis, Abnormal shoulder morphology, Joint hyperflexibility, Abnormal pelvic g...	ORPHA:2115
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Broad hallux, High, narrow palate, Delayed crania...	ORPHA:276432
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Abnorm...	ORPHA:2234
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Micrognathia, Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Bilater...	OMIM:619708
19P13.12 Microdeletion Syndrome	Finger syndactyly, Toe clinodactyly, Sandal gap, Craniosynostosis, Short neck, Kyphosis, Deep pla...	ORPHA:254346
Tenorio Syndrome	Osteopenia, Joint laxity, Mandibular prognathia, Apnea, Recurrent pneumonia, Wide mouth, Macroglo...	OMIM:616260
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Den...	OMIM:619503
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Malar flattening, Ulnar deviation of the hand	OMIM:122880
Cardiofaciocutaneous Syndrome	Abnormal morphology of ulna, Pectus excavatum, Submucous cleft hard palate, Genu valgum, Excessiv...	ORPHA:1340
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent metopic ridge, Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of cani...	ORPHA:364577
Marbach-Schaaf Neurodevelopmental Syndrome	Thin upper lip vermilion, Tapered finger, Submucous cleft hard palate, Downturned corners of mout...	OMIM:619680
Acute Interstitial Pneumonia	Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato...	ORPHA:79126
Klippel-Feil Syndrome 1, Autosomal Dominant	Short neck, Abnormal rib morphology, Scoliosis, Cervical C2/C3 vertebral fusion, Sprengel anomaly...	OMIM:118100
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Hand clenching, Cyanosis, Apnea, Protruding tongue	OMIM:619580
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thoracolumbar scoliosis, Hyperlordosis, Micrognathia, Kyphosis, Small hand, Genu valgum, Short fo...	OMIM:618443
Diamond-Blackfan Anemia 1	11 pairs of ribs, Cleft upper lip, Micrognathia, Short thumb, Absent thumb, Hypoplastic ilia, Spi...	OMIM:105650
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Proximal placement of thumb, Missing ribs, Cleft u...	OMIM:304050
Atypical Rett Syndrome	Short foot, Kyphosis, Small hand, Scoliosis	ORPHA:3095
Tibial Hemimelia	Absent tibia	OMIM:275220
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Osteopenia, Joint laxity, Pes planus, Congenital hip dislocation, Dental crowding, Arachnodactyly...	OMIM:225400
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Abnormal rib morphology	ORPHA:2578
Megalocornea-Intellectual Disability Syndrome	Osteopenia, Tapered finger, Micrognathia, Kyphosis, Joint hyperflexibility, Scoliosis, Metatarsus...	ORPHA:2479
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome	Kyphosis, Scoliosis, Bilateral single transverse palmar creases	ORPHA:85317
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Duplication of thumb phalanx, Micrognathia, Joint stiffness, Large fonta...	ORPHA:2995
Koolen-De Vries Syndrome	Vertebral fusion, Prominent metopic ridge, Cleft upper lip, Pectus excavatum, Pyloric stenosis, H...	OMIM:610443
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Micrognathia, Deformed humerus, Mandibular condyle hypoplasia, Disl...	ORPHA:2975
Pelizaeus-Merzbacher Disease	Kyphosis, Recurrent respiratory infections, Scoliosis, Joint stiffness	ORPHA:702
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Osteopenia, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of mouth, Bifi...	ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Single transverse palmar crease, Tapered finger, Pectus excavatum, ...	OMIM:617061
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Aplastic clavicle, Short neck, Micromelia, Postaxial polydactyly, Preaxial polydactyly, Short rib...	OMIM:616546
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Kyphosis, Scoliosis	ORPHA:2429
Idiopathic Juvenile Osteoporosis	Kyphosis, Vertebral compression fracture, Osteoporosis, Recurrent fractures	ORPHA:85193
Orofaciodigital Syndrome Iii	Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum	OMIM:258850
9P13 Microdeletion Syndrome	Microretrognathia, Joint stiffness, Abnormality of cartilage of external ear, High palate, Metopi...	ORPHA:324313
Gm1-Gangliosidosis, Type I	Death in infancy, Thickened ribs, Short neck, Joint stiffness, Kyphosis, Hypoplastic vertebral bo...	OMIM:230500
Ogden Syndrome	Large posterior fontanelle, Congenital hip dislocation, Apnea, Micrognathia, Deep philtrum, Short...	OMIM:300855
Sjögren-Larsson Syndrome	Kyphosis, Scoliosis, Joint stiffness	ORPHA:816
Kbg Syndrome	Short palm, Vertebral fusion, Syndactyly, Tented upper lip vermilion, Macrodontia, Single transve...	OMIM:148050
Craniofacial Microsomia 1	Block vertebrae, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Partial duplication of...	OMIM:164210
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Mucopolysaccharidosis, Type Iiid	Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Joint stiffness, Short...	OMIM:252940
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Calf muscle hypertrophy, Kyphosis, Elbow flexion contracture, Proximal muscle weakness in upper l...	OMIM:618138
Trisomy 10P	Thumb contracture, Wide cranial sutures, Abnormality of the hand, Micrognathia, Abnormal foot mor...	ORPHA:171929
Prader-Willi Syndrome	Osteopenia, Recurrent respiratory infections, Syndactyly, Kyphosis, Acromicria, Osteoporosis, Sma...	OMIM:176270
Pericardial And Diaphragmatic Defect	Pectus excavatum, Abnormal sternum morphology, Pulmonary hypoplasia, Pulmonary sequestration	ORPHA:2847
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Syndactyly, Narrow joint spaces of the elbow, Dental crowding, Delayed closure of the anterior fo...	ORPHA:96182
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth	OMIM:137550
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Abnormality of the musculature of the lower limbs, Structural foot deformity, Kyphosis, Hip dislo...	ORPHA:464282
