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Gene: Adamts17 MGI:3588195

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

ADAM metallopeptidase with thrombospondin type 1 motif 17

Synonyms:

AU023434

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Adamts17 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Adamts17 (1 diseases)
Human diseases predicted to be associated with Adamts17 (907 diseases)

The table below shows human diseases associated to Adamts17 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Weill-Marchesani Syndrome 4		Brachydactyly	OMIM:613195

The table below shows human diseases predicted to be associated to Adamts17 by phenotypic similarity.

Disease	Matching phenotypes	Source
Brachydactyly, Type C	Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco...	OMIM:113100
Brachydactyly, Type A1	Flattened metatarsal heads, Short metacarpal, Brachydactyly, Proportionate shortening of all digi...	OMIM:112500
Metaphyseal Dysplasia Without Hypotrichosis	Metaphyseal dysplasia, Short metacarpal, Abnormal hair morphology, Cone-shaped epiphyses of the p...	OMIM:250460
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Brachydactyly, Type A1, D	Short proximal phalanx of thumb, Short proximal phalanx of finger, Short middle phalanx of the 5t...	OMIM:616849
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Brachydactyly, Type A1, B	Type A brachydactyly, Cone-shaped epiphyses of the phalanges of the hand, Short middle phalanx of...	OMIM:607004
Pseudoachondroplasia	Delayed epiphyseal ossification, Metaphyseal widening, Abnormal form of the vertebral bodies, Inc...	ORPHA:750
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,...	OMIM:118651
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short...	OMIM:607778
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Microcephaly, Decreased body weight, Sparse hair, Broad phala...	OMIM:618724
Wahab Syndrome	Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A...	OMIM:615170
Symphalangism With Multiple Anomalies Of Hands And Feet	Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab...	ORPHA:3246
Epiphyseal Dysplasia, Multiple, 1	Epiphyseal dysplasia, Short metacarpal, Pes planus, Ovoid vertebral bodies, Avascular necrosis of...	OMIM:132400
Brachydactyly, Type A3	Type A brachydactyly, Rhomboid or triangular shaped 5th finger middle phalanx, Cone-shaped epiphy...	OMIM:112700
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,...	OMIM:112910
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Failure to thrive	OMIM:600121
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac...	OMIM:611263
Sugarman Brachydactyly	Short proximal phalanx of finger, Double first metacarpals, Symphalangism affecting the proximal ...	OMIM:272150
Brachydactyly, Type A1, C	Brachydactyly, Short middle phalanx of the 2nd finger, Short middle phalanx of the 3rd finger, Bi...	OMIM:615072
Acromicric Dysplasia	Short metacarpal, Ovoid vertebral bodies, Cone-shaped epiphysis, Short foot, Short long bone, Lon...	OMIM:102370
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy...	OMIM:607078
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ...	ORPHA:2831
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Cleidorhizomelic Syndrome	Brachydactyly, Rhizomelia, Diaphyseal thickening, Clinodactyly of the 5th finger, Short middle ph...	ORPHA:1453
Familial Digital Arthropathy-Brachydactyly	Osteoarthritis of the small joints of the hand, Brachydactyly, Shortening of all distal phalanges...	ORPHA:85169
Digital Arthropathy-Brachydactyly, Familial	Brachytelomesophalangy, Short middle phalanx of finger, Radial deviation of finger, Short distal ...	OMIM:606835
Hypertension And Brachydactyly Syndrome	Cone-shaped epiphysis, Short metacarpal, Short phalanx of finger, Type E brachydactyly	OMIM:112410
Epiphyseal Dysplasia, Multiple, 3	Epiphyseal dysplasia, Short metacarpal, Abnormal hip joint morphology, Elevated circulating creat...	OMIM:600969
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Brachydactyly, Type A4	Type A brachydactyly, Short middle phalanx of the 2nd finger, Talipes calcaneovalgus, Congenital ...	OMIM:112800
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome	Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Overweight, Tr...	ORPHA:370010
Pseudoachondroplasia	Genu recurvatum, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epi...	OMIM:177170
Leri-Weill Dyschondrosteosis	Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma...	OMIM:127300
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Microcephaly, Coxa ...	OMIM:616716
Brachydactyly, Type A2, With Microcephaly	Microcephaly, Clinodactyly of the 2nd toe, Absent middle phalanx of 2nd finger, Thumbs hypoplasti...	OMIM:211369
Brachydactyly Type E	Short metacarpal, Aplasia/Hypoplasia of the distal phalanx of the hallux, Short metatarsal, Upper...	ORPHA:93387
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Brachydactyly, Lumbar hyperlordosis, Broad hallux, Overlapping toe, Short hallux, Triangular shap...	OMIM:618167
Acromicric Dysplasia	Abnormal eyebrow morphology, Short metacarpal, Ovoid vertebral bodies, Small hand, Abnormal femur...	ORPHA:969
Brachydactyly Type B	Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas...	ORPHA:93383
Thiemann Disease, Familial Form	Abnormal metaphysis morphology, Abnormal epiphysis morphology, Brachydactyly	ORPHA:3314
Odontochondrodysplasia 1	Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Genu varum, Short met...	OMIM:184260
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Irregular vertebral endplat...	OMIM:271700
Skeletal Dysplasia With Delayed Epiphyseal And Carpal Bone Ossification	Delayed epiphyseal ossification, Cone-shaped epiphysis, Short middle phalanx of finger, Delayed o...	OMIM:182255
Thiemann Disease	Broad phalanx, Short phalanx of finger	OMIM:165700
Brachydactyly-Arterial Hypertension Syndrome	Short metacarpal, Short phalanx of finger, Brachydactyly	ORPHA:1276
Brachydactyly Type A7	Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala...	ORPHA:93397
Ruvalcaba Syndrome	Short metacarpal, Inguinal hernia, Micromelia, Microcephaly, Kyphosis, Limited elbow extension, S...	OMIM:180870
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Lumbar hyperlordosis, Capitate-hamat...	OMIM:271650
Acromesomelic Dysplasia, Hunter-Thompson Type	Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short...	ORPHA:968
Brachydactyly, Type D	Broad distal phalanx of the thumb, Broad distal phalanx of the hallux, Type D brachydactyly	OMIM:113200
Metacarpal 4-5 Fusion	Clinodactyly of the 5th finger, 2-3 toe cutaneous syndactyly, 4-5 metacarpal synostosis, Short 5t...	OMIM:309630
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Coloboma Of Macula-Brachydactyly Type B Syndrome	Type B brachydactyly, Broad thumb, Camptodactyly of finger, Short distal phalanx of finger	ORPHA:1471
