Not currently registered for phenotyping at IMPC

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

Gene Summary

fibroblast growth factor 18
FGF-18,  D130055P09Rik

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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.

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 Similarity of
Matching phenotypes Source
Cervical Rib
Cervical ribs OMIM:117900
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Lumbar platyspondyly, Absent ossification of cervical vertebral bodies, Neonatal death, Fibular h... OMIM:601376
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Cleft palate, Undulate clavicles, Short metatarsal, Malar flattenin... OMIM:304120
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Death in infancy, Valgus hand deformity, Aplasia/Hypoplasia of... OMIM:200700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Flat occiput, Tibial bowing, Thin bony cortex, Fibular bowing, Deformed rib cage, Rickets, Bowing... OMIM:600081
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Cleft palate, Talipes equinovarus, Short meta... ORPHA:93307
Atelosteogenesis, Type Iii
Knee dislocation, Tibial bowing, Radial bowing, Cleft palate, Talipes equinovarus, Micrognathia, ... OMIM:108721
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Osteogenesis Imperfecta, Type Iii
Decreased calvarial ossification, Micrognathia, Tibial bowing, Thin ribs, Pulmonary arterial hype... OMIM:259420
Leri-Weill Dyschondrosteosis
Dorsal subluxation of ulna, Hypoplasia of the radius, Short toe, Limited elbow movement, Short 4t... OMIM:127300
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Rickets, Enlargement of the wrists, Metaphyseal irregularity, Delayed eruption of teeth, Femoral ... OMIM:264700
Osebold-Remondini Syndrome
Abnormality of the vertebral column, Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplas... OMIM:112910
Brachydactyly Type A1
Broad metacarpals, Short middle phalanx of finger, Cone-shaped epiphysis, Talipes equinovarus, Di... ORPHA:93388
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Spondyloperipheral Dysplasia
Short metatarsal, Limited elbow extension, Short toe, Flat acetabular roof, Cone-shaped epiphyses... OMIM:271700
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Rickets, Enlargement of the wrists, Metaphyseal irregularity, Delayed eruption of ... OMIM:277440
Atelosteogenesis, Type I
Cleft palate, Distal tapering femur, Talipes equinovarus, Midface retrusion, Short metatarsal, Ne... OMIM:108720
Brachyolmia Type 1, Hobaek Type
Flat acetabular roof, Intervertebral space narrowing, Sclerotic foci of metaphyses of the elbow, ... OMIM:271530
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Metaphyseal dysplasia, Short 5th metacarpal, Premature loss of teeth, Short philtrum, Thin vermil... OMIM:156510
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Thin bony cortex, Generalized bone demineralization, Tibial bowing, Rickets, Fibular ... OMIM:600785
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing... OMIM:602111
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Metatropic Dysplasia
Long thorax, Aplasia/Hypoplasia of the lungs, Abnormal intervertebral disk morphology, Abnormal f... ORPHA:2635
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormal scapula morphology, ... ORPHA:2141
Metaphyseal Acroscyphodysplasia
Genu varum, Malar flattening, Short toe, Short humerus, Short phalanx of finger, Cone-shaped epip... OMIM:250215
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Flat occiput, Tibial bowing, Thin bony cortex, Fibular bowing, Deformed rib cage, Rickets, Bowing... OMIM:241530
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Tibial bowing, Broad long bones, Respiratory insufficiency, Thin ribs, Large... OMIM:166210
Acromesomelic Dysplasia 2C
Radial bowing, Single transverse palmar crease, Shortening of all proximal phalanges of the finge... OMIM:201250
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Genu varum, Short greater sciatic notch, Short middle phalanx of finge... ORPHA:93314
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Coronal cleft vertebrae, Epiphyseal stippling, Short long bone, Limb underg... OMIM:118651
Otospondylomegaepiphyseal Dysplasia
Cleft palate, Epiphyseal dysplasia, Abnormal pelvis bone morphology, Abnormally ossified vertebra... ORPHA:1427
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Apnea, Abnormal dental ena... OMIM:601559
Heart Defects-Limb Shortening Syndrome
Death in infancy, Abnormal form of the vertebral bodies, Abnormality of the metaphysis, Kyphosis,... ORPHA:1354
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Knee dislocation, Thin ribs, Irregular vertebral endplates, Tapered finger, Metaphyseal irregular... OMIM:618395
Dyggve-Melchior-Clausen Disease
Genu varum, Shield chest, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Pes planus,... OMIM:223800
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Long thorax, Progeroid facial appearance, Cubitus valgus, Disharmonious carpal bone, Genu valgum,... OMIM:608154
Osteolysis Syndrome, Recessive
Distal radial epiphyseal osteolysis, Abnormal foot morphology, Osteolytic defects of the middle p... OMIM:259610
Kyphomelic Dysplasia
Cleft palate, Talipes equinovarus, Short humerus, Femoral bowing, Pterygium, Short femur, Undulat... OMIM:211350
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Femoral bowing, Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregu... OMIM:608940
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Micrognathia, Tibial bowing, Radial bowing, Abnormality of the lower limb, Lower limb undergrowth... ORPHA:3035
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Polydactyly, Stillbirth, Abnormal thorax morphology, Syndact... ORPHA:294975
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Fibular hyp... OMIM:164900
Craniosynostosis And Dental Anomalies
Hallux valgus, 2-3 toe syndactyly, Brachycephaly, Trigonocephaly, Craniosynostosis, Supernumerary... OMIM:614188
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Short middle phalanx of finger, Short 1st metacarpal, Limited elbow extension, Tibial bowing, Mic... OMIM:210720
Acro-Renal-Mandibular Syndrome
Hypoplasia of the radius, Finger syndactyly, Rudimentary fibula, Micrognathia, Hypoplastic scapul... ORPHA:958
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Radial bowing, Thin ribs, Multiple prenatal fractures, Type 1 collagen overmodific... OMIM:610915
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Rickets, Enlargement of the wrists, Delayed eruption of teeth, Femoral bowing, Osteom... ORPHA:289157
Weismann-Netter Syndrome
Delayed eruption of permanent teeth, Fibular bowing, Lateral femoral bowing, Anterior tibial bowi... OMIM:112350
Microcephaly-Micromelia Syndrome
Micrognathia, Talipes equinovarus, Humeroradial synostosis, Craniosynostosis, Absent radius, Narr... OMIM:251230
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Cleft palate, Talipes equinovarus, Camptodactyl... OMIM:206920
Multicentric Carpotarsal Osteolysis Syndrome
Wrist swelling, Metatarsal osteolysis, Micrognathia, Ulnar deviation of the hand, Ankle swelling,... OMIM:166300
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, 2-3 toe syndactyly, Radial bowing, Thoracic hypoplasia, Microgn... OMIM:617866
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Bil... ORPHA:1972
Van Den Ende-Gupta Syndrome
Hallux valgus, Cleft palate, Talipes equinovarus, Malar flattening, Joint contracture of the hand... OMIM:600920
Ulnar Hypoplasia
Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D... OMIM:191440
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Death in infancy, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, F... ORPHA:2098
Mesomelic Limb Shortening And Bowing
Micrognathia, Cleft palate, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortenin... OMIM:249710
Atelosteogenesis, Type Ii
Death in infancy, Increased intervertebral space, Short greater sciatic notch, Talipes equinovaru... OMIM:256050
Hypophosphatemic Rickets, X-Linked Dominant
Tibial bowing, Fibular bowing, Bowing of the legs, Enamel hypomineralization, Metaphyseal irregul... OMIM:307800
