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
Limited elbow movement, Dislocated radial head, Congenital finger flexion contractures, Upper lim... ORPHA:93320
Smith-Mccort Dysplasia 1
Short metacarpal, Kyphosis, Microcephaly, Iliac crest serration, Hypoplastic facial bones, Metaph... OMIM:607326
Fibrochondrogenesis 1
Narrow greater sciatic notch, Abnormal pinna morphology, Short long bone, Short ribs, Proptosis, ... OMIM:228520
Pelviscapular Dysplasia
Abnormal pinna morphology, Elbow flexion contracture, Abnormality of the joint spaces of the elbo... ORPHA:93333
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal striations, Cone-shaped epiphyses of the phalanges of the hand, Abnormality of the ve... OMIM:250460
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Narrow greater sciatic notch, Hypoplasia of the ulna, Rhizomelia, Hypotelorism, Flared metaphysis... OMIM:602471
Pseudoachondroplasia
Abnormal form of the vertebral bodies, Short long bone, Flat acetabular roof, Increased laxity of... ORPHA:750
Spondyloepimetaphyseal Dysplasia, Irapa Type
Limited elbow extension, Hypoplastic sacrum, Genu valgum, Enlargement of the costochondral juncti... OMIM:271650
Fibrochondrogenesis
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Bell-shaped thorax, Narrow chest, ... ORPHA:2021
Dyggve-Melchior-Clausen Disease
Narrow greater sciatic notch, Multicentric ossification of proximal humeral epiphyses, Cone-shape... OMIM:223800
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Limited elbow extension, Type E brachydactyly, Irregular epiphyses, Delay... ORPHA:1856
Epiphyseal Dysplasia, Multiple, 1
Genu valgum, Irregular epiphyses, Hip osteoarthritis, Small epiphyses, Delayed epiphyseal ossific... OMIM:132400
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Short metacarpal, Hypoplastic pelvis, Abnormal epiphysis morphology, Broad palm... ORPHA:93351
Schneckenbecken Dysplasia
Snail-like ilia, Short long bone, Flat acetabular roof, Short ribs, Dumbbell-shaped long bone, Th... OMIM:269250
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Short greater sciatic notch, Pectus carinatum, Flat acetabular r... ORPHA:93314
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Limitation of joint mobility, Hypoplasia of the femor... OMIM:619598
Multiple Epiphyseal Dysplasia Type 4
Abnormal earlobe morphology, Skewfoot, Abnormal pinna morphology, Stiff ankle, Short metacarpal, ... ORPHA:93307
Acrodysostosis
Abnormal femur morphology, Abnormal form of the vertebral bodies, Short metacarpal, Hypogonadism,... ORPHA:950
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Scoliosis, Vertebral segmentation defect, Abnormality of the hum... ORPHA:1570
Atelosteogenesis, Type I
Tibial bowing, Clubbing, Short metacarpal, Proptosis, Short humerus, Thoracic hypoplasia, Thoraci... OMIM:108720
Desbuquois Dysplasia 1
Sandal gap, Hyperlordosis, Flat acetabular roof, Proptosis, Kyphosis, Broad femoral neck, Bifid d... OMIM:251450
Brachydactyly Type A1
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Distal symphalangism of hands, Short hall... ORPHA:93388
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Double-layered patella, Scoliosis, Short metacarpal, Hypoplasia o... OMIM:226900
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Spondyloperipheral Dysplasia
Rhizomelic leg shortening, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:271700
Platyspondylic Dysplasia, Torrance Type
Abnormal carpal morphology, Platyspondyly, Narrow chest, Metaphyseal cupping, Short thorax, Low-s... ORPHA:85166
Thanatophoric Dysplasia, Type Ii
Narrow chest, Short greater sciatic notch, Flared metaphysis, Cloverleaf skull, Wide-cupped costo... OMIM:187601
Rhizomelic Chondrodysplasia Punctata, Type 5
Pes cavus, Swan neck-like deformities of the fingers, Metaphyseal cupping, Narrow iliac wing, Cox... OMIM:616716
Isotretinoin Syndrome
Sacral dimple, Spina bifida occulta, Microtia, Biparietal narrowing, Micrognathia ORPHA:2305
Robin Sequence-Oligodactyly Syndrome
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Abnormal form of the vertebral bo... ORPHA:3104
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Short first metatarsal, Ulnar bowing, Epiphyseal stippling, Highly arched... OMIM:619135
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Absent fifth metatarsal, Pec... OMIM:620662
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Short metatarsal, Deformed humeral heads, Short metacarpal, Coxa vara, Short humerus,... OMIM:601438
Rhizomelic Dysplasia, Patterson-Lowry Type
Short nose, Genu valgum, Rhizomelia, Abnormal form of the vertebral bodies, Hyperlordosis, Deform... ORPHA:2831
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Achondrogenesis, Type Ia
Hypoplastic sacrum, Broad clavicles, Abnormal hand bone ossification, Short ribs, Decreased skull... OMIM:200600
Brachydactyly, Type A1
Thin proximal phalanges with broad epiphyses of the hand, Proportionate shortening of all digits,... OMIM:112500
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Abnormal hip bone morphology, Abnormal calvaria morphology, Finger syndactyly, Scoliosis, Hyperlo... ORPHA:1323
Leri-Weill Dyschondrosteosis
Limited elbow movement, Tibial bowing, Increased carrying angle, Mesomelia, Coxa valga, Hypoplasi... OMIM:127300
Cousin Syndrome
Dislocated radial head, Hypoplastic iliac wing, Wrist flexion contracture, Hypoplastic ischia, An... OMIM:260660
Acromicric Dysplasia
Short long bone, Short metacarpal, Short foot, Long eyelashes, Short palm, Short phalanx of finge... OMIM:102370
Acromesomelic Dysplasia 4
Sandal gap, Short metacarpal, Mesomelia, Metaphyseal irregularity, Prominent deltoid tuberosities... OMIM:619636
Acromicric Dysplasia
Short nose, Abnormal femur morphology, Short metacarpal, Long eyelashes, Joint stiffness, Short p... ORPHA:969
Omodysplasia 2
Fibular hypoplasia, Limited elbow flexion/extension, Clinodactyly of the 5th finger, Recurrent ot... OMIM:164745
Congenital Radioulnar Synostosis
Polydactyly, Limited elbow movement, Abnormality of the musculature of the upper arm, Dislocated ... ORPHA:3269
Ruvalcaba Syndrome
Limited elbow extension, Short metatarsal, Narrow chest, Scoliosis, Short metacarpal, Kyphosis, M... OMIM:180870
Thanatophoric Dysplasia, Type I
Platyspondyly, Narrow chest, Short greater sciatic notch, Flared metaphysis, Wide-cupped costocho... OMIM:187600
Brachydactyly Type C
Clinodactyly of the 5th finger, Short metatarsal, Aplasia/Hypoplasia of the 1st metacarpal, Pseud... ORPHA:93384
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Tibial bowing, Wide proximal femoral metaphysis, Broad femoral neck, Hypop... ORPHA:85188
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Turricephaly, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Finger syndactyl... ORPHA:1005
Saul-Wilson Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Sensorineural hearing impai... OMIM:618150
Cleidocranial Dysplasia
Chronic otitis media, Sinusitis, Abnormal epiphysis morphology, Abnormal sacrum morphology, Abnor... ORPHA:1452
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Pectus carinatum, Kyphosis, Split foot, Hip dislocation, Hypopla... ORPHA:958
Trichorhinophalangeal Syndrome, Type Iii
Osteopenia, Short finger, Cone-shaped epiphyses of the middle phalanges of the hand, Protruding e... OMIM:190351
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Abnormal metaphysis morphology, Abnormal diaphysis morphology, Abnormal pelvic girdle bone morpho... ORPHA:2779
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Femoral retroversion, Sensorineural hearing impairment, Scoliosis, Kyph... ORPHA:79107
Craniodigital-Intellectual Disability Syndrome
Brachycephaly, Short nose, Thick hair, Spina bifida occulta, Finger syndactyly, Narrow nasal brid... ORPHA:1514
Multiple Synostoses Syndrome 1
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Aplastic/hypoplastic toenai... OMIM:186500
Anauxetic Dysplasia 3
Small nail, Femoral bowing, Short metacarpal, Pectus excavatum, Trident hand, Joint hypermobility... OMIM:618853
Acromesomelic Dysplasia 1
Cone-shaped epiphyses of the phalanges of the hand, Short metacarpal, Broad metatarsal, Joint hyp... OMIM:602875
Osteoglophonic Dysplasia
Proptosis, Short metacarpal, Broad metatarsal, Pectus excavatum, Broad thumb, Shallow orbits, Bro... OMIM:166250
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Narrow chest, Sensorineural hearing impairment, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Pseudoachondroplasia
Short long bone, Short metacarpal, Kyphosis, Metaphyseal irregularity, Short distal phalanx of fi... OMIM:177170
Smith-Mccort Dysplasia 2
Pectus carinatum, Hyperlordosis, Flat acetabular roof, Short metacarpal, Broad metatarsal, Promin... OMIM:615222