Basel-Vanagaite-Smirin-Yosef Syndrome	Finger syndactyly, Overlapping toe, Single transverse palmar crease, Kyphosis, Recurrent pneumoni...	ORPHA:464738
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Short neck, Absent radius, Preaxial hand polydactyly, Micrognath...	ORPHA:233
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Finger syndactyly, Camptodactyly of finger, Hyperlordosis, Kyphosis...	ORPHA:568
Fryns Syndrome	Tented upper lip vermilion, Single transverse palmar crease, Proximal placement of thumb, Promine...	OMIM:229850
Agnathia-Otocephaly Complex	Tracheomalacia, Pulmonary hypoplasia, Mandibular aplasia, Micrognathia	OMIM:202650
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Cleft upper lip, Abnormal rib morphology, Cleft palate, Sprengel anomaly	OMIM:601076
Classical Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Osteoarthritis, Generalized joint laxity,...	ORPHA:287
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Respiratory insufficiency, Thin ribs, High palate, Retrognathia, Joint hypermobility	ORPHA:456328
Trichorhinophalangeal Syndrome, Type Ii	Osteopenia, Chronic gastritis, Mandibular prognathia, Single transverse palmar crease, Micrognath...	OMIM:150230
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Congenital hip dislocation, High, narrow palate, Clinodactyly of the 5th f...	ORPHA:373
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp...	ORPHA:2519
Robinow Syndrome	Dental crowding, Micrognathia, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistence...	ORPHA:97360
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Sacral dimple, Short neck, Micrognathia, Kyphosis, Mesomelia, Scoliosis, Camptodactyl...	OMIM:616894
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis, Joint stiffness	ORPHA:2400
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Arachnodactyly, Tarsal synostosis, Craniosynostosis, Rocker bottom foot, Ulnar bowing, Humeroradi...	OMIM:201750
Craniotubular Dysplasia, Ikegawa Type	Short palm, Metaphyseal dysplasia, Broad femoral neck, Thick lower lip vermilion, Broad ischia, D...	OMIM:619727
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Talipes calcaneovalgus, Advanced eruption of teeth, Fi...	ORPHA:818
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Abnor...	ORPHA:90674
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Multiple prenatal fractures, Flexion contracture, Pulmonary hypoplasia, Arthro...	OMIM:616866
Birk-Barel Syndrome	Microretrognathia, Reduced subcutaneous adipose tissue, Tented upper lip vermilion, Single transv...	OMIM:612292
Shwachman-Diamond Syndrome 2	Death in infancy, Anterior rib cupping, Metaphyseal widening, Death in childhood, High palate, St...	OMIM:617941
Mucolipidosis Type Ii	Hip contracture, Respiratory failure requiring assisted ventilation, Prominent metopic ridge, Cra...	ORPHA:576
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Short metatarsal, Palm...	OMIM:216340
Shashi-Pena Syndrome	Short metacarpal, Kyphosis, Osteoporosis, Deep palmar crease, Scoliosis, Cervical C2/C3 vertebral...	OMIM:617190
Tricuspid Atresia	Cyanosis	ORPHA:1209
Hyperimmunoglobulinemia D With Periodic Fever	Intestinal obstruction, Limitation of joint mobility, Erythema, Urticaria, Arthritis, Recurrent a...	ORPHA:343
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Enterocolitis, Abnorm...	ORPHA:90051
Cutis Laxa, Autosomal Recessive, Type Ic	Osteopenia, Joint laxity, Death in infancy, Sandal gap, Single transverse palmar crease, Microgna...	OMIM:613177
Renal Hypodysplasia/Aplasia 1	Talipes equinovarus, Pulmonary hypoplasia	OMIM:191830
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Micrognathia, 2-3 toe syndactyly, Aortopulmonary window, Cor...	OMIM:620025
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Abnormal clavicle morphology, Recurrent sinopulmonary infections, Join...	ORPHA:581
Emanuel Syndrome	Recurrent respiratory infections, Sacral dimple, Congenital hip dislocation, Micrognathia, Kyphos...	OMIM:609029
Hemifacial Atrophy, Progressive	Kyphosis, Short mandibular rami	OMIM:141300
Eosinophilic Fasciitis	Acrocyanosis, Arthritis, Abnormal eosinophil morphology, Eosinophilia	ORPHA:3165
Eosinophilic Granulomatosis With Polyangiitis	Intestinal obstruction, Sinusitis, Cutis marmorata, Eosinophilia, Malabsorption, Asthma, Respirat...	ORPHA:183
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Finger syndactyly, Pectus excavatum, Kyphosis, Asymmetry of the thorax, Scoliosis, Genu varum	ORPHA:1969
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodactyly, Scoliosis, Prominent...	OMIM:619557
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Single transverse palmar crease, Protruding tongue, Submucous cleft hard palate,...	OMIM:618106
Marfan Syndrome	Osteopenia, Pulmonary artery dilatation, Pes planus, Arthralgia/arthritis, Spontaneous pneumothor...	ORPHA:558
Noonan Syndrome 14	Pes planus, Scapular winging, Short neck, Pectus excavatum, Kyphosis, Pectus carinatum, Deep palm...	OMIM:619745
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Calf muscle hypertrophy, ...	OMIM:607155
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Micrognathia, Metatarsus adductus, Abnormality of the gingiva, Absen...	ORPHA:513456
Cerebrocostomandibular Syndrome	Death in infancy, Neonatal respiratory distress, Micrognathia, Posterior rib gap, Cleft palate, B...	ORPHA:1393
Constricting Bands, Congenital	Syndactyly, Abnormal lung lobation, Abnormal rib cage morphology, Hand polydactyly, Talipes equin...	OMIM:217100
Hypermobile Ehlers-Danlos Syndrome	Joint dislocation, Pes planus, Wormian bones, Apnea, Abnormality of the dentition, Malabsorption,...	ORPHA:285
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Intestinal malrotation, Cleft soft palate, Flexion contracture, Genu valgum, Downturned corners o...	OMIM:619321
