Gene: Tbx15 MGI:1277234

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

T-box 15

Synonyms:

de, Tbx8, Tbx14

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 Tbx15 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 Tbx15 (2 diseases)
Human diseases predicted to be associated with Tbx15 (1795 diseases)

The table below shows human diseases associated to Tbx15 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Pelviscapular Dysplasia		Mesomelic leg shortening, Abnormal pinna morphology, Low-set ears, Deeply set eye, Hypertelorism,...	ORPHA:93333
Cousin Syndrome		Facial hirsutism, Microtia, first degree, Rhizomelia, Absent proximal finger flexion creases, Cli...	OMIM:260660

The table below shows human diseases predicted to be associated to Tbx15 by phenotypic similarity.

Disease	Matching phenotypes	Source
Ulnar Hemimelia	Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia...	ORPHA:93320
Smith-Mccort Dysplasia 1	Prominent sternum, Barrel-shaped chest, Platyspondyly, Genu valgum, Metaphyseal irregularity, Dol...	OMIM:607326
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C...	OMIM:607778
Fibrochondrogenesis 1	Abnormal pinna morphology, Platyspondyly, Short neck, Short nose, Rhizomelia, Proptosis, Dumbbell...	OMIM:228520
Trigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, And Abnormalities Of The Hands And Feet	Broad phalanx, Bulbous nose, Micrognathia, Bifid nose, Bifid nasal tip, Broad metatarsal, Brachyc...	OMIM:275595
Multiple Epiphyseal Dysplasia With Robin Phenotype	Pectus excavatum, Hypoplasia of the capital femoral epiphysis, Genu valgum, Rhizomelia, Talipes e...	OMIM:601560
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Metaphyseal dysplas...	OMIM:250460
Pelviscapular Dysplasia	Mesomelic leg shortening, Abnormal pinna morphology, Low-set ears, Deeply set eye, Hypertelorism,...	ORPHA:93333
Pseudoachondroplasia	Irregular carpal bones, Cone-shaped epiphysis, Platyspondyly, Hypoplasia of the capital femoral e...	ORPHA:750
Spondyloepimetaphyseal Dysplasia, Irapa Type	Coxa vara, Metaphyseal dysplasia, Lumbar hyperlordosis, Hypoplastic sacrum, Osteoarthritis, Platy...	OMIM:271650
Schneckenbecken Dysplasia	Macrocephaly, Short neck, Platyspondyly, Ovoid vertebral bodies, Dumbbell-shaped long bone, Midfa...	OMIM:269250
Fibrochondrogenesis	Narrow chest, Wide anterior fontanel, Hypertelorism, Short ribs, Camptodactyly of finger, Short n...	ORPHA:2021
Dyggve-Melchior-Clausen Disease	Cone-shaped epiphyses of the phalanges of the hand, Prominent sternum, Femoral bowing, Barrel-sha...	OMIM:223800
Epiphyseal Dysplasia, Multiple, 1	Irregular vertebral endplates, Joint stiffness, Delayed epiphyseal ossification, Epiphyseal dyspl...	OMIM:132400
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Flattened femoral head, Abnormality of the vertebral endplates, Platyspondyly, Irregular epiphyse...	ORPHA:1856
Thanatophoric Dysplasia, Type Ii	Narrow chest, Wide-cupped costochondral junctions, Small abnormally formed scapulae, Metaphyseal ...	OMIM:187601
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Micromelia, Upper limb undergrowth, Pectus carinatum, Hypoplastic pelvis, Genu val...	ORPHA:93351
Rhizomelic Dysplasia, Ain-Naz Type	Short femur, Short humerus, Platyspondyly, Hypoplasia of the femoral head, Wide distal femoral me...	OMIM:619598
Spondylometaphyseal Dysplasia, Kozlowski Type	Abnormal humeral metaphysis morphology, Platyspondyly, Pectus carinatum, Premature osteoarthritis...	ORPHA:93314
Multiple Epiphyseal Dysplasia Type 4	Abnormal pinna morphology, Short metacarpal, Arthralgia of the hip, Abnormal hand morphology, Upp...	ORPHA:93307
Metaphyseal Acroscyphodysplasia	Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Platyspondyly, Biconcave ve...	OMIM:250215
Symbrachydactyly Of Hands And Feet	Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,...	ORPHA:1570
Saul-Wilson Syndrome	Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Wide anterior...	OMIM:618150
Atelosteogenesis, Type I	Aplasia/Hypoplasia of the ulna, Short neck, 11 pairs of ribs, Short nose, Rhizomelia, Multinuclea...	OMIM:108720
Desbuquois Dysplasia 1	Radial deviation of the 2nd finger, Short 1st metacarpal, Platyspondyly, Short neck, Monkey wrenc...	OMIM:251450
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Talipes equinovarus, Flat capital femoral epiphysis, Scoliosis, Brachydacty...	OMIM:226900
Acrodysostosis	Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Hypoplasia of the ulna, Short nose, ...	ORPHA:950
Brachydactyly Type A1	Broad metacarpals, Clinodactyly of the 5th finger, Talipes equinovarus, Distal symphalangism of h...	ORPHA:93388
Platyspondylic Dysplasia, Torrance Type	Short distal phalanx of finger, Low-set ears, Narrow chest, Metaphyseal cupping, Platyspondyly, M...	ORPHA:85166
Spondyloperipheral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Barrel-shaped chest, Platyspondyly, Shortenin...	OMIM:271700
Rhizomelic Dysplasia, Patterson-Lowry Type	Coxa vara, Deformed humeral heads, Short humerus, Brachydactyly, Abnormal form of the vertebral b...	ORPHA:2831
Rhizomelic Chondrodysplasia Punctata, Type 5	Metaphyseal irregularity, Coxa vara, Thoracic scoliosis, Talipes equinovarus, Metaphyseal cupping...	OMIM:616716
Isotretinoin Syndrome	Microtia, Micrognathia, Spina bifida occulta, Biparietal narrowing, Sacral dimple	ORPHA:2305
Robin Sequence-Oligodactyly Syndrome	Clinodactyly of the 5th finger, Abnormal morphology of ulna, Hand oligodactyly, Micrognathia, Abn...	ORPHA:3104
Acromesomelic Dysplasia 2A	Stillbirth, Flexion contracture, Short femur, Hypoplasia of the radius, Short tibia, Short humeru...	OMIM:200700
Rhizomelic Dysplasia, Patterson-Lowry Type	Coxa vara, Deformed humeral heads, Platyspondyly, Brachydactyly, Short humerus, Rhizomelia, Short...	OMIM:601438
Ritscher-Schinzel Syndrome 3	Wide anterior fontanel, Shortening of all distal phalanges of the fingers, Short 1st metacarpal, ...	OMIM:619135
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Vertebral segmentation defect, Abnormal hip bone morphology, Micrognathia, Camptodactyly of finge...	ORPHA:1323
Brachydactyly, Type A1	Short distal phalanx of finger, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle ...	OMIM:112500
Acromicric Dysplasia	Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epiphysis, Short phalanx of fing...	OMIM:102370
Achondrogenesis, Type Ia	Hypoplastic sacrum, Hypoplasia of the radius, Barrel-shaped chest, Short neck, Micromelia, Short ...	OMIM:200600
Rhizomelic Chondrodysplasia Punctata, Type 2	Irregular vertebral endplates, Flexion contracture, Osteopenia, Micrognathia, Short humerus, Scol...	OMIM:222765
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short femur, Hypoplasia of the radius, Short tibia, Absent ossification of cervical vertebral bod...	OMIM:601376
Trichorhinophalangeal Syndrome, Type Iii	Protruding ear, Cone-shaped epiphyses of the middle phalanges of the hand, Sparse hair, Osteopeni...	OMIM:190351
Leri-Weill Dyschondrosteosis	Hypoplasia of the radius, Abnormality of the humerus, Dorsal subluxation of ulna, Hypoplasia of t...	OMIM:127300
Acromicric Dysplasia	Joint stiffness, Fifth metacarpal with ulnar notch, Abnormality of femur morphology, Abnormal eye...	ORPHA:969
Acromesomelic Dysplasia 4	Broad phalanx, Hypertrichosis, Prominent sternum, Platyspondyly, Broad finger, Genu valgum, Rhizo...	OMIM:619636
Ruvalcaba Syndrome	Narrow chest, Kyphosis, Small hand, Scoliosis, Micromelia, Limited elbow extension, Short phalanx...	OMIM:180870
Otopalatodigital Syndrome, Type Ii	Pectus excavatum, Radial deviation of the 2nd finger, Femoral bowing, Platyspondyly, Congenital h...	OMIM:304120
Congenital Radioulnar Synostosis	Dislocated radial head, Abnormality of the musculature of the upper arm, Limited pronation/supina...	ORPHA:3269
Brachydactyly Type C	Clinodactyly of the 5th finger, Stippling of the epiphysis of the distal phalanx of the thumb, Ps...	ORPHA:93384
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Dislocated radial head, Conductive hearing impairment, Deeply set eye, Talipes equinovarus, Hypot...	OMIM:602471
Osteoglophonic Dysplasia	Broad phalanx, Craniosynostosis, Shallow orbits, Platyspondyly, Short neck, Short nose, Rhizomeli...	OMIM:166250
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Vertebral segmentation defect, Kyphosis, Abnormal antihelix morphology, Clinodactyly of the 5th f...	ORPHA:1005
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Upper limb metaphyseal widening, Humerus varus, Thin bony cortex, Hypoplasia of the u...	ORPHA:85188
Developmental Malformations-Deafness-Dystonia Syndrome	Sensorineural hearing impairment, Kyphosis, Macroglossia, Femoral retroversion, Scoliosis, Microm...	ORPHA:79107
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, Abnormal pelvic girdle bone morphology, Abnormal metaphysis mo...	ORPHA:2779
Craniodigital-Intellectual Disability Syndrome	Generalized hirsutism, Thick eyebrow, Micrognathia, Abnormal hair pattern, Spina bifida occulta, ...	ORPHA:1514