Shox-Related Short Stature
Micrognathia, Tibial bowing, High palate, Lower limb undergrowth, Cubitus valgus, Genu valgum, Sh... ORPHA:314795
Jackson-Weiss Syndrome
Broad metatarsal, Toe syndactyly, Broad hallux phalanx, 2-3 toe syndactyly, Abnormal palate morph... ORPHA:1540
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Abnormality of the elbow, Pectus carinatum, Finger syndactyly, Abnormal rib morphology, Clinodact... ORPHA:3268
Carious teeth, Hypodontia, Delayed eruption of permanent teeth, Micrognathia, Osteolytic defects ... OMIM:265800
Autosomal Recessive Distal Osteolysis Syndrome
Midface retrusion, Short distal phalanx of finger, Abnormality of the dentition, Hypoplasia of th... ORPHA:2776
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hallux valgus, Avascular necrosis of the capital femoral epiphysis, Irregular iliac crest, Platys... OMIM:304950
Multiple Epiphyseal Dysplasia, Lowry Type
Small epiphyses, Micrognathia, Fragmented epiphyses, Abnormal sternum morphology, Rhizomelia, Epi... ORPHA:166016
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Cleft palate, Talipes equinovarus, Long upper lip, Epiphyseal dysplasia, Pes planu... OMIM:271640
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Campomelic Dysplasia
Thoracic hypoplasia, Shortening of all phalanges of the toes, Shortening of all phalanges of fing... OMIM:114290
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Talipes, Neonatal death, Fibular hypoplasia, Short 5th finger, Hypoplasia of the ra... OMIM:227270
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Femoral bowing, Tibial bowing, High palate, Pectus carinatum, Deep philtrum, Pursed lips, Narrow ... OMIM:245160
Angioosteohypotrophic Syndrome
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Thin bony cortex,... ORPHA:75508
Dysostosis, Stanescu Type
Carious teeth, Abnormal palate morphology, Pectus excavatum, Midface retrusion, Brachycephaly, Ab... ORPHA:1798
Blount Disease
Tibial bowing, Abnormality of the knee, Osteochondrosis, Abnormality of the proximal tibial epiph... ORPHA:2768
Mental Retardation Syndrome, Mietens-Weber Type
Pes planus, Dislocated radial head, Absent proximal radial epiphyses, Elbow flexion contracture, ... OMIM:249600
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Platyspondyly, En... OMIM:609052
Pallister W Syndrome
Metatarsus adductus, Agenesis of central incisor, Radial bowing, Agenesis of maxillary central in... OMIM:311450
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal palate morphology, Micrognathia, Open bite, Brachyceph... ORPHA:2097
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metacarpal morphology, Abnormal lung lobation, Abnormality of epiphysis morphology, Bowi... ORPHA:2631
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone ... ORPHA:2790
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility, Talipes equinovarus OMIM:276821
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Beaking of vertebral bodies, Bowing of the long bones, Abnormal form of the ve... ORPHA:40
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing, Wormian bones OMIM:138930
Geroderma Osteodysplasticum
Tibial bowing, Progeroid facial appearance, Mandibular prognathia, Increased susceptibility to fr... OMIM:231070
Ulna Hypoplasia-Intellectual Disability Syndrome
Metatarsus adductus, Broad hallux phalanx, Talipes, Ulnar deviation of finger, Hypoplasia of the ... ORPHA:2249
Premature Aging Syndrome, Penttinen Type
Micrognathia, Midface retrusion, Thin vermilion border, Wormian bones, Delayed eruption of teeth,... OMIM:601812
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... OMIM:176240
Parastremmatic Dwarfism
Genu valgum, Kyphosis, Flexion contracture, Short neck, Scoliosis OMIM:168400
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Aplasia/Hypoplasia of the lungs, Pectus carinatum, Arachnodactyly, Kyphosis, Bilateral single tra... ORPHA:1548
Greenberg Dysplasia
Abnormal intestine morphology, Epiphyseal stippling, Neonatal death, Malar flattening, Multiple p... OMIM:215140
Aarskog-Scott Syndrome
Cleft palate, Pes planus, Delayed eruption of teeth, Finger syndactyly, Genu recurvatum, Camptoda... ORPHA:915
Campomelic Dysplasia
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Tracheobronchomalacia, Talipes equ... ORPHA:140
W Syndrome
Metatarsus adductus, Radial bowing, Agenesis of maxillary central incisor, Cubitus valgus, Pes pl... ORPHA:2804
Acromesomelic Dysplasia 4
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... OMIM:619636
Abnormality of the ulna, Cone-shaped epiphysis, Open bite, Epiphyseal stippling, Mandibular progn... ORPHA:950
Carious teeth, Midface retrusion, Obtuse angle of mandible, Increased bone mineral density, Hypop... ORPHA:763
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Oligodontia, Hypoplasia of the maxi... ORPHA:363417
Holt-Oram Syndrome
Pectus excavatum, Short clavicles, Triphalangeal thumb, Phocomelia, Abnormal vertebral morphology... OMIM:142900
Marshall Syndrome
Irregular proximal tibial epiphyses, Cleft palate, Pierre-Robin sequence, Irregular distal femora... OMIM:154780
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Hypoplasi... OMIM:612447
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Tibial bowing, Increased bone mineral density, Femora... OMIM:166740
Multicentric Osteolysis, Nodulosis, And Arthropathy
C1-C2 subluxation, Hip contracture, Pes planus, Delayed eruption of teeth, Protrusio acetabuli, H... OMIM:259600
Lujan-Fryns Syndrome
Pectus excavatum, High palate, Micrognathia, Short philtrum, Brachycephaly, Arachnodactyly, Brach... ORPHA:776
3M Syndrome
Short thorax, Hypoplastic pelvis, Increased vertebral height, Rocker bottom foot, Congenital hip ... ORPHA:2616
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cleft palate, Pierre-Robin sequence, Talipes equinovarus, Abnormality of the knee, Prominent calc... ORPHA:251028
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Odontochondrodysplasia 1
Death in infancy, Genu varum, Genu recurvatum, Recurrent respiratory infections, Short long bone,... OMIM:184260
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Horizontal ribs, Death in infancy, Early ossification of capital femoral epi... OMIM:208500
Shprintzen-Goldberg Craniosynostosis Syndrome
Brachyturricephaly, Talipes equinovarus, Joint contracture of the hand, Pes planus, Genu recurvat... OMIM:182212
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... ORPHA:168549
Metatropic Dysplasia
Epiphyseal dysplasia, Short ribs, Halberd-shaped pelvis, Anisospondyly, Flared femoral metaphysis... OMIM:156530
Jeune Syndrome
Toe syndactyly, Aplasia/Hypoplasia of the lungs, Cone-shaped epiphysis, Abnormal sternum morpholo... ORPHA:474
Microphthalmia With Limb Anomalies
Cleft palate, Death in infancy, Talipes equinovarus, Finger syndactyly, Synostosis of joints, Hyp... ORPHA:1106
Acromesomelic Dysplasia 1
Broad metatarsal, Broad metacarpals, Lower thoracic kyphosis, Radial bowing, Broad finger, Short ... OMIM:602875
Leri-Weill dyschondrostosis (LWD) - SHOX deletion
Limited pronation/supination of forearm, Radial bowing, Madelung deformity DECIPHER:58
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Genu varum, Lateral clavicle hook, Midface retrusion, Phocomelia, Aplasia/Hypopla... OMIM:171480
Boomerang Dysplasia
Poorly ossified vertebrae, Abnormality of tibia morphology, Abnormality of the ulna, Aplasia/Hypo... ORPHA:1263
Metaphyseal Chondrodysplasia, Spahr Type
Carious teeth, Short lower limbs, Metaphyseal dysplasia, Genu varum, Abnormality of epiphysis mor... ORPHA:2501
Hip Dysplasia, Beukes Type
Abnormality of epiphysis morphology, Abnormality of bone mineral density, Kyphosis, Abnormality o... ORPHA:2114
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Abnormal diaphysis morphology, Abnormal foot morphology, Micrognathia, High palate, Thin bony cor... ORPHA:85184
Andersen Cardiodysrhythmic Periodic Paralysis
Cleft palate, Oligodontia, Short metatarsal, Malar flattening, Clinodactyly of the 5th toe, Thin ... OMIM:170390
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Enlargement of the ... OMIM:300554