Metaphyseal Anadysplasia
Abnormal metaphysis morphology, Abnormal ulnar metaphysis morphology, Abnormality of the lower li... ORPHA:1040
Paternal Uniparental Disomy Of Chromosome X
Cubitus valgus, Low-set, posteriorly rotated ears, Infertility, Short metacarpal, Low posterior h... ORPHA:261524
Cenani-Lenz Syndrome
Abnormal form of the vertebral bodies, Oligodactyly, Proptosis, Hip dislocation, Hypoplasia of th... ORPHA:3258
3M Syndrome
Rocker bottom foot, Hyperlordosis, Enlarged thorax, Kyphosis, Hypoplastic pelvis, Hypoplastic isc... ORPHA:2616
Intellectual Disability, Buenos-Aires Type
Clinodactyly of the 5th finger, Abnormal calvaria morphology, Pectus carinatum, Mandibular progna... ORPHA:3079
Femoral-Facial Syndrome
Abnormal fibula morphology, Short nose, Scoliosis, Vertebral segmentation defect, Microtia, Abnor... ORPHA:1988
Chondrodysplasia With Joint Dislocations, Gpapp Type
Irregular epiphyses of the metacarpals, Short long bone, Proptosis, Short metacarpal, Patellar di... OMIM:614078
Pde4D Haploinsufficiency Syndrome
Short metacarpal, Broad metatarsal, Joint hypermobility, Cone-shaped epiphysis, Caudal interpedic... ORPHA:439822
Boomerang Dysplasia
Abnormal bone ossification, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metaca... ORPHA:1263
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Carpal bone hypoplasia, Pes planus, Platyspondyly, Joint hypermobility, D... OMIM:618395
Ulna Metaphyseal Dysplasia Syndrome
Abnormal metaphysis morphology, Abnormal fibula morphology, Abnormal hip bone morphology, Abnorma... ORPHA:1837
Acrodysostosis 2 With Or Without Hormone Resistance
Short nose, Red hair, Short metatarsal, Short metacarpal, Short phalanx of finger, Spinal canal s... OMIM:614613
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Rocker bottom foot, Kyphoscoliosis, Abnormal hip bone morphology, Abnormal sternum morphology, Sh... ORPHA:457395
Trichorhinophalangeal Syndrome Type 1
Leukonychia, Protruding ear, Clinodactyly of the 5th finger, Short metatarsal, Pectus carinatum, ... ORPHA:77258
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Melnick-Needles Syndrome
Kyphoscoliosis, Cone-shaped epiphyses of the phalanges of the hand, Tibial bowing, Proptosis, Pec... OMIM:309350
Brachydactyly-Preaxial Hallux Varus Syndrome
Radial club hand, Short metatarsal, Short metacarpal, Synophrys, Broad thumb, Micrognathia, Abnor... ORPHA:1278
Crane-Heise Syndrome
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Decreased sk... ORPHA:1512
Chromosome 8Q22.1 Duplication Syndrome
Pes cavus, Cubitus valgus, Short metatarsal, Cervical C2/C3 vertebral fusion, Genu recurvatum, Li... OMIM:151200
Campomelic Dysplasia
Kyphoscoliosis, Absent sternal ossification, Dislocated radial head, Hypoplastic iliac wing, Pect... OMIM:114290
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Hypoplastic iliac wing, Microtia, Tibial bowing, Short distal phalanx of finger, Cone-shaped epip... OMIM:210720
Heart-Hand Syndrome Type 2
Abnormal clavicle morphology, Short 4th metacarpal, Abnormal shoulder morphology, Abnormality of ... ORPHA:1350
Epiphyseal Dysplasia, Multiple, 5
Genu valgum, Irregular epiphyses, Small epiphyses, Arthralgia of the hip, Delayed ossification of... OMIM:607078
Van Den Ende-Gupta Syndrome
Narrow foot, Dislocated radial head, Small earlobe, Femoral bowing, Short ribs, Pectus excavatum,... OMIM:600920
Trichorhinophalangeal Syndrome, Type I
Pectus carinatum, Hyperlordosis, Short metacarpal, Cone-shaped epiphyses of the proximal phalange... OMIM:190350
Odontochondrodysplasia 1
Biconvex vertebral bodies, Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, ... OMIM:184260
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Metacarpal synostosis, Scoliosis, Hemivertebrae... OMIM:212780
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Rocker bottom foot, Abnormal earlobe morphology, Proximal tibial and fibular fusion, Abnormal pin... ORPHA:95699
Pelvis-Shoulder Dysplasia
Clinodactyly of the 5th finger, Spina bifida occulta, Short clavicles, Hypoplastic acetabulae, Hy... OMIM:169550
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Recurrent otitis media, Cervical C2/C3 vertebral fusion, Osseous finger syndactyly, 3-4 finger cu... ORPHA:370010
Campomelic Dysplasia
Tracheobronchomalacia, Tibial bowing, Femoral bowing, Short long bone, Kyphosis, Proptosis, Hip d... ORPHA:140
Rhizomelic Chondrodysplasia Punctata, Type 3
Short femur, Short humerus, Rhizomelia, Epiphyseal stippling OMIM:600121
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, M... OMIM:249700
Marinesco-Sjogren Syndrome
Cubitus valgus, Short metatarsal, Scoliosis, Rimmed vacuoles, Short metacarpal, Kyphosis, Hypergo... OMIM:248800
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Kyphoscoliosis, Osteopenia, Platyspondyly, Flat capital femoral epiphysis, Flared metaphysis, Dis... OMIM:612350
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Aplastic/hypoplastic toenail, Tibial bow... ORPHA:240
Schneckenbecken Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Fibular hypoplasia, Macrocephaly, Lat... ORPHA:3144
Exostoses, Multiple, Type Ii
Genu valgum, Cervical myelopathy, Protuberances at ends of long bones, Rib exostoses, Scapular ex... OMIM:133701
Exostoses, Multiple, Type I
Genu valgum, Cervical myelopathy, Protuberances at ends of long bones, Rib exostoses, Scapular ex... OMIM:133700
Weismann-Netter Syndrome
Abnormal fibula morphology, Abnormal femur morphology, Abnormal tibia morphology, Abnormal hip bo... ORPHA:3344
Femur-Fibula-Ulna Complex
Abnormal femur morphology, Finger syndactyly, Split hand, Micromelia, Humeroradial synostosis, Sh... ORPHA:2019
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Limited elbow extension, Osteopenia, Carpal bone hypoplasia, Short nose, Small epiphyses, Cranios... OMIM:616723
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Pectus carinatum, Scoliosis, Abnormal rib morp... ORPHA:3268
Wahab Syndrome
Short metacarpal, Camptodactyly, Short foot, Short palm, Syndactyly, Short thumb, Adducted thumb,... OMIM:615170
Thanatophoric Dysplasia Type 1
Abnormal metaphysis morphology, Narrow chest, Short greater sciatic notch, Wide anterior fontanel... ORPHA:1860
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Rhizomelia, Epiphyseal stippling, Scoliosis, Stippled calcification proximal humeral ... OMIM:222765
Dysspondyloenchondromatosis
Kyphoscoliosis, Abnormal fibula morphology, Abnormal ulnar metaphysis morphology, Genu valgum, Me... ORPHA:85198
Cono-Spondylar Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Scoliosis, Low-set ears, Kyphosis, Epiphyseal... ORPHA:420794
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hyperconvex vertebral body endplates, Corner fracture of metaphysis, Pectus carinatum, Scoliosis,... OMIM:184255
Metaphyseal Chondrodysplasia, Schmid Type
Short tubular bones of the hand, Distal femoral metaphyseal irregularity, Femoral bowing, Short l... ORPHA:174
Mucolipidosis Ii Alpha/Beta
Short long bone, Flat acetabular roof, Pectus excavatum, Flared iliac wing, Hypopigmentation of t... OMIM:252500
Otospondylomegaepiphyseal Dysplasia
Sandal gap, Sensorineural hearing impairment, Tibial bowing, Proptosis, Short metacarpal, Abnorma... ORPHA:1427
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Abnormal rib morphology OMIM:602196
Atelosteogenesis Type Ii
Sandal gap, Tracheobronchomalacia, Short ribs, Short metacarpal, Short lower limbs, Dumbbell-shap... ORPHA:56304
Spondyloepiphyseal Dysplasia Congenita
Limited elbow movement, Spinal rigidity, Reduced bone mineral density, Short long bone, Flat acet... ORPHA:94068
Craniofrontonasal Dysplasia
Sandal gap, Pectus excavatum, Low posterior hairline, Craniosynostosis, Widow's peak, Abnormal cl... ORPHA:1520
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Split foot, Hip dislocation, Hypoplasia of the u... OMIM:200980
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metatarsal, Sandal gap, Cone-shaped epiphyses of the phalanges of the hand, Short thorax, N... OMIM:617102
Ivic Syndrome
Limited elbow movement, Absent thumb, Hypoplasia of the ulna, Hypoplasia of the radius, Scoliosis... OMIM:147750
Cri-Du-Chat Syndrome
Premature graying of hair, Short metatarsal, Single transverse palmar crease, Scoliosis, High axi... OMIM:123450
Craniosynostosis 1
Turricephaly, Right unicoronal synostosis, Prominent occiput, Biparietal narrowing, Frontal bossi... OMIM:123100
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Short ribs, Decreased skull ossification, Multiple prenatal fractures, Thoracic hypoplasia, Adduc... OMIM:616897
Frontometaphyseal Dysplasia
Limited elbow movement, Mixed hearing impairment, Limitation of knee mobility, Dislocated radial ... ORPHA:1826