Cleidocranial Dysplasia	Macrocephaly, Down-sloping shoulders, Delayed eruption of teeth, Tapered finger, Carious teeth, G...	ORPHA:1452
Thanatophoric Dysplasia, Type I	Narrow chest, Wide-cupped costochondral junctions, Metaphyseal irregularity, Small abnormally for...	OMIM:187600
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Hypoplasia of the radius, Hemivertebrae, Short neck, Rudimentary fi...	ORPHA:958
Multiple Synostoses Syndrome 1	Pectus excavatum, Short sternum, Clinodactyly of the 4th toe, Bilateral conductive hearing impair...	OMIM:186500
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Narrow chest, Sensorineural hearing impairment, Short femur, Micrognathia, Metaphyseal widening, ...	ORPHA:440354
Cousin Syndrome	Facial hirsutism, Microtia, first degree, Rhizomelia, Absent proximal finger flexion creases, Cli...	OMIM:260660
Acromesomelic Dysplasia 1	Broad phalanx, Thoracolumbar interpediculate narrowness, Cone-shaped epiphyses of the phalanges o...	OMIM:602875
Metaphyseal Anadysplasia	Joint stiffness, Abnormal morphology of ulna, Abnormal ulnar metaphysis morphology, Aplasia/Hypop...	ORPHA:1040
Pseudoachondroplasia	Fragmented epiphyses, Irregular carpal bones, Fragmented, irregular epiphyses, Platyspondyly, Sma...	OMIM:177170
Paternal Uniparental Disomy Of Chromosome X	Infertility, Short neck, Shield chest, Low-set, posteriorly rotated ears, Cubitus valgus, Short m...	ORPHA:261524
Femoral-Facial Syndrome	Vertebral segmentation defect, Coxa vara, Sprengel anomaly, Rib fusion, Talipes equinovarus, Apla...	ORPHA:1988
Smith-Mccort Dysplasia 2	Metaphyseal irregularity, Broad phalanx, Flattened femoral head, Short metatarsal, Barrel-shaped ...	OMIM:615222
Anauxetic Dysplasia 3	Pectus excavatum, Femoral bowing, Platyspondyly, Genu valgum, Hip subluxation, Broad middle phala...	OMIM:618853
Intellectual Disability, Buenos-Aires Type	Dental malocclusion, Clinodactyly of the 5th finger, Microcephaly, Pectus carinatum, Macrotia, Ab...	ORPHA:3079
Cenani-Lenz Syndrome	Hypoplasia of the radius, Micromelia, Radioulnar synostosis, Hypoplasia of the ulna, Short nose, ...	ORPHA:3258
Pde4D Haploinsufficiency Syndrome	Broad phalanx, Cone-shaped epiphysis, Upper limb undergrowth, Caudal interpedicular narrowing, Br...	ORPHA:439822
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Latera...	OMIM:171480
Boomerang Dysplasia	Narrow chest, Abnormality of femur morphology, Abnormal bone ossification, Abnormal morphology of...	ORPHA:1263
Holt-Oram Syndrome	Aplasia of the ulna, Short clavicles, Thoracic scoliosis, Pectus excavatum, Absent thumb, Hypopla...	OMIM:142900
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Abnormal hip bone morphology, Abnormal form of the vertebral bodies,...	ORPHA:1837
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Irregular vertebral endplates, Metaphyseal irregularity, Dislocated radial head, Knee dislocation...	OMIM:618395
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Fibular metaphyseal irregularity, Craniosynostosis, Short fourth metatarsal, Osteopenia, Cone-sha...	ORPHA:457395
Brachydactyly-Preaxial Hallux Varus Syndrome	Thick eyebrow, Radial club hand, Micrognathia, Brachydactyly, Wide nasal bridge, Abnormal fingern...	ORPHA:1278
Osebold-Remondini Syndrome	Carpal synostosis, Short toe, Dysplastic distal radial epiphyses, Hypoplasia of the radius, Short...	OMIM:112910
3M Syndrome	Short neck, Congenital hip dislocation, Micromelia, Hypoplasia of the ulna, Hypoplastic pelvis, R...	ORPHA:2616
Trichorhinophalangeal Syndrome, Type I	Sparse hair, Osteopenia, Pectus carinatum, Coxa magna, Sparse lateral eyebrow, Leukonychia, Flat ...	OMIM:190350
Brachydactyly, Combined B And E Types	Short fifth metatarsal, Short fourth metatarsal, Broad distal phalanx of finger, Brachydactyly, S...	OMIM:112440
Van Den Ende-Gupta Syndrome	Pectus excavatum, Craniosynostosis, Overfolded helix, Femoral bowing, Narrow foot, Tapered finger...	OMIM:600920
Trichorhinophalangeal Syndrome Type 1 And 3	Short distal phalanx of finger, Protruding ear, Clinodactyly of the 5th finger, Leukonychia, Spar...	ORPHA:77258
Crane-Heise Syndrome	Short distal phalanx of finger, Joint stiffness, Talipes equinovarus, Abnormally ossified vertebr...	ORPHA:1512
Acrodysostosis 2 With Or Without Hormone Resistance	Spinal canal stenosis, Fair hair, Blue irides, Cone-shaped epiphysis, Brachydactyly, Short phalan...	OMIM:614613
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Coarse hair, Osteolytic def...	OMIM:309350
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Short nail, Femoral bowing, Short 1st metacarpal, 11 pairs of...	OMIM:114290
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Short 1st metacarpal, Cone-shaped epiphysis, Proximal femoral epiphysiolysis, Distal symphalangis...	OMIM:210720
Heart-Hand Syndrome Type 2	Joint stiffness, Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry of the thor...	ORPHA:1350
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Coxa vara, Metaphyseal irregularity, Delayed ossification of carpal bones, ...	OMIM:607078
Metaphyseal Chondrodysplasia, Kaitila Type	Narrow chest, Metaphyseal irregularity, Cone-shaped epiphyses of the phalanges of the hand, Short...	OMIM:250230
Campomelic Dysplasia	Poorly ossified cervical vertebrae, Femoral bowing, Short neck, 11 pairs of ribs, Proptosis, Bowi...	ORPHA:140
Chromosome 8Q22.1 Duplication Syndrome	Cervical C2/C3 vertebral fusion, Joint stiffness, Broad metacarpals, Short metatarsal, Genu recur...	OMIM:151200
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Thick eyebrow, Scoliosis, Pectus carinatum, Radioulnar synostosis...	ORPHA:3268
Odontochondrodysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Micromelia, Pectus carinatum, ...	OMIM:184260
Rhizomelic Chondrodysplasia Punctata, Type 3	Rhizomelia, Short humerus, Epiphyseal stippling, Short femur	OMIM:600121
Schneckenbecken Dysplasia	Narrow chest, Hypoplastic vertebral bodies, Macrocephaly, Malar flattening, Short ribs, Increased...	ORPHA:3144
Femur-Fibula-Ulna Complex	Abnormality of femur morphology, Abnormal morphology of ulna, Split hand, Short humerus, Micromel...	ORPHA:2019
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Irregular vertebral endplates, Dislocated radial head, Kyphoscoliosis, Flat capital femoral epiph...	OMIM:612350
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal antihelix morphology, Abnormal pinna morphology, Elbow ankylosis, Craniosynostosis, Femo...	ORPHA:95699
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Cervical C2/C3 vertebral fusion, Short distal phalanx of finger, Short distal phalanx of the thum...	ORPHA:370010
Marinesco-Sjogren Syndrome	Kyphosis, Flexion contracture, Hypergonadotropic hypogonadism, Rimmed vacuoles, Scoliosis, Pes pl...	OMIM:248800
Pelvis-Shoulder Dysplasia	Short clavicles, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Back pain, Hypoplastic ili...	OMIM:169550
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa	Short clavicles, Short ribs, Short humerus, Short neck, Scoliosis, Biconcave vertebral bodies, Sh...	OMIM:610319
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal	Proximal humeral metaphyseal irregularity, Ulnar deviation of the hand, Sparse hair, Long clavicl...	OMIM:602613
Léri-Weill Dyschondrosteosis	Abnormality of femur morphology, Hypoplasia of the radius, Cone-shaped epiphysis, Micromelia, Abn...	ORPHA:240
Cleidocranial Dysplasia 1	Cone-shaped epiphyses of the phalanges of the hand, Midface retrusion, Absent frontal sinuses, Sp...	OMIM:119600
Exostoses, Multiple, Type Ii	Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Genu valgum, Rib exostoses, Pro...	OMIM:133701
Exostoses, Multiple, Type I	Coxa vara, Scapular exostoses, Madelung-like forearm deformities, Genu valgum, Rib exostoses, Pro...	OMIM:133700
Wahab Syndrome	Adducted thumb, Syndactyly, Ankylosis, Camptodactyly, Short foot, Clinodactyly, Short palm, Short...	OMIM:615170
Thanatophoric Dysplasia Type 1	Narrow chest, Kyphosis, Joint stiffness, Wide anterior fontanel, Short femur, Femoral bowing, Hyp...	ORPHA:1860
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Joint stiffness, Metaphyseal irregularity, Tibial bowing, Metaphyseal cupping, Coxa vara, Narrow ...	OMIM:608940
Dysspondyloenchondromatosis	Vertebral segmentation defect, Kyphoscoliosis, Generalized joint laxity, Osteoarthritis, Platyspo...	ORPHA:85198
Weismann-Netter Syndrome	Kyphosis, Abnormality of femur morphology, Tibial bowing, Abnormal morphology of ulna, Abnormal h...	ORPHA:3344
Spondyloepiphyseal Dysplasia Congenita	Abnormally ossified vertebrae, Barrel-shaped chest, Platyspondyly, Short neck, Upper limb undergr...	ORPHA:94068
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Abnormal rib morphology, Micrognathia, Hypoplastic distal segments of scapulae, Pectus excavatum	OMIM:602196
Spondylometaphyseal Dysplasia, Corner Fracture Type	Coxa vara, Metaphyseal irregularity, Scoliosis, Genu varum, Short femoral neck, Pectus carinatum,...	OMIM:184255
Dyggve-Melchior-Clausen Syndrome, X-Linked	Coxa vara, Cone-shaped epiphyses of the phalanges of the hand, Lumbar hyperlordosis, Prominent st...	OMIM:304950