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Orofaciodigital Syndrome Viii
Syndactyly, Recurrent aspiration pneumonia, Polydactyly, Short tibia OMIM:300484
Split-Hand/Foot Malformation 3
Cleft palate, High palate, Split hand, Narrow mouth, Camptodactyly, Hypoplasia of the maxilla, Mi... OMIM:246560
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Abnormal dental enamel ... ORPHA:439822
Mohr Syndrome
Cleft palate, Metaphyseal irregularity, Accessory oral frenulum, Malar flattening, Syndactyly, Hy... OMIM:252100
Spondyloepimetaphyseal Dysplasia, Irapa Type
Upper limb undergrowth, Short metatarsal, Pes planus, Hypoplastic pelvis, Broad palm, Pectus cari... ORPHA:93351
Maxillonasal Dysplasia
Cleft palate, Microdontia, Open bite, Midface retrusion, Mandibular prognathia, Short distal phal... ORPHA:1248
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Micrognathia, Short philtrum, Cloverleaf skull, Large fontanelles, Abnormality of epiphysis morph... ORPHA:93267
Blount Disease, Adolescent
Osteochondritis Dissecans, Genu varum, Bowing of the legs OMIM:259200
Kyphomelic Dysplasia
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones,... ORPHA:1801
Metaphyseal Anadysplasia 2
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs OMIM:613073
Congenital Disorder Of Glycosylation, Type Ig
Butterfly vertebrae, Short femur, Talipes equinovarus, Rhizomelia, Short ribs, Hypoplasia of the ... OMIM:607143
Arthrogryposis, Distal, Type 1C
Shoulder flexion contracture, Cleft palate, Hip contracture, Talipes equinovarus, Rocker bottom f... OMIM:619110
Spondyloepiphyseal Dysplasia, Nishimura Type
Cleft palate, Anterior plagiocephaly, Abnormality of cranial sutures, Slender finger, Increased b... ORPHA:163649
Eiken Syndrome
Limited elbow flexion, Metaphyseal irregularity, Cubitus valgus, Epiphyseal dysplasia, Absence of... ORPHA:79106
Immunodeficiency 43
Hypoplasia of the ulna, Recurrent respiratory infections, Radial bowing, Bronchiectasis OMIM:241600
Hydrocephalus With Associated Malformations
Short lower limbs, Abnormal foot morphology, Tibial bowing, Micrognathia, Lower limb undergrowth,... OMIM:236640
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Alveolar process hypoplasia, Hypodontia, Maxillozygomatic hypoplasia, Malar flattening, Delayed e... ORPHA:2972
Melnick-Needles Syndrome
Cleft palate, Talipes equinovarus, Pes planus, Delayed eruption of teeth, Obtuse angle of mandibl... OMIM:309350
Stickler Syndrome Type 1
Cleft palate, Long philtrum, Abnormality of epiphysis morphology, Joint hyperflexibility, Hypopla... ORPHA:90653
Van Maldergem Syndrome 1
Cutaneous finger syndactyly, Abnormal foot morphology, Talipes equinovarus, Malar flattening, Sho... OMIM:601390
Acrorenal-Mandibular Syndrome
Hypoplasia of the radius, Foot polydactyly, Hand polydactyly, Rudimentary fibula, Elbow flexion c... OMIM:200980
Craniometadiaphyseal Dysplasia
Carious teeth, Genu varum, Broad long bones, High palate, Microdontia, Mandibular prognathia, Cub... OMIM:269300
Genu varum, Fragmented epiphyses, Metaphyseal irregularity, Genu recurvatum, Fragmented, irregula... OMIM:177170
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Limited pronation/supination of forearm, Radial bowing, Petechiae, Ulnar bowing, Hip dislocation,... OMIM:605432
Van Maldergem Syndrome 2
Cutaneous finger syndactyly, Abnormal foot morphology, Talipes equinovarus, Malar flattening, Sho... OMIM:615546
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Abnormal thorax morphology, Hi... OMIM:605274
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Intervertebral space narrowing, Genu varum, Flat capital femoral epiphysis, Pectus carinatum, Irr... OMIM:609223
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Joint contracture of the hand, Radial deviation of finger, Median cl... OMIM:136760
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Femoral bowing, Rocker bottom foot, Long philtrum, Brachycephaly, Narrow pelvis bone, Ulnar bowin... OMIM:207410
Carpenter Syndrome 1
Genu varum, Midface retrusion, Malar flattening, Joint contracture of the hand, Deviation of fing... OMIM:201000
Holt-Oram Syndrome
Pectus excavatum, Triphalangeal thumb, Phocomelia, Aplasia/Hypoplasia of the radius, Abnormal cla... ORPHA:392
Cardioacrofacial Dysplasia 1
Long thorax, Diastema, Short philtrum, Midface retrusion, Postaxial polydactyly, Limb undergrowth... OMIM:619142
Martsolf Syndrome 1
Metatarsus adductus, Pectus excavatum, High palate, Slender ulna, Short philtrum, Talipes equinov... OMIM:212720
Thoracic Dysostosis, Isolated
Bell-shaped thorax, Pectus excavatum, Short ribs OMIM:187750
Meier-Gorlin Syndrome 1
Small anterior fontanelle, Cutaneous finger syndactyly, Genu varum, Cleft palate, Talipes equinov... OMIM:224690
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Short thorax, Limited elbow extension, Abnormality of pelvic girdle bone m... ORPHA:175
Distal Limb Deficiencies-Micrognathia Syndrome
Tarsal synostosis, Abnormality of the ulna, Cleft palate, High palate, Microdontia, Aplasia/Hypop... ORPHA:1307
Phocomelia, Schinzel Type
Fibular aplasia, High, narrow palate, Micrognathia, Radial bowing, Hand oligodactyly, Cleft palat... ORPHA:2879
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shield chest, Talipes equinovarus, Cubitus valgus, Pes planus, Delayed eruption of teeth, Deviati... OMIM:143095
Diastrophic Dysplasia
Abnormal form of the vertebral bodies, Symphalangism affecting the phalanges of the hand, Proxima... ORPHA:628
Cohen Syndrome
Macrodontia of permanent maxillary central incisor, High, narrow palate, Micrognathia, Short phil... OMIM:216550
Ritscher-Schinzel Syndrome 3
Poorly ossified vertebrae, Micrognathia, Death in infancy, Epiphyseal stippling, Shortening of al... OMIM:619135
Pyle Disease
Carious teeth, Metaphyseal dysplasia, Thickened calvaria, Hypoplastic frontal sinuses, Metaphysea... OMIM:265900
Ulnar Hypoplasia-Split Foot Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split hand, Split foot ORPHA:1122
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Coffin-Lowry Syndrome
Pes planus, Delayed eruption of teeth, Sleep apnea, Hypoplasia of the maxilla, Hypodontia, High p... ORPHA:192
Rhyns Syndrome
Radial bowing, Thickened calvaria, Osteopenia, Short femoral neck, Brachydactyly OMIM:602152
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormal ilium morphology, Micrognathia, Metaphyseal dysplasia, Short iliac bones, Irregular acet... ORPHA:93316
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... ORPHA:96334
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Talipes equinovarus, Tapered finger, Short palm, Camptodactyly of finger, Hypoplasia... ORPHA:85279
Spondyloepimetaphyseal Dysplasia, Irapa Type
Broad palm, Upper limb undergrowth, Metaphyseal dysplasia, Capitate-hamate fusion, Pectus carinat... OMIM:271650
Acrocephalopolysyndactyly Type Iii
Mandibular prognathia, Lower limb undergrowth, Craniosynostosis, Malar flattening, Oxycephaly, Pr... OMIM:101120
Nager Syndrome
Abnormal palate morphology, Micrognathia, Cleft palate, Triphalangeal thumb, Wide mouth, Respirat... ORPHA:245
Cenani-Lenz Syndrome
Toe syndactyly, Micromelia, Oligodactyly, Abnormal form of the vertebral bodies, Synostosis of ca... ORPHA:3258
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Tibial torsion, Bowing of the legs OMIM:188800
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Short long bone, Delayed pubic bone ossificatio... ORPHA:93296
Craniodiaphyseal Dysplasia
Frontal bossing, Craniofacial hyperostosis, Diaphyseal thickening, Abnormal rib morphology ORPHA:1513
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Pfeiffer Syndrome
Brachyturricephaly, High palate, Elbow ankylosis, Cloverleaf skull, Mandibular prognathia, Finger... OMIM:101600
Ivic Syndrome
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... OMIM:147750
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Abnormality of the vertebral column, Abnormal intervertebral disk morphology, Hip contracture, Ab... ORPHA:99642
Congenital Insensitivity To Pain With Severe Intellectual Disability
Micrognathia, Tibial bowing, Rocker bottom foot, Congenital bilateral hip dislocation, Limb under... ORPHA:453510