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Gombo Syndrome	Clinodactyly, Microcephaly, Radial deviation of finger, Brachydactyly	OMIM:233270
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, B...	OMIM:609052
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Metaphyseal widening, Coxa vara, Tibial bow...	OMIM:608940
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, Abnormality of t...	ORPHA:2491
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Abnormality of the knee, Brachydactyly, Rhizomelia, Acne, Micrognathia, A...	ORPHA:3098
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fusion, Short toe...	OMIM:614078
Smith-Mccort Dysplasia 2	Pes planus, Short metacarpal, Enlarged interphalangeal joints, Broad femoral neck, Short neck, Br...	OMIM:615222
Multiple Synostoses Syndrome	Brachydactyly, Symphalangism affecting the phalanges of the hand, Cone-shaped epiphysis, Short pa...	ORPHA:3237
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome	Abnormal thumb morphology, Obesity, Type A brachydactyly, Abnormal metacarpal morphology	ORPHA:1078
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micromelia, Abnormality of the hume...	ORPHA:1350
Split-Hand/Foot Malformation 2	Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger	OMIM:313350
Brachydactyly-Preaxial Hallux Varus Syndrome	Short metacarpal, Micrognathia, Preaxial hand polydactyly, Radial club hand, Synophrys, Short met...	ORPHA:1278
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Pes planus, Short metacarpal, Camptodactyly of finger, Kyphoscoliosis, Tapered finger, Thenar mus...	OMIM:612350
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Brachydactyly Type C	Stippling of the epiphysis of the distal phalanx of the thumb, Short metatarsal, Symphalangism af...	ORPHA:93384
Acromesomelic Dysplasia, Maroteaux Type	Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v...	ORPHA:40
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Multiple small vertebral fractures...	OMIM:156510
Syndactyly Type 2	Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff...	ORPHA:93403
Exostoses, Multiple, Type Ii	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133701
Exostoses, Multiple, Type I	Short metacarpal, Pelvic bone exostoses, Protuberances at ends of long bones, Coxa vara, Genu val...	OMIM:133700
Eiken Syndrome	Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m...	ORPHA:79106
Atelosteogenesis, Type I	Micrognathia, Short neck, Short metatarsal, Tibial bowing, Knee dislocation, Neonatal death, Vert...	OMIM:108720
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the...	ORPHA:429
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Abnormal vertebral morphol...	OMIM:142900
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi...	OMIM:249700
Multiple Epiphyseal Dysplasia Type 4	Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract...	ORPHA:93307
Brachydactyly, Type A2	Hallux valgus, Triangular shaped middle phalanx of the 2nd finger, Broad hallux, Short hallux, Ul...	OMIM:112600
Spondyloepimetaphyseal Dysplasia, Irapa Type	Pes planus, Short metacarpal, Micromelia, Abnormal carpal morphology, Short metatarsal, Coxa vara...	ORPHA:93351
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Elbow dislocation, Absent radius, Ulnar bowing, S...	OMIM:171480
Smith-Mccort Dysplasia 1	Short metacarpal, Multicentric femoral head ossification, Iliac crest serration, Hypoplastic scap...	OMIM:607326
Acromegaloid Facial Appearance Syndrome	Highly arched eyebrow, Micrognathia, Tapered finger, Large for gestational age, Synophrys, Large ...	OMIM:102150
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of patellae	OMIM:609655
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Osteolysis of scaphoids, Short 4th metacarpal, Osteolysis of patellae	ORPHA:50809
Acromesomelic Dysplasia 1	Short metatarsal, Short phalanx of finger, Long hallux, Broad metacarpals, Short metacarpal, Radi...	OMIM:602875
Multiple Epiphyseal Dysplasia, Beighton Type	Thoracic scoliosis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip joint morphology...	ORPHA:166011
Cono-Spondylar Dysplasia	Epiphyseal dysplasia, Short humerus, Short nail, Short neck, Kyphosis, Cone-shaped epiphyses of t...	ORPHA:420794
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Pes planus, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Enlarged epiphyses of...	OMIM:609616
Diastrophic Dysplasia	Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios...	OMIM:222600
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Ma...	OMIM:601356
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes	Acne, Kyphoscoliosis, Bowing of the legs, Irregular vertebral endplates, Platyspondyly, Lumbar sc...	OMIM:612847
Hypochondroplasia	Brachydactyly, Widened interpedicular distance, Lumbar hyperlordosis, Aplasia/hypoplasia of the e...	OMIM:146000
Brachyolmia Type 1, Hobaek Type	Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ...	OMIM:271530
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Summitt Syndrome	Finger syndactyly, Camptodactyly of finger, Obesity, Genu valgum, Macrocephaly, Short palm, Clino...	ORPHA:3210
Rhizomelic Chondrodysplasia Punctata, Type 2	Short humerus, Inguinal hernia, Rhizomelia, Micrognathia, Microcephaly, Flexion contracture, Epip...	OMIM:222765
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humeru...	ORPHA:2141
Dyggve-Melchior-Clausen Disease	Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo...	OMIM:223800
Trichorhinophalangeal Syndrome, Type Iii	Short metacarpal, Avascular necrosis of the capital femoral epiphysis, Short metatarsal, Short fo...	OMIM:190351
Sillence Syndrome	Back pain, Large iliac wing, Abnormal vertebral morphology, Large tarsal bones, Flat acetabular r...	ORPHA:3168
Anauxetic Dysplasia 3	Beaking of vertebral bodies, Sparse scalp hair, Short metacarpal, Broad eyebrow, Thoracolumbar ky...	OMIM:618853
Anauxetic Dysplasia 2	Relative macrocephaly, Metaphyseal dysplasia, Hypoplasia of the femoral head, Thoracolumbar kypho...	OMIM:617396
Feingold Syndrome Type 2	Toe syndactyly, Microcephaly, Short thumb, Short middle phalanx of finger, Brachydactyly	ORPHA:391646
Paternal Uniparental Disomy Of Chromosome X	Cubitus valgus, Short metacarpal, Short neck, Low posterior hairline	ORPHA:261524
Acromesomelic Dysplasia 2B	Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m...	OMIM:228900
Brachydactyly-Syndactyly Syndrome	Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,...	OMIM:610713
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,...	ORPHA:93314
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Wide anterior f...	OMIM:201170
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn...	ORPHA:75508
Chst3-Related Skeletal Dysplasia	Short metacarpal, Rhizomelia, Highly arched eyebrow, Kyphoscoliosis, Sparse eyebrow, Abnormality ...	ORPHA:263463