Atelosteogenesis Type Ii	Broad phalanx, Short neck, Micromelia, Rhizomelic arm shortening, Upper limb undergrowth, Dumbbel...	ORPHA:56304
Langer Mesomelic Dysplasia	Radial bowing, Lumbar hyperlordosis, Hypoplasia of the radius, Broad ulna, Short tibia, Micrognat...	OMIM:249700
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short tibia, Micromelia, Short 3rd metacarpal, Limb undergrowth, Short 2nd metacarpal, Short 4th ...	OMIM:118651
Ivic Syndrome	Absent thumb, Limited interphalangeal movement, Hypoplasia of the radius, Short 1st metacarpal, U...	OMIM:147750
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Flared metaphysis, Platyspondyly, Short middle phalanx of the 2nd finger, ...	OMIM:156510
Acrorenal-Mandibular Syndrome	Absent nipple, Hypoplasia of the radius, Hemivertebrae, Rudimentary fibula, Hypoplasia of the uln...	OMIM:200980
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Platyspondyly, Short long bone, Metaphyseal irregularity, Metaphyseal cupping of ...	ORPHA:174
Angioosteohypotrophic Syndrome	Hypoplasia of the radius, Abnormality of the hand, Short humerus, Upper limb undergrowth, Abnorma...	ORPHA:75508
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Platyspondyly, Short neck, Short nose, Thoracic hypoplasia, Flexion contracture, Shor...	OMIM:616897
Mucolipidosis Ii Alpha/Beta	Pectus excavatum, Sparse hair, Sparse eyebrow, Craniosynostosis, Osteopenia, Bullet-shaped phalan...	OMIM:252500
Pseudopseudohypoparathyroidism	Short distal phalanx of the thumb, Ectopic ossification, Brachydactyly, Short 5th finger, Short 4...	ORPHA:79445
Chst3-Related Skeletal Dysplasia	Kyphoscoliosis, Flexion contracture, Sparse eyebrow, Barrel-shaped chest, Scoliosis, Abnormal for...	ORPHA:263463
Craniosynostosis 1	Oxycephaly, Craniosynostosis, Dolichocephaly, Prominent occiput, Frontal bossing, Sagittal cranio...	OMIM:123100
Cri-Du-Chat Syndrome	Diastasis recti, Overfriendliness, Abnormal pinna morphology, Premature graying of hair, Microret...	OMIM:123450
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short...	OMIM:611263
Craniofrontonasal Dysplasia	Abnormal clavicle morphology, Pectus excavatum, Abnormality of hair texture, Depressed nasal ridg...	ORPHA:1520
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short distal phalanx of finger, Low-set ears, Cone-shaped epiphyses of the phalanges of the hand,...	OMIM:617102
Omodysplasia 2	Dislocated radial head, Short 1st metacarpal, Short humerus, Rhizomelic arm shortening, Limited e...	OMIM:164745
Cono-Spondylar Dysplasia	Kyphosis, Cone-shaped epiphyses of the phalanges of the hand, Epiphyseal dysplasia, Hypertelorism...	ORPHA:420794
Short Rib-Polydactyly Syndrome	Cone-shaped epiphysis, Micromelia, Bowing of the long bones, Short long bone, Thoracic hypoplasia...	ORPHA:1505
Acromesomelic Dysplasia, Hunter-Thompson Type	Joint stiffness, Brachydactyly, Bilateral single transverse palmar creases, Scoliosis, Abnormalit...	ORPHA:968
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hirsutism, Hypertelorism, Microtia, Micrognathia, Hypoplasia of the ulna, Clinodactyly, Synophrys...	ORPHA:357175
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Platyspondyly, Short neck, Flared femoral metaphysis, Proptosis, S...	ORPHA:1427
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Protruding ear, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Aplasia of the...	ORPHA:2256
Brachydactyly, Type C	Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ...	OMIM:113100
Brachydactyly Type E	Short distal phalanx of finger, Short metacarpal, Upper limb asymmetry, Type E brachydactyly, Apl...	ORPHA:93387
Robinow Syndrome, Autosomal Recessive 1	Pectus excavatum, Hypoplastic sacrum, Hypoplasia of the radius, Hemivertebrae, Short neck, Duplic...	OMIM:268310
Frontometaphyseal Dysplasia	Limitation of movement at ankles, Craniosynostosis, Limitation of knee mobility, Single transvers...	ORPHA:1826
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Sparse hair, Hypoplastic sacrum, Osteopenia, Cone-shaped epiphysis, Hypoplastic pelvis, Rhizomeli...	OMIM:614813
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Pectus excavatum, Craniosynostosis, Hypoplasia of the radius, Overfolded helix, Short neck, Hypop...	OMIM:609945
Tetraploidy	Hypoplasia of the ear cartilage, Micrognathia, Microcephaly, Radial club hand, Biparietal narrowing	ORPHA:3305
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Overlapping toe, Hypertelorism, Craniosynostosis, Microtia, Osteopenia, Femoral bowing, Platyspon...	OMIM:616723
Acromesomelic Dysplasia 2C	Distal femoral bowing, Radial bowing, Hypoplasia of the radius, Short tibia, Shortening of all pr...	OMIM:201250
Ulna Hypoplasia-Intellectual Disability Syndrome	Joint stiffness, Hypoplasia of the radius, Broad hallux phalanx, Micromelia, Ulnar deviation of f...	ORPHA:2249
Van Maldergem Syndrome 2	Short fourth metatarsal, Osteopenia, Sacral dimple, Talipes equinovarus, Tracheomalacia, Microtia...	OMIM:615546
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Pectus excavatum, Rhizo-meso-acromelic limb shortening, Platyspondyly, Short neck, Small epiphyse...	OMIM:611717
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short distal phalanx of finger, Narrow chest, Nail dysplasia, Sparse hair, Postaxial polydactyly,...	OMIM:614091
Intellectual Developmental Disorder, Autosomal Recessive 35	Hirsutism, Hypertelorism, Microtia, Micrognathia, Hypoplasia of the ulna, Clinodactyly, Synophrys...	OMIM:615162
Ulnar Hypoplasia With Mental Retardation	Talipes equinovarus, Limited elbow movement, Limitation of knee mobility, Absent fingernail, Abse...	OMIM:276821
Toluene Embryopathy	Protruding ear, Micrognathia, Microcephaly, Tapered finger, Hypoplasia of the zygomatic bone, Low...	ORPHA:1920
Heyn-Sproul-Jackson Syndrome	Broad metacarpals, Broad phalanx, Sparse hair, 11 pairs of ribs, Short phalanx of finger, Short m...	OMIM:618724
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture of thumb, Pectus excavatum, Prominent sternum, Miscarriage, Absent glenoid fo...	ORPHA:96334
Van Maldergem Syndrome 1	Short fourth metatarsal, Osteopenia, Sacral dimple, Talipes equinovarus, Tracheomalacia, Microtia...	OMIM:601390
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Abnormal pinna morphology, Clinodactyly of the 5th finger, Microretrognathia, Biparietal narrowin...	ORPHA:228396
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Congenital hip dislocation, Single transverse palmar crease, Hypoplastic pelvis, Umbili...	OMIM:308050
Brachydactyly, Type A1, B	Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Broad distal ...	OMIM:607004
Brachydactyly-Syndactyly, Zhao Type	Short fifth metatarsal, Short middle phalanx of the 2nd finger, Symphalangism affecting the phala...	ORPHA:93409
Congenital Disorder Of Glycosylation, Type Ig	Sensorineural hearing impairment, Abnormal pinna morphology, Butterfly vertebrae, Talipes equinov...	OMIM:607143
Kyphomelic Dysplasia	Femoral bowing, Platyspondyly, Micromelia, Dumbbell-shaped humerus, Thoracic hypoplasia, Talipes ...	OMIM:211350
Mental Retardation Syndrome, Mietens-Weber Type	Forearm undergrowth, Dislocated radial head, Pes planus, Elbow flexion contracture, Absent proxim...	OMIM:249600
Brachydactyly Type A2	Type A2 brachydactyly, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the middle phalanx o...	ORPHA:93396
Mesomelic Dysplasia, Nievergelt Type	Clinodactyly of the 5th finger, Abnormal morphology of ulna, Finger syndactyly, Camptodactyly of ...	ORPHA:2633
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Abnormal hair quantity, Abnormal morphology of ulna, Short neck, Abnormal metacarpal morphology, ...	ORPHA:2233
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome	Adducted thumb, Micrognathia, Frontal bossing, Synophrys, Wide nasal bridge	ORPHA:3207
Van Bogaert-Hozay Syndrome	Abnormal pinna morphology, Micrognathia, Osteolytic defects of the phalanges of the hand, Distal ...	OMIM:277150
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Parietal foramina, Brachydactyly, Short nose, Sparse lateral eye...	OMIM:601224
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wide anterior fontanel, Bilateral talipes equinovarus, Platyspondyly, Shortening of all metacarpa...	OMIM:601356
Desbuquois Dysplasia 2	Pectus excavatum, Cutaneous syndactyly, Platyspondyly, Short neck, Monkey wrench femoral neck, Pe...	OMIM:615777
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Clinodactyly of the 5th finger, ...	ORPHA:2141
Craniodiaphyseal Dysplasia	Depressed nasal bridge, Wide nasal bridge, Abnormal rib morphology, Frontal bossing, Diaphyseal t...	ORPHA:1513
Pseudopseudohypoparathyroidism	Short neck, Brachydactyly, Osteoporosis, Short metatarsal, Short metacarpal	OMIM:612463
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short toe, Coronal craniosynostosis, Micrognathia, Brachydactyly, Short nose, Genu valgum, Propto...	OMIM:614078