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... OMIM:609945
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Micrognathia, Osteolytic defects of the phalanges of the hand OMIM:277150
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal palate morphology, Respiratory insufficiency, Brachycephaly, Malar flattening, Abnormali... ORPHA:93262
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Dent Disease 1
Tibial bowing, Thin bony cortex, Fibular bowing, Rickets, Bowing of the legs, Enlargement of the ... OMIM:300009
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, P... OMIM:613091
Craniofacial-Deafness-Hand Syndrome
Ulnar deviation of finger, Abnormality of the wrist, Narrow mouth, Camptodactyly of finger, Ulnar... ORPHA:1529
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Short lower limbs, Upper limb undergrowth, Genu varum, Metaphyseal irregularity, Reduced bone min... ORPHA:93315
Autosomal Recessive Hypophosphatemic Rickets
Polyarticular arthritis, Genu varum, Tibial bowing, Lower limb asymmetry, Enlargement of the wris... ORPHA:289176
20P12.3 Microdeletion Syndrome
Broad hallux phalanx, Pectus carinatum, Long philtrum, Malar flattening, Narrow mouth, Broad thum... ORPHA:261295
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Enlarged metacarpal epiphyses, Broad toe, Pes planus, Cupped ribs, Short long bone, Flat acetabul... OMIM:609616
Lethal Congenital Contracture Syndrome Type 1
Micrognathia, Abnormality of the elbow, Abnormal hip bone morphology, Abnormal form of the verteb... ORPHA:1486
Mueller-Weiss Syndrome
Sclerosis of foot bone, Abnormality of the os naviculare pedis, Positional foot deformity, Limita... ORPHA:566943
Achondrogenesis Type 1B
Micrognathia, Aplasia/Hypoplasia of the lungs, Talipes equinovarus, Short thorax, Short foot, Nar... ORPHA:93298
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hallux valgus, Crowded maxillary incisors, Cone-shaped epiphyses of the 3rd toe, Cone-shaped epip... ORPHA:397973
Fibrochondrogenesis 1
Broad ischia, Cleft palate, Malar flattening, Joint contracture of the hand, Short ribs, Camptoda... OMIM:228520
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood, Short finger, Tapered finger OMIM:302000
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
2-3 toe syndactyly, High palate, Tapered finger, Brachycephaly, Long fingers, Flexion contracture... OMIM:218000
Cleidocranial Dysplasia
Carious teeth, Sinusitis, Cleft palate, Midface retrusion, Abnormal dental enamel morphology, Del... ORPHA:1452
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Osteoporosis, Wormian bones, Frontal bossing, Joint hyperflexibility, Short distal phalanx of fin... ORPHA:2787
Limited hip extension, Genu varum, Bowing of the legs, Rhizomelia, Generalized joint laxity, Mala... OMIM:100800
Dyssegmental Dysplasia, Silverman-Handmaker Type
Thoracic hypoplasia, Micrognathia, Talipes equinovarus, Short long bone, Neonatal death, Bowing o... OMIM:224410
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Joint contracture of the hand, Delayed eruption of teeth, Pes planus, Camptodactyly of finger, Pr... OMIM:612350
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Decreased calvarial ossification, Aplasia/Hypoplasia of the phalanges of the toes, Phocomelia, Ap... OMIM:276820
Cortical Defects, Wormian Bones, And Dentinogenesis Imperfecta
Carious teeth, Thin ribs, Delayed closure of the anterior fontanelle, Increased susceptibility to... OMIM:604922
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Carpal synostosis, Radial bowing, Mesomelia OMIM:156232
Spondylocostal Dysostosis 1, Autosomal Recessive
Death in infancy, Abnormality of the odontoid process, Vertebral fusion, Hemivertebrae, Kyphoscol... OMIM:277300
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Pectus excavatum, High palate, Micrognathia, Short philtrum, Arachnodactyly, Deep philtrum, Front... OMIM:309520
Hypophosphatasia, Childhood
Carious teeth, Bowing of the legs, Craniosynostosis, Frontal bossing, Rachitic rosary, Dolichocep... OMIM:241510
Spondylometaphyseal Dysplasia, Axial
Proximal femoral metaphyseal irregularity, Thoracic hypoplasia, Anterior rib cupping, Rhizomelia,... OMIM:602271
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Neonatal death, Syndactyly, Mesomelia, Hypoplasia of the ulna OMIM:228940
Shprintzen-Goldberg Syndrome
Apnea, Pes planus, Camptodactyly of finger, Hypoplasia of the maxilla, Micrognathia, Pectus carin... ORPHA:2462
Achondrogenesis, Type Ia
Short clavicles, Hypoplastic scapulae, Abnormal hand bone ossification, Unossified vertebral bodi... OMIM:200600
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Madelung deformity, Short tibia OMIM:127350
Mietens Syndrome
Metatarsus adductus, Elbow ankylosis, Talipes, Avascular necrosis of the capital femoral epiphysi... ORPHA:2557
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Thoracic hypoplasia, Small epiphyses, Cleft palate, High palate, Hip contracture, ... OMIM:618363
Keipert Syndrome
Broad hallux phalanx, Broad thumb, Broad distal phalanx of finger, Tented upper lip vermilion, Ex... ORPHA:2662
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Thoracic hypoplasia, Upper limb undergrowth, Pulmonary hypoplasia OMIM:613124
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Flat occiput, Pectus excavatum, Cone-shaped epiphysis, Large fontanelles, Brachycephaly, Mandibul... ORPHA:2511
Achondrogenesis Type 1A
Micrognathia, Aplasia/Hypoplasia of the lungs, Multiple rib fractures, Short thorax, Short foot, ... ORPHA:93299
Atelosteogenesis Type Iii
Club-shaped distal femur, Distal tapering femur, Talipes equinovarus, Short tubular bones of the ... ORPHA:56305
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Lower limb asymmetry, Fibular hypoplasia, Postaxial oligodactyly, Unilateral ulna... OMIM:608571
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Proximal humeral metaphyseal irregularity, Long clavicles, Micrognathia, Death in infancy, Thorac... OMIM:602613
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Talipes, Ulnar deviation of finger, Cubitus valgus... ORPHA:1836
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Short thumb, Camptodactyly, Clinodactyly of the 5th finger, Overlapping toe OMIM:618453
Hao-Fountain Syndrome
Hallux valgus, Large fontanelles, Trigonocephaly, Central sleep apnea, Delayed cranial suture clo... OMIM:616863
Multiple Epiphyseal Dysplasia With Robin Phenotype
Cleft palate, Talipes equinovarus, Short humerus, Short femur, Irregular epiphyses, Micrognathia,... OMIM:601560
Platyspondylic Dysplasia, Torrance Type
Abnormality of the carpal bones, Metaphyseal cupping, Genu varum, Hypoplastic scapulae, Bowing of... ORPHA:85166
8Q22.1 Microdeletion Syndrome
Long philtrum, Craniosynostosis, Sandal gap, Finger syndactyly, Limitation of joint mobility, Cam... ORPHA:178303
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... ORPHA:1505
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Microdontia, Aplasia/Hypoplasia of the radius, Ulnar bowing, Micromelia, Madelung ... ORPHA:1765
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Bowing ... OMIM:608728
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... ORPHA:2878
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Malar flattening, Broad palm, Small epiphyses, High palate, Anterior rib cupping, Flared iliac wi... OMIM:300232
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Abnormal dental enamel morphology, Delayed eruption of ... OMIM:257850
Spondyloepimetaphyseal Dysplasia, X-Linked
Metaphyseal irregularity, Long fibula, Anterior wedging of T12, Limited elbow extension, Short lo... OMIM:300106
Osteogenesis Imperfecta, Type Xxi
Pectus excavatum, Bowing of the legs, Pes valgus, Osteoporosis, Pes planus, Wormian bones, Joint ... OMIM:619131
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Cleft palate, Hip contracture, Malar flattening, Delayed epiphyseal ossificatio... OMIM:601561
Bone Dysplasia, Lethal, Holmgren Type
Bell-shaped thorax, Narrow chest, Short ribs OMIM:211120
Satb2-Associated Syndrome Due To A Pathogenic Variant