Chst3-Related Skeletal Dysplasia
Kyphoscoliosis, Genu valgum, Irregular epiphyses, Rhizomelia, Small epiphyses, Abnormal form of t... ORPHA:263463
Brachydactyly, Type C
Pseudoepiphysis of the 2nd finger, Triangular shaped middle phalanx of the 2nd finger, Ulnar devi... OMIM:113100
Pseudopseudohypoparathyroidism
Short 4th metacarpal, Short metatarsal, Ectopic ossification, Brachydactyly, Short distal phalanx... ORPHA:79445
Cleidocranial Dysplasia 1
Spondylolysis, Delayed pubic bone ossification, Spondylolisthesis, Cone-shaped epiphyses of the p... OMIM:119600
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Flared metaphysis, Short middle phalanx of the 5th finger, Multiple small vertebral fractures, Os... OMIM:156510
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Narrow chest, Postaxial hand polydactyly, Short metacarpal, Mesomelia, Brachydactyly,... OMIM:611263
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... OMIM:609945
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormality of the hand, Abnormal foot morpholo... ORPHA:75508
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Anterior scalloping of vertebral bodies, Hypoplastic iliac wing, Microtia, Short long bone, Short... OMIM:611717
Brachydactyly Type E
Aplasia/Hypoplasia of the distal phalanx of the hallux, Type E brachydactyly, Short metatarsal, S... ORPHA:93387
Stickler Syndrome, Type Iv
Genu valgum, Flat capital femoral epiphysis, Intervertebral space narrowing, Hypoplastic iliac wi... OMIM:614134
Acromesomelic Dysplasia, Hunter-Thompson Type
Bilateral single transverse palmar creases, Tarsal synostosis, Abnormally shaped carpal bones, Sc... ORPHA:968
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Short l... ORPHA:2256
Toluene Embryopathy
Low-set ears, Biparietal narrowing, Microcephaly, Micrognathia, Protruding ear, Hypoplasia of the... ORPHA:1920
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Nail dysplasia, Hypoplastic sacrum, Small nail, Microtia, Short metacarpal, Hypoplastic pelvis, S... OMIM:614813
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Microtia, Hirsutism, Low-set ears, Synophrys, Micrognathia, Hypertelorism... ORPHA:357175
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Talipes, Absent fingernail, Micromelia, Metatar... ORPHA:2249
Kyphomelic Dysplasia
Tibial bowing, Femoral bowing, Flat acetabular roof, Short metacarpal, Short humerus, Thoracic hy... OMIM:211350
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal metacarpal morphology, Abnormal hair quantity, Low posterior hairline, Abnormal morpholo... ORPHA:2233
Van Maldergem Syndrome 1
Sensorineural hearing impairment, Microtia, Joint hypermobility, Clinodactyly, Short 4th metacarp... OMIM:601390
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Kyphoscoliosis, Small proximal tibial epiphyses, Broad distal phalanx of finger, Small nail, Hypo... ORPHA:96334
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Narrow chest, Short long bone, Fl... OMIM:614091
Brachydactyly-Syndactyly, Zhao Type
Hallux valgus, Short fifth metatarsal, Short middle phalanx of the 5th finger, Symphalangism affe... ORPHA:93409
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Small nail, Absent toe, Short ribs, Hypoplastic pelvis, Syndactyly, Umbilical hernia, Scoliosis, ... OMIM:308050
Achondroplasia
Narrow greater sciatic notch, Femoral bowing, Short ribs, Trident hand, Death in infancy, Thoraci... OMIM:100800
Brachydactyly, Type A1, B
Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the hand, Type A brachydact... OMIM:607004
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad metacarpals, Short phalanx of finger, Broad phalanx, Sp... OMIM:618724
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Abnormal femur morphology, Clinodactyly of the 5th finger, Finge... ORPHA:2141
Ulnar Hypoplasia With Mental Retardation
Limited elbow movement, Limitation of knee mobility, Absent fingernail, Absent toenail, Bilateral... OMIM:276821
Tetraploidy
Radial club hand, Biparietal narrowing, Microcephaly, Micrognathia, Hypoplasia of the ear cartilage ORPHA:3305
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Clinodactyly of the 5th finger, Abnormal pinna morphology, Biparietal narrowing, Hypoplasia of th... ORPHA:228396
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Microtia, Hirsutism, Low-set ears, Synophrys, Micrognathia, Hypertelorism... OMIM:615162
Dystonia-Deafness Syndrome 1
Femoral retroversion, Sensorineural hearing impairment, Hypoplastic scapulae, Kyphoscoliosis OMIM:607371
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Pectus carinatum, Triangular shaped distal phalanges of the hand, Short long bone, Short ribs, Sh... OMIM:271665
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Wide anterior fontanel, Bilateral talipes equinovarus, Atresia of the external auditory canal, Me... OMIM:601356
Van Maldergem Syndrome 2
Sensorineural hearing impairment, Microtia, Joint hypermobility, Clinodactyly, Short 4th metacarp... OMIM:615546
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Triphalangeal thumb, Thick hair, Small nail, Absent... OMIM:618658
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Synophrys, Frontal bossing, Micrognathia, Adducted thumb, Wide nasal bridge ORPHA:3207
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Short hallux, Hitchhiker thumb, Short metacarpal, Hallux varus, Short thumb, Sh... OMIM:112450
Mental Retardation Syndrome, Mietens-Weber Type
Dislocated radial head, Elbow flexion contracture, Forearm undergrowth, Absent proximal radial ep... OMIM:249600
Potocki-Shaffer Syndrome
Brachycephaly, Short nose, Turricephaly, Parietal foramina, Sparse lateral eyebrow, 2-5 finger cu... OMIM:601224
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short... ORPHA:93396
Mesomelic Dysplasia, Nievergelt Type
Bilateral single transverse palmar creases, Abnormal fibula morphology, Tarsal synostosis, Abnorm... ORPHA:2633
Desbuquois Dysplasia 2
Pectus carinatum, Short long bone, Flat acetabular roof, Short metacarpal, Pectus excavatum, Prop... OMIM:615777
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Abnormal hair morphology, Abnormal pinna morphol... OMIM:277150
Short-Rib Thoracic Dysplasia 12
Anencephaly, Abnormal pinna morphology, Short long bone, Short ribs, Short finger, Short thorax, ... OMIM:269860
Czech Dysplasia
Short metatarsal, Flat capital femoral epiphysis, Intervertebral space narrowing, Narrow iliac wi... OMIM:609162
Osteogenesis Imperfecta, Type Viii
Tibial bowing, Femoral bowing, Short metacarpal, Kyphosis, Decreased skull ossification, Multiple... OMIM:610915
Pseudopseudohypoparathyroidism
Short metatarsal, Short metacarpal, Osteoporosis, Brachydactyly, Short neck OMIM:612463
Otopalatodigital Syndrome, Type Ii
Rocker bottom foot, Kyphoscoliosis, Spondylolysis, Femoral bowing, Tibial bowing, Short metacarpa... OMIM:304120
Craniodiaphyseal Dysplasia
Diaphyseal undertubulation, Craniofacial hyperostosis, Abnormal rib morphology, Frontal bossing, ... ORPHA:1513
Adams-Oliver Syndrome 3
Short 5th toe, Short metatarsal, Absent toe, 2-3 toe syndactyly, Short palm, Short distal phalanx... OMIM:614814
Atelosteogenesis Type I
Abnormal fibula morphology, Absent or minimally ossified vertebral bodies, Rhizomelia, Narrow che... ORPHA:1190
Roifman-Chitayat Syndrome
Osteopenia, Short metatarsal, Arthritis, Short metacarpal, Umbilical hernia, Short neck, Hypertel... OMIM:613328
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Kyphoscoliosis, Bilateral single transverse palmar creases, Multiple carpal ossification centers,... OMIM:143095
Jackson-Weiss Syndrome
Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Proptosis, Broad metatarsal, Sp... ORPHA:1540
Robinow Syndrome, Autosomal Recessive 1
Nail dysplasia, Hypoplastic sacrum, Radial deviation of finger, Mesomelic arm shortening, Small n... OMIM:268310
Cohen Syndrome
Genu valgum, Cubitus valgus, Short metatarsal, Bone spicule pigmentation of the retina, Facial hy... OMIM:216550
Autosomal Dominant Omodysplasia
Short nose, Rhizomelia, Short palm, Micrognathia, Short humerus, Short 1st metacarpal, Patellar d... ORPHA:93328
Epiphyseal Dysplasia, Multiple, 3
Limited elbow extension, Irregular epiphyses, Small epiphyses, Delayed epiphyseal ossification, S... OMIM:600969
Pelvis-Shoulder Dysplasia
Aplasia/hypoplasia of the femur, Abnormal form of the vertebral bodies, Dislocated radial head, A... ORPHA:2839
Ruvalcaba Syndrome
Hypopigmented skin patches, Short nose, Clinodactyly of the 5th finger, Proximal placement of thu... ORPHA:3121
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Pes cavus, Distal lower limb muscle weakness, Abnormal foot morphology, Distal lower limb amyotro... ORPHA:324442
Acrodysostosis 1 With Or Without Hormone Resistance