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Narrow greater sciatic ...	OMIM:156530
Chromosome 8Q22.1 Duplication Syndrome	Hallux valgus, Short metacarpal, Enlarged interphalangeal joints, Genu recurvatum, Interphalangea...	OMIM:151200
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Mi...	OMIM:602471
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Acromesomelic Dysplasia 4	Thoracic scoliosis, Synophrys, Short metatarsal, Short phalanx of finger, Generalized hirsutism, ...	OMIM:619636
Roifman Syndrome	Hip contracture, Short metacarpal, Biconvex vertebral bodies, Single transverse palmar crease, Ec...	OMIM:616651
Arthrogryposis, Distal, Type 2B2	Ulnar deviation of the wrist, Broad hallux, Sandal gap, Tapered finger, Metatarsus adductus, Tali...	OMIM:618435
Liebenberg Syndrome	Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl...	OMIM:186550
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type	Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Ir...	OMIM:618728
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl...	ORPHA:93320
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra...	OMIM:611717
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d...	ORPHA:1275
Spondyloepiphyseal Dysplasia, Kondo-Fu Type	Inguinal hernia, Small for gestational age, Kyphosis, Delayed ossification of carpal bones, Short...	OMIM:618392
Split-Hand/Foot Malformation 4	Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th...	OMIM:605289
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Desbuquois Dysplasia 2	Single transverse palmar crease, Short neck, Metaphyseal widening, Synophrys, Knee dislocation, S...	OMIM:615777
Omodysplasia 2	Short humerus, Micrognathia, Anterior wedging of T11, Fibular hypoplasia, Limited elbow flexion/e...	OMIM:164745
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Short metatarsal, Advanced ossification of carpal bones, Obesity, Spinal canal ...	OMIM:614613
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Thoracolumbar scoliosis, ...	OMIM:113000
Syndactyly, Type V	Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p...	OMIM:186300
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Tetrasomy X	Clinodactyly of the 5th finger, Radioulnar synostosis, Hip dysplasia, Brachydactyly	ORPHA:9
Brachydactyly-Nystagmus-Cerebellar Ataxia	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:113400
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Microc...	ORPHA:3121
Coloboma Of Macula With Type B Brachydactyly	Type B brachydactyly, Broad distal phalanx of the thumb, Absent distal phalanges, Bifid distal ph...	OMIM:120400
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Microcephaly, Fibular hypoplasia, Aplasia/Hypo...	OMIM:612447
Bent Bone Dysplasia Syndrome 2	Relative macrocephaly, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femo...	OMIM:620076
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Sho...	ORPHA:93328
Upper Limb Defect-Eye And Ear Abnormalities Syndrome	Short thumb, Short metacarpal	ORPHA:2489
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormal ver...	ORPHA:1427
Ectrodactyly-Polydactyly Syndrome	Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t...	ORPHA:1892
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Talipes, Ovoid vertebral bodies, Abnormality of the vertebr...	ORPHA:1856
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t...	OMIM:246570
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip dysplasia, Sco...	ORPHA:2370
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Syndactyly Type 5	Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl...	ORPHA:93406
Multiple Epiphyseal Dysplasia Type 1	Brachydactyly, Abnormal acetabulum morphology, Avascular necrosis of the capital femoral epiphysi...	ORPHA:93308
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Radial club hand, Ulnar b...	ORPHA:2878
Brachydactyly, Type E2	Short metacarpal, Short metatarsal, Brachydactyly	OMIM:613382
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Pseudopseudohypoparathyroidism	Short metacarpal, Short neck, Short metatarsal, Obesity, Enamel hypoplasia, Brachydactyly	OMIM:612463
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Metaphyseal Chondrodysplasia, Schmid Type	Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral...	OMIM:156500
Chromosome 15Q13.3 Deletion Syndrome	Clinodactyly of the 5th finger, Synophrys, Brachydactyly	OMIM:612001
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Marinesco-Sjogren Syndrome	Pes planus, Short metacarpal, Elevated circulating creatine kinase concentration, Coxa valga, Mic...	OMIM:248800
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Spondyloepimetaphyseal Dysplasia, X-Linked	Anterior wedging of T12, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Gen...	OMIM:300106
Bardet-Biedl Syndrome 5	Syndactyly, Polydactyly, Obesity, Brachydactyly	OMIM:615983
Wt Limb-Blood Syndrome	Ulnar deviation of the 3rd finger, Absent thumb, Micrognathia, Short thumb, Radioulnar synostosis...	OMIM:194350
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Short toe, Short finger, Clinodactyly of the 5th finger, Short 5th metacarpal, Brachydactyly	OMIM:604381
Thumbs, Stiff, With Brachydactyly Type A1 And Developmental Delay	Type A1 brachydactyly	OMIM:188201
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Achondroplasia	Hip joint hypermobility, Bowing of the legs, Abnormal iliac wing morphology, Narrow greater sciat...	ORPHA:15
Triphalangeal Thumbs With Brachyectrodactyly	Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly	OMIM:190680
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Cone-shaped...	OMIM:617102
Atelosteogenesis, Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Increased intervertebral space, Lumbar h...	OMIM:256050
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Atelosteogenesis Type Ii	Cervical kyphosis, Micromelia, Micrognathia, Short neck, Short phalanx of finger, Broad metacarpa...	ORPHA:56304
Satoyoshi Syndrome	Pes planus, Short metacarpal, Alopecia, Short metatarsal, Osteolytic defects of the phalanges of ...	OMIM:600705
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Microcephaly, Hypoplasia of the radius, Patell...	OMIM:617604
Leri Pleonosteosis	Genu recurvatum, Camptodactyly of finger, Elbow dislocation, Abnormal finger morphology, Abnormal...	ORPHA:2900
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Exostoses With Anetodermia And Brachydactyly, Type E	Type E brachydactyly	OMIM:133690
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Tapered finger, Easily subluxated first metacarpophalangeal joints, Clinodactyly of...	OMIM:311895
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Coxa valga, Micrognathi...	OMIM:618150
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Mesomelia, Hernia of the abdominal wall, Brachydactyly	ORPHA:1277