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress, Median cleft lip, Accessory oral frenulum, Postaxial polydactyly, Supernume...	OMIM:617088
Dent Disease	Enlarged epiphyses, Bulging epiphyses, Enlargement of the ankles, Recurrent fractures, Osteomalac...	ORPHA:1652
Chromosome 3Q13.31 Deletion Syndrome	Kyphosis, Proximal placement of thumb	OMIM:615433
Trisomy 9P	Sacral dimple, Bilateral single transverse palmar creases, Short neck, Kyphosis, Scoliosis, Clino...	ORPHA:236
Six2-Related Frontonasal Dysplasia	Absent/hypoplastic paranasal sinuses, Wide anterior fontanel, Premature posterior fontanelle clos...	ORPHA:488437
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Clubbing of toes, Airway ob...	ORPHA:99106
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Cleft soft palate, Tapered finger, Pectus excavatum, Pyloric stenosis, Supernumera...	ORPHA:268261
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
9Q33.3Q34.11 Microdeletion Syndrome	Prominent metopic ridge, Single transverse palmar crease, Epistaxis, Asthma, Tented philtrum, Pat...	ORPHA:495818
Kagami-Ogata Syndrome	Pursed lips, Respiratory failure requiring assisted ventilation, Micrognathia, Coxa valga, Limita...	ORPHA:254519
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Kyphosis, Thoracic scoliosis, Postaxial polydactyly, Knee flexion contracture	OMIM:603387
Monosomy 9P	Bilateral single transverse palmar creases, Proximal placement of thumb, Abnormality of the denti...	ORPHA:261112
Restrictive Dermopathy	Osteopenia, Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contract...	ORPHA:1662
Congenital Tracheomalacia	Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co...	ORPHA:95430
Flynn-Aird Syndrome	Kyphosis, Bone cyst, Scoliosis, Joint stiffness	ORPHA:2047
Spinocerebellar Ataxia, Autosomal Recessive 8	Kyphosis, Pes cavus, Scoliosis	OMIM:610743
Split Lower Lip	Abnormal lower lip morphology, Lower lip pit, Narrow maxilla, Abnormality of the dentition	OMIM:183400
Brown-Vialetto-Van Laere Syndrome 1	Hand muscle atrophy, Recurrent respiratory infections, Kyphosis, Ankle clonus, Scoliosis, Death i...	OMIM:211530
Trisomy 20P	Finger syndactyly, Camptodactyly of finger, Talipes, Short neck, Micrognathia, Kyphosis, Preaxial...	ORPHA:261318
Marfanoid-Progeroid-Lipodystrophy Syndrome	Hyperextensibility of the finger joints, Scapular winging, Pes planus, Arachnodactyly, Craniosyno...	OMIM:616914
Basel-Vanagaite-Smirin-Yosef Syndrome	Single transverse palmar crease, Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Pectus carina...	OMIM:616449
Diamond-Blackfan Anemia	Cleft soft palate, Micrognathia, Absent thumb, Cleft lip, Short thumb, Partial duplication of thu...	ORPHA:124
X-Linked Charcot-Marie-Tooth Disease Type 5	Kyphosis, Pes cavus, Scoliosis	ORPHA:99014
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Osteopenia, Pes planus, Cleft soft palate, Talipes equinovarus, Bruising susceptibility	OMIM:614557
Septopreoptic Holoprosencephaly	Abnormal rib morphology, Abnormal vertebral morphology	ORPHA:280195
Bohring-Opitz Syndrome	Joint dislocation, Prominent metopic ridge, Ulnar deviation of the wrist, Apnea, Micrognathia, Pe...	ORPHA:97297
Loeys-Dietz Syndrome	Joint dislocation, Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Microgn...	ORPHA:60030
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Wormian bones, Micrognathia, Asthma, Small hand, Fibular hypoplasia, Do...	ORPHA:444077
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Short fifth metatarsal, Overlapping toe, Cl...	ORPHA:264450
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Fanconi Anemia, Complementation Group P	Short thumb, Hypoplasia of the radius, Micrognathia, Absent thumb	OMIM:613951
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
1Q41Q42 Microdeletion Syndrome	Talipes equinovarus, Pulmonary hypoplasia	ORPHA:250999
Walker-Warburg Syndrome	Metatarsus valgus, Submucous cleft hard palate, Bifid uvula, Cleft palate	ORPHA:899
Kleefstra Syndrome 2	Kyphosis, Scoliosis	OMIM:617768
Spastic Paraplegia 46, Autosomal Recessive	Ankle clonus, Kyphosis, Pes cavus, Scoliosis	OMIM:614409
Classic Homocystinuria	Arachnodactyly, Recurrent fractures, Joint stiffness, Pectus excavatum, Kyphosis, Osteoporosis, P...	ORPHA:394
Wiedemann-Rautenstrauch Syndrome	Osteopenia, Downturned corners of mouth, Short philtrum, Premature loss of teeth, Long toe, 2-3 t...	ORPHA:3455
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Joint laxity, Hallux valgus, Pes planus, Dental crowding, High, narrow palate, Narrow mouth, Wide...	OMIM:300967
Autosomal Recessive Cutis Laxa Type 1	Joint laxity, Wide anterior fontanel, Pyloric stenosis, Pneumothorax, Hip dislocation, Recurrent ...	ORPHA:90349
Meckel Syndrome, Type 6	Postaxial hand polydactyly, Bilobed right lung, Postaxial foot polydactyly, Pulmonary hypoplasia,...	OMIM:612284
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Orofacial cleft, Downturned corners of mouth, Shor...	OMIM:194190
Mgat2-Cdg	Osteopenia, Pectus excavatum, Kyphosis, Scoliosis, Recurrent upper and lower respiratory tract in...	ORPHA:79329
Jaberi-Elahi Syndrome	Joint stiffness, Kyphosis, Pectus carinatum, Talipes equinovarus, Scoliosis, Hand clenching, Join...	OMIM:617988
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Micrognathia, Kyphosis, Osteoporosis, Scoliosis, Joint contracture	OMIM:615381
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type	Kyphosis, Single transverse palmar crease, Scoliosis	OMIM:300861
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Renal Agenesis, Bilateral	Abnormal sacrum morphology, Pulmonary hypoplasia, Sirenomelia	ORPHA:1848
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Micrognathia, Lower limb asymmetry, Kyphosis, 2-3 toe syndactyly, Postaxia...	ORPHA:404440
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Mandibular prognathia, Hypoplasia of the maxilla	ORPHA:3044