Cone-shaped epiphyses of the phalanges of the hand, Dislocated radial head, Calvarial hyperostosi... OMIM:101800
Greenberg Dysplasia
Short long bone, Short ribs, Short metacarpal, Decreased skull ossification, Multiple prenatal fr... OMIM:215140
Duane-Radial Ray Syndrome
Pectoralis hypoplasia, Sandal gap, Sensorineural hearing impairment, Short humerus, Absent thumb,... OMIM:607323
Distal Deletion 10Q
Sandal gap, Prominent fingertip pads, Facial diplegia, Pectus excavatum, Cochlear malformation, P... ORPHA:96148
Satoyoshi Syndrome
Amenorrhea, Genu valgum, Osteolytic defects of the phalanges of the hand, Short metatarsal, Skele... OMIM:600705
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Hypoplasia of the ulna, Abnormality of the wrist, Radial club hand, Ulnar bowing, Aplasia/Hypopla... ORPHA:2878
Spondylometaphyseal Dysplasia, Type A4
Narrow greater sciatic notch, Sclerotic humeral metaphysis, Costochondral joint sclerosis, Enlarg... OMIM:609052
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Talipes, Radial deviation o... OMIM:227270
Zechi-Ceide Syndrome
Long foot, Short metatarsal, Sandal gap, Small nail, Thick hair, Abnormal earlobe morphology, Mic... ORPHA:217017
Lamb-Shaffer Syndrome
Pectus carinatum, Frontal bossing, Long fingers, Long hallux, Overlapping toe, Bulbous nose, Wide... OMIM:616803
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the wrist, Split hand, Postaxial hand polydactyly, Micromelia, Short humerus, Abno... ORPHA:2491
Otopalatodigital Syndrome, Type I
Nail dysplasia, Nail dystrophy, Broad distal phalanx of finger, Sandal gap, Dislocated radial hea... OMIM:311300
Fibular Hemimelia
Abnormal bone ossification, Proximal femoral focal deficiency, Abnormal lower limb bone morpholog... ORPHA:93323
Temtamy Preaxial Brachydactyly Syndrome
Tarsal synostosis, Short metatarsal, Hitchhiker thumb, Highly arched eyebrow, Bilateral sensorine... OMIM:605282
Hypertension And Brachydactyly Syndrome
Short phalanx of finger, Cone-shaped epiphysis, Type E brachydactyly, Short metacarpal OMIM:112410
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Abnormality of the hand, Flared femoral metaphysis, Genu valgum, Flat distal femoral epiphysis, A... OMIM:609324
Weaver Syndrome
Radial deviation of finger, Hypoplastic iliac wing, Prominent fingertip pads, Short ribs, Limited... OMIM:277590
Cornelia De Lange Syndrome 2
Postnatal growth retardation, Brachycephaly, Proximal placement of thumb, Highly arched eyebrow, ... OMIM:300590
Martsolf Syndrome 1
Slender ulna, Pectus carinatum, Short metacarpal, Pectus excavatum, Low posterior hairline, Broad... OMIM:212720
Codas Syndrome
Short nose, Abnormal form of the vertebral bodies, Sensorineural hearing impairment, Scoliosis, A... ORPHA:1458
Macrocephaly, Benign Familial
Frontal bossing, Macrocephaly, Dolichocephaly, Biparietal narrowing OMIM:153470
Langer Mesomelic Dysplasia
Abnormal carpal morphology, Madelung deformity, Mesomelic/rhizomelic limb shortening, Bowing of t... ORPHA:2632
Roifman Syndrome
Biconvex vertebral bodies, Clinodactyly of the 5th finger, Recurrent otitis media, Single transve... OMIM:616651
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Bilateral single transverse... ORPHA:1972
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Abnormal antihelix morphology, Short metacarpal, Hearing impairment, Short thumb, Hypoplasia of t... ORPHA:2489
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Clinodactyly of the 5th toe, Clinodactyly of the 5th finger, Short metatar... OMIM:170390
Acromesomelic Dysplasia, Maroteaux Type
Beaking of vertebral bodies, Abnormal form of the vertebral bodies, Vertebral wedging, Scoliosis,... ORPHA:40
Bartsocas-Papas Syndrome 1
Small nail, Hypoplastic iliac wing, Microtia, Oligodactyly, Short metacarpal, Absent thumb, Synda... OMIM:263650
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Beaking of vertebral bodies, Mixed hearing impairment, Large tarsal bones, Flared metaphysis, Sen... OMIM:215150
Acromegaloid Facial Appearance Syndrome
Highly arched eyebrow, Synophrys, Micrognathia, Large hands, Joint hypermobility, Tapered finger,... OMIM:102150
Juberg-Hayward Syndrome
Hypoplasia of the radius, Abnormal vertebral morphology, Abnormality of the wrist, Abnormal metac... ORPHA:2319
Rubinstein-Taybi Syndrome 2
Short 5th toe, Short first metatarsal, Highly arched eyebrow, Prominent fingertip pads, Hirsutism... OMIM:613684
Catel-Manzke Syndrome
Chronic otitis media, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Highly a... ORPHA:1388
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Fibular hypoplasia, Abnormal tibia morphology, Synostosis of carpal bones... ORPHA:2634
Fetal Alcohol Syndrome
Low-set, posteriorly rotated ears, Vertebral segmentation defect, Biparietal narrowing, Microceph... ORPHA:1915
Trigonocephaly 2
Trigonocephaly, Wide nasal bridge, Depressed nasal bridge OMIM:614485
Osteogenesis Imperfecta, Type X
Tibial bowing, Shallow orbits, Thoracic hypoplasia, Joint hypermobility, Broad ribs, Fibular bowi... OMIM:613848
Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies
High anterior hairline, Clinodactyly of the 5th finger, Thick nasal alae, Broad nasal tip, Thin e... OMIM:618147
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Clinodactyly of the 5th finger, Synostosis of carpal bones, Abnormality of the humerus, Abnormal ... ORPHA:1275
Jackson-Weiss Syndrome
Short first metatarsal, 2-3 toe syndactyly, Calcaneonavicular fusion, Broad proximal phalanx of t... OMIM:123150
Zechi-Ceide Syndrome
Long foot, Short metatarsal, Sandal gap, Small nail, Short distal phalanx of finger, Wide nasal b... OMIM:612916
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Butterfly vertebrae, Rhizomelia, Sandal gap, Sensorineural hearing impa... OMIM:607143
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Brachydactyly, Short 5th finger, Aplasia/Hypoplasia of the fibula, Short foo... ORPHA:52056
X-Linked Intellectual Disability, Cabezas Type
Macrocephaly, Clinodactyly of the 5th finger, Abnormal earlobe morphology, Sandal gap, Scoliosis,... ORPHA:85293
Alagille Syndrome
Hypoplasia of the ulna, Long nose, Protruding ear, Clinodactyly of the 5th finger, Butterfly vert... ORPHA:52
Mietens Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Short nose, Clinoda... ORPHA:2557
Talo-Patello-Scaphoid Osteolysis
Short 4th metacarpal, Synovitis, Osteolysis of patellae, Osteolysis of talus, Osteolysis of scaph... ORPHA:50809
Metacarpal 4-5 Fusion
2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Clinodactyly of the 5th finger, Short 5t... OMIM:309630
Opsismodysplasia
Short long bone, Flat acetabular roof, Short metacarpal, Hypoplastic ischia, Shallow orbits, Hypo... OMIM:258480
Shashi-Pena Syndrome
Deep palmar crease, Cervical C2/C3 vertebral fusion, Limb hypertonia, Highly arched eyebrow, Scol... OMIM:617190
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Sacral dimple, Abnormal vertebral morphology, Proximal placement of thumb, Abnormality of the ver... OMIM:314390
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii
Short 4th metacarpal, Type E brachydactyly, Short metatarsal OMIM:113301
Brachydactyly-Nystagmus-Cerebellar Ataxia
Short metacarpal, Short metatarsal, Brachydactyly OMIM:113400
Larsen Syndrome
Multiple carpal ossification centers, Spondylolysis, Pectus carinatum, Knee dislocation, Short me... OMIM:150250
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Kyphoscoliosis, Small nail, Microtia, Joint stiffness, Clinodactyly, Medial flaring of the eyebro... OMIM:620494
Thrombocytopenia-Absent Radius Syndrome
Sensorineural hearing impairment, Broad thumb, Aplasia/hypoplasia of the humerus, Cervical ribs, ... ORPHA:3320
Acrootoocular Syndrome
Kyphoscoliosis, Abnormal earlobe morphology, Sandal gap, Hyperpigmented nevi, Abnormality of faci... ORPHA:2980
Codas Syndrome
Generalized joint hypermobility, Genu valgum, Proximal placement of thumb, Sensorineural hearing ... OMIM:600373
Ulnar Hypoplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Radial dysplasia, Mesomelic arm shortening, Dis... OMIM:191440
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Spindle-shaped finger, Genu valgum, Abnormal vertebral morphology, Delayed epiphyseal ossificatio... ORPHA:166024
Pitt-Hopkins Syndrome
Narrow foot, Clubbing, Prominent fingertip pads, Hyperconvex nail, Overlapping toe, Thickened hel... OMIM:610954
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Cone-shaped epiphyses of the phalanges of the hand, Short ribs, T... OMIM:266920
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification
Clinodactyly of the 5th finger, Broad middle phalanx of finger, Delayed epiphyseal ossification, ... OMIM:182255