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Flexion contrac...	OMIM:609162
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Brachydactyly, Microcephaly, Short distal phalanx of finger	ORPHA:2787
Tarsal-Carpal Coalition Syndrome	Tarsal synostosis, Humeroradial synostosis, Progressive fusion 2nd-5th pip joints, Short finger, ...	OMIM:186570
Heart-Hand Syndrome, Spanish Type	Ulnar deviation of the 2nd finger, Short middle phalanx of finger, Brachydactyly	OMIM:140450
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Epiphyseal dysplasia, Coxa valga, Genu valgum, Short phalanx of finger, Brachydactyly	OMIM:132450
Eng-Strom Syndrome	Camptodactyly of finger, Scoliosis, Brachydactyly	ORPHA:1937
Pelger-Huet Anomaly	Eczema, Kyphosis, Upper limb undergrowth, Macrocephaly, Polydactyly, Short 3rd metacarpal, Umbili...	OMIM:169400
Pde4D Haploinsufficiency Syndrome	Pes planus, Short metacarpal, Broad hallux, Abnormal dental enamel morphology, Micrognathia, Shor...	ORPHA:439822
Aminopterin Syndrome Sine Aminopterin	Syndactyly, Inguinal hernia, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Thoracic...	OMIM:600325
Tibial Hemimelia	Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac...	ORPHA:93322
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Hydrocephalus-Obesity-Hypogonadism Syndrome	Sparse facial hair, Absent facial hair, Short neck, Obesity, Low posterior hairline, Cubitus valg...	ORPHA:2183
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Short femur, Rhizomelia, Sandal gap, Small for gestational age, Hypoplasia of the ...	OMIM:607143
Codas Syndrome	Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ...	OMIM:600373
Trichorhinophalangeal Syndrome Type 1	Short metacarpal, Sparse eyelashes, Camptodactyly of finger, Micrognathia, Avascular necrosis of ...	ORPHA:77258
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid...	ORPHA:85167
Pseudopseudohypoparathyroidism	Short distal phalanx of the 3rd finger, Short metatarsal, Obesity, Short 5th finger, Short distal...	ORPHA:79445
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa...	OMIM:251450
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Epiphyseal dysplasia, Lumbar hyperlordosis, Large tarsal bones, Micrognathia, Flexion contracture...	OMIM:215150
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Perianal abscess, Widow's peak, Small hand, Broad finger, Clinodactyly, Short phalanx of finger, ...	OMIM:614684
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Clinodactyly of the 5th finger, Abnormal hand morphology, Short digit, Short 5th metacarpal	ORPHA:228190
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short metatarsal, Type E brachydactyly, Short 4th metacarpal	OMIM:113301
Aphalangy-Syndactyly-Microcephaly Syndrome	Toe syndactyly, Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, ...	ORPHA:1113
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Short 4th metacarpal, B...	OMIM:619638
Bardet-Biedl Syndrome 18	Obesity, Brachydactyly	OMIM:615995
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Fibular aplasia, Mesomelia, Shor...	OMIM:605274
Brachydactyly Type B2	Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ...	ORPHA:140908
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Exostoses-Anetodermia-Brachydactyly Type E Syndrome	Type E brachydactyly	ORPHA:1962
Cooks Syndrome	Split hand, Triphalangeal thumb, Dystrophic fingernails, Broad thumb, Dystrophic toenail, Brachyd...	ORPHA:1487
Peripheral Dysostosis	Short phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand	OMIM:170700
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Microcephaly, Abnormal thumb morphology, Abnormal metacarpal morphology, Hyperlord...	ORPHA:2511
2Q37 Microdeletion Syndrome	Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Eczema, Congenital diaphragma...	ORPHA:1001
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Nicolaides-Baraitser Syndrome	Short palm, Alopecia, Sandal gap, Eczema, Highly arched eyebrow, Curly eyelashes, Abnormal hair p...	ORPHA:3051
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Pes planus, Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Hyperlordosis, Hypoplasia...	OMIM:184250
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Hand polydactyly, Abnor...	OMIM:314390
Acrootoocular Syndrome	Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge...	ORPHA:2980
Temtamy Preaxial Brachydactyly Syndrome	Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Highly arched eyebrow, Synophr...	OMIM:605282
Synostoses, Tarsal, Carpal, And Digital	Short metacarpal, Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Meta...	OMIM:186400
Atelosteogenesis Type Iii	Short tubular bones of the hand, Micrognathia, Knee dislocation, Short tibia, Vertebral hypoplasi...	ORPHA:56305
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Acropectorovertebral Dysplasia	Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho...	OMIM:102510
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short metacarpal, Brachydactyly, Rhizomelia, Hypoplastic sacrum, Small for gestational age, Micro...	OMIM:614813
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Short clavicles, Type E brachydactyly, Brachydactyly	OMIM:113300
Emery-Nelson Syndrome	Camptodactyly of finger, Abnormal thumb morphology, Interphalangeal thumb joint contracture, Low ...	ORPHA:1927
Chromosome 2Q37 Deletion Syndrome	Short metacarpal, Short fourth metatarsal, Eczema, Highly arched eyebrow, Short toe, Obesity, Sho...	OMIM:600430
Chromosome 20Q11-Q12 Deletion Syndrome	Brachydactyly, Tarsal osteovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	OMIM:614257
Chromosome 15Q26-Qter Deletion Syndrome	Small for gestational age, Micrognathia, Microcephaly, Short middle phalanx of finger, Talipes eq...	OMIM:612626
Linear Verrucous Nevus Syndrome	Sparse scalp hair, Short metacarpal, Toe syndactyly, Genu recurvatum, Talipes, Scoliosis, Macroce...	ORPHA:2611
Microphthalmia With Limb Anomalies	Micrognathia, Abnormal form of the vertebral bodies, Tibial bowing, Camptodactyly of 2nd-5th fing...	ORPHA:1106
Hall-Riggs Syndrome	Metaphyseal dysplasia, Microcephaly, Kyphosis, Irregular vertebral endplates, Platyspondyly, Scol...	OMIM:234250
Melnick-Needles Syndrome	Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Coarse hair, Frontal hirsu...	OMIM:309350
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, Microcephaly...	OMIM:616723
Slc35A2-Cdg	Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus ...	ORPHA:356961
Stuve-Wiedemann Syndrome 1	Single transverse palmar crease, Micrognathia, Short neck, Tibial bowing, Femoral bowing, Knee fl...	OMIM:601559
Duane-Radial Ray Syndrome	Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ...	OMIM:607323
Congenital Absence/Hypoplasia Of Fingers Excluding Thumb, Unilateral	Short metacarpal, Short nail, Short thumb, Abnormal metacarpal morphology, Duplication of the dis...	ORPHA:973