Vater/Vacterl Association	Syndactyly, Absent radius, Short thumb, Hypoplasia of the radius, Abnormal rib morphology, Preaxi...	OMIM:192350
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Recurrent respiratory infections, Kyphosis, Flexion contracture, Osteoporosis, Small ...	ORPHA:398069
Aneurysm-Osteoarthritis Syndrome	Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Joint laxity, Ar...	ORPHA:284984
Chromosome 1P36 Deletion Syndrome, Distal	Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula, Abnormality of the anu...	OMIM:607872
Mucopolysaccharidosis, Type Ii	Short neck, Kyphosis, Flexion contracture, Recurrent pneumonia, Split hand, Tracheobronchomalacia...	OMIM:309900
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Kyphosis, Flexion contracture, Absent Achilles reflex, Ankle clonus, Scoliosis, Pes cavus	OMIM:609541
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Downturned corners of mouth, Narrow chest, Genu varum, Long to...	OMIM:264090
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clinodactyly of the 5th finger, Pulmonary artery stenosis, Toe syndactyly, Hypoplasia of the radius	ORPHA:140952
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Arachnodactyly, Micrognathia, Pectus excavatum, High palate, Emphys...	OMIM:614437
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Hip contracture, Pectus excavatum, Kyphosis, Flexion contracture, Bone cyst, Osteolysis, Abnormal...	ORPHA:3042
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Delayed cranial suture closure, Tapered finger, 2-3 toe syndactyly, Anteriorly p...	OMIM:618653
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Micromelia, Micrognathia, Preaxial hand polydactyly, Abnormal pelvis bone ossificatio...	ORPHA:93271
Coffin-Siris Syndrome 12	Joint laxity, Micrognathia, Pectus excavatum, Celiac disease, Velopharyngeal insufficiency, Submu...	OMIM:619325
Alg1-Cdg	Kyphosis, Limitation of joint mobility, Scoliosis	ORPHA:79327
Microphthalmia, Syndromic 2	2-3 toe cutaneous syndactyly, Flexion contracture, Oligodontia, Fused teeth, Contracture of the p...	OMIM:300166
Buerger Disease	Acrocyanosis	ORPHA:36258
Fryns Syndrome	Short neck, Micrognathia, Pulmonary hypoplasia, Narrow chest, Clinodactyly of the 5th finger, Sho...	ORPHA:2059
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Edema of the dorsum of feet, Rocker bottom foot, Single ...	ORPHA:521426
Lathosterolosis	Abnormal thoracic spine morphology, Prominent metopic ridge, Toe syndactyly, Talipes, Micrognathi...	ORPHA:46059
Dubowitz Syndrome	Delayed eruption of teeth, Syndactyly, Pes planus, Single transverse palmar crease, Micrognathia,...	OMIM:223370
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Downturned corners of mouth, Short philtrum, Clinodactyly...	OMIM:136140
Koolen-De Vries Syndrome	Vertebral fusion, Arachnodactyly, Pectus excavatum, Kyphosis, Hip dislocation, Joint hyperflexibi...	ORPHA:96169
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Tapered toe, Tapered finger, Celiac disease, Asthma, Rib fusion, Clinodactyly of the 5th finger, ...	ORPHA:544488
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Congenital hip dislocation, Block vertebrae, Cyanosis, Posteriorly placed a...	OMIM:306955
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis, Overlapping toe	OMIM:617478
Gaucher Disease, Perinatal Lethal	Micrognathia, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex congenita, Thoracic ...	OMIM:608013
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Osteopenia, Microretrognathia, Sacral dimple, Short neck, Pectus excavatum, Kyphosis, Talipes cav...	OMIM:300966
Multiple Endocrine Neoplasia, Type Iib	Joint laxity, Hyperlordosis, Pectus excavatum, Kyphosis, Scoliosis, Pes cavus, Proximal femoral e...	OMIM:162300
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Widely spaced teeth, High p...	OMIM:612474
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus de...	ORPHA:261537
Mosaic Trisomy 20	Vertebral fusion, Down-sloping shoulders, Micrognathia, Kyphosis, Spinal canal stenosis, Fused ce...	ORPHA:1724
Mucopolysaccharidosis Type 2, Severe Form	Otosclerosis, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Flexion contra...	ORPHA:217085
Neuroocular Syndrome	Hyperextensibility of the finger joints, Scapular winging, Pes planus, Genu recurvatum, Tapered f...	OMIM:619539
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Sialidosis Type 1	Kyphosis, Short thorax, Abnormal form of the vertebral bodies, Pectus carinatum, Scoliosis	ORPHA:812
Focal Dermal Hypoplasia	Congenital hip dislocation, Osteopathia striata, Short metatarsal, Anteriorly placed anus, Oligod...	OMIM:305600
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Finger syndactyly, Broad hallux phalanx, Preaxial hand polydactyly, Large fontanelles, Long philt...	ORPHA:2211
Mucopolysaccharidosis Type 2, Attenuated Form	Otosclerosis, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Flexion contra...	ORPHA:217093
Lethal Congenital Contracture Syndrome 5	Death in infancy, Thin ribs	OMIM:615368
Congenital Disorder Of Glycosylation, Type Il	Kyphosis, Hip dislocation, Short neck	OMIM:608776
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Osteomyelitis, Kyphosis, Scoliosis, Camptodactyly, Flexion contracture of finger	ORPHA:88628
Autosomal Dominant Cutis Laxa	Osteopenia, Joint laxity, Pes planus, Prematurely aged appearance, Genu recurvatum, Emphysema, Hi...	ORPHA:90348
Laryngotracheoesophageal Cleft Type 4	Abnormal rib morphology	ORPHA:93941
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Miscarriage, Respiratory insufficiency due to muscle wea...	ORPHA:169189
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Tapered finger, Long ...	ORPHA:521445
Isolated Childhood Apraxia Of Speech	High, narrow palate, Submucous cleft hard palate	ORPHA:209908
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Bencze Syndrome	Open bite, Submucous cleft hard palate	ORPHA:1241