Micrognathia, Cleft palate, Smooth philtrum, High palate, Celiac disease, Long philtrum, Lower li... ORPHA:576283
Respiratory insufficiency, Large fontanelles, Bowing of the long bones, Craniosynostosis, Abnorma... ORPHA:436
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea, Clubbing OMIM:219400
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Dysplasia of the femoral head, Knee osteoarthritis, Abnormal ... ORPHA:93284
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Decreased calvarial ossification, Pectus excavatum, Pectus carinatum, Platyspo... OMIM:259440
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Micrognathia, Syndactyly, Hypoplasia of the radius OMIM:212780
Myhre Syndrome
Abnormal lip morphology, Cleft palate, Midface retrusion, Abnormality of epiphysis morphology, Ma... ORPHA:2588
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Micrognathia, Long thorax, Horizontal ribs, Pulmonary hypoplasi... OMIM:617925
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormal cortic... ORPHA:1802
Brachydactyly, Type B1
Cutaneous finger syndactyly, Short middle phalanx of finger, Delayed eruption of permanent teeth,... OMIM:113000
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia, Ab... OMIM:246570
Melnick-Needles Syndrome
Short thorax, Delayed eruption of teeth, Delayed cranial suture closure, Cone-shaped epiphyses of... ORPHA:2484
Smith-Mccort Dysplasia 1
Irregular epiphyses, Genu varum, Hypoplastic scapulae, Beaking of vertebral bodies, Hypoplastic a... OMIM:607326
Saethre-Chotzen Syndrome
Plagiocephaly, Hallux valgus, Cleft palate, Triphalangeal thumb, Open bite, Brachycephaly, Cranio... ORPHA:794
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Recurrent respiratory infections, Talipes equinovarus, Kyph... ORPHA:85288
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Short ribs, H... OMIM:617895
Dyggve-Melchior-Clausen Disease
Abnormality of the vertebral column, Metaphyseal dysplasia, Hypoplastic acetabulae, Epiphyseal dy... ORPHA:239
Osteopathia Striata-Cranial Sclerosis Syndrome
Cleft palate, Asymmetry of the thorax, Delayed eruption of teeth, Increased bone mineral density,... ORPHA:2780
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet
Broad metatarsal, Micrognathia, Brachycephaly, Trigonocephaly, Broad phalanx, Prominent metopic r... OMIM:275595
Kagami-Ogata Syndrome
Long clavicles, Micrognathia, Thin ribs, Long philtrum, Long fingers, Limb undergrowth, Pulmonary... OMIM:608149
Craniolenticulosutural Dysplasia
Carious teeth, Smooth philtrum, High palate, Microdontia, Wide mouth, Long philtrum, Premature lo... ORPHA:50814
Schneckenbecken Dysplasia
Cleft palate, Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Midface retrusio... OMIM:269250
Spondylocostal Dysostosis 3, Autosomal Recessive
Kyphosis, Slender finger, Scoliosis, Rib fusion, Hypoplasia of the odontoid process, Vertebral se... OMIM:609813
Subaortic Stenosis--Short Stature Syndrome
Pectus excavatum, Diastema, Shield chest, Midface retrusion, Broad finger, Broad toe, Small hand,... OMIM:271960
Spondylocostal Dysostosis-Hypospadias-Intellectual Disability Syndrome
Cutaneous finger syndactyly, Swan neck-like deformities of the fingers, Abnormality of the maxill... ORPHA:329252
Craniosynostosis 2
Brachyturricephaly, Triphalangeal thumb, Brachycephaly, Cleft soft palate, Trigonocephaly, Cranio... OMIM:604757
Diamond-Blackfan Anemia 11
Hypoplasia of the radius, Abnormal digit morphology, Absent thumb, Forearm reduction defects, Hyp... OMIM:614900
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Postaxial polydactyly, Narrow chest, Bell-shaped thorax, ... OMIM:615633
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Pectus excavatum, Smooth philtrum, High palate, Diastema, Talipes equinovarus, Micrognathia, Mand... OMIM:300534
Aarskog-Scott Syndrome
Broad palm, Hypodontia, Cleft palate, Pectus excavatum, Single transverse palmar crease, Curved l... OMIM:305400
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ... ORPHA:56304
Apert Syndrome
Brachyturricephaly, Cleft palate, Cloverleaf skull, Aplasia/Hypoplasia of the thumb, Delayed erup... ORPHA:87
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Schinzel-Giedion Midface Retraction Syndrome
Talipes equinovarus, Hypoplasia of first ribs, Thickened cortex of long bones, Malar flattening, ... OMIM:269150
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Dental malocclusion, Dental crowding, Midface retrusion, Long philtrum, Cleft soft ... OMIM:616331
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
C1-C2 subluxation, Epiphyseal stippling, Long fibula, Short ribs, Atlantoaxial instability, Hip s... OMIM:271665
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Radial bowing, Subcutaneous calcification OMIM:617993
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Micrognathia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Aplasia/Hypoplasi... ORPHA:2256
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Widely spaced teeth, High palate, Cone-shaped epiphysis, Microdontia, Wide mouth, Macroglossia, T... OMIM:266920
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Meier-Gorlin Syndrome 3
Thick lower lip vermilion, Aplasia/Hypoplasia of the patella, Genu varum, Microretrognathia, Micr... OMIM:613803
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Prematu... OMIM:607078
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Wormian bones, Pathologic fracture, Sh... ORPHA:166277
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Intervertebral space narrowing, Broad tibial metaphyses, I... OMIM:271630
Nablus Mask-Like Facial Syndrome
Smooth philtrum, High palate, Tapered finger, Long philtrum, Craniosynostosis, Joint contracture ... OMIM:608156
Osteogenesis Imperfecta, Type V
Limited pronation/supination of forearm, Pes planus, Wormian bones, Osteopenia, Joint hypermobili... OMIM:610967
Oligodontia, Short ribs, Delayed eruption of teeth, Absent frontal sinuses, Progressive bowing of... OMIM:224300
Ear-Patella-Short Stature Syndrome
Cleft palate, Aplastic clavicle, Camptodactyly of finger, Respiratory failure, Hypoplasia of the ... ORPHA:2554
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Cubitus valgus, Finger syndactyly, Hypoplasia of the maxilla, T... ORPHA:193
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Irregular epiphyses, Shield chest, Hip osteoarthritis, Hypoplastic iliac wing, Platyspondyly, Kyp... OMIM:313400
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Cranioectodermal Dysplasia
Abnormal dental enamel morphology, Finger syndactyly, Hypodontia, Microdontia, Osteoporosis, Fron... ORPHA:1515
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Smooth philtrum, Neonatal respiratory distress, Talipes e... OMIM:251450
Desbuquois Dysplasia 2
Monkey wrench femoral neck, Genu varum, Cleft palate, Neonatal respiratory distress, Epiphyseal d... OMIM:615777
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Cleidocranial Dysplasia
Cleft palate, Neonatal respiratory distress, Abnormal facility in opposing the shoulders, Aplasti... OMIM:119600
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Distal arthrogryposis, Micrognathia, Ankle flexion contracture, Hip contracture, Talipes equinova... OMIM:617468
Hereditary Sensory And Autonomic Neuropathy Type 2
Abnormality of the knee, Tapered finger, Foot acroosteolysis, Abnormality of epiphysis morphology... ORPHA:970
Autosomal Recessive Kenny-Caffey Syndrome
Cortical thickening of long bone diaphyses, Carious teeth, Thin clavicles, Thin ribs, Thin long b... ORPHA:93324
Stickler Syndrome, Type Ii
High, narrow palate, Micrognathia, Cleft palate, Pierre-Robin sequence, Long fingers, Malar flatt... OMIM:604841
Multiple Osteochondromas
Short lower limbs, Abnormal lower limb bone morphology, Abnormality of the knee, Femoroacetabular... ORPHA:321
Oncogenic Osteomalacia
Abnormal foot morphology, Tibial bowing, Abnormality of femur morphology, Fibrous dysplasia of th... ORPHA:352540
Acrodysostosis 1 With Or Without Hormone Resistance
Broad palm, Hypodontia, Midface retrusion, Epiphyseal stippling, Mandibular prognathia, Short met... OMIM:101800
Arthrogryposis, Distal, Type 3