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	Camptodactyly of finger, Aplasia/Hypoplasia of the distal phalanges of the toes, Tapered finger, ...	ORPHA:3201
Cohen Syndrome	Pes planus, Short metacarpal, Thoracic scoliosis, Small for gestational age, Single transverse pa...	OMIM:216550
Heart-Hand Syndrome, Slovenian Type	Syndactyly, Clinodactyly, Brachydactyly, Aplasia of the middle phalanx of the hand	OMIM:610140
Codas Syndrome	Short metacarpal, Congenital hip dislocation, Abnormal dental enamel morphology, Abnormal form of...	ORPHA:1458
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome	Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ...	ORPHA:1436
Zimmermann-Laband Syndrome 3	Thick hair, Aplasia of the distal phalanx of the 5th toe, Synophrys, Flexion contracture, Low ant...	OMIM:618658
Smith-Magenis syndrome	Brachydactyly	DECIPHER:8
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Elevated circulating creatine kinase concentration, Micromelia, Microcephaly, T...	OMIM:600092
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Acrodysplasia Scoliosis	Vertebral segmentation defect, Spina bifida occulta, Scoliosis, Brachydactyly	ORPHA:2956
Mesoaxial Synostotic Syndactyly With Phalangeal Reduction	Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th...	ORPHA:157801
Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction	Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl...	OMIM:609432
Moebius Syndrome	Syndactyly, Brachydactyly, Pes planus, Micrognathia, Short neck, Split hand, Abnormal pelvic gird...	OMIM:157900
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl...	ORPHA:3329
Microcephaly-Micromelia Syndrome	Micromelia, Absent thumb, Absent radius, Micrognathia, Missing ribs, Humeroradial synostosis, Mic...	OMIM:251230
Paget Disease Of Bone 5, Juvenile-Onset	Relative macrocephaly, Short humerus, Bowing of the long bones, Macular scar, Kyphosis, Lateral f...	OMIM:239000
Cornelia De Lange Syndrome 2	Thick eyebrow, Proximal placement of thumb, Limited elbow movement, Micrognathia, Highly arched e...	OMIM:300590
Keipert Syndrome	Broad hallux, Macrocephaly, Broad distal phalanx of finger, Camptodactyly, Clinodactyly, Broad th...	OMIM:301026
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
20Q11.2 Microdeletion Syndrome	Brachydactyly, Talipes calcaneovalgus, Finger clinodactyly, Camptodactyly, Adducted thumb	ORPHA:444051
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Micrognathia, Knee dislocation, Irregular vertebral endplates, Amelogenesis imperfecta, Microretr...	OMIM:618363
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Arthrogryposis, Distal, Type 3	Congenital hip dislocation, Overlapping toe, Single transverse palmar crease, Camptodactyly of fi...	OMIM:114300
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Squa...	OMIM:618961
Postaxial Oligodactyly, Tetramelic	Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat...	OMIM:176240
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,...	OMIM:609945
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Alopecia, Short hallux, Spinal rigidity, Aplasia/Hypoplasia of the phalanges of th...	ORPHA:337
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Short neck, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long b...	OMIM:151210
Santos Syndrome	Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda...	OMIM:613005
Symphalangism, Proximal, 1A	Tarsal synostosis, Aplasia/Hypoplasia of the middle phalanges of the hand, Metacarpophalangeal sy...	OMIM:185800
Acrofacial Dysostosis, Palagonia Type	Finger syndactyly, Sparse eyelashes, Micrognathia, Short neck, Small hand, Low anterior hairline,...	ORPHA:1787
Symphalangism, Distal	Distal symphalangism of hands, Distal foot symphalangism, Absent dorsal skin creases over affecte...	OMIM:185700
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Brachydactyly, Kyphosis, Hip dysplasia, Scoliosis, Hypoplastic iliac wing, Short distal phalanx o...	ORPHA:1858
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Deafness, Congenital, With Onychodystrophy, Autosomal Dominant	Toe syndactyly, Absent middle phalanx of 5th finger, Nail dystrophy, Triphalangeal thumb, Bilater...	OMIM:124480
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short neck, Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Short pha...	OMIM:250220
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno...	ORPHA:3344
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Macrocephaly, Clinodactyly, A...	ORPHA:166024
Craniosynostosis, Adelaide Type	Hallux valgus, Shortening of all middle phalanges of the fingers, Carpal bone malsegmentation, Co...	OMIM:600593
Acrocephalopolydactyly	Genu recurvatum, Short neck, Short long bone, Limb undergrowth, Brachydactyly	ORPHA:221054
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Mesomelic/rhizomelic limb shortening, Hypoplastic ...	ORPHA:2347
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis...	OMIM:250420
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Weyers Acrofacial Dysostosis	Postaxial hand polydactyly, Postaxial foot polydactyly, Short palm, Clinodactyly of the 5th finge...	OMIM:193530
Pseudohypoparathyroidism, Type Ib	Short metacarpal, Obesity, Brachydactyly	OMIM:603233
Intellectual Developmental Disorder, Autosomal Dominant 59	Short palm, Sacral dimple, Highly arched eyebrow, Short foot, Macrocephaly, Brachydactyly	OMIM:618522
Greenberg Dysplasia	Micromelia, Micrognathia, Tetraphocomelia, Hypoplastic vertebral bodies, Hypoplasia of the calcan...	OMIM:215140
Schneckenbecken Dysplasia	Hypoplastic scapulae, Ovoid vertebral bodies, Dumbbell-shaped long bone, Short neck, Snail-like i...	OMIM:269250
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Trichorhinophalangeal Syndrome, Type I	Pes planus, Short metacarpal, Scapular winging, Ivory epiphyses of the distal phalanges of the ha...	OMIM:190350
Orofaciodigital Syndrome Xviii	Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va...	OMIM:617927
Carpenter Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Postaxial hand polydactyly, Obesit...	ORPHA:65759
Opsismodysplasia	Short metacarpal, Rhizomelia, Short neck, Hypoplasia of the odontoid process, Squared iliac bones...	OMIM:258480
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Epiphyseal dysplasia, Pes planus, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Short neck, Triangular shaped distal phalanges of t...	OMIM:271665
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Osteopathia striata, Low anterior hairline, Finger joint hyperm...	OMIM:212720
2q37 monosomy	Brachydactyly	DECIPHER:44
Brachydactylous Dwarfism, Mseleni Type	Protrusio acetabuli, Abnormal femoral head morphology, Short toe, Knee osteoarthritis, Platyspond...	ORPHA:2619
C Syndrome	Omphalocele, Short metacarpal, Toe syndactyly, Micromelia, Micrognathia, Microcephaly, Postaxial ...	OMIM:211750