Charge Syndrome	Delayed eruption of teeth, Talipes, Cleft upper lip, Abnormal soft palate morphology, Abnormal ti...	ORPHA:138
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress, Long clavicles, Arachnodactyly, Overlapping toe, Single transverse palmar c...	ORPHA:83617
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea	ORPHA:860
Neu-Laxova Syndrome 1	Finger syndactyly, Toe syndactyly, Rocker bottom foot, Micromelia, Short neck, Micrognathia, Long...	OMIM:256520
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Pectus carinatum, Narrow greater sciatic notch, Short palm, Exaggerated me...	OMIM:312870
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Thick lower lip vermilion, Submucous cleft hard palate, Wide mouth, Unilat...	OMIM:619103
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:187300
Cleft Soft Palate	Cleft soft palate	OMIM:119570
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Postaxial polydactyly, Single transverse palmar crease, Micrognathia, Long fi...	OMIM:617527
Kenny-Caffey Syndrome, Type 2	Increased bone mineral density, Thickened cortex of long bones, Delayed closure of the anterior f...	OMIM:127000
Serkal Syndrome	Pulmonary hypoplasia	ORPHA:139466
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Macroglossia, Hand ...	ORPHA:226307
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder	Kyphosis, Pectus carinatum	ORPHA:500180
Zimmermann-Laband Syndrome 2	Kyphosis, Short neck	OMIM:616455
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features	Micrognathia, Pectus excavatum, Kyphosis, Radial deviation of finger, Clinodactyly	OMIM:609944
Pagod Syndrome	Abnormal clavicle morphology, Death in infancy, Abnormal rib morphology, Pulmonary artery hypopla...	ORPHA:991
Microphthalmia, Syndromic 9	Micrognathia, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bilateral lung agenesi...	OMIM:601186
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Witteveen-Kolk Syndrome	Proximal placement of thumb, High, narrow palate, Short philtrum, High palate, Short palm, Clinod...	OMIM:613406
Distal 16P11.2 Microdeletion Syndrome	Kyphosis, Arachnodactyly	ORPHA:261222
Scimitar Syndrome	Recurrent respiratory infections, Abnormal lung morphology, Partial anomalous pulmonary venous re...	ORPHA:185
Distal Deletion 15Q	Single transverse palmar crease, Micrognathia, Generalized joint laxity, 2-3 toe cutaneous syndac...	ORPHA:1596
Alstrom Syndrome	Pes planus, Abnormality of the hand, Kyphosis, Recurrent pneumonia, Hyperostosis frontalis intern...	OMIM:203800
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis	ORPHA:500055
Meacham Syndrome	Death in infancy, Partial anomalous pulmonary venous return, Cardiac total anomalous pulmonary ve...	OMIM:608978
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Cutis marmorata, Short lower limbs, Bowing of the legs	OMIM:219250
Nephronophthisis 2	Pulmonary hypoplasia	OMIM:602088
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture	OMIM:617239
Mowat-Wilson Syndrome	Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus de...	ORPHA:2152
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital hip dislocation, Single transverse palmar crease, Edema of...	OMIM:601803
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Cleft soft palate, Micrognathia, Hypoxemia, Submucous cleft soft palate, Pulmonary arterial hyper...	ORPHA:2282
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Flexion contracture, Calcaneovalgus de...	ORPHA:261552
Mitochondrial Dna Depletion Syndrome 11	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	OMIM:615084
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Celiac disease, Asthma, Cardiorespiratory arr...	ORPHA:293987
Renal Tubular Dysgenesis	Pulmonary hypoplasia	OMIM:267430
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Broad hallux, Postaxial polydactyly, Pectus excavatum, Hip dysplasia, Cl...	ORPHA:457284
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Joint hyperflexibility, Bifid...	ORPHA:3047
Cerebrofaciothoracic Dysplasia	Short neck, Rib fusion, Hemivertebrae, Vertebral segmentation defect, Narrow chest, Bifid ribs, S...	ORPHA:1394
Rett Syndrome	Short foot, Kyphosis, Scoliosis	OMIM:312750
6Q Terminal Deletion Syndrome	Joint laxity, Aplasia/Hypoplasia of the ribs, Hallux valgus, Prominent metopic ridge, Micrognathi...	ORPHA:75857
Generalized Arterial Calcification Of Infancy	Respiratory distress, Abnormality of the knee, Calcification of the auricular cartilage, Cyanosis...	ORPHA:51608
Dystonia 1, Torsion, Autosomal Dominant	Multiple joint contractures, Hyperlordosis, Kyphosis, Absent Achilles reflex, Scoliosis	OMIM:128100
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Pectus carinatum, Promi...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Calcaneovalgus deformity, Positional foot deformity, Pectus carinatum, Promi...	ORPHA:363958
Hardikar Syndrome	Cleft soft palate, Intestinal malrotation, Celiac disease, Jaundice, Esophageal varix, Osteoporos...	OMIM:301068
Craniosynostosis 4	Sagittal craniosynostosis, Pansynostosis, Lambdoidal craniosynostosis, Metopic synostosis, Malar ...	OMIM:600775
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Holoprosencephaly-Postaxial Polydactyly Syndrome	Intestinal malrotation, Hypoplasia of the premaxilla, Micrognathia, Talipes, Postaxial hand polyd...	ORPHA:2166
Immunodeficiency 49	Natal tooth, Eosinophilia, Micrognathia, Short philtrum, Wormian bones	OMIM:617237
Coccidioidomycosis	Osteomyelitis, Pneumonia, Osteolysis, Abnormal long bone morphology, Arthritis, Abnormality of th...	ORPHA:228123
Aicardi-Goutieres Syndrome 1	Erythema, Multiple gastric polyps, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Hemifacial Hyperplasia With Strabismus	Submucous cleft hard palate	OMIM:141350
Intellectual Developmental Disorder, Autosomal Dominant 57	Pes planus, Craniosynostosis, Kyphosis, Contracture of the proximal interphalangeal joint of the ...	OMIM:618050
