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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

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

Disease Similarity of
phenotypes
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