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Retrognathia, Bowed humerus, Short clavicles, Hypoplastic pelvis, Absent thumb, Hypoplastic scapulae OMIM:618022
Desbuquois Syndrome
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal femoral neck/head morpho... ORPHA:1425
Acro-Renal-Ocular Syndrome
Sandal gap, Sensorineural hearing impairment, Short humerus, Hypoplasia of the ulna, Preaxial han... ORPHA:959
Brachydactyly Type B
Finger syndactyly, Short metacarpal, Synostosis of carpal bones, Absent fingernail, 2nd-5th toe m... ORPHA:93383
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Spinal rigidity, Abnormal vertebral morphology, Clinoda... ORPHA:337
Rhizomelic Syndrome, Urbach Type
Rhizomelia, Triphalangeal thumb, Abnormal form of the vertebral bodies, Abnormality of the elbow,... ORPHA:3098
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal metaphysis morphology, Short nose, Reduced bone mineral density, Clinodactyly of the 5th... ORPHA:2370
Congenital Heart Defects And Ectodermal Dysplasia
Brachycephaly, High anterior hairline, Medial flaring of the eyebrow, 2-3 toe cutaneous syndactyl... OMIM:617364
Acromesomelic Dysplasia 2B
Fibular aplasia, Fibular hypoplasia, Deformed tarsal bones, Rhizomelia, Short metatarsal, Small n... OMIM:228900
Non-Syndromic Bicoronal Craniosynostosis
Brachycephaly, Metacarpal synostosis, Brachydactyly ORPHA:35099
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Kyphoscoliosis, Delayed pubic bone ossification, Proximal placement of thumb, Hypoplastic iliac w... OMIM:613330
Holt-Oram Syndrome
Aplasia of the pectoralis major muscle, Proximal placement of thumb, Cervical C2/C3 vertebral fus... OMIM:142900
Pseudohypoparathyroidism, Type Ia
Short finger, Short metatarsal, Short metacarpal, Osteoporosis, Subcutaneous ossification, Short ... OMIM:103580
Acromesomelic Dysplasia 3
Hypoplasia of the ulna, Fibular aplasia, Short finger, Radial deviation of finger, Tarsal synosto... OMIM:609441
Brachydactyly, Type E2
Short metacarpal, Short metatarsal, Brachydactyly OMIM:613382
Acrofacial Dysostosis, Palagonia Type
Short 4th metacarpal, Spina bifida occulta, Abnormal form of the vertebral bodies, Finger syndact... ORPHA:1787
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Short long bone, Femoral bowing, Hyperlordosis, Kyphosis, Thoracic hypoplasia, Metaphyseal irregu... OMIM:618019
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Barrel-shaped chest, Increased bone mineral density, Sensorineural hearing impairment... OMIM:239000
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/hypoplasia of the femur, Hypoplastic iliac wing, Femoral bowing, Hypoplastic pelvis, Apla... OMIM:228930
Frontometaphyseal Dysplasia 2
Dislocated radial head, Sensorineural hearing impairment, Abnormal pinna morphology, Short metaca... OMIM:617137
Brachydactyly, Type E1
Type E brachydactyly, Short metatarsal, Straight clavicles, Short clavicles, Short metacarpal, Br... OMIM:113300
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Supernumerary ribs, Absent thumb, Aplasia/Hypoplasia ... OMIM:612447
Ring Chromosome 4 Syndrome
Abnormality of the upper limb, Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the... ORPHA:1447
Spondyloepimetaphyseal Dysplasia, X-Linked
Cone-shaped epiphyses of the phalanges of the hand, Pectus carinatum, Delayed ossification of car... OMIM:300106
Spondylometaphyseal Dysplasia, Pagnamenta Type
Short 4th metacarpal, Rhizomelia, Femoral bowing, Thoracic kyphosis, Broad thumb, Platyspondyly, ... OMIM:619638
Tetrasomy X
Premature ovarian insufficiency, Clinodactyly of the 5th finger, Brachydactyly, Radioulnar synost... ORPHA:9
Paget Disease Of Bone 2, Early-Onset
Vertebral compression fracture, Sandwich appearance of vertebral bodies, Osteosclerosis of the ul... OMIM:602080
Shox-Related Short Stature
Ulnar radial head dislocation, Genu valgum, Cubitus valgus, Madelung deformity, Skeletal muscle h... ORPHA:314795
Brachydactyly-Arterial Hypertension Syndrome
Short phalanx of finger, Short metacarpal, Brachydactyly ORPHA:1276
Eiken Syndrome
Abnormal bone ossification, High iliac wing, Absence of the sacrum, Metaphyseal irregularity, Fib... ORPHA:79106
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Kyphoscoliosis, Broad distal phalanx of finger, Dislocated radial head, Short long bone, Large il... OMIM:271640
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Preaxial polydactyly, Scoliosi... OMIM:613091
Linear Verrucous Nevus Syndrome
Reduced bone mineral density, Talipes, Genu recurvatum, Scoliosis, Short metacarpal, Sparse scalp... ORPHA:2611
Spondylocarpotarsal Synostosis Syndrome
Mixed hearing impairment, Pectus carinatum, Sensorineural hearing impairment, Hyperlordosis, Shor... OMIM:272460
Melnick-Needles Syndrome
Cone-shaped epiphyses of the phalanges of the hand, Proptosis, Short distal phalanx of finger, Jo... ORPHA:2484
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, 2-3 toe cutaneous syndactyly, Postaxial hand polydactyly, Postaxial foot ... OMIM:617642
Developmental And Epileptic Encephalopathy 95
Short 4th metacarpal, Long nose, Clinodactyly of the 5th finger, Highly arched eyebrow, Single tr... OMIM:618143
Syndactyly Type 2
Clinodactyly of the 5th finger, Abnormal metacarpal morphology, Mesoaxial polydactyly, Sandal gap... ORPHA:93403
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Finger synda... ORPHA:246
16Q24.3 Microdeletion Syndrome
Chronic otitis media, Proximal placement of thumb, Scoliosis, Kyphosis, Biparietal narrowing, Hea... ORPHA:261250
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Vertebral wedging, Flat acetabular roof, Epiphyseal dysplasia, Hypopl... OMIM:617719
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Broad femoral neck, Abnormality of the hand, Hump-shaped mound of bone in central and posterior p... ORPHA:99642
Spondyloepiphyseal Dysplasia Tarda With Characteristic Facies
Broad nasal tip, Wide nasal bridge, Flattened knee epiphyses OMIM:600093
Anauxetic Dysplasia 2
Nail dysplasia, Cubitus valgus, Small nail, Hyperlordosis, Thoracolumbar kyphoscoliosis, Cervical... OMIM:617396
Atelosteogenesis, Type Ii
Sandal gap, Bifid humerus, Short greater sciatic notch, Flat acetabular roof, Death in infancy, D... OMIM:256050
3Q29 Microduplication Syndrome
Macrocephaly, Craniosynostosis, Sandal gap, Low-set ears, Biparietal narrowing, Hearing impairmen... ORPHA:251038
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal foot morphology, Low-set ears, Pectus ... OMIM:263750
Acrofacial Dysostosis, Rodríguez Type
Fibular hypoplasia, Abnormal form of the vertebral bodies, Finger syndactyly, Microtia, Abnormal ... ORPHA:1788
Mesomelia-Synostoses Syndrome
Narrow foot, Partial fusion of proximal row of carpal bones, Tibial bowing, Mesomelia, Ulnar devi... OMIM:600383
Hand-Foot-Genital Syndrome
Sacral dimple, Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsa... ORPHA:2438
Odontotrichoungual-Digital-Palmar Syndrome
Nail dysplasia, Nail dystrophy, Short first metatarsal, Single transverse palmar crease, Abnormal... OMIM:601957
Ulnar Hypoplasia-Split Foot Syndrome
Split foot, Split hand, Aplasia/Hypoplasia of the radius, Hypoplasia of the ulna ORPHA:1122
Fetal Akinesia Deformation Sequence 4
Rocker bottom foot, 11 pairs of ribs, Low-set ears, Kyphosis, Camptodactyly, Prenatal death, Micr... OMIM:618393
Brachyolmia Type 1, Hobaek Type
Short iliac bones, Squared-off platyspondyly, Lumbar hypolordosis, Osteopenia, Platyspondyly, Int... OMIM:271530
Intellectual Disability, Wolff Type
Clinodactyly of the 5th finger, Abnormality of the nail, Scoliosis, Limitation of joint mobility,... ORPHA:3080
Spondyloepimetaphyseal Dysplasia, Missouri Type
Limited elbow extension, Rhizomelia, Platyspondyly, Small epiphyses, Ulnar bowing, Metaphyseal cu... OMIM:602111
Acrorenal Syndrome
Abnormal tibia morphology, Split hand, Micrognathia, Abnormal morphology of ulna, Aplasia/Hypopla... ORPHA:971
Thrombocytopenia-Absent Radius Syndrome
Femoral bowing, Death in infancy, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hy... OMIM:274000
W Syndrome
Hypoplasia of the ulna, Pes cavus, Cubitus valgus, Camptodactyly, Metatarsus adductus, Hypertelor... ORPHA:2804
Fibular Aplasia-Ectrodactyly Syndrome
Abnormal morphology of ulna, Split hand, Aplasia/Hypoplasia of the fibula ORPHA:1118
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Narrow greater sciatic notch, Short long bone, Short metacarpal, Cupped ribs, Metaphyseal irregul... ORPHA:85167
Monosomy 5P
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormality of bone mineral density, Scolio... ORPHA:281
Spondyloepiphyseal Dysplasia Tarda
Kyphoscoliosis, Limited elbow movement, Spurred metaphyses of the upper limbs, Enlarged metaphyse... ORPHA:93284
8P23.1 Microdeletion Syndrome