Distal arthrogryposis, Cutaneous finger syndactyly, Cleft palate, Talipes equinovarus, Camptodact... OMIM:114300
Spondyloepimetaphyseal Dysplasia, Strudwick Type
C1-C2 subluxation, Metaphyseal dappling, Anterior rib cupping, Pectus carinatum, Delayed pubic bo... OMIM:184250
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Pectus carinatum, Tapered finger, Short finger, Platyspondyly, Knee flexion cont... OMIM:313420
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Florid Cemento-Osseous Dysplasia
Abnormal number of teeth, Abnormal cementum morphology, Periapical bone loss, Supernumerary tooth... ORPHA:83451
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Short 5th finger, Short foot, Postaxial oligodactyly, Aplasia/Hypoplasia of ... ORPHA:52056
Orofaciodigital Syndrome Ix
Toe syndactyly, Recurrent aspiration pneumonia, Hand polydactyly, Camptodactyly, Short tibia OMIM:258865
Diastrophic Dysplasia
Irregular epiphyses, Costal cartilage calcification, Hip contracture, Talipes equinovarus, Short ... OMIM:222600
Osteogenesis Imperfecta, Type Xii
Brachyturricephaly, Micrognathia, High palate, Pectus carinatum, Osteoporosis, Malar flattening, ... OMIM:613849
Marshall Syndrome
Thick lower lip vermilion, Micrognathia, Cleft palate, High palate, Thickened calvaria, Long phil... ORPHA:560
Antley-Bixler Syndrome
Femoral bowing, Cleft palate, Elbow ankylosis, Long philtrum, Talipes, Brachycephaly, Narrow pelv... ORPHA:83
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Patellar subluxation, Osteoporosis, Supernumerary ribs, Retrognathia, Abnormal number of incisors... ORPHA:2958
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Platyspondyly, Coxa vara, Limitation of joint mobility, Short palm, M... ORPHA:168555
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Diastema, Cleft upper lip, Cleft lower lip, Fusion of gums, Abnormal mandibl... ORPHA:401942
Eiken Syndrome
Short middle phalanx of finger, Midface retrusion, Oligodontia, Pseudoepiphyses, Long hallux, Typ... OMIM:600002
Cleft Velum
Cleft soft palate, Hypoplasia of the maxilla, Velopharyngeal insufficiency, Aspiration pneumonia ORPHA:99772
Lowry-Maclean Syndrome
Pyloric stenosis, High, narrow palate, Midgut malrotation, Cleft palate, Micrognathia, Small ante... ORPHA:2409
Autosomal Dominant Spondylocostal Dysostosis
Abnormal sacrum morphology, Posterior rib fusion, Missing ribs, Short thorax, Spina bifida occult... ORPHA:1797
Craniodiaphyseal Dysplasia, Autosomal Dominant
Thickened ribs, Mandibular prognathia, Diaphyseal sclerosis, Craniofacial hyperostosis, Cortical ... OMIM:122860
Craniosynostosis-Mental Retardation-Clefting Syndrome
Lower limb undergrowth, Craniosynostosis, Forearm undergrowth OMIM:218650
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Cleft palate, Brachycephaly, Craniosynostosis, Malar flattening, Split hand, Finger... ORPHA:2145
Zimmermann-Laband Syndrome 3
Thick lower lip vermilion, High palate, Triphalangeal thumb, Gingival overgrowth, Bifid uvula, Lo... OMIM:618658
Plagiocephaly, Cleft palate, Respiratory insufficiency, Hypoplastic scapulae, Abnormality of the ... ORPHA:2021
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Smooth philtrum, High palate, Increased laxity of ankles, Pectus carinat... ORPHA:481152
Weill-Marchesani Syndrome 1
Broad metatarsal, Broad palm, Thin bony cortex, Brachycephaly, Tooth malposition, Narrow palate, ... OMIM:277600
Neuralgic Amyotrophy
Cleft palate, Respiratory insufficiency, Acrocyanosis, Sprengel anomaly, Narrow mouth, Scapular w... ORPHA:2901
Bruck Syndrome 1
Ankle flexion contracture, Hip contracture, Talipes equinovarus, Vertebral wedging, Pectus carina... OMIM:259450
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Pectus carinatum, Delayed ossification of carpal bones, Brachydactyly, Kyphosis OMIM:618392
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Abnormal sacrum morphology, Coxa vara, Sprengel anomaly, Hip d... ORPHA:1988
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Temple Syndrome
Micrognathia, Cleft palate, High palate, Short philtrum, Small hand, Bifid uvula, Joint hypermobi... OMIM:616222
Schinzel-Giedion Syndrome
Delayed eruption of teeth, Short 1st metacarpal, Camptodactyly, Broad alveolar ridges, Radioulnar... ORPHA:798
Crouzon Disease
Respiratory insufficiency, Midface retrusion, Brachycephaly, Frontal bossing, Narrow palate, Turr... ORPHA:207
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla, Craniosynostosis OMIM:608432
Meier-Gorlin Syndrome 4
Thick lower lip vermilion, Micrognathia, Patellar aplasia, Lateral clavicle hook, Genu recurvatum... OMIM:613804
Juberg-Hayward Syndrome
Toe syndactyly, Abnormality of the elbow, Abnormal vertebral morphology, Hammertoe, Hypoplasia of... ORPHA:2319
Anauxetic Dysplasia 3
Plagiocephaly, Pectus excavatum, Short middle phalanx of finger, Midface retrusion, Oligodontia, ... OMIM:618853
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... ORPHA:2669
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Pulmonary hypoplasia, Pectus carinatum, Polysyndactyly of hallux, Lateral clavic... OMIM:263520
Ruvalcaba Syndrome
Short metatarsal, Small hand, Kyphosis, Short metacarpal, Short foot, Narrow chest, Limited elbow... OMIM:180870
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Micrognathia, Cleft palate, Adducted thumb, Decreased fibular diameter, Brac... OMIM:616897
Alagille Syndrome
Micrognathia, Peripheral pulmonary artery stenosis, Abnormal form of the vertebral bodies, Spina ... ORPHA:52
Lethal Congenital Contracture Syndrome 1
Micrognathia, Neonatal death, Arthrogryposis multiplex congenita, Abnormal thorax morphology, Pul... OMIM:253310
Heart-Hand Syndrome Type 2
Abnormal palate morphology, Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elb... ORPHA:1350
Otopalatodigital Syndrome Type 1
Cleft palate, Thickened calvaria, Oligodontia, Anodontia, Hypoplastic frontal sinuses, Abnormal v... ORPHA:90650
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Cardiocranial Syndrome, Pfeiffer Type
High, narrow palate, Micrognathia, Deep palmar crease, Temporomandibular joint ankylosis, Bifid u... ORPHA:2872
Autosomal Dominant Brachyolmia
Kyphoscoliosis, Short thorax, Abnormality of the metaphysis, Platyspondyly, Increased vertebral h... ORPHA:93304
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome
Tibial bowing, Fibular bowing, Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Femora... ORPHA:85165
Gorlin-Chaudhry-Moss Syndrome
Abnormal foot morphology, Oligodontia, Brachycephaly, Short distal phalanx of finger, Coronal cra... ORPHA:2095
Brachydactyly-Preaxial Hallux Varus Syndrome
Abnormal palate morphology, Micrognathia, Radial club hand, Broad thumb, Short metatarsal, Fronta... ORPHA:1278
Greig Cephalopolysyndactyly Syndrome
1-3 toe syndactyly, Broad hallux phalanx, Metopic synostosis, Broad thumb, 3-4 finger syndactyly,... OMIM:175700
Mucopolysaccharidosis, Type Iva
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... OMIM:253000
Otopalatodigital Syndrome, Type I
Cleft palate, Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Malar flatten... OMIM:311300
Neuronopathy, Distal Hereditary Motor, Type Viii
Hip contracture, Talipes equinovarus, Proximal lower limb amyotrophy, Arthrogryposis multiplex co... OMIM:600175
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Enlarged epiphyses, Genu varum, Metaphyseal dysplasia, Metaphyseal irregularity, Pseudoepiphyses ... OMIM:613330
Rare Circulatory System Disease
Abnormal foot morphology, Abnormality of the knee, Abnormal metatarsal morphology, Enlargement of... ORPHA:98028
Short middle phalanx of finger, Limited elbow extension, Restrictive ventilatory defect, Trident ... ORPHA:15
Mosaic Trisomy 14
Micrognathia, High palate, Cleft palate, Ectopic anus, Wide mouth, Lower limb asymmetry, Frontal ... ORPHA:1703
Omodysplasia 1
Limited elbow flexion, Micrognathia, Rhizomelia, Limited knee flexion/extension, Fibular hypoplas... OMIM:258315
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Thin ribs, Limb undergrowth, Short ribs, Severe platyspondyly, Disc-like ver... OMIM:151210
Spondyloepiphyseal Dysplasia, Stanescu Type