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Jaundice, Macroglossia, Prolonged neonatal jaundice, Malar flattening, Delayed cranial suture clo...	OMIM:613038
Genitopalatocardiac Syndrome	Micrognathia, Kyphosis, Postaxial hand polydactyly, Scoliosis, Brachydactyly	ORPHA:2075
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Micrognathia, Tachypnea, Bell-shaped thorax, Pulmonary arterial hypertension, Horizontal ribs	OMIM:614857
Pseudo-Torch Syndrome 2	Pleural effusion, Thin ribs	OMIM:617397
Proteus Syndrome	Abnormal lung lobation, Abnormal finger morphology, Abnormal form of the vertebral bodies, Clinod...	ORPHA:744
Tolchin-Le Caignec Syndrome	Arachnodactyly, Micrognathia, Submucous cleft hard palate, High palate, Narrow mouth, Clinodactyl...	OMIM:618971
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Matthew-Wood Syndrome	Abnormal lung morphology, Pulmonary hypoplasia	ORPHA:2470
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Pulmonary hypoplasia	OMIM:231680
1P36 Deletion Syndrome	11 pairs of ribs, Brachydactyly, Camptodactyly of finger, Joint stiffness, Lower limb asymmetry, ...	ORPHA:1606
Myasthenic Syndrome, Congenital, 20, Presynaptic	Pes planus, Arthrogryposis multiplex congenita, Kyphosis, Scoliosis	OMIM:617143
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Micrognathia, Deep plantar creases, Pulmonary hypoplasia, Abnormal ilium morphology, Short distal...	OMIM:614080
Periventricular Nodular Heterotopia 9	Everted upper lip vermilion, Prominent metopic ridge, Single transverse palmar crease, Hypoplasti...	OMIM:618918
Spondyloarthropathy, Susceptibility To, 1	Back pain, Kyphosis, Oligoarthritis, Enthesitis, Sacroiliac arthritis, Hip osteoarthritis	OMIM:106300
X-Linked Intellectual Disability Due To Gria3 Mutations	Joint laxity, Pes planus, Genu recurvatum, Kyphosis, Scoliosis	ORPHA:364028
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Bilateral lung agenesis, Pulmonary artery stenosis, Congenital pulmonary airway malformation, Pul...	OMIM:611812
Primary Hyperoxaluria	Cutis marmorata, Recurrent fractures, Abnormality of the dentition, Generalized osteosclerosis, R...	ORPHA:416
Mckusick-Kaufman Syndrome	Syndactyly, Congenital hip dislocation, Mesoaxial hand polydactyly, Postaxial hand polydactyly, P...	OMIM:236700
Genitopatellar Syndrome	Hip contracture, Congenital hip dislocation, Micrognathia, Patellar aplasia, Knee flexion contrac...	OMIM:606170
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Cardiofacioneurodevelopmental Syndrome	Micrognathia, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly	OMIM:619123
Criss-Cross Heart	Abnormal thorax morphology, Cyanosis, Respiratory insufficiency	ORPHA:1461
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity	ORPHA:352447
Axenfeld-Rieger Syndrome, Type 1	Thin upper lip vermilion, Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Short philtrum, ...	OMIM:180500
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Narrow mouth, Flexion contracture, Thin ribs	OMIM:614833
X-Linked Intellectual Disability, Snyder Type	Long toe, Arachnodactyly, Recurrent fractures, Kyphoscoliosis, Pectus excavatum, Kyphosis, Osteop...	ORPHA:3063
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Coat hanger sign of ribs, Thoracic hypoplasia	ORPHA:254534
Alkaptonuria	Vertebral fusion, Low back pain, Kyphosis, Limited shoulder movement, Arthritis, Thickened Achill...	OMIM:203500
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Kyphoscoliosis, Tapered finger, Coxa valga, Kyphosis, Absent frontal sinuses, Hemivertebrae, Tali...	OMIM:301040
Turner Syndrome Due To Structural X Chromosome Anomalies	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma...	ORPHA:99413
Mosaic Monosomy X	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma...	ORPHA:99228
Monosomy X	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma...	ORPHA:99226
Turner Syndrome	Osteopenia, Short neck, Micrognathia, Reduced bone mineral density, Dermatoglyphic ridges abnorma...	ORPHA:881
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndactyly, Abnormal lun...	OMIM:270400
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure, Tongue fascicu...	OMIM:252010
Dyrk1A-Related Intellectual Disability Syndrome	Hallux valgus, Multiple joint contractures, Arachnodactyly, Toe syndactyly, Pectus excavatum, Kyp...	ORPHA:464306
Ethylene Glycol Poisoning	Cyanosis, Gastritis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration	ORPHA:31826
Lacrimoauriculodentodigital Syndrome	Finger syndactyly, Syndactyly, Toe syndactyly, Duplication of thumb phalanx, Absent thumb, Abnorm...	ORPHA:2363
Srd5A3-Cdg	Kyphosis, Abnormal sacrum morphology, Palmoplantar keratoderma	ORPHA:324737
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Osteopetrosis With Renal Tubular Acidosis	Recurrent fractures, Persistence of primary teeth, Pectus excavatum, Abnormality of the dentition...	ORPHA:2785
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Tapered finger, Pectus excavatum, Kyphosis, Short toe, Short foot, Sco...	ORPHA:464311
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Osteopenia, Joint hypermobility, Kyphosis, Osteoporosis, Scoliosis, Bicoronal synostosis	OMIM:619718
Acth-Independent Macronodular Adrenal Hyperplasia	Osteopenia, Kyphosis, Osteoporosis	OMIM:219080
Pigmented Nodular Adrenocortical Disease, Primary, 2	Osteopenia, Kyphosis, Osteoporosis	OMIM:610475
Dpagt1-Cdg	Arachnodactyly, Flexion contracture, Osteoporosis, Pulmonary hypoplasia, Scoliosis, Camptodactyly...	ORPHA:86309
Velocardiofacial Syndrome	Talipes, Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft hard palate, Pier...	OMIM:192430
Fontaine Progeroid Syndrome	Syndactyly, Death in infancy, Craniosynostosis, Micrognathia, Pneumothorax, Platyspondyly, Absent...	OMIM:612289
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Small hypothenar eminence, Lumbar hyperlordosis, Decreased palmar creases, Thenar mus...	ORPHA:2232