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short distal phalanx of finger, Short hallux, Hallux varus, Hitchhiker thumb, Short metatarsal, S...	OMIM:112450
Adams-Oliver Syndrome 3	Short distal phalanx of finger, 2-3 toe syndactyly, Hypoplastic fifth fingernail, Absent toe, Sho...	OMIM:614814
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Thick eyebrow, Micrognathia, Narrow palm, Tapered finge...	OMIM:216550
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Sensorineural hearing impairment, Beaking of vertebral bodies, Epiphyseal dysplasia, Lumbar hyper...	OMIM:215150
Czech Dysplasia	Irregular vertebral endplates, Coxa vara, Short toe, Flat capital femoral epiphysis, Short metaca...	OMIM:609162
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	Broad nasal tip, Thin eyebrow, Tapered finger, Thick nasal alae, High anterior hairline, Wide nas...	OMIM:618147
Autosomal Dominant Omodysplasia	Hypertelorism, Short 1st metacarpal, Micrognathia, Short humerus, Short nose, Rhizomelia, Short p...	ORPHA:93328
Short-Rib Thoracic Dysplasia 12	Abnormal pinna morphology, Short neck, Anencephaly, Short long bone, Short ribs, Bowing of the ar...	OMIM:269860
Osteogenesis Imperfecta, Type Viii	Osteopenia, Decreased calvarial ossification, Platyspondyly, Femoral bowing, Barrel-shaped chest,...	OMIM:610915
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Abnormal pinna morphology, Sparse eyebrow, Femoral bowing, Platyspondyly, Short neck, Micromelia,...	OMIM:210710
Epiphyseal Dysplasia, Multiple, 3	Delayed epiphyseal ossification, Epiphyseal dysplasia, Osteoarthritis, Irregular epiphyses, Abnor...	OMIM:600969
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Sparse eyebrow, Barrel-shaped chest, Short neck, Hypoplasia of the capital femoral epiphysis, Hyp...	OMIM:143095
Roifman-Chitayat Syndrome	Osteopenia, Cone-shaped epiphysis, Short neck, Arthritis, Umbilical hernia, Hypertelorism, Short ...	OMIM:613328
Jackson-Weiss Syndrome	2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t...	ORPHA:1540
Ruvalcaba Syndrome	Narrow chest, Kyphosis, Generalized hirsutism, Clinodactyly of the 5th finger, Hypopigmented skin...	ORPHA:3121
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation	Mixed hearing impairment, Brachydactyly, Scoliosis, Aplasia/Hypoplasia of toe, Short middle phala...	OMIM:613627
Atelosteogenesis Type I	Narrow chest, Talipes equinovarus, Hypertelorism, Abnormal ossification involving the femoral hea...	ORPHA:1190
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Ectrodactyly, Conductive hearing impairment, Upper limb phocomelia, Microtia, Radial club hand, S...	ORPHA:2878
Brachyolmia Type 1, Hobaek Type	Sclerotic foci of metaphyses of the elbow, Kyphosis, Squared-off platyspondyly, Back pain, Osteop...	OMIM:271530
Fibular Hemimelia	Craniosynostosis, Talipes equinovalgus, Structural foot deformity, Arthralgia of the hip, Abnorma...	ORPHA:93323
Pelvis-Shoulder Dysplasia	Abnormal pinna morphology, Facial hirsutism, Absent proximal finger flexion creases, Talipes equi...	ORPHA:2839
Acrodysostosis 1 With Or Without Hormone Resistance	Cone-shaped epiphyses of the phalanges of the hand, Blue irides, Calvarial hyperostosis, Hypogona...	OMIM:101800
Spondylometaphyseal Dysplasia, Type A4	Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch...	OMIM:609052
Duane-Radial Ray Syndrome	Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Sandal gap, Pectoralis hypoplasia...	OMIM:607323
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Aplasia/Hypoplasia of the ulna, Split hand, Short humerus, Micromelia, Postaxial hand polydactyly...	ORPHA:2491
Temtamy Preaxial Brachydactyly Syndrome	Carpal synostosis, Brachydactyly, Syndactyly, Radioulnar synostosis, Clinodactyly, Synophrys, Tar...	OMIM:605282
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachycephaly, Brachydactyly, Midface retrusion	ORPHA:35099
Otopalatodigital Syndrome, Type I	Pectus excavatum, Short 3rd metacarpal, Broad hallux, Short nose, Sandal gap, Broad distal phalan...	OMIM:311300
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the radius, Micrognathia, Short 5th finger, Neonatal death, Hypoplasia of the ulna,...	OMIM:227270
Autosomal Recessive Axonal Neuropathy With Neuromyotonia	Intrinsic hand muscle atrophy, Thoracic scoliosis, Flexion contracture, Camptodactyly of finger, ...	ORPHA:324442
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Coxa vara, Epiphyseal dysplasia, Flat distal femoral epiphysis, Abnormality of the hand, Platyspo...	OMIM:609324
Distal Monosomy 10Q	Facial diplegia, Pectus excavatum, Prominent fingertip pads, Craniosynostosis, Tapered finger, Si...	ORPHA:96148
Radioulnar Synostosis, Unilateral, With Developmental Retardation And Hypotonia	Dislocated radial head, Radioulnar synostosis	OMIM:266255
Zechi-Ceide Syndrome	Short distal phalanx of finger, Conductive hearing impairment, Thick hair, Abnormal helix morphol...	ORPHA:217017
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Brachydactyly, Short phalanx of finger, Short metacarpal	OMIM:112410
Greenberg Dysplasia	Anterior rib punctate calcifications, Horizontal sacrum, Barrel-shaped chest, Platyspondyly, Micr...	OMIM:215140
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Deeply set eye, Short neck, Brachydactyly, Short metatarsal, Short metacarpal, Wide nasal bridge	OMIM:617157
Acrocraniofacial Dysostosis	Sensorineural hearing impairment, Conductive hearing impairment, Pectus excavatum, Hypotelorism, ...	OMIM:201050
Acromesomelic Dysplasia, Maroteaux Type	Sprengel anomaly, Kyphosis, Beaking of vertebral bodies, Dolichocephaly, Brachydactyly, Scoliosis...	ORPHA:40
Satoyoshi Syndrome	Amenorrhea, Alopecia universalis, Skeletal muscle hypertrophy, Alopecia, Brachydactyly, Osteolyti...	OMIM:600705
Acrofacial Dysostosis, Palagonia Type	Pili torti, Sparse eyebrow, Scoliosis, Spina bifida occulta at S1, Short 4th metacarpal, Abnormal...	OMIM:601829
Codas Syndrome	Sensorineural hearing impairment, Short metacarpal, Overfolded helix, Congenital hip dislocation,...	ORPHA:1458
Langer Mesomelic Dysplasia	Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me...	ORPHA:2632
Macrocephaly, Benign Familial	Dolichocephaly, Frontal bossing, Macrocephaly, Biparietal narrowing	OMIM:153470
Cornelia De Lange Syndrome 2	Hirsutism, Low anterior hairline, Thick eyebrow, Small hand, Micrognathia, Highly arched eyebrow,...	OMIM:300590
Radioulnar Synostosis, Nonsyndromic, Susceptibility To	Limited pronation/supination of forearm, Radioulnar synostosis	OMIM:179300
Acromegaloid Facial Appearance Syndrome	Joint hypermobility, Micrognathia, Tapered finger, Large hands, Synophrys, Short 5th metacarpal, ...	OMIM:102150
Deafness-Craniofacial Syndrome	Frontal bossing, Underdeveloped nasal alae, Wide nasal bridge, Alopecia	OMIM:125230
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Abnormal antihelix morphology, Hypoplasia of the antihelix, Hearing impairment, Short metacarpal,...	ORPHA:2489
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the radius, Radial club hand, Short tibia, Bilateral single tran...	ORPHA:1972
Anonychia-Onychodystrophy With Brachydactyly Type B And Ectrodactyly	Nail dysplasia, Anonychia, Type B brachydactyly, Aplasia/Hypoplasia of the distal phalanges of th...	OMIM:106990
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Abnormality of finger, Hypoplasia of the radius, Scoliosis, Radiouln...	ORPHA:2319
Steel Syndrome	Sensorineural hearing impairment, Dislocated radial head, Scoliosis, Hypertelorism, Wide nasal br...	OMIM:615155
Weaver Syndrome	Sparse hair, Prominent fingertip pads, Short fourth metatarsal, Single transverse palmar crease, ...	OMIM:277590
Bartsocas-Papas Syndrome 1	Absent thumb, Alopecia, Short neck, Alopecia totalis, Short nose, Talipes equinovarus, Flexion co...	OMIM:263650
Martsolf Syndrome 1	Pectus excavatum, Finger joint hypermobility, Pectus carinatum, Broad fingertip, Abnormal toenail...	OMIM:212720
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Clinodactyly of the 5th finger, Hypertelorism, Short mandibular rami, Small hand, M...	OMIM:170390
Catel-Manzke Syndrome	Joint stiffness, Clinodactyly of the 5th finger, Pectus excavatum, Radial deviation of the 2nd fi...	ORPHA:1388
Lamb-Shaffer Syndrome	Overlapping toe, Long hallux, Bulbous nose, Depressed nasal bridge, Pectus carinatum, Long finger...	OMIM:616803
Dystonia, Juvenile-Onset	Sensorineural hearing impairment, Hypoplastic scapulae, Kyphoscoliosis	OMIM:607371
Fetal Alcohol Syndrome	Vertebral segmentation defect, Micrognathia, Microcephaly, Low-set, posteriorly rotated ears, Bip...	ORPHA:1915
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Hand polydactyly, Abnormality of the vertebral column, Short humerus, Abnormal vertebral morpholo...	OMIM:314390
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Aplasia/Hypoplasia of the ulna, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Brachydact...	ORPHA:52056
Zimmermann-Laband Syndrome 3	Short distal phalanx of finger, Long hallux, Hypertrichosis, Thick eyebrow, Low anterior hairline...	OMIM:618658