Stiff neck, Beaking of vertebral bodies, Kyphoscoliosis, Platyspondyly, Joint stiffness, Coxa val... OMIM:616583
Spondylometaphyseal Dysplasia, Algerian Type
Short greater sciatic notch, Metaphyseal dysplasia, Flared femoral metaphysis, Anterior rib cuppi... OMIM:184253
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Pectus excavatum, High palate, Long palm, Pectus carinatum, Mandibular prognathia, Long foot, Nar... OMIM:300676
Meier-Gorlin Syndrome 5
Micrognathia, Patellar aplasia, Long philtrum, Slender long bone, Hypoplasia of the capital femor... OMIM:613805
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Micrognathia, Clinodactyly ORPHA:357175
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Hip osteoarthritis, Avascular necrosis of the capital femor... OMIM:132400
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short toe, Short phalanx of finger, Bruising susceptibility, Hypodontia, Micrognathia, Gingival b... OMIM:225410
Bethlem Myopathy 2
Kyphosis, Hip dislocation, Flexion contracture, Scapular winging, Distal joint laxity, Scoliosis OMIM:616471
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal dysplasia, Genu varum, Irregular chondrocostal junctions, Metaphyseal irregularity, S... OMIM:250420
Sclerotic vertebral body, Abnormal form of the vertebral bodies, Abnormal cortical bone morpholog... ORPHA:2777
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles OMIM:264270
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla, Short distal phalanx of finger OMIM:300266
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
2-3 toe syndactyly, Microretrognathia, Talipes equinovarus, Neonatal death, Stillbirth, Arthrogry... OMIM:236500
Fibrous Dysplasia Of Bone
Abnormality of the ulna, Fibrous dysplasia of the bones, Rickets, Abnormal bone structure, Patchy... ORPHA:249
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Pectus excavatum, Osteoporosis, Osteopenia, Ankle clonus, Hypoplasia of the ulna, Scoliosis OMIM:615398
Spondyloepimetaphyseal Dysplasia With Joint Laxity
Talipes equinovarus, Limited elbow extension, Elbow flexion contracture, Micrognathia, Pectus car... ORPHA:93359
Thoracomelic Dysplasia
Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Short ribs, Genu valgum, ... ORPHA:1803
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Thoracic hypoplasia, Pectus excavatum, Bowing of the legs, Limb undergrowth, Limited elbow extens... ORPHA:156728
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Upper limb undergrowth, Dysplasia of the femoral head, Reduced bone min... ORPHA:94068
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Cervical subluxation, Metaphyseal widening, Pointed prox... OMIM:253010
Thanatophoric Dysplasia
Abnormal ilium morphology, Abnormal sacroiliac joint morphology, Short thorax, Platyspondyly, Abn... ORPHA:2655
Baller-Gerold Syndrome
Brachyturricephaly, Cleft palate, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Shor... OMIM:218600
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Small epiphyses, Discolored lateral incisors, Conical mandibular incisor, Oligodontia, Tapered fi... OMIM:601668
Lower limb asymmetry, Osteoarthritis, Kyphoscoliosis, Generalized joint laxity, Platyspondyly, Ab... ORPHA:85198
Saethre-Chotzen Syndrome
Hallux valgus, Cleft palate, Malar flattening, Oxycephaly, Syndactyly, Delayed cranial suture clo... OMIM:101400
Microcephaly-Capillary Malformation Syndrome
Cleft palate, Short distal phalanx of finger, Hypoplasia of the maxilla, Clinodactyly, Brachydactyly OMIM:614261
Rapp-Hodgkin Syndrome
Anhidrotic ectodermal dysplasia, Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Velophar... OMIM:129400
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Mental Retardation, Autosomal Recessive 35
Hypoplasia of the ulna, Micrognathia, Clinodactyly OMIM:615162
Brachytelephalangic Chondrodysplasia Punctata
C1-C2 subluxation, Central apnea, Neonatal respiratory distress, Epiphyseal stippling, Short dist... ORPHA:79345
Tibia, Absence Or Hypoplasia Of, With Polydactyly, Retrocerebellar Arachnoid Cyst, And Other Anomalies
Radial bowing, Talipes equinovarus, Cleft upper lip, Abnormal thorax morphology, Postaxial foot p... OMIM:601027
Menkes Disease
Brachycephaly, Metaphyseal widening, Joint laxity, Osteoporosis, Wormian bones, Death in childhoo... OMIM:309400
Eye Defects-Arachnodactyly-Cardiopathy Syndrome
Cleft palate, Bowing of the long bones, Arachnodactyly, Sandal gap, Non-midline cleft lip, Cranio... ORPHA:2725
Atelosteogenesis Type I
Thoracic hypoplasia, Micrognathia, Absent or minimally ossified vertebral bodies, Coronal cleft v... ORPHA:1190
Weill-Marchesani Syndrome 2
Broad metatarsal, Broad palm, High palate, Thin bony cortex, Flexion contracture of toe, Short fi... OMIM:608328
Osteogenesis Imperfecta, Type Xviii
Micrognathia, Thin bony cortex, Thin ribs, Bowing of the long bones, Wormian bones, Generalized o... OMIM:617952
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal foot morphology, Irregular acetabular roof, Pectus carinatum, Kyphoscoliosis, Platyspond... OMIM:184252
Mandibulofacial Dysostosis-Microcephaly Syndrome
Micrognathia, Cleft palate, Trigonocephaly, Accessory oral frenulum, Malar flattening, Preaxial h... ORPHA:79113
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Steep acetabular roof, Short clavicles, Micrognathia, Midface r... ORPHA:313855
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex, Short 5th metacarpal, Rhizomelia, Pes planus, Wormian bones, Thoracic kyphosis,... OMIM:619638
Osteogenesis Imperfecta, Type Vii
Decreased calvarial ossification, Pectus excavatum, Death in infancy, Bowing of the legs, Long ph... OMIM:610682
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Aplasia/Hypoplasia of the lungs, Triphalangeal thumb, Abnormal lung lobation, P... ORPHA:1120
Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome
Genu varum, Epiphyseal stippling, Bowing of the long bones, Coarse metaphyseal trabecularization,... ORPHA:1952
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Short distal phalanx of hallux, Bifid distal phalanx of the thumb, Partial duplication of the dis... OMIM:256200
Postaxial Acrofacial Dysostosis
Abnormal foot morphology, Micrognathia, Pectus excavatum, Congenital hip dislocation, Hypoplasia ... OMIM:263750
Metatarsus adductus, Limb joint contracture, Talipes equinovarus, Aplasia/hypoplasia involving bo... ORPHA:356961
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Micrognathia, Thin ribs, Talipes equinovarus, Phocomelia, Pneumothorax, Neonatal... OMIM:266910
Spondyloepimetaphyseal Dysplasia With Multiple Dislocations
Genu varum, Fragmented epiphyses, Aplasia/hypoplasia of the extremities, Metaphyseal irregularity... ORPHA:93360
Spondylocostal Dysostosis 2, Autosomal Recessive
Hemivertebrae, Vertebral clefting, Recurrent respiratory infections, Rib fusion, Short neck, Vert... OMIM:608681
White Forelock With Malformations
Abnormal palate morphology, Deep philtrum, Finger syndactyly, Sprengel anomaly, Abnormal rib morp... ORPHA:2475
Mesomelia-Synostoses Syndrome
Abnormal foot morphology, Abnormality of the knee, Malar flattening, Synostosis of joints, Brachy... ORPHA:2496
Branchioskeletogenital Syndrome
Carious teeth, Upper limb peromelia, Amelia involving the lower limbs, Hypoplasia of the maxilla,... ORPHA:1299
Mucolipidosis Iii Gamma
Flat capital femoral epiphysis, Pectus carinatum, Kyphosis, Genu valgum, Hyperlordosis, Abnormal ... OMIM:252605
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum
Alveolar process hypoplasia, Maxillozygomatic hypoplasia, Eruption failure, Genu valgum, Multiple... OMIM:273050
X-Linked Hypophosphatemia
Genu varum, Rickets, Reduced bone mineral density, Odontodysplasia, Bowing of the legs, Generaliz... ORPHA:89936
Distal Xq28 Microduplication Syndrome
Thick lower lip vermilion, Metatarsus adductus, High palate, Short lingual frenulum, Epistaxis, O... ORPHA:293939
Tetrasomy 5P
Pectus excavatum, High palate, Micrognathia, Midface retrusion, Talipes equinovarus, Long philtru... ORPHA:3309
Scheuermann Disease
Morbus Scheuermann, Kyphosis OMIM:181440
Achondrogenesis, Type Ii