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers...	OMIM:227270
Muenke Syndrome	Broad hallux, Capitate-hamate fusion, Low anterior hairline, Cone-shaped epiphyses of the phalang...	OMIM:602849
Proximal Symphalangism	Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ...	ORPHA:3250
Tricho-Retino-Dento-Digital Syndrome	Abnormality of the hand, Sparse hair, Uncombable hair, Short 5th metacarpal, Brachydactyly	ORPHA:1264
Phenobarbital Embryopathy	Microcephaly, Aplasia/Hypoplasia of fingers, Brachydactyly	ORPHA:1919
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, O...	OMIM:608728
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, Knee dislocation, Shoulder dislo...	OMIM:143095
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification,...	OMIM:271640
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Orofaciodigital Syndrome Ix	Toe syndactyly, Microcephaly, Hand polydactyly, Camptodactyly, Short tibia	OMIM:258865
11Q22.2Q22.3 Microdeletion Syndrome	Bilateral single transverse palmar creases, Micrognathia, Small hand, Obesity, Short foot, Clinod...	ORPHA:444002
Spondylocarpotarsal Synostosis Syndrome	Short neck, Coxa vara, Vertebral segmentation defect, Clinodactyly of the 5th finger, Vertebral f...	OMIM:272460
Wiedemann-Steiner Syndrome	Elbow hypertrichosis, Micrognathia, Synophrys, Clinodactyly of the 5th finger, Short phalanx of f...	OMIM:605130
Non-Syndromic Bicoronal Craniosynostosis	Metacarpal synostosis, Brachydactyly	ORPHA:35099
Spondyloepiphyseal Dysplasia Tarda, Kohn Type	Abnormality of the knee, Platyspondyly, Abnormality of the ankle, Bilateral coxa valga, Abnormal ...	ORPHA:163665
Erythrokeratodermia Variabilis	Alopecia, Skin rash, Tapered finger, Abnormal hair morphology, Microcephaly, Patchy palmoplantar ...	ORPHA:317
Stuve-Wiedemann Syndrome 2	Bowing of the long bones, Eczema, Short long bone, Stillbirth, Scoliosis, Camptodactyly, Neonatal...	OMIM:619751
Banki Syndrome	Clinodactyly of the 5th finger, Brachydactyly, Synostosis of carpal bones, Abnormal metacarpal mo...	ORPHA:1228
Lowry-Wood Syndrome	Epiphyseal dysplasia, Abnormality of nail color, Microcephaly, Elbow dislocation, Coxa vara, Irre...	ORPHA:1824
Andersen Cardiodysrhythmic Periodic Paralysis	Scapular winging, Short metacarpal, Toe syndactyly, Micrognathia, Microcephaly, Short metatarsal,...	OMIM:170390
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Microcephaly, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinova...	ORPHA:86822
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Intellectual Developmental Disorder, Autosomal Recessive 74	Relative macrocephaly, Macrocephaly, Brachydactyly	OMIM:617169
Alopecia-Intellectual Disability Syndrome	Sparse scalp hair, Alopecia, Microcephaly, Split hand, Flexion contracture, Scoliosis, Sparse bod...	ORPHA:2850
Roifman Syndrome	Hip contracture, Brachydactyly, Epiphyseal dysplasia, Biconvex vertebral bodies, Eczema, Microcep...	ORPHA:353298
Pseudohypoparathyroidism, Type Ia	Short metacarpal, Short neck, Short toe, Short metatarsal, Obesity, Short finger, Enamel hypoplas...	OMIM:103580
Anonychia-Ectrodactyly	Split hand, Aplasia of metacarpal bones	OMIM:106900
Boomerang Dysplasia	Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,...	ORPHA:1263
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal fibula ...	ORPHA:1836
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Short neck, Delayed epiphyseal ossific...	OMIM:210710
Adams-Oliver Syndrome 3	Microcephaly, Absent toe, Short metatarsal, 2-3 toe syndactyly, Short palm, Short distal phalanx ...	OMIM:614814
Anauxetic Dysplasia 1	Hip contracture, Lumbar hyperlordosis, Rhizomelia, Short neck, Hypoplastic ilia, Short toe, Flare...	OMIM:607095
Ring Chromosome 6 Syndrome	Microcephaly, Short neck, Low posterior hairline, Short distal phalanx of finger	ORPHA:1448
Urban-Rogers-Meyer Syndrome	Toe syndactyly, Camptodactyly of finger, Micrognathia, Short neck, Kyphosis, Obesity, Short foot,...	ORPHA:3409
Osteogenesis Imperfecta, Type Viii	Short metacarpal, Radial bowing, Inguinal hernia, Femoral retroversion, Wide anterior fontanel, K...	OMIM:610915
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short neck, Hypoplastic ilia, Hume...	ORPHA:93333
Cutis Laxa, Autosomal Recessive, Type Iie	Syndactyly, Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow,...	OMIM:619451
Odontotrichoungual-Digital-Palmar Syndrome	Brachydactyly, Single transverse palmar crease, Abnormality of hair texture, Short first metatars...	OMIM:601957
Brachydactyly, Type B2	Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the...	OMIM:611377
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Relative macrocephaly, Lumbar hyperlordosis, Rhizomelia, Short neck, Metaphyseal widening, Irregu...	OMIM:612813
Craniofrontonasal Dysplasia	Finger syndactyly, Broad hallux phalanx, Sandal gap, Camptodactyly of finger, Down-sloping should...	ORPHA:1520
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Increased intervertebral space, Thoracolumbar kyphosis, Nar...	ORPHA:508533
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Microcephaly, Abnormal shoulder morphology, Abnor...	ORPHA:1422
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Coxa valga, Micrognathia, Short neck...	OMIM:620073
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification...	OMIM:300244
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Truncal obesity, Abnormal pelvic ...	ORPHA:2928
Keratoconus Posticus Circumscriptus	Limited elbow extension and supination, Short neck, Webbed neck, Clinodactyly of the 5th finger, ...	OMIM:244600
Acrodysostosis 1 With Or Without Hormone Resistance	Short metacarpal, Brachydactyly, Small for gestational age, Neonatal epiphyseal stippling, Short ...	OMIM:101800
Cri-Du-Chat Syndrome	Microretrognathia, Syndactyly, Short metacarpal, Inguinal hernia, Small for gestational age, Sing...	OMIM:123450
Symphalangism, Distal, With Microdontia, Dental Pulp Stones, And Narrowed Zygomatic Arch	Aplasia/Hypoplasia of the middle phalanges of the hand, Absent trapezium, Cone-shaped epiphyses o...	OMIM:606895
Peripheral Dysostosis	Clinodactyly of the 5th finger, Cone-shaped epiphyses of the phalanges of the hand, Brachydactyly	ORPHA:1795
Osteoglophonic Dysplasia	Short neck, Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacar...	OMIM:166250
20P13 Microdeletion Syndrome	Finger syndactyly, Failure to thrive in infancy, Highly arched eyebrow, Microcephaly, Wide anteri...	ORPHA:313781
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Kyphoscoliosis, Short tubular bones o...	OMIM:184253
Greenberg Dysplasia	Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific...	ORPHA:1426
Hall-Riggs Syndrome	Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Microcephaly, Coarse hair, Plat...	ORPHA:2107