X-Linked Intellectual Disability, Cabezas Type	Kyphosis, Clinodactyly of the 5th finger, Macrocephaly, Small hand, Camptodactyly of finger, Down...	ORPHA:85293
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov...	ORPHA:50809
Roifman Syndrome	Irregular vertebral endplates, Hip contracture, Short toe, Clinodactyly of the 5th finger, Biconv...	OMIM:616651
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities	Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Meso...	OMIM:228940
Desbuquois Syndrome	Coxa vara, Abnormal femoral neck/head morphology, Clinodactyly of the 5th finger, Genu recurvatum...	ORPHA:1425
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet	Hypoplasia of the ulna, Short finger, Syndactyly, Split foot	OMIM:314360
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Abnormal morphology of ulna, Micromelia, Synostosis of carpal bones, Abnormality of tibia morphol...	ORPHA:2634
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Joint stiffness, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Brachydactyly, Syno...	ORPHA:1275
Zechi-Ceide Syndrome	Short distal phalanx of finger, Long foot, Sandal gap, Short metatarsal, Wide nasal bridge, Small...	OMIM:612916
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Spondyloepimetaphyseal Dysplasia, X-Linked	Broad phalanx, Cone-shaped epiphyses of the phalanges of the hand, Anterior wedging of T11, Platy...	OMIM:300106
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metatarsal, Brachydactyly, Short metacarpal	OMIM:113400
Opsismodysplasia	Shallow orbits, Short neck, Severe platyspondyly, Short nose, Rhizomelia, Posterior rib cupping, ...	OMIM:258480
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Pectus excavatum, Spindle-shaped finger, Cutaneous syndactyly, G...	ORPHA:166024
Mietens Syndrome	Joint stiffness, Coxa vara, Clinodactyly of the 5th finger, Coxa valga, Elbow ankylosis, Hypoplas...	ORPHA:2557
Acro-Renal-Ocular Syndrome	Radial club hand, Hypoplasia of the ulna, Sandal gap, Vertebral segmentation defect, Short distal...	ORPHA:959
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Short 4th metacarpal, Osteolysis of patellae, Osteolysis of scaphoids, Synov...	OMIM:609655
Acrootoocular Syndrome	Decreased palmar creases, Pectus excavatum, Cutaneous syndactyly, Sandal gap, Micrognathia, Atres...	ORPHA:2980
Alagille Syndrome	Vertebral segmentation defect, Short distal phalanx of finger, Protruding ear, Clinodactyly of th...	ORPHA:52
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Clinodactyly of the 5th finger, Delayed ossification of carpal b...	OMIM:182255
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Genu valgum, Small epiphyses, Thoracic hypoplasia, Short long bone, Advanced ossification of carp...	OMIM:618363
Tetrasomy X	Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synostosis, Hypertelorism, Hip dysplasi...	ORPHA:9
Codas Syndrome	Sensorineural hearing impairment, Conductive hearing impairment, Metaphyseal dysplasia, Delayed o...	OMIM:600373
Camptodactyly Syndrome, Guadalajara, Type I	Pectus excavatum, Horizontal sacrum, Pectus carinatum, Short nose, Twelfth rib hypoplasia, Absent...	OMIM:211910
Thrombocytopenia-Absent Radius Syndrome	Aplasia/Hypoplasia of the ulna, Patellar dislocation, Clinodactyly of the 5th finger, Micrognathi...	ORPHA:3320
Pitt-Hopkins Syndrome	Prominent fingertip pads, Short fourth metatarsal, Hyperconvex nail, Sparse medial eyebrow, Short...	OMIM:610954
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the radius, Micrognathia, Syndactyly, Hypoplasia of the ulna, Hypertelorism	OMIM:212780
Ulnar Hypoplasia	Ulnar deviation of the hand, Radial bowing, Hypoplasia of the radius, Hypoplasia of the ulna, Rad...	OMIM:191440
Metaphyseal Acroscyphodysplasia	Cone-shaped metacarpal epiphyses, Abnormality of femur morphology, Short toe, Depressed nasal rid...	ORPHA:1240
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Clinodactyly of the 5th finger, Reduced bone mineral density, Scoliosis, Abnormal form of the ver...	ORPHA:2370
Ring Chromosome 4 Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the radius, Abnormality of the upp...	ORPHA:1447
Brachydactyly Type B	Short distal phalanx of finger, Broad hallux phalanx, Synostosis of carpal bones, Type B brachyda...	ORPHA:93383
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Coxa vara, Metaphyseal irregularity, Metaphyseal dysplasia, Flexion contracture, Abnormally ossif...	OMIM:613330
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Broad phalanx, Pectus excavatum, Platyspondyly, Micromelia, C1-C2 subluxation, Short nose, Propto...	OMIM:271665
Brachydactyly, Type E2	Short metatarsal, Brachydactyly, Short metacarpal	OMIM:613382
Acromesomelic Dysplasia 2B	Short metatarsal, Small nail, Talipes equinovalgus, Aplastic/hypoplastic toenail, Brachydactyly, ...	OMIM:228900
Chromosome 2Q37 Deletion Syndrome	Sensorineural hearing impairment, Short toe, Deeply set eye, Short phalanx of finger, Short metat...	OMIM:600430
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Cone-shaped epiphyses of the phalanges of the hand, Craniosynostosis, Osteopenia, Short neck, Hyp...	OMIM:266920
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Short clavicles, Absent thumb, Retrognathia, Hypoplastic pelvis, Hypoplastic scapulae, Bowed humerus	OMIM:618022
Larsen Syndrome	Pectus excavatum, Short nail, Talipes equinovalgus, Shallow orbits, Pectus carinatum, Elbow dislo...	OMIM:150250
Paget Disease Of Bone 5, Juvenile-Onset	Sensorineural hearing impairment, Recurrent fractures, Kyphosis, Increased bone mineral density, ...	OMIM:239000
Eiken Syndrome	Abnormal fingertip morphology, Thin bony cortex, Epiphyseal dysplasia, Metaphyseal irregularity, ...	ORPHA:79106
Rhizomelic Syndrome, Urbach Type	Short distal phalanx of finger, Kyphosis, Wide anterior fontanel, Abnormal hair quantity, Microgn...	ORPHA:3098
Brachydactyly-Arterial Hypertension Syndrome	Brachydactyly, Short phalanx of finger, Short metacarpal	ORPHA:1276
Pallister W Syndrome	Radial bowing, Joint contracture of the hand, Frontal upsweep of hair, Pes cavus, Camptodactyly, ...	OMIM:311450
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Platyspondyly, Arthralgia of the hip, Hip subluxation, Dysplasia of the femoral head, Abnormality...	ORPHA:99642
Pseudohypoparathyroidism, Type Ia	Short toe, Short neck, Brachydactyly, Osteoporosis, Short finger, Hypogonadism, Short metatarsal,...	OMIM:103580
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Advanced ossification of carpal bones, Platyspondyly, Monkey wrench femoral...	OMIM:617719
Brachydactyly, Type E1	Short clavicles, Brachydactyly, Type E brachydactyly, Short metatarsal, Short metacarpal, Straigh...	OMIM:113300
Acromesomelic Dysplasia 3	Carpal synostosis, Short toe, Talipes equinovarus, Bilateral talipes equinovarus, Hypergonadotrop...	OMIM:609441
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Absent thumb, Short femur, Short tibia, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,...	OMIM:612447
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Aplasia/Hypoplasia of the ulna, Hypoplasia of the radius, Femoral bowing, Congenital hip dislocat...	OMIM:228930
Femoral-Facial Syndrome	Abnormal pinna morphology, Short fourth metatarsal, Hemivertebrae, Radioulnar synostosis, Short n...	OMIM:134780
Melnick-Needles Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the pubic bone, Osteolytic def...	ORPHA:2484
Acrofacial Dysostosis, Palagonia Type	Pili torti, Low anterior hairline, Sparse hair, Sparse eyelashes, Small hand, Micrognathia, Thin ...	ORPHA:1787
Occipital Horn Syndrome	Narrow chest, Kyphosis, Short clavicles, Pectus excavatum, Coxa valga, Coarse hair, Platyspondyly...	OMIM:304150
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Genu recurvatum, Reduced bone mineral density, Scoliosis, Talipes, Short metac...	ORPHA:2611
Spondylometaphyseal Dysplasia, Pagnamenta Type	Femoral bowing, Platyspondyly, Thin bony cortex, Thoracic kyphosis, Rhizomelia, Broad thumb, Pes ...	OMIM:619638
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Delayed proximal femoral epiphyseal ossification, Short nail, Platyspondyly, Short neck, 11 pairs...	OMIM:271640
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split foot	ORPHA:1122
Intellectual Disability, Wolff Type	Short distal phalanx of finger, Clinodactyly of the 5th finger, Microretrognathia, Hypoplastic su...	ORPHA:3080
Paget Disease Of Bone 2, Early-Onset	Sandwich appearance of vertebral bodies, Sclerosis of skull base, Short femur, Fractures of the l...	OMIM:602080
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Aplasia/Hypoplasia of the fibula, Abnormal morphology of ulna	ORPHA:1118
Spondyloepimetaphyseal Dysplasia With Hypotrichosis	Increased anterior vertebral height, Decreased hip abduction, Coxa vara, Delayed epiphyseal ossif...	OMIM:183849
Acrorenal Syndrome	Abnormal morphology of ulna, Micrognathia, Abnormality of tibia morphology, Aplasia/Hypoplasia of...	ORPHA:971
Syndactyly Type 2	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect...	ORPHA:93403