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Cardiospondylocarpofacial Syndrome	Joint laxity, Tarsal synostosis, Rib fusion, Wide mouth, Fused cervical vertebrae, Fusion of midd...	OMIM:157800
Renal Agenesis	Talipes equinovarus, Pulmonary hypoplasia	ORPHA:411709
Myasthenia Gravis	Dyspnea, Acrocyanosis, Rheumatoid arthritis	ORPHA:589
Histiocytoid Cardiomyopathy	Cyanosis, Tachypnea, Cleft palate, Cough	ORPHA:137675
Meckel Syndrome, Type 1	Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Short neck,...	OMIM:249000
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th...	OMIM:618223
Tooth Agenesis, Selective, X-Linked, 1	Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol...	OMIM:313500
Fucosidosis	Acrocyanosis, Vascular skin abnormality, Abnormality of the dentition	ORPHA:349
Holoprosencephaly 7	Bilateral cleft palate, Median cleft lip, Bilateral cleft lip, Hypoplasia of the premaxilla, Abse...	OMIM:610828
Bifid Uvula	Submucous cleft soft palate, Cleft lip, Bifid uvula	ORPHA:99771
16Q24.3 Microdeletion Syndrome	Proximal placement of thumb, Micrognathia, Kyphosis, Hip dysplasia, Scoliosis	ORPHA:261250
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
17Q11 Microdeletion Syndrome	Osteopenia, Bowing of the legs, Kyphosis, Abnormal lung morphology, Osteoporosis, Osteolysis, Dia...	ORPHA:97685
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Sacral dimple, Hypoplastic scapulae, Missing ribs, Short nec...	ORPHA:3310
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Joint laxity, Pes planus, Arachnodactyly, Hyperlordosis, Kyphosis, Large hands, Scoliosis, Long foot	OMIM:617011
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Joint laxity, Pes planus, Lumbar hyperlordosis, Arachnodactyly, Kyphoscoliosis, Kyphosis, Limitat...	ORPHA:457359
Joubert Syndrome 21	Bell-shaped thorax, Pulmonary hypoplasia, Short ribs	OMIM:615636
Micro Syndrome	Kyphosis, Micrognathia, Scoliosis, Joint stiffness	ORPHA:2510
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased sensitivity to hypoxemia, Neuropathic arthropathy, Acrocyanosis, Hypogeusia	OMIM:223900
Cockayne Syndrome Type 2	Kyphosis, Flexion contracture, Scoliosis	ORPHA:90322
Coffin-Siris Syndrome 1	Joint laxity, Recurrent respiratory infections, Sacral dimple, Sandal gap, Single transverse palm...	OMIM:135900
Oligomeganephronia	Pulmonary venous occlusion, Pulmonary hypoplasia, Micrognathia	ORPHA:2260
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cleft palate, Wide mouth, Abnormal parotid gland morphology, Nar...	OMIM:154500
Familial Dysautonomia	Acrocyanosis, Osteolysis, Recurrent fractures	ORPHA:1764
Aspartylglucosaminuria	Joint laxity, Recurrent respiratory infections, Kyphosis, Hypoplastic frontal sinuses, Platyspond...	OMIM:208400
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Abnormal stomach morphology, Neonatal asphyxia, Dyspnea, Wheezing...	ORPHA:141127
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Macroglossia, Pleural effusion	OMIM:261740
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Clubbing, Peda...	ORPHA:97214
Pituitary Adenoma 4, Acth-Secreting	Kyphosis, Vertebral compression fracture, Osteoporosis, Biconcave vertebral bodies	OMIM:219090
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Neonatal death, Pulmonary hypoplasia	OMIM:263200
Truncus Arteriosus	Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosis, Abnorma...	ORPHA:3384
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Submucous cleft hard palate, Flexion contracture, Ankle clonus, Talipes valgus, Pes cavus	OMIM:618891
Tetraamelia Syndrome 1	Micrognathia, Peripheral pulmonary vessel aplasia, Pulmonary hypoplasia, Hypoplastic pelvis, Tetr...	OMIM:273395
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Wrist swelling, Kyphosis, Rickets, Hip dislocation, Genu v...	OMIM:309000
Microphthalmia, Syndromic 1	Prominent fingertip pads, Syndactyly, Lumbar hyperlordosis, Down-sloping shoulders, Kyphoscoliosi...	OMIM:309800
Dermatomyositis	Abnormal eosinophil morphology, Telangiectasia of the skin, Gastrointestinal stroma tumor, Erythe...	ORPHA:221
Pontine Tegmental Cap Dysplasia	Ankle clonus, Rib fusion, Hemivertebrae, Scoliosis	OMIM:614688
Pigmented Nodular Adrenocortical Disease, Primary, 1	Osteopenia, Kyphosis, Osteoporosis	OMIM:610489
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Micrognathia, Kyphosis, Increased femoral anteversion, Scoliosis, Death in childhood	OMIM:619005
Lymphedema-Distichiasis Syndrome	Kyphosis, Chylothorax, Micrognathia	OMIM:153400
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Kyphosis	OMIM:619909
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Hemivertebrae, Supernumerary ribs, Butterfly vertebra...	OMIM:206900
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte...	ORPHA:99104
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density, Acrocyanosis, Cutis marmorata	OMIM:259900
Autosomal Recessive Ataxia, Beauce Type	Ankle clonus, Kyphosis, Pes cavus, Scoliosis	ORPHA:88644
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Death in infancy, Kyphosis, Flexion contracture, Death in childhood	OMIM:212065
Townes-Brocks Syndrome	Broad hallux phalanx, Pes planus, Rectoperineal fistula, Toe syndactyly, Lower limb asymmetry, Pr...	ORPHA:857
Mend Syndrome	Microretrognathia, Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Kyphosis, Long fin...	OMIM:300960
Absence Of The Pulmonary Artery	Orthopnea, Cyanosis, Nonproductive cough, Dyspnea, Recurrent pneumonia, Bronchiectasis, Pedal ede...	ORPHA:980
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Talipes, Submucous cleft hard palate, Bifid uvula	OMIM:617660
Williams Syndrome	Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, C...	ORPHA:904
Thauvin-Robinet-Faivre Syndrome	Pes planus, Bowing of the legs, Pedal edema, Macroglossia, Large hands, Thick vermilion border, L...	OMIM:617107