Shox-Related Short Stature	Micrognathia, Short neck, Madelung deformity, Obesity, Tibial bowing, Short foot, Genu valgum, Fo...	ORPHA:314795
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v...	OMIM:602111
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip dysplasia, Short middle phalanx of finger, Abnormal epiphysis morphology, Short middle phalan...	ORPHA:63442
Jeune Syndrome	Toe syndactyly, Micromelia, Postaxial hand polydactyly, Postaxial foot polydactyly, Cone-shaped e...	ORPHA:474
Tetralogy Of Fallot	Clinodactyly of the 5th finger, Brachydactyly	ORPHA:3303
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Tapered finger, Short 3rd toe, Short thumb, Microcephaly, Split hand, Low anterior hair...	OMIM:618569
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures	High anterior hairline, Sparse lateral eyebrow, Brachydactyly	OMIM:618879
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Micrognathia, Abnormal sacrum morphology, Abnormal fibula morpholog...	ORPHA:1988
Roifman-Chitayat Syndrome	Short metacarpal, Short neck, Short metatarsal, Cone-shaped epiphysis, Umbilical hernia	OMIM:613328
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Short neck, Metaphyseal widening, Flexion contracture, Low anterior hairline, Coxa vara, Metaphys...	OMIM:300232
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Short thumb, Lumbar hyperlordosis, Broad hallux, Brachydactyly	OMIM:165800
Schaaf-Yang Syndrome	Failure to thrive in infancy, Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, ...	OMIM:615547
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Short femur, Inguinal hernia, Single transverse palmar crease, M...	OMIM:616145
Marinesco-Sjögren Syndrome	Short palm, Coxa valga, Avascular necrosis of the capital femoral epiphysis, Microcephaly, Abnorm...	ORPHA:559
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Bardet-Biedl Syndrome 4	Syndactyly, Polydactyly, Obesity, Brachydactyly	OMIM:615982
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Micrognathia, Limited knee flexion, Short ...	OMIM:258315
Atelosteogenesis, Type Iii	Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Micrognat...	OMIM:108721
Frank-Ter Haar Syndrome	Inguinal hernia, Acne, Camptodactyly of finger, Genu recurvatum, Kyphosis, Scoliosis, Abnormal me...	ORPHA:137834
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum, Acetabular spurs, Sho...	OMIM:617405
Charlie M Syndrome	Finger syndactyly, Micrognathia, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology,...	ORPHA:1406
Dyggve-Melchior-Clausen Disease	Glenoid fossa hypoplasia, Short neck, Coxa vara, Rhizomelia, Iliac crest serration, Hypoplasia of...	ORPHA:239
Temtamy Syndrome	Pes planus, Micrognathia, Short toe, Genu varum, Macrocephaly, Clinodactyly of the 5th finger, Br...	ORPHA:1777
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Pseudohypoparathyroidism, Type Ic	Short metacarpal, Short neck, Short metatarsal, Obesity, Enamel hypoplasia, Brachydactyly	OMIM:612462
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Syndactyly, Alopecia, Osteolysis involving bones of the upper limbs, Flexion contracture, Osteoly...	ORPHA:88630
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Flared metaphysis, Short greater ...	OMIM:187601
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th finger, Radial bowing, ...	OMIM:210720
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Brachydactyly, Broad long bones, Abnormal metatarsal morphology, Curly eyelashes, Sho...	ORPHA:163654
Spondyloepiphyseal Dysplasia, Nishimura Type	Cone-shaped epiphysis, Delayed epiphyseal ossification, Small hand, Brachydactyly	OMIM:618618
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Omphalocele, Relative macrocephaly, Rhizomelia, Postaxial polydactyly, Sparse ...	OMIM:616300
Hirschsprung Disease-Type D Brachydactyly Syndrome	Short phalanx of hallux, Short distal phalanx of the thumb, Brachydactyly	ORPHA:2150
Nevus Comedonicus Syndrome	Finger syndactyly, Toe syndactyly, Microcephaly, Abnormal hair morphology, Abnormal foot morpholo...	ORPHA:64754
Spondylometaphyseal Dysplasia, Schmidt Type	Metaphyseal dysplasia, Abnormality of the knee, Irregular iliac crest, Abnormality of the epiphys...	ORPHA:93316
15Q24 Microdeletion Syndrome	Small for gestational age, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal...	ORPHA:94065
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Pes planus, Scapular winging, Single transverse palmar crease, Micromelia, Mon...	OMIM:618870
Fountain Syndrome	Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Abnormal foot morphology, Synophrys,...	ORPHA:3219
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ...	OMIM:613091
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Metaphyseal dysplasia, Short metacarpal, Sparse eyelashes, Micrognathia, Sparse eyebrow, Metaphys...	OMIM:250410
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Abnormal epiphysis morphology of the phalanges of the hand, Brachydactyly	OMIM:619248
Larsen Syndrome	Cervical kyphosis, Short metatarsal, Knee dislocation, Spina bifida occulta, Hypoplastic cervical...	OMIM:150250
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Lumbar hyperlordosis, Bowing of the legs, ...	OMIM:100800
Trichothiodystrophy 9, Nonphotosensitive	Sparse eyebrow, Nail dystrophy, Sparse hair, Tiger tail banding, Brachydactyly	OMIM:619692
Cranioectodermal Dysplasia 1	Broad toe, Brachydactyly, Short humerus, Rhizomelia, Single transverse palmar crease, Broad dista...	OMIM:218330
Shashi-Pena Syndrome	Short metacarpal, Highly arched eyebrow, Kyphosis, Synophrys, Deep palmar crease, Long eyelashes,...	OMIM:617190
Dihydropyrimidinase Deficiency	Short phalanx of finger, Talipes equinovarus	OMIM:222748
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Short humerus, Short metacarpal, Eczema, Rhizomelic arm shortening, Panniculitis, Brachydactyly	ORPHA:508542
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o...	OMIM:114290
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Kyphoscoliosis, Cox...	OMIM:617425
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Finger syndactyly, Alopecia, Abnormal dental enamel morphology, Microcephaly, Kyphosis, Abnormali...	ORPHA:1005
Congenital Disorder Of Glycosylation, Type Iic	Microcephaly, Widow's peak, Short foot, Cellulitis, Brachydactyly	OMIM:266265
Opsismodysplasia	Abnormally ossified vertebrae, Tapered finger, Squared iliac bones, Hypoplastic pubic bone, Hypop...	ORPHA:2746
Lowry-Wood Syndrome	Small for gestational age, Microcephaly, Squared iliac bones, Limited elbow extension, Hip disloc...	OMIM:226960
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Scapular winging, Toe syndactyly, Brachydactyly, Camptodactyly of finger, Highly a...	ORPHA:1327
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Sparse scalp hair, Single transverse palmar crease, Microcephaly, Adducted thumb, Macrocephaly, H...	OMIM:620062