Proximal placement of thumb, Abnormal pinna morphology, Enlarged thorax, Low-set ears, Biparietal... ORPHA:251071
Fibular Aplasia-Complex Brachydactyly Syndrome
Bilateral single transverse palmar creases, Abnormal thumb morphology, Tarsal synostosis, Abnorma... ORPHA:2639
Coffin-Lowry Syndrome
Abnormal form of the vertebral bodies, Hyperconvex fingernails, Pectus carinatum, Sensorineural h... ORPHA:192
Hydrocephalus-Obesity-Hypogonadism Syndrome
Short 4th metacarpal, Cubitus valgus, Azoospermia, Low posterior hairline, Hypergonadotropic hypo... ORPHA:2183
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Anteverted nares, 2-3 toe syndactyly, Horizontal eyebrow, Clinodactyly, Wide nasal bridge OMIM:619311
Catel-Manzke Syndrome
Pectus carinatum, Proptosis, Short metacarpal, Pectus excavatum, Ulnar deviation of the 2nd finge... OMIM:616145
Multiple Epiphyseal Dysplasia, Beighton Type
Lumbar platyspondyly, Abnormal hand metaphysis morphology, Biconcave vertebral bodies, Joint stif... ORPHA:166011
Grant Syndrome
Brachycephaly, Narrow chest, Abnormal pelvic girdle bone morphology, Bowing of the long bones, Ab... ORPHA:2097
Non-Distal Duplication 10Q
Brachycephaly, Short nose, Pectus excavatum, Frontal bossing, Micrognathia, Convex nasal ridge, D... ORPHA:1695
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Scoliosis, Low-set ears, Biparietal narrowing, Kyphosis, Microcephaly ORPHA:261190
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Patellar hypoplasia, Sensorineural hearing impairment, Short fourth metatarsal, Brachydactyly, Sh... ORPHA:464288
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Clinodactyly of the 5th finger, Finger syndactyly, Sensorineural hearing impairment, Radioulnar s... ORPHA:71289
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Protruding ear, Scoliosis, Microcephaly, Biparietal narrowing ORPHA:2518
Diastrophic Dysplasia
Proximal placement of thumb, Abnormal form of the vertebral bodies, Kyphosis, Joint stiffness, Sy... ORPHA:628
Occipital Horn Syndrome
Limited elbow extension, Coarse hair, Genu valgum, Narrow chest, Short clavicles, Pectus carinatu... OMIM:304150
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Hirsutism, Kyphosis, Hypertelorism, Hip dislocation, Short foot, Talipes equinovarus, ... OMIM:300434
2Q31.1 Microdeletion Syndrome
Sandal gap, Proptosis, Kyphosis, Abnormal fibula morphology, Abnormal tibia morphology, Abnormal ... ORPHA:251014
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Microtia, Bifid first metacarpal, Femoral bowing, Short metacarpal, Proptosi... OMIM:210710
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Femoral-Facial Syndrome
Aplasia/hypoplasia of the femur, Limited elbow movement, Short humerus, Syndactyly, Absent verteb... OMIM:134780
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Restricted large joint movement, Abnormal vertebral morphology, Abnormal ilium morphology, Bilate... ORPHA:163665
Baller-Gerold Syndrome
Limited elbow movement, Mixed hearing impairment, Carpal bone aplasia, Oligodactyly, Short humeru... OMIM:218600
Chromosome 2Q37 Deletion Syndrome
Type E brachydactyly, Highly arched eyebrow, Sensorineural hearing impairment, Short metacarpal, ... OMIM:600430
Ulnar-Mammary Syndrome
Aplasia of the 4th metacarpal, Stiff elbow, Short humerus, Sparse axillary hair, Absent radius, A... OMIM:181450
Blomstrand Lethal Chondrodysplasia
Short nose, Rhizomelia, Platyspondyly, Narrow chest, Flared metaphysis, Metaphyseal cupping, Broa... ORPHA:50945
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Anterior encephalocele, Scoliosis, Amelia, Low-set ears, Foot oligodactyly, Short femur OMIM:601357
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Short nose, Anteverted nares, Long eyelashes, Micrognathia, Wide na... OMIM:618577
Tibial Aplasia-Ectrodactyly Syndrome
Abnormal fibula morphology, Fibular hypoplasia, Abnormal femur morphology, Finger syndactyly, Fem... ORPHA:3329
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Short nose, Clinodactyly of the 5th finger, Spondylolisthesis, Sandal gap, Spina bifi... OMIM:617877
Spondylometaphyseal Dysplasia, X-Linked
Short finger, Abnormality of the nail, Hyperextensibility of the finger joints, Pectus carinatum,... OMIM:313420
Pseudohypoparathyroidism, Type Ic
Short metatarsal, Short metacarpal, Osteoporosis, Brachydactyly, Hypogonadism, Short neck OMIM:612462
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Hip subluxation, Bilateral camptodactyly, Scoliosis, Prominent fingertip pads, Absent earlobe, Ky... OMIM:619557
Acheiropody
Fibular aplasia, Aplasia of the ulna, Aplasia of the tarsal bones, Carpal bone aplasia, Absent to... OMIM:200500
Moebius Syndrome
Radial deviation of finger, Abnormal pinna morphology, Facial diplegia, Syndactyly, Aplasia/Hypop... OMIM:157900
Split-Hand/Foot Malformation 2
Finger syndactyly, Split hand, Short metacarpal, Split foot, Short phalanx of finger OMIM:313350
Split-Hand/Foot Malformation 4
Aplasia/Hypoplasia of metatarsal bones, Triphalangeal thumb, Aplasia/Hypoplasia of the phalanges ... OMIM:605289
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Low-set, posteriorly rotated ears, Microtia, Biparietal narrowing, Atresia of the external audito... ORPHA:1770
Non-Distal Deletion 10Q
Brachydactyly, Clinodactyly of the 5th finger, Overlapping fingers, Biparietal narrowing ORPHA:1581
Adenylosuccinate Lyase Deficiency
Brachycephaly, Short nose, Flat occiput, Anteverted nares ORPHA:46
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Narrow greater sciatic notch, Femoral bowing, Short long bone, Short metacarpal, Tibial bowing, C... OMIM:608940
Pelger-Huet Anomaly
Polydactyly, Short 4th metacarpal, Pes cavus, Recurrent otitis media, Upper limb undergrowth, Kyp... OMIM:169400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Hypoplasia of the ulna, Osteopenia, Short nose, Lambdoidal craniosynostosis, Scoliosis, Low-set e... OMIM:615398
Spondylometaphyseal Dysplasia, Sedaghatian Type
Narrow greater sciatic notch, Cone-shaped epiphyses of the phalanges of the hand, Short long bone... OMIM:250220
Prader-Willi Syndrome Due To Imprinting Mutation
Abnormal ulnar metaphysis morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Nar... ORPHA:177910
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Narrow greater sciatic notch, Mesomelic arm shortening, Cone-shaped epiphyses of the phalanges of... OMIM:609616
Intellectual Developmental Disorder, Autosomal Dominant 23
Brachycephaly, Broad distal phalanx of finger, Sandal gap, Anteverted nares, Synophrys, Postaxial... OMIM:615761
Cranioectodermal Dysplasia 1
Radial deviation of finger, Short ribs, Pectus excavatum, Short humerus, Sparse hair, Short dista... OMIM:218330
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Beaking of vertebral bodies, Short nose, Death in childhood, Lumbar platyspondyly, Narrow chest, ... OMIM:618961
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Genu valgum, Cubitus valgus, Metaphyseal striations, Sensorineural hearing impairment... OMIM:608154
Ghosal Hematodiaphyseal Dysplasia
Abnormal metaphysis morphology, Diaphyseal undertubulation, Abnormal femur morphology, Abnormal t... ORPHA:1802
Summitt Syndrome
Short 4th metacarpal, Genu valgum, Clinodactyly of the 5th finger, Finger syndactyly, Short palm,... ORPHA:3210
Joubert Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Low-set ears, Biparietal narrowing, Foot polyda... ORPHA:475
Aase-Smith Syndrome
Abnormal hip bone morphology, Scoliosis, Abnormal pinna morphology, Slender finger, Joint stiffne... ORPHA:916
Metatropic Dysplasia
Narrow greater sciatic notch, Kyphoscoliosis, Relatively short spine, Short ribs, Flat acetabular... OMIM:156530
Humero-Radio-Ulnar Synostosis
Abnormal thumb morphology, Abnormal metacarpal morphology, Aplasia/Hypoplasia of the thumb, Upper... ORPHA:3266
1Q44 Microdeletion Syndrome
Scoliosis, Biparietal narrowing, Microcephaly, Frontal bossing, Micrognathia ORPHA:238769
Epiphyseal Dysplasia, Multiple, 6
Flat distal femoral epiphysis, Irregular epiphyses, Flat capital femoral epiphysis, Small epiphys... OMIM:614135
Cornelia De Lange Syndrome 5
Postnatal growth retardation, Brachycephaly, Clinodactyly of the 5th finger, Proximal placement o... OMIM:300882
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Convex nasal ridge, Underdeveloped nasal alae, Wide nasal bridge, Cleft ala nasi ORPHA:2007
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Short distal phalanx of toe, Biparietal narrowing,... ORPHA:1292
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Abnormal cartilage matrix, Narrow chest, Flared metaphysis, Wide ant... ORPHA:2347
Weaver Syndrome
Sandal gap, Broad thumb, Joint stiffness, Joint hypermobility, Fine hair, Low-set, posteriorly ro... ORPHA:3447