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies	Kyphoscoliosis, Pectus excavatum, Hypotelorism, Micrognathia, Short phalanx of finger, Atresia of...	OMIM:264475
Spondyloepiphyseal Dysplasia Tarda	Abnormally ossified vertebrae, Barrel-shaped chest, Short neck, Platyspondyly, Biconcave vertebra...	ORPHA:93284
Shox-Related Short Stature	Forearm undergrowth, Tibial bowing, Skeletal muscle hypertrophy, Micrognathia, Short neck, Scolio...	ORPHA:314795
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies	Broad nasal tip, Wide nasal bridge, Flattened knee epiphyses	OMIM:600093
Monosomy 5P	Recurrent fractures, Microretrognathia, Finger syndactyly, Small hand, Short neck, Scoliosis, Low...	ORPHA:281
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Lateral clavicle hook, Po...	OMIM:613091
Postaxial Acrofacial Dysostosis	Conductive hearing impairment, Supernumerary nipple, Microtia, Hypoplasia of the radius, Microgna...	ORPHA:246
Jackson-Weiss Syndrome	2-3 toe syndactyly, Craniosynostosis, Broad hallux, Broad metatarsal, Hallux varus, Short metatar...	OMIM:123150
16Q24.3 Microdeletion Syndrome	Kyphosis, Protruding ear, Biparietal narrowing, Micrognathia, Scoliosis, Frontal bossing, Proxima...	ORPHA:261250
3Q29 Microduplication Syndrome	Macrocephaly, Craniosynostosis, Camptodactyly of toe, Microcephaly, Short neck, Hearing impairmen...	ORPHA:251038
Thrombocytopenia-Absent Radius Syndrome	Absent thumb, Hypoplasia of the radius, Femoral bowing, Hypoplasia of the ulna, Patellar dislocat...	OMIM:274000
Postaxial Acrofacial Dysostosis	Conductive hearing impairment, Pectus excavatum, Supernumerary nipple, Supernumerary vertebrae, H...	OMIM:263750
15Q14 Microdeletion Syndrome	Kyphosis, Microcephaly, Scoliosis, Low-set ears, Biparietal narrowing	ORPHA:261190
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Sensorineural hearing impairment, Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysp...	ORPHA:71289
Multiple Epiphyseal Dysplasia, Beighton Type	Biconcave vertebral bodies, Arthralgia of the hip, Genu valgum, Pedal edema, Intervertebral space...	ORPHA:166011
Spondyloepimetaphyseal Dysplasia, Missouri Type	Coxa vara, Tibial bowing, Metaphyseal cupping, Radial bowing, Flared iliac wing, Femoral bowing, ...	OMIM:602111
8P23.1 Microdeletion Syndrome	Enlarged thorax, Micrognathia, Broad hallux phalanx, Short neck, Microcephaly, External ear malfo...	ORPHA:251071
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of ulna, Abnormal hip bone morphology, Aplasia/Hypoplasia of the fibula, Syno...	ORPHA:2639
Atelosteogenesis, Type Ii	Lacunar halos around chondrocytes, Horizontal sacrum, Platyspondyly, Short neck, Micromelia, Sand...	OMIM:256050
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	2-3 toe syndactyly, Horizontal eyebrow, Clinodactyly, Anteverted nares, Wide nasal bridge	OMIM:619311
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Platyspondyly, Broad hallux, Genu valgum, Rhizomelia, Ovoid vertebral bodies, Sho...	OMIM:618019
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Plagiocephaly, Micrognathia, Unilambdoid synostosis, Short nose, Long eyelashes, Clinodactyly, An...	OMIM:618577
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Microcephaly, Protruding ear, Scoliosis, Biparietal narrowing	ORPHA:2518
Ulnar-Mammary Syndrome	Aplasia of the 5th metacarpal, Hypoplasia of the radius, Hypoplasia of the ulna, Aplasia of the 3...	OMIM:181450
Grant Syndrome	Sprengel anomaly, Narrow chest, Abnormality of the glenoid fossa, Micrognathia, Depressed nasal b...	ORPHA:2097
Anauxetic Dysplasia 2	Nail dysplasia, Coxa vara, Metaphyseal dysplasia, Hypoplastic iliac body, Sparse hair, Flexion co...	OMIM:617396
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Nail dysplasia, Abnormality of hair texture, Short distal phalanx...	OMIM:601957
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Platyspondyly, Rhizomelia, Abnormal epiphysis morphology, Ovoid vertebral bodies, Bowing of the l...	ORPHA:85167
Spondylocarpotarsal Synostosis Syndrome	Short neck, Pectus carinatum, Short nose, Block vertebrae, Vertebral segmentation defect, Carpal ...	OMIM:272460
Brachydactyly-Distal Symphalangism Syndrome	Distal symphalangism of hands, Short 1st metacarpal, Camptodactyly of finger, Chess-pawn distal p...	OMIM:113450
Spondylometaphyseal Dysplasia, X-Linked	Kyphosis, Sclerosis of skull base, Hip contracture, Hyperextensibility of the finger joints, Plat...	OMIM:313420
Pseudohypoparathyroidism, Type Ic	Short neck, Brachydactyly, Osteoporosis, Hypogonadism, Short metatarsal, Short metacarpal	OMIM:612462
Multiple Metaphyseal Dysplasia	Short distal phalanx of finger, Depressed nasal ridge, Abnormal hip bone morphology, Broad distal...	ORPHA:93430
Diastrophic Dysplasia	Abnormal clavicle morphology, Overfolded helix, Micromelia, Symphalangism affecting the phalanges...	ORPHA:628
Frontometaphyseal Dysplasia 2	Abnormal pinna morphology, Pectus excavatum, Congenital hip dislocation, Finger clinodactyly, Tal...	OMIM:617137
Brachydactyly, Mononen Type	Absent distal phalanx of the 2nd toe, Short 1st metacarpal, Aplasia of the distal phalanx of the ...	OMIM:301940
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Platyspondyly, Pectus carinatum, Ulnar deviation of finger, Proptosis, Abnormal epiphysis morphol...	ORPHA:93359
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Pectus excavatum, Osteopenia, Ankle clonus, Scoliosis, Osteoporosis, Hypoplasia of the ulna, Shor...	OMIM:615398
Coffin-Lowry Syndrome	Pectus excavatum, Broad finger, Tapered finger, Pectus carinatum, Death in early adulthood, Skele...	ORPHA:192
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism	Short toe, Sparse hair, Sparse eyelashes, Absent pubic hair, Short phalanx of finger, Hypoplastic...	OMIM:211370
Diamond-Blackfan Anemia 11	Absent thumb, Hypoplasia of the radius, Radioulnar synostosis, Hypoplasia of the ulna, Abnormal d...	OMIM:614900
Split-Hand/Foot Malformation 2	Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly	OMIM:313350
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Scoliosis, Amelia, Anterior encephalocele, Low-set ears, Foot oligodactyly	OMIM:601357
Baller-Gerold Syndrome	Hypoplasia of the radius, Hypoplasia of the ulna, Sagittal craniosynostosis, Carpal synostosis, R...	OMIM:218600
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Clinodactyly of the 5th finger, Miscarriage, Microtia, Short 1st ...	ORPHA:2438
Hypoplastic Femurs And Pelvis	Hypoplastic pelvis, Short femur	OMIM:619545
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Kyphosis, Hirsutism, Talipes equinovarus, Small hand, Scoliosis, Short foot, Hip dislocation, Hyp...	OMIM:300434
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Restricted large joint movement, Platyspondyly, Abnormality of the ankles, Abnormal ilium morphol...	ORPHA:163665
Hydrocephalus-Obesity-Hypogonadism Syndrome	Absent facial hair, Sparse facial hair, Hypergonadotropic hypogonadism, Short neck, Cubitus valgu...	ORPHA:2183
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the ulna, Abnormality of femur morphology, Ectrodactyly, Aplasia/Hypoplasia...	ORPHA:3329
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Sensorineural hearing impairment, Deeply set eye, Hypertelorism, Short fourth metatarsal, Short n...	ORPHA:464288
Craniofacial Dysostosis With Diaphyseal Hyperplasia	Pectus excavatum, Massively thickened long bone cortices, Thin calvarium, Brachydactyly, Micromel...	OMIM:122900
Split-Hand/Foot Malformation 4	Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang...	OMIM:605289
Non-Distal Trisomy 10Q	Pectus excavatum, Convex nasal ridge, Micrognathia, Depressed nasal bridge, Frontal bossing, Shor...	ORPHA:1695
W Syndrome	Radial bowing, Pes cavus, Camptodactyly, Hypoplasia of the ulna, Pes planus, Cubitus valgus, Clin...	ORPHA:2804
Acrofacial Dysostosis, Rodríguez Type	Aplasia/Hypoplasia of the ulna, Sprengel anomaly, Talipes equinovarus, Microretrognathia, Hand ol...	ORPHA:1788
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Microtia, Brachydactyly, Low-set, posteriorly rotated ears, Atresia of the external auditory cana...	ORPHA:1770
Blomstrand Lethal Chondrodysplasia	Distal shortening of limbs, Narrow chest, Metaphyseal cupping, Increased bone mineral density, Sh...	ORPHA:50945
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Narrow chest, Beaking of vertebral bodies, Hypertelorism, Increased intervertebral space, Short r...	OMIM:618961
Acheiropody	Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h...	OMIM:200500
Developmental And Epileptic Encephalopathy 95	Short distal phalanx of finger, Multiple joint contractures, Clinodactyly of the 5th finger, Macr...	OMIM:618143
Humero-Radio-Ulnar Synostosis	Elbow ankylosis, Radioulnar synostosis, Abnormal thumb morphology, Abnormal metacarpal morphology...	ORPHA:3266
Non-Distal Monosomy 10Q	Overlapping fingers, Clinodactyly of the 5th finger, Brachydactyly, Biparietal narrowing	ORPHA:1581
Adenylosuccinate Lyase Deficiency	Anteverted nares, Short nose, Brachycephaly, Flat occiput	ORPHA:46