Abnormal foot morphology, Horizontal ribs, Broad long bones, Cleft palate, Hypoplastic iliac wing... OMIM:200610
Brachydactyly Type C
Stippling of the epiphysis of the distal phalanx of the thumb, Short middle phalanx of finger, Co... ORPHA:93384
Holzgreve Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the lungs, Abnormal rib morphology, Hand polydacty... ORPHA:2167
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Pectus excavatum, Postaxial polydactyly, Short finger, Foot polydac... OMIM:258860
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Long fibula, Broad femoral metaphyses, Short long bone, Broad ... ORPHA:2502
Campomelia, Cumming Type
Abnormal intestine morphology, Cleft palate, Death in infancy, Bowing of the long bones, Abnormal... ORPHA:1318
Postaxial Acrofacial Dysostosis
Micrognathia, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of finger, Hypoplasia of... ORPHA:246
Rhizomelic Syndrome, Urbach Type
Micrognathia, Cleft palate, Triphalangeal thumb, High palate, Abnormality of the knee, Abnormalit... ORPHA:3098
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Cleft palate, Genu valgum, Short foot, Short metacarpal, Narrow mouth, Patellar dis... OMIM:614078
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the patella, Genu varum... ORPHA:3320
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Cleft palate, Midface retrusion, Hypoplastic scapulae, Metaphyseal widening, Rhizom... ORPHA:440354
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Long clavicles, Pectus excavatum, High palate, Thickened calvaria, Large fontanelles, Osteoporosi... OMIM:259100
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Plagiocephaly, Micrognathia, Cleft palate, Thin ribs, Trigonocephaly, Craniosynostosis, Arthrogry... OMIM:618265
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Amelia, Toe syndactyly, Decreased skull ossification, Syndactyly, Clinodactyly of the 5th finger,... OMIM:601163
Mental Retardation, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Cole-Carpenter Syndrome 2
Pectus excavatum, High palate, Thin ribs, Wormian bones, Osteopenia, Narrow iliac wing, Frontal b... OMIM:616294
Osteogenesis Imperfecta, Type Xiii
Pectus carinatum, Long philtrum, Osteoporosis, Thin vermilion border, Dislocated radial head, Ara... OMIM:614856
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of finger, Short poin... OMIM:263540
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Limb undergrowth, Metaphyseal irregularity, Platyspondyly, Short ribs, Vertebral hypo... OMIM:602557
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Mucopolysaccharidosis Type 4
Carious teeth, Wide mouth, Pectus carinatum, Abnormality of epiphysis morphology, Bowing of the l... ORPHA:582
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Large posterior fontanelle, Cleft palate, Aplastic clavicle, Abnormal dental enamel morphology, S... ORPHA:85199
Short Stature-Wormian Bones-Dextrocardia Syndrome
Micrognathia, High palate, Abnormality of the philtrum, Wormian bones, Delayed eruption of teeth,... ORPHA:2863
Lethal Osteosclerotic Bone Dysplasia
Micrognathia, Large fontanelles, Median cleft lip and palate, Mandibular aplasia, Gingival overgr... ORPHA:1832
Distal Monosomy 17Q
Respiratory insufficiency, Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Small ha... ORPHA:1597
Chromosome 16Q22 Deletion Syndrome
Micrognathia, High palate, Wormian bones, Frontal bossing, Wide anterior fontanel, Hip dysplasia,... OMIM:614541
Myhre Syndrome
2-3 toe syndactyly, Cleft palate, Malar flattening, Cleft lip, Thin upper lip vermilion, Short to... OMIM:139210
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizomelia, Distal shorten... OMIM:300863
Brachymesomelia-Renal Syndrome
Micrognathia, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia, Hypoplasia of the radiu... OMIM:113470
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Verteb... ORPHA:959
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Metaphyseal irregularity, Malar flattening, Streaky metaphyseal sclerosis, Carpal bone hypoplasia... OMIM:603546
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Cleft palate, Midface retrusion, Retrognathia, Acetabular dysplasia, Femoral bowing... OMIM:616462
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Abnormal foot morphology, Micrognathia, Talipes equinovarus, Hand clenching, Congenital hip dislo... OMIM:618291
Cleft Lip/Palate
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... ORPHA:199306
Progressive Pseudorheumatoid Dysplasia
Enlargement of the proximal femoral epiphysis, Enlarged epiphyses, Genu varum, Enlarged metacarpo... OMIM:208230
Cerebrofacioarticular Syndrome
Irregular dentition, Micrognathia, Talipes equinovarus, Large fontanelles, Osteopenia, Syndactyly... ORPHA:314679
Aphalangy With Hemivertebrae
Hemivertebrae, Aphalangy of hands and feet, Pulmonary hypoplasia, Aplasia of the phalanges of the... OMIM:207620
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Pectus excavatum, Pectus carinatum, Tapered finger, Large hands, Kyphosis, Scoliosis ORPHA:276630
Cole-Carpenter Syndrome
Micrognathia, Bowing of the long bones, Abnormal dental enamel morphology, Abnormality of the met... ORPHA:2050
Phaver Syndrome
Broad hallux phalanx, Butterfly vertebrae, Triphalangeal thumb, Ulnar deviation of finger, Abnorm... ORPHA:2876
Spondylometaphyseal Dysplasia, Sedaghatian Type
Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ... OMIM:250220
Spondylospinal Thoracic Dysostosis
Micrognathia, Pulmonary hypoplasia, Short thorax, Arthrogryposis multiplex congenita OMIM:601809
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Abnormality of the knee, Malar flattening, Congenital hip dislocation... ORPHA:2412
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Pes cavus, Scoliosis, Kyphosis OMIM:617087
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Long philtrum, Biparietal narrowing, Thick vermilion border, Hypoplasia of the maxilla, Clinodact... ORPHA:228396
Familial Scheuermann Disease
Abnormal form of the vertebral bodies, Kyphosis ORPHA:3135
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Widely spaced teeth, Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sh... OMIM:617102
Cooper-Jabs Syndrome
Respiratory insufficiency, Brachycephaly, Missing ribs, Proximal placement of thumb, Malar flatte... ORPHA:1488
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Sandal gap, Oligodontia of primary teeth, Short hallux, No permanent dentition OMIM:216300
Fetal Akinesia Deformation Sequence 4
Micrognathia, Rocker bottom foot, Arthrogryposis multiplex congenita, Kyphosis, Flexion contractu... OMIM:618393
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Hypodontia, Tapered finger, Short toe, Joint dislocation, Glossoptosis, Abno... ORPHA:3201
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Micrognathia, Cleft palate, Microdontia of primary teeth, High palate, Talipes equinovarus, Bifid... OMIM:213980
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Short greater sciatic notch, Respiratory insufficiency, Wide-cu... OMIM:187600
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Smooth philtrum, Midface retrusion, Thin upper lip vermilion, Widely-spaced incisors, Hypoplasia ... OMIM:618737
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Triphalangeal thumb, Pectoralis hypoplasia, Hypoplasia of the radius... OMIM:607323
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Large fontanelles, Tachypnea, Pulmonary arterial hypertension, Short ribs, D... OMIM:613320
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Brachycephaly, Malar flattening, Hip dislocation, Coxa valga, Hypoplasia of the maxilla OMIM:109120
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... OMIM:187601
Osteoporosis-Pseudoglioma Syndrome
Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metaphyseal widening,... ORPHA:2788
Myopathic Ehlers-Danlos Syndrome
Talipes equinovarus, Joint contracture of the hand, Pes planus, Elbow flexion contracture, Contra... ORPHA:536516
Orofaciodigital Syndrome Xviii
Short middle phalanx of finger, Diastema, Short philtrum, Postaxial polydactyly, Accessory oral f... OMIM:617927
Frontometaphyseal Dysplasia 1