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metaphysis morphology, Abnormal hip bone morphology, Abnormal metacarpal morphology, Low... ORPHA:2631
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Flat capital femoral epiphysis, Patellar hypoplasia, Sandal gap, Abnormality o... OMIM:147891
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Multiple Osteochondromas
Abnormal femur morphology, Limitation of knee mobility, Cervical myelopathy, Abnormal lower limb ... ORPHA:321
2Q37 Microdeletion Syndrome
Bilateral single transverse palmar creases, Congenital diaphragmatic hernia, Clinodactyly of the ... ORPHA:1001
C Syndrome
Short nose, Radial deviation of finger, Dislocated radial head, Scoliosis, Postaxial hand polydac... OMIM:211750
Yunis-Varon Syndrome
Bilateral single transverse palmar creases, Absent sternal ossification, Small earlobe, Microtia,... OMIM:216340
Steinfeld Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal vertebral morphology, Aplasia/Hypoplas... OMIM:184705
Mosaic Trisomy 9
Rocker bottom foot, Prominent occiput, Scoliosis, Hemivertebrae, Low-set ears, Biparietal narrowi... ORPHA:99776
Acheiropodia
Abnormal metaphysis morphology, Fibular aplasia, Aplasia of the ulna, Absent radius, Absent hand,... ORPHA:931
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal metaphysis morphology, Abnormal clavicle morphology, Rhizomelia, Proximal placement of t... ORPHA:93267
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Poland Syndrome
Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Reduced bone mineral den... ORPHA:2911
Joubert Syndrome With Ocular Defect
Abnormal vertebral morphology, Low-set, posteriorly rotated ears, Scoliosis, Biparietal narrowing... ORPHA:220493
Holzgreve Syndrome
Abnormal metacarpal morphology, Low-set, posteriorly rotated ears, Abnormally ossified vertebrae,... ORPHA:2167
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Narrow greater sciatic notch, Limited elbow movement, Long nose, Enlarged metaphyses, Proptosis, ... ORPHA:508533
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Abnormal bone ossification, Flat acetabular roof, Wide proximal femoral metaphysis, Flattened epi... ORPHA:163649
Nicolaides-Baraitser Syndrome
Broad distal phalanx of finger, Sandal gap, Broad 2nd toe, Short metacarpal, Low posterior hairli... OMIM:601358
2Q32Q33 Microdeletion Syndrome
Brachycephaly, Convex nasal ridge, Clinodactyly of the 5th finger, Anteverted nares, Broad thumb,... ORPHA:251019
Multiple Epiphyseal Dysplasia, Lowry Type
Fibular hypoplasia, Genu valgum, Rhizomelia, Fixed elbow flexion, Small epiphyses, Delayed epiphy... ORPHA:166016
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Trisomy 4P
Radial club hand, Low-set, posteriorly rotated ears, Abnormal antihelix morphology, Scoliosis, Ca... ORPHA:1738
Chondroectodermal Dysplasia With Night Blindness
Osteopenia, Equinovarus deformity, Nail dystrophy, Hyperconvex toenail, Talipes calcaneovarus, Hy... ORPHA:319195
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the ulna, Hypoplasia of the radius, Cyclopia, Hypotelorism, Aplasia/Hypoplasia of t... ORPHA:3186
Chromosome 3Pter-P25 Deletion Syndrome
Postnatal growth retardation, Brachycephaly, Low hanging columella, Highly arched eyebrow, Anteve... OMIM:613792
Otopalatodigital Syndrome Type 1
Proximal placement of thumb, Sandal gap, Abnormal metacarpal morphology, Short hallux, Increased ... ORPHA:90650
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Growth Delay Due To Insulin-Like Growth Factor I Resistance
Pectus excavatum, Short palm, Clinodactyly, Broad nasal tip, Wide nasal bridge ORPHA:73273
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Hypoplasia of the radius, Finger aplasia, Atresia of the external auditor... OMIM:614900
Craniosynostosis, Herrmann-Opitz Type
Brachycephaly, Short nose, Convex nasal ridge, Turricephaly, Finger syndactyly, Split hand, Abnor... ORPHA:2145
Gollop-Wolfgang Complex
Ectrodactyly, Hand monodactyly, Aplasia/Hypoplasia of the tibia, Bifid femur, Aplasia/Hypoplasia ... ORPHA:1986
Hypochondroplasia
Abnormal metaphysis morphology, Abnormal femur morphology, Abnormal form of the vertebral bodies,... ORPHA:429
Atelosteogenesis Type Iii
Short tubular bones of the hand, Abnormal cervical curvature, Thoracic hypoplasia, Absent radius,... ORPHA:56305
Joubert Syndrome With Oculorenal Defect
Low-set, posteriorly rotated ears, Scoliosis, Biparietal narrowing, Foot polydactyly, Hand polyda... ORPHA:2318
Distal Duplication 5Q
Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Low-set ears, Macrotia, Micrognathi... ORPHA:96097
Intellectual Developmental Disorder, Autosomal Recessive 74
Prominent nose, Dolichocephaly, Wide nasal bridge, Brachydactyly OMIM:617169
Pentasomy X
Plagiocephaly, Clinodactyly of the 5th finger, Radioulnar synostosis, Camptodactyly of finger, Mi... ORPHA:11
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the femur, Carpal bone aplasia, Aplasia/Hypoplasia of the phalanges of the ... OMIM:276820
Ring Chromosome 6 Syndrome
Low posterior hairline, Macrotia, Short distal phalanx of finger, Short neck, Hypertelorism, Wide... ORPHA:1448
Postaxial Oligodactyly, Tetramelic
Aplasia of the 5th metacarpal, Lunate-triquetral fusion, Absent fifth metatarsal, Single transver... OMIM:176240
Nivelon-Nivelon-Mabille Syndrome
Nail dysplasia, Bell-shaped thorax, Distal clavicular thinning, Narrow chest, Short metacarpal, M... OMIM:600092
Gómez-López-Hernández Syndrome
Brachycephaly, Alopecia of scalp, Turricephaly, Toenail dysplasia, Anteverted nares ORPHA:1532
Velo-Facial-Skeletal Syndrome
Abnormal thumb morphology, Clinodactyly of the 5th finger, Prominent fingertip pads, Short palm, ... ORPHA:3424
Cutis Laxa, Autosomal Recessive, Type Iie
Convex nasal ridge, Copper beaten skull, Clinodactyly of the 5th finger, Highly arched eyebrow, S... OMIM:619451
Muenke Syndrome
Brachycephaly, Plagiocephaly, Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epi... OMIM:602849
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Palmoplantar cutis gyrata, Dislocated radial head, Pectus carinatum, Proptosis, Arachnodactyly, J... OMIM:130070
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, Scapular winging, Heterochromia iridis, Sy... OMIM:148820
Potocki-Shaffer Syndrome
Brachycephaly, Parietal foramina, Depressed nasal tip, Micrognathia, Prominent nasal bridge, Broa... ORPHA:52022
Endosteal Hyperostosis, Worth Type
Diaphyseal undertubulation, Clavicular sclerosis, Sclerotic vertebral body, Craniofacial hyperost... ORPHA:2790
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Brachycephaly, Abnormal thumb morphology, Abnormal metacarpal morphology, Narrow nasal bridge, Ab... ORPHA:2511
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Hypoplasia of the ulna, Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Microtia... ORPHA:1352
Weill-Marchesani Syndrome 2
Short finger, Flexion contracture of toe, Short metatarsal, Broad phalanges of the hand, Scoliosi... OMIM:608328
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Lower limb undergrowth, Forearm undergrowth OMIM:218650
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Prominent occiput, Anteverted nares... OMIM:618672
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Postaxial hand polydactyly, Broad thumb, Frontal bossing, Toe syndactyly, Broa... ORPHA:380
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal metaphysis morphology, Osteopenia, Platyspondyly, Flat capital femoral epiphysis, Propto... ORPHA:157965
Lig4 Syndrome
Brachycephaly, Clinodactyly of the 5th finger, Biparietal narrowing, Microcephaly, Micrognathia ORPHA:99812
Kyphomelic Dysplasia
Abnormal metaphysis morphology, Lateral clavicle hook, Narrow chest, Abnormal form of the vertebr... ORPHA:1801
Progressive Pseudorheumatoid Arthropathy Of Childhood
Wrist swelling, Hyperlordosis, Generalized osteoporosis, Broad femoral neck, Abnormality of hand ... ORPHA:1159
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Narrow chest, Bowed humerus, Short long bone, Low-set ears, Short humerus, Posteriorly rotated ea... OMIM:619479
Peho Syndrome
Abnormal pinna morphology, Biparietal narrowing, Microcephaly, Macrotia, Malar flattening, Tapere... ORPHA:2836
Acrocephalopolydactyly
Short nose, Genu recurvatum, Microtia, Short long bone, Limb undergrowth, Thoracic hypoplasia, Br... ORPHA:221054
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Brachycephaly, Clinodactyly of the 5th finger, 11 pairs of ribs, Clinodactyly of the 2nd finger, ... OMIM:620073
Pfeiffer Syndrome Type 1
Brachycephaly, Short nose, Aplasia/Hypoplasia of the thumb, Bicoronal synostosis, Short hallux, F... ORPHA:93258
Distal 22Q11.2 Microduplication Syndrome