Ulnar/Fibular Ray Defect And Brachydactyly	Bilateral talipes equinovarus, Brachydactyly, Postaxial oligodactyly, Lower limb asymmetry, Unila...	OMIM:608571
Lethal Kniest-Like Dysplasia	Narrow chest, Low-set ears, Wide anterior fontanel, Hypoplastic vertebral bodies, Talipes equinov...	ORPHA:2347
Metatropic Dysplasia	Halberd-shaped pelvis, Cone-shaped epiphysis, Platyspondyly, Hyperplasia of the femoral trochante...	OMIM:156530
Gómez-López-Hernández Syndrome	Toenail dysplasia, Alopecia of scalp, Anteverted nares, Brachycephaly, Midface retrusion, Turrice...	ORPHA:1532
Joubert Syndrome	Scoliosis, Abnormal form of the vertebral bodies, Hand polydactyly, Low-set ears, Foot polydactyl...	ORPHA:475
Spondylometaphyseal Dysplasia, Sedaghatian Type	Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Short neck, 11 pairs of ribs, ...	OMIM:250220
2Q31.1 Microdeletion Syndrome	Short neck, Tapered finger, Abnormality of fibula morphology, Proptosis, Sandal gap, Vertebral se...	ORPHA:251014
Intellectual Developmental Disorder, Autosomal Dominant 23	Bulbous nose, Low anterior hairline, Postaxial polydactyly, Micrognathia, Depressed nasal bridge,...	OMIM:615761
Cranioectodermal Dysplasia 1	Pectus excavatum, Sparse hair, Short nail, Single transverse palmar crease, Sagittal craniosynost...	OMIM:218330
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones	Sensorineural hearing impairment, Deeply set eye, Slender long bones with narrow diaphyses, Abnor...	OMIM:608154
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Conductive hearing impairment, Short toe, Clinodactyly of the 5th finger, Spondylolisthesis, Pect...	OMIM:617877
1Q44 Microdeletion Syndrome	Micrognathia, Microcephaly, Scoliosis, Frontal bossing, Biparietal narrowing	ORPHA:238769
Epiphyseal Dysplasia, Multiple, 6	Irregular vertebral endplates, Intervertebral disk calcification, Flat capital femoral epiphysis,...	OMIM:614135
Aase-Smith Syndrome	Joint stiffness, Multiple joint contractures, Abnormal pinna morphology, Talipes equinovarus, Sle...	ORPHA:916
Weaver Syndrome	Sandal gap, Abnormal metaphysis morphology, Joint stiffness, Hypoplastic toenails, Talipes equino...	ORPHA:3447
Brachymetatarsus Iv	Short 4th toe, Short fourth metatarsal	OMIM:113475
Ghosal Hematodiaphyseal Dysplasia	Abnormality of femur morphology, Abnormal form of the vertebral bodies, Abnormality of tibia morp...	ORPHA:1802
Summitt Syndrome	Clinodactyly of the 5th finger, Hypertelorism, Craniosynostosis, Camptodactyly of finger, Brachyd...	ORPHA:3210
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Craniosynostosis, Long nose, Severe platyspondyly, Short nose, Proptosis, Sacral dimple, Deeply s...	ORPHA:508533
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Clinodactyly of the 5th finger, Malar flattening, Short distal phalanx of toe, Microcephaly, Brac...	ORPHA:1292
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, Distal ulnar epiphyseal stippl...	OMIM:609616
Prader-Willi Syndrome Due To Imprinting Mutation	Small hand, Hypopigmentation of the skin, Hypogonadotropic hypogonadism, Hypopigmentation of hair...	ORPHA:177910
Achondroplasia	Limited hip extension, Bowing of the legs, Conductive hearing impairment, Lumbar hyperlordosis, L...	OMIM:100800
Arms, Malformation Of	Hypoplasia of the radius, Hypoplasia of the ulna, Radioulnar synostosis	OMIM:107900
Acheiropodia	Aplasia of the ulna, Absent hand, Upper limb phocomelia, Short humerus, Abnormal epiphysis morpho...	ORPHA:931
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Vertebral segmentation defect, Abnormal hip bone morphology, Overfolded helix, Camptodactyly of f...	ORPHA:2631
C Syndrome	Dislocated radial head, Micrognathia, Micromelia, Scoliosis, Fused sternal ossification centers, ...	OMIM:211750
Steinfeld Syndrome	Abnormal pinna morphology, Hypoplasia of the radius, Aplasia of the nose, Abnormality of the vert...	OMIM:184705
Multiple Epiphyseal Dysplasia, Lowry Type	Delayed epiphyseal ossification, Epiphyseal dysplasia, Dislocated radial head, Fragmented epiphys...	ORPHA:166016
Yunis-Varon Syndrome	Absent nipple, Absent thumb, Sparse eyebrow, Decreased calvarial ossification, Congenital hip dis...	OMIM:216340
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies	Kyphosis, Overlapping toe, Absent earlobe, Protruding ear, Prominent fingertip pads, Short fourth...	OMIM:619557
Moebius Syndrome	Facial diplegia, Abnormal pinna morphology, Short neck, Hand clenching, Talipes equinovarus, Micr...	OMIM:157900
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Narrow chest, Abnormal clavicle morphology, Hypertelorism, Micrognathia, Platyspondyly, Short nec...	ORPHA:93267
Mosaic Trisomy 9	Supernumerary ribs, Micrognathia, Camptodactyly of finger, Hemivertebrae, Micromelia, Finger clin...	ORPHA:99776
Ectodermal Dysplasia 13, Hair/Tooth Type	Low anterior hairline, Sparse eyelashes, Depressed nasal bridge, Thin eyebrow, Wide nasal bridge	OMIM:617392
Multiple Osteochondromas	Abnormality of femur morphology, Scapular exostoses, Limitation of knee mobility, Abnormal bone s...	ORPHA:321
Muenke Syndrome	Cone-shaped epiphyses of the phalanges of the hand, Plagiocephaly, Low anterior hairline, Thimble...	OMIM:602849
Cornelia De Lange Syndrome 5	Hirsutism, Clinodactyly of the 5th finger, Low anterior hairline, Small hand, Micrognathia, Broad...	OMIM:300882
Joubert Syndrome With Ocular Defect	Scoliosis, Low-set, posteriorly rotated ears, Abnormal vertebral morphology, Hand polydactyly, Fo...	ORPHA:220493
Otopalatodigital Syndrome Type 1	Short distal phalanx of finger, Hypertelorism, Increased bone mineral density, Abnormal vertebral...	ORPHA:90650
Pelger-Huet Anomaly	Kyphosis, Lower limb hypertonia, Pes cavus, Polydactyly, Upper limb undergrowth, Short 3rd metaca...	OMIM:169400
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Platyspondyly, Short neck, Anisospondyly, Short nose, Hemiatrophy of upper limb, ...	ORPHA:163649
Trisomy 4P	Abnormal antihelix morphology, Low anterior hairline, Thick eyebrow, Radial club hand, Camptodact...	ORPHA:1738
Griscelli Syndrome, Type 1	Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Silver-gray hair, White...	OMIM:214450
Deafness, X-Linked 7	Thick eyebrow, Wide nasal bridge	OMIM:301018
Poland Syndrome	Hemivertebrae, Cone-shaped epiphysis, Short neck, Abnormality of the humerus, Pectus carinatum, E...	ORPHA:2911
Endosteal Hyperostosis, Worth Type	Sensorineural hearing impairment, Craniofacial hyperostosis, Clavicular sclerosis, Abnormal form ...	ORPHA:2790
Peho Syndrome	Biparietal narrowing, Malar flattening, Microcephaly, External ear malformation, Tapered finger, ...	ORPHA:2836
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia of the tibia, Hand monodactyly, ...	ORPHA:1986
Nicolaides-Baraitser Syndrome	Hypertrichosis, Sparse hair, Sparse medial eyebrow, Dry hair, Single transverse palmar crease, Sh...	OMIM:601358
Camptodactyly Syndrome, Guadalajara, Type Ii	Low-set ears, Pectus excavatum, Talipes equinovarus, Hypotelorism, Osteopenia, Camptodactyly of f...	OMIM:211920
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
2Q37 Microdeletion Syndrome	Sparse scalp hair, Conductive hearing impairment, Clinodactyly of the 5th finger, Deeply set eye,...	ORPHA:1001
Holzgreve Syndrome	Joint stiffness, Abnormal morphology of ulna, Abnormally ossified vertebrae, Low-set, posteriorly...	ORPHA:2167
Joubert Syndrome With Oculorenal Defect	Scoliosis, Low-set, posteriorly rotated ears, Hand polydactyly, Foot polydactyly, Biparietal narr...	ORPHA:2318
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Coxa vara, Flat capital femoral epiphysis, Short femur, Micrognathia, Wide capital femoral epiphy...	OMIM:147891
Craniosynostosis, Herrmann-Opitz Type	Convex nasal ridge, Craniosynostosis, Micrognathia, Micromelia, Brachydactyly, Abnormal rib morph...	ORPHA:2145
Atelosteogenesis Type Iii	Abnormality of the humerus, Hand clenching, Thoracic hypoplasia, Elbow dislocation, Patellar disl...	ORPHA:56305
Ring Chromosome 6 Syndrome	Short distal phalanx of finger, Short neck, Wide nasal bridge, Macrotia, Hypertelorism, Low poste...	ORPHA:1448
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Vertebral segmentation defect, Hypotelorism, Hypoplasia of the radius, Aplasia of the nose, Abnor...	ORPHA:3186
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Prominent sternum, Platyspondyly, Short neck, Cone-shaped capital femoral epiphysis, Small epiphy...	OMIM:300232
Intellectual Developmental Disorder, Autosomal Recessive 74	Prominent nose, Dolichocephaly, Brachydactyly, Wide nasal bridge	OMIM:617169
Ulna And Fibula, Hypoplasia Of	Hypoplasia of the ulna, Fibular hypoplasia	OMIM:191400
Hypochondroplasia	Spinal canal stenosis, Abnormality of femur morphology, Short toe, Osteoarthritis, Scoliosis, Abn...	ORPHA:429
Chromosome 3Pter-P25 Deletion Syndrome	Overlapping toe, Bulbous nose, Trigonocephaly, Low hanging columella, Postaxial polydactyly, Doli...	OMIM:613792
Nivelon-Nivelon-Mabille Syndrome	Narrow chest, Nail dysplasia, Distal clavicular thinning, Brachydactyly, Micromelia, Short phalan...	OMIM:600092