Pseudoxanthoma Elasticum, Forme Fruste	Kyphosis, Abnormal sternum morphology, Scoliosis	OMIM:177850
Foxg1 Syndrome Due To 14Q12 Microdeletion	Kyphosis, Scoliosis	ORPHA:261144
Mend Syndrome	Sacral dimple, Broad hallux, Overlapping toe, Micrognathia, Kyphosis, Long fingers, 2-3 toe synda...	ORPHA:401973
15Q14 Microdeletion Syndrome	Kyphosis, Scoliosis	ORPHA:261190
Double Outlet Left Ventricle	Cyanosis, Tachypnea, Orofacial cleft	ORPHA:3427
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Aortopulmonary window, Pulmonary hypoplasia, Pulmonary artery a...	ORPHA:99050
Atelis Syndrome 2	Pes planus, Sacral dimple, Single transverse palmar crease, Micrognathia, Kyphosis, Clinodactyly	OMIM:620185
Cowden Syndrome	Pectus excavatum, Kyphosis, Bone cyst, Palmoplantar keratoderma, Scoliosis, Brachydactyly	ORPHA:201
Rett Syndrome, Congenital Variant	Pes planus, Kyphosis, Talipes equinovarus, Scoliosis	OMIM:613454
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Intestinal malrotation	OMIM:616749
Alexander Disease	Osteopenia, Hyperlordosis, Short neck, Kyphosis, Scoliosis	ORPHA:58
Renal-Hepatic-Pancreatic Dysplasia 1	Neonatal death, Pulmonary hypoplasia	OMIM:208540
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Submucous cleft hard palate, Cleft palate, Failure of eruption of permanent teeth, Tooth malposit...	ORPHA:2250
Cockayne Syndrome B	Kyphosis, Limitation of joint mobility, Osteoporosis, Ivory epiphyses of the phalanges of the han...	OMIM:133540
Fraser Syndrome	Finger syndactyly, Death in infancy, Toe syndactyly, Abnormal lung lobation, Vertebral segmentati...	ORPHA:2052
Postencephalitic Parkinsonism	Kyphosis, Camptocormia	ORPHA:97349
Holoprosencephaly 13, X-Linked	Median cleft lip, Micrognathia, Submucous cleft hard palate, Cleft palate, Solitary median maxill...	OMIM:301043
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia of the sternum, Aplasia/Hypoplasia of the pha...	OMIM:219000
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Kyphosis, Scoliosis, Aspiration pneumonia	OMIM:619482
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Recurrent respiratory infections, Abnormal pelvis bone morphology, Camptodactyly of finger, Abnor...	ORPHA:2273
Sotos Syndrome	Joint laxity, Hip contracture, Sacrococcygeal teratoma, Pes planus, Ankle flexion contracture, Cr...	ORPHA:821
Thoracoabdominal Syndrome	Pulmonary hypoplasia	OMIM:313850
Neurofibromatosis Type 1	Recurrent fractures, Joint stiffness, Kyphosis, Genu valgum, Slender long bone, Scoliosis, Abnorm...	ORPHA:636
Holoprosencephaly 2	Aplasia of the premaxilla, Submucous cleft hard palate, Absent nasal septal cartilage, Bilateral ...	OMIM:157170
Acromegaly	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Deep plantar creas...	ORPHA:963
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Arthritis, Vasculitis in the skin, Acrocyanosis	ORPHA:48435
Somatomammotropinoma	Macrodactyly, Tapered finger, Kyphosis, Osteoarthritis, Spinal canal stenosis, Deep plantar creas...	ORPHA:314769
Cardiac-Urogenital Syndrome	Partial anomalous pulmonary venous return, 2-3 toe syndactyly, Scimitar anomaly, Pulmonary hypopl...	OMIM:618280
Aicardi-Goutières Syndrome	Multiple joint contractures, Cutis marmorata, Arthritis, Prolonged neonatal jaundice, Acrocyanosis	ORPHA:51
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis	ORPHA:268943
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Pedal edema, Exertional dyspnea	ORPHA:2299
Cockayne Syndrome A	Hip contracture, Kyphosis, Limitation of joint mobility, Ivory epiphyses of the phalanges of the ...	OMIM:216400
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Kyphosis	OMIM:619244
Triosephosphate Isomerase Deficiency	Kyphosis, Death in adolescence, Death in infancy	OMIM:615512
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Pulmonary hypoplasia	OMIM:619351
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Joint laxity, Back pain, Osteomyelitis, Single transverse palmar crease, Kyphosis, Abnormal curva...	OMIM:619475
Medulloblastoma	Adenomatous colonic polyposis, Delayed cranial suture closure	ORPHA:616
Chromosome Xq26.3 Duplication Syndrome	Kyphosis	OMIM:300942
Penile Agenesis	Bilateral lung agenesis, Bilateral talipes equinovarus, Pulmonary hypoplasia	ORPHA:49
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ...	OMIM:233450
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Narrow chest, Scoliosis	OMIM:182210
Autosomal Recessive Polycystic Kidney Disease	Recurrent pneumonia, Spontaneous pneumothorax, Pulmonary hypoplasia, Micrognathia	ORPHA:731
Mowat-Wilson Syndrome	Delayed eruption of teeth, Aganglionic megacolon, Pectus excavatum, Pyloric stenosis, Submucous c...	OMIM:235730
Cockayne Syndrome	Kyphosis, Contractures of the large joints, Congenital contracture, Abnormal epiphysis morphology...	ORPHA:191
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Abnormal paranasal sinus morphology, Agenesis of canine, Abnor...	ORPHA:141099
Cockayne Syndrome Type 3	Kyphosis, Flexion contracture, Scoliosis	ORPHA:90324
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy...	ORPHA:99125
Autosomal Recessive Spastic Paraplegia Type 35	Ankle clonus, Kyphosis, Positional foot deformity	ORPHA:171629
Branchiooculofacial Syndrome	Single transverse palmar crease, Proximal placement of thumb, Hyperlordosis, Short neck, Kyphosis...	OMIM:113620
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Ramon Syndrome	Kyphosis, Juvenile rheumatoid arthritis, Scoliosis	OMIM:266270
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Alström Syndrome	Pes planus, Thoracic scoliosis, Kyphosis, Short toe, Recurrent upper respiratory tract infections...	ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Fgf18

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Fgf18.

No publications found that use IMPC mice or data for Fgf18.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Fgf18^{tm244(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us