Sacral dimple, Macrocephaly, Abnormal antihelix morphology, Abnormal helix morphology, Scoliosis,... ORPHA:261337
Metaphyseal Chondrodysplasia, Schmid Type
Femoral bowing, Broad femoral neck, Abnormal proximal femoral metaphysis morphology, Distal tibia... OMIM:156500
Distal Deletion 17Q
Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormal hip bone morpholo... ORPHA:1597
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Kyphoscoliosis, Flared iliac wing, Flattened epiphysis, Broad palm, Short finger, Small epiphyses... OMIM:300232
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Underdeveloped nasal alae, Heterochromia ... OMIM:193510
Abnormal Hair, Joint Laxity, And Developmental Delay
Clinodactyly of the 5th toe, Trichorrhexis nodosa, Recurrent otitis media, Small nail, Short fift... OMIM:261990
Muenke Syndrome
Hypopigmented skin patches, Brachycephaly, Hypermelanotic macule, Plagiocephaly, Tarsal synostosi... ORPHA:53271
Joubert Syndrome With Renal Defect
Hand polydactyly, Scoliosis, Low-set, posteriorly rotated ears, Biparietal narrowing ORPHA:220497
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Reduced bone mineral density, Pectus carinatum, Delayed ossification of carpal bones, Kyphosis, M... OMIM:618392
Spondylometaphyseal Dysplasia, Algerian Type
Short tubular bones of the hand, Kyphoscoliosis, Carpal bone hypoplasia, Flared femoral metaphysi... OMIM:184253
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse hair, Sparse axillary hair, Fine ha... ORPHA:189
Microcephaly, Short Stature, And Limb Abnormalities
Hypoplasia of the radius, Clinodactyly of the 5th finger, Patellar hypoplasia, 11 pairs of ribs, ... OMIM:617604
Charlie M Syndrome
Triphalangeal thumb, Abnormal metacarpal morphology, Finger syndactyly, Split hand, Abnormal fing... ORPHA:1406
Ulbright-Hodes Syndrome
Hypoplasia of the radius, Fibular aplasia, Thin ribs, Short ribs, Abnormal pinna morphology, Shor... ORPHA:3404
Metatropic Dysplasia
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal intervertebral disk morp... ORPHA:2635
Camurati-Engelmann Disease
Abnormal femur morphology, Hyperlordosis, Proptosis, Kyphosis, Hypogonadism, Craniofacial osteosc... ORPHA:1328
Orofaciodigital Syndrome Xi
Postaxial polydactyly, Hypoplasia of the odontoid process, Bulbous nose, Wide nasal bridge OMIM:612913
Spondylometaphyseal Dysplasia, Axial
Narrow greater sciatic notch, Rhizomelia, Narrow chest, Scoliosis, Coxa vara, Anterior rib cuppin... OMIM:602271
Fibrous Dysplasia Of Bone
Abnormal femur morphology, Pathologic fracture, Osteolysis, Abnormal clavicle morphology, Rickets... ORPHA:249
Thiemann Disease
Short phalanx of finger, Broad phalanx OMIM:165700
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Lateral clavicle hook, Fibular hypoplasia, Irregular epiphyses, Early oss... OMIM:208500
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Preaxial polydactyly, Ulnar bowing, Vertebral wedging, Single transverse palmar crease, 2-3 toe s... OMIM:617866
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Pectus carinatum, Wrist flexion contracture, Umbilica... OMIM:255800
Congenital Arthrogryposis With Anterior Horn Cell Disease
Rocker bottom foot, Single transverse palmar crease, Scoliosis, Facial diplegia, Areflexia of low... OMIM:611890
Steel Syndrome
Limited elbow extension, Pes cavus, Clinodactyly of the 5th finger, Dislocated radial head, Senso... OMIM:615155
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Protruding ear, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Biparietal nar... ORPHA:2031
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Diaphyseal sclerosis, Choanal stenosis, Concave nasal ridge, Thickened... OMIM:122860
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Short long bone, Flat acetabular roof, Short ribs, Hypoplastic ischia, Dumbbell-shaped long bone,... OMIM:151210
Focal Dermal Hypoplasia
Nail dysplasia, Midclavicular aplasia, Nail dystrophy, Mixed hearing impairment, Congenital diaph... OMIM:305600
Camptodactyly Syndrome, Guadalajara Type 1
Brachycephaly, Short nose, Narrow chest, Highly arched eyebrow, Anteverted nares, Pectus carinatu... ORPHA:1327
Axial Spondylometaphyseal Dysplasia
Narrow greater sciatic notch, Hypoplastic iliac wing, Delayed ossification of carpal bones, Short... ORPHA:168549
Greig Cephalopolysyndactyly Syndrome
Nail dysplasia, Trigonocephaly, Broad thumb, Syndactyly, Craniosynostosis, Abnormal calvaria morp... OMIM:175700
Spondylodysplastic Ehlers-Danlos Syndrome
Kyphoscoliosis, Subluxation of the small joints of the hand, Abnormal femoral head morphology, Ab... ORPHA:536471
Lipodystrophy-Intellectual Disability-Deafness Syndrome
Osteopenia, Sensorineural hearing impairment, Dense metaphyseal bands, Slender long bones with na... ORPHA:50811
Aminopterin Syndrome Sine Aminopterin
Brachycephaly, Highly arched eyebrow, Frontal bossing, Arachnodactyly, Rudimentary postaxial poly... OMIM:600325
Cleidocranial Dysplasia, Recessive Form
Brachycephaly OMIM:216330
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Pectus carinatum, Kyphosis, Abnormal epiphysis morphology, Aplasia/Hypoplasia of fingers, Abnorma... ORPHA:3082
Bent Bone Dysplasia Syndrome 2
Osteopenia, Butterfly vertebrae, Ulnar bowing, Bowed humerus, Hypoplastic iliac wing, Hypoplastic... OMIM:620076
Clark-Baraitser Syndrome
Brachycephaly, Short nose, Sandal gap, Low hanging columella, Anteverted nares, Dolichocephaly, C... OMIM:617752
Cebalid Syndrome
Brachycephaly, Plagiocephaly, Short nose, Turricephaly, Highly arched eyebrow, Anteverted nares, ... OMIM:618774
Chondrodysplasia-Difference Of Sex Development Syndrome
Abnormal shoulder morphology, Narrow chest, Short metacarpal, Abnormal pelvic girdle bone morphol... ORPHA:1422
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Brachycephaly, Short nose, Turricephaly, Anteverted nares, Pectus carinatum, Bowing of the long b... ORPHA:171839
Weyers Ulnar Ray/Oligodactyly Syndrome
Hypoplasia of the radius, Proximal radial head dislocation, Hypotelorism, Proximal placement of t... OMIM:602418
Monosomy 18Q
Kyphoscoliosis, Sensorineural hearing impairment, Mandibular prognathia, Bilateral conductive hea... ORPHA:1600
Stuve-Wiedemann Syndrome 2
Stillbirth, Scoliosis, Short long bone, Bowing of the long bones, Camptodactyly, Death in adolesc... OMIM:619751
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies
Brachycephaly, Oligodactyly, Humeroradial synostosis, Arachnodactyly, Craniosynostosis OMIM:614416
Pseudohypoparathyroidism Type 1C
Short 4th metacarpal, Calcinosis, Short metatarsal, Increased bone mineral density, Short fifth m... ORPHA:79444
Fibrodysplasia Ossificans Progressiva
Abnormality of the first metatarsal bone, Clinodactyly of the 5th finger, Short hallux, Ectopic o... OMIM:135100
Hand-Foot-Genital Syndrome
Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux... OMIM:140000
Orofaciodigital Syndrome Type 6
Preaxial polydactyly, Low-set, posteriorly rotated ears, Mesoaxial polydactyly, Biparietal narrow... ORPHA:2754
Acropectorovertebral Dysplasia
Abnormal vertebral morphology, Spina bifida occulta at L5, Finger syndactyly, Synostosis of carpa... OMIM:102510
Omodysplasia 1
Limited elbow extension, Short nose, Fibular hypoplasia, Limited elbow flexion/extension, Rhizome... OMIM:258315
Brachyolmia Type 1, Toledo Type
Kyphoscoliosis, Squared-off platyspondyly, Abnormal odontoid process morphology, Precocious costo... OMIM:271630
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Clinodactyly of the 5th finger, 10 pairs of ribs, 11 pairs ... OMIM:117650
Robin Sequence With Cleft Mandible And Limb Anomalies
Mesomelic arm shortening, Proximal placement of thumb, Short metacarpal, Short 5th finger, 4-5 me... OMIM:268305
Kuskokwim Syndrome
Abnormal clavicle morphology, Talipes, Abnormal form of the vertebral bodies, Aplasia/Hypoplasia ... ORPHA:1149
Pitt-Hopkins Syndrome
Hypopigmented skin patches, Narrow foot, Pes valgus, Thickened helices, Short metatarsal, Single ... ORPHA:2896
Autosomal Recessive Omodysplasia
Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Elbow dislocat... ORPHA:93329
Cardiofaciocutaneous Syndrome
Macrocephaly, Genu valgum, Low-set, posteriorly rotated ears, Scoliosis, Pectus excavatum, Bipari... ORPHA:1340
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Kyphoscoliosis, Short long bone, Hyperlordosis, Flattened epiphysis, Thoracic hypoplasia, Joint h... OMIM:618363
Rothmund-Thomson Syndrome
Nail dysplasia, Reduced bone mineral density, Small nail, Hypopigmentation of the skin, Sparse ha... ORPHA:2909
Intellectual Developmental Disorder, Autosomal Dominant 26
Brachycephaly, Clinodactyly of the 5th finger, Highly arched eyebrow, Anteverted nares, Prominent... OMIM:615834
Lathosterolosis