Dyssegmental Dysplasia, Silverman-Handmaker Type	Talipes equinovarus, Micrognathia, Neonatal death, Anisospondyly, Thoracic hypoplasia, Bowing of ...	OMIM:224410
Velo-Facial-Skeletal Syndrome	Clinodactyly of the 5th finger, Prominent fingertip pads, Abnormal thumb morphology, Large hands,...	ORPHA:3424
Waardenburg Syndrome, Type 3	Carpal synostosis, Premature graying of hair, Blue irides, Camptodactyly of finger, Brachydactyly...	OMIM:148820
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Abnormal pinna morphology, Prominent sternum, Elbow ankylosis, Hypoplasia of the radius, Hemivert...	OMIM:276820
Progressive Pseudorheumatoid Arthropathy Of Childhood	Platyspondyly, Irregular acetabular roof, Genu valgum, Generalized osteoporosis, Vertebral wedgin...	ORPHA:1159
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Narrow chest, Short toe, Pectus excavatum, Melanocytic nevus, Dep...	ORPHA:1327
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Postaxial Oligodactyly, Tetramelic	Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ...	OMIM:176240
Growth Delay Due To Insulin-Like Growth Factor I Resistance	Pectus excavatum, Broad nasal tip, Clinodactyly, Short palm, Wide nasal bridge	ORPHA:73273
Distal Trisomy 5Q	Hypertelorism, Absent thumb, Craniosynostosis, Hypoplasia of the radius, Micrognathia, Brachydact...	ORPHA:96097
Spondylometaphyseal Dysplasia, Schmidt Type	Abnormality of the epiphysis of the femoral head, Coxa vara, Kyphoscoliosis, Metaphyseal dysplasi...	ORPHA:93316
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Broad hallux phalanx, Short hallux, Midface retrusion, Broad thumb, Short...	ORPHA:93258
Microcephaly, Short Stature, And Limb Abnormalities	Dislocated radial head, Clinodactyly of the 5th finger, Hypoplasia of the radius, Brachydactyly, ...	OMIM:617604
Kyphomelic Dysplasia	Narrow chest, Joint stiffness, Undulate ribs, Micrognathia, Micromelia, Abnormal form of the vert...	ORPHA:1801
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Arachnodactyly, Oligodactyly, Humeroradial synostosis, Brachycephaly	OMIM:614416
Acrocephalopolydactyly	Genu recurvatum, Microtia, Short neck, Brachydactyly, Limb undergrowth, Short nose, Thoracic hypo...	ORPHA:221054
Distal Monosomy 17Q	Abnormal hip bone morphology, Small hand, Microtia, Micromelia, Abnormal form of the vertebral bo...	ORPHA:1597
Charlie M Syndrome	Micrognathia, Brachydactyly, Wide nasal bridge, Abnormal fingernail morphology, Abnormal metacarp...	ORPHA:1406
Waardenburg Syndrome, Type 2A	Numerous pigmented freckles, Partial albinism, Albinism, White eyebrow, White eyelashes, Synophry...	OMIM:193510
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Pectus excavatum, Abnormality of finger, Large iliac wing, Cone-shaped epiphysis, Abnormality of ...	ORPHA:2511
Chondroectodermal Dysplasia With Night Blindness	Talipes calcaneovarus, Epiphyseal dysplasia, Metaphyseal irregularity, Metaphyseal dysplasia, Ost...	ORPHA:319195
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Flat capital femoral epiphysis, Flexion contracture, Osteopenia, Platyspondyly, Broad femoral nec...	ORPHA:157965
Craniosynostosis-Mental Retardation-Clefting Syndrome	Forearm undergrowth, Lower limb undergrowth, Craniosynostosis	OMIM:218650
Muenke Syndrome	Carpal synostosis, Plagiocephaly, Hypermelanotic macule, Coronal craniosynostosis, Cone-shaped ep...	ORPHA:53271
Pentasomy X	Plagiocephaly, Clinodactyly of the 5th finger, Small hand, Micrognathia, Camptodactyly of finger,...	ORPHA:11
Fibrodysplasia Ossificans Progressiva	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the phalanges of the hallux, Spinal rigidit...	ORPHA:337
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Craniosynostosis, Osteopenia, Talipes equinovalgus, Pectus carinatum, Radioulnar synostosis, Sing...	OMIM:130070
Lig4 Syndrome	Clinodactyly of the 5th finger, Micrognathia, Microcephaly, Brachycephaly, Biparietal narrowing	ORPHA:99812
Greig Cephalopolysyndactyly Syndrome	Hirsutism, Craniosynostosis, Dolichocephaly, Camptodactyly of toe, Broad hallux phalanx, Wide nas...	OMIM:175700
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Narrow chest, Low-set ears, Hypertrichosis, Flexion contracture, Short long bone, Short humerus, ...	OMIM:619479
Metatropic Dysplasia	Narrow chest, Kyphosis, Joint stiffness, Halberd-shaped pelvis, Coarse metaphyseal trabecularizat...	ORPHA:2635
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Clinodactyly of the 5th finger, Ocular albinism, Microtia, Absent radius, Cupped ear, Micrognathi...	ORPHA:1352
Joubert Syndrome With Renal Defect	Hand polydactyly, Scoliosis, Low-set, posteriorly rotated ears, Biparietal narrowing	ORPHA:220497
Metaphyseal Chondrodysplasia, Schmid Type	Metaphyseal sclerosis, Femoral bowing, Platyspondyly, Distal tibial bowing, Irregular acetabular ...	OMIM:156500
Fibrodysplasia Ossificans Progressiva	Sensorineural hearing impairment, Conductive hearing impairment, Clinodactyly of the 5th finger, ...	OMIM:135100
Cutis Laxa, Autosomal Recessive, Type Iie	Clinodactyly of the 5th finger, Pectus excavatum, Convex nasal ridge, Craniosynostosis, Broad nas...	OMIM:619451
Greig Cephalopolysyndactyly Syndrome	Craniosynostosis, Preaxial hand polydactyly, Broad hallux phalanx, Wide nasal bridge, Postaxial h...	ORPHA:380
Mental Retardation, X-Linked, With Craniofacial Dysmorphism	Frontal bossing, Plagiocephaly, Brachycephaly	OMIM:300064
Weill-Marchesani Syndrome 2	Spinal canal stenosis, Joint stiffness, Broad metacarpals, Lumbar hyperlordosis, Thickened helice...	OMIM:608328
Congenital Arthrogryposis With Anterior Horn Cell Disease	Facial diplegia, Kyphosis, Talipes equinovarus, Areflexia of lower limbs, Micrognathia, Hip dyspl...	OMIM:611890
Distal 22Q11.2 Microduplication Syndrome	Abnormal antihelix morphology, Protruding ear, Macrocephaly, Abnormal helix morphology, Micrognat...	ORPHA:261337
Cebalid Syndrome	Plagiocephaly, Thick eyebrow, Depressed nasal ridge, Platystencephaly, Dolichocephaly, Depressed ...	OMIM:618774
Acrodysostosis With Multiple Hormone Resistance	Spinal canal stenosis, Short toe, Hypoplastic vertebral bodies, Fair hair, Blue irides, Narrow ve...	ORPHA:280651
Ulbright-Hodes Syndrome	Aplasia/Hypoplasia of the ulna, Abnormal pinna morphology, Short sternum, Talipes equinovarus, Sh...	ORPHA:3404
Potocki-Shaffer Syndrome	Parietal foramina, Micrognathia, Depressed nasal tip, Broad nasal tip, Brachycephaly, Prominent n...	ORPHA:52022
2Q32Q33 Microdeletion Syndrome	Clinodactyly of the 5th finger, Toe clinodactyly, Convex nasal ridge, Talipes equinovarus, Sparse...	ORPHA:251019
Trisomy 18-Like Syndrome	Micrognathia, Wide nasal bridge	OMIM:601161
Orofaciodigital Syndrome Xi	Bulbous nose, Hypoplasia of the odontoid process, Wide nasal bridge, Postaxial polydactyly	OMIM:612913
Hidrotic Ectodermal Dysplasia	Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Generalized hypotrichosis, Anonychia, ...	ORPHA:189
Craniosynostosis 2	Craniosynostosis, Brachyturricephaly, Brachydactyly, Frontal bossing, Triphalangeal thumb, Bicoro...	OMIM:604757
Schwartz-Jampel Syndrome, Type 1	Overfolded helix, Quadriceps muscle weakness, Platyspondyly, Short neck, Congenital hip dislocati...	OMIM:255800
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Spondylometaphyseal Dysplasia, Axial	Narrow chest, Coxa vara, Narrow greater sciatic notch, Reduced sperm motility, Platyspondyly, Sco...	OMIM:602271
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Protruding ear, Clinodactyly of the 5th finger, Biparietal narrowing, Low-set, posteriorly rotate...	ORPHA:2031
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition	Irregular vertebral endplates, Metaphyseal irregularity, Slender finger, Flared metaphysis, Platy...	OMIM:601668
Camurati-Engelmann Disease	Abnormality of femur morphology, Abnormality of the humerus, Genu valgum, Proptosis, Hypogonadism...	ORPHA:1328
Chromosome 16P13.3 Duplication Syndrome	Short toe, Protruding ear, Pectus excavatum, Pes cavus, Short phalanx of finger, Tapered finger, ...	OMIM:613458
Focal Dermal Hypoplasia	Sparse hair, Congenital hip dislocation, Umbilical hernia, Midclavicular aplasia, Diastasis recti...	OMIM:305600
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Plagiocephaly, Clinodactyly of the 5th finger, Depressed nasal ridge, Small hand, Dolichocephaly,...	OMIM:618672
Lipodystrophy-Intellectual Disability-Deafness Syndrome	Dense metaphyseal bands, Osteopenia, Sensorineural hearing impairment, Slender long bones with na...	ORPHA:50811
Pseudodiastrophic Dysplasia	Brachycephaly, Talipes equinovarus, Micrognathia, Camptodactyly, Phalangeal dislocation, Rhizomel...	OMIM:264180
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects	Clinodactyly of the 5th finger, Microtia, first degree, Cupped ear, Micrognathia, Wide nasal brid...	OMIM:600123
Craniodiaphyseal Dysplasia, Autosomal Dominant	Thickened ribs, Craniofacial hyperostosis, Diaphyseal sclerosis, Depressed nasal bridge, Choanal ...	OMIM:122860
Cleidocranial Dysplasia, Recessive Form

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