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Microcephaly, Short thumb, Hy...	ORPHA:2319
Nicolaides-Baraitser Syndrome	Dry hair, Single transverse palmar crease, Short metatarsal, Low anterior hairline, Prominent int...	OMIM:601358
Multiple Synostoses Syndrome 2	Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Talipes equin...	OMIM:610017
Short Stature-Advanced Bone Age-Early-Onset Osteoarthritis Syndrome	Short thumb, Brachydactyly	ORPHA:435804
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperlordosis, Kyphosis, Short toe, Obesity, Broad foot, Keloids, Brachydactyly	ORPHA:3085
Alg6-Cdg	Shortening of all distal phalanges of the fingers, Hypoalbuminemia, Scoliosis, Failure to thrive,...	ORPHA:79320
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Coffin-Lowry Syndrome	Pes planus, Short metacarpal, Brachydactyly, Pseudoepiphyses of the metacarpals, Tapered finger, ...	ORPHA:192
Microcephaly-Albinism-Digital Anomalies Syndrome	Microcephaly, Micrognathia, Short distal phalanx of finger, Aplasia/Hypoplasia of the distal phal...	ORPHA:2513
Maxillonasal Dysplasia, Binder Type	Patchy distortion of vertebrae, Vertebral clefting, Short distal phalanx of finger	OMIM:155050
Temtamy Preaxial Brachydactyly Syndrome	Proximal radio-ulnar synostosis, Brachydactyly, Duplication of thumb phalanx, Short hallux, Tibia...	ORPHA:363417
Carpenter Syndrome 1	Duplication of the proximal phalanx of the hallux, Micrognathia, Short neck, Clinodactyly of the ...	OMIM:201000
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Sandal gap, Abnormal dental enamel morphology, Hemivertebrae, Obesity, Abnormal form of the verte...	ORPHA:2180
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint...	ORPHA:93284
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Micromelia, Micrognathia, Elbow dislocation, Abnor...	ORPHA:93329
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Short long bone, Obesity, Postaxial polydactyly, Brachydactyly	OMIM:615633
Cranioectodermal Dysplasia	Finger syndactyly, Brachydactyly, Rhizomelia, Abnormal dental enamel morphology, Abnormal diaphys...	ORPHA:1515
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Coxa valga, Elbow dislocation, Advanced ossification of carpal bones, Knee dislocation, Short lon...	OMIM:620269
Otopalatodigital Syndrome Type 1	Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t...	ORPHA:90650
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Short long bone, Polydactyly, Scoliosis, Brachydactyly	OMIM:613819
Occipital Horn Syndrome	Short humerus, Pes planus, Decreased circulating ceruloplasmin concentration, Pelvic bone exostos...	OMIM:304150
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Brachydactyly, Inguinal hernia, Abnormal hair pattern, Micr...	ORPHA:1786
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short neck, Short metatarsal, Tibial...	OMIM:304120
Craniosynostosis 3	Hallux valgus, Low anterior hairline, Single transverse palmar crease, Brachydactyly	OMIM:615314
Heart-Hand Syndrome, Slovenian Type	Abnormal foot morphology, Brachydactyly	ORPHA:168796
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Flexion contracture, Hypertrichosis, Short long bon...	OMIM:619479
Spondyloepimetaphyseal Dysplasia, Shohat Type	Bowing of the legs, Short neck, Hyperlordosis, Delayed epiphyseal ossification, Metaphyseal widen...	ORPHA:93352
Microcephalic Primordial Dwarfism, Toriello Type	Enamel hypoplasia, Microcephaly, Abnormal epiphysis morphology, Brachydactyly	ORPHA:2643
Spondyloepiphyseal Dysplasia Congenita	Back pain, Limited elbow movement, Micrognathia, Short neck, Increased head circumference, Abnorm...	ORPHA:94068
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Sandal gap, Short toe, Synophrys, Clinodactyly of the 5th finger, Spina bifida ...	OMIM:617877
Thrombocytopenia-Absent Radius Syndrome	Edema of the dorsum of feet, Micrognathia, Femoral bowing, Abnormal shoulder morphology, Clinodac...	OMIM:274000
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Down-sloping shoulders, Synophrys, Scoliosis, Clinodactyly of the 5th finger, Brachydactyly	ORPHA:1390
Camptobrachydactyly	Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna...	ORPHA:1319
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Hemivertebrae, Short ribs, Hypopla...	OMIM:173800
Dermatoosteolysis, Kirghizian Type	Tarsal synostosis, Abnormality of the hand, Abnormal foot morphology, Dystrophic fingernails, Abn...	ORPHA:1657
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Short 4th metacarpal, Short clavicles, Microcephaly	OMIM:606220
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Abnormality of the wrist, Elbow ankylosis, Abnormal vertebra...	ORPHA:95699
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Postaxial polydactyly, Micrognathia, Short neck, Wide anterior fontanel, Preaxial polydactyly, Hy...	OMIM:617925
Xylt1-Cdg	Relative macrocephaly, Pes planus, Acne, Coxa valga, Microcephaly, Synophrys, Flared metaphysis, ...	ORPHA:370930
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n...	OMIM:206920
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Micrognathia, Large for gestational age, Short neck, Flexion con...	ORPHA:96334
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis	Psoriasiform dermatitis, Acne, Skin rash, Elevated circulating C-reactive protein concentration, ...	ORPHA:324964
Mal De Meleda	Congenital symmetrical palmoplantar keratosis, Brachydactyly	OMIM:248300
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Abnormally ossified vertebrae, Micrognathia, Hypoplastic pubic bone, Flared metaphysis, Short lon...	ORPHA:93346
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Pruritus, Short toe, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Platyspondyly, ...	OMIM:619269
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Hallux valgus, Absent eyebrow, Short metacarpal, Alopecia, Inguinal hernia, Pes planus, Micrognat...	ORPHA:166035
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Relative macrocephaly, Pes planus, Sandal gap, Kyphosis, Small hand, Short foot, Abdominal obesit...	OMIM:300354
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Syndactyly, Clinodactyly, Brachydactyly	OMIM:610023
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Combined Oxidative Phosphorylation Deficiency 2	Neonatal death, Small for gestational age, Brachydactyly	OMIM:610498
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short neck, Hemivertebrae, Short palm, Thoracic hemivertebrae, Duplication of the d...	OMIM:268310
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Larsen Syndrome	Finger syndactyly, Short nail, Accessory carpal bones, Vertebral segmentation defect, Abnormal ep...	ORPHA:503
Satoyoshi Syndrome	Abnormality of the knee, Tapered finger, Abnormality of the humerus, Abnormal hair morphology, Mi...	ORPHA:3130
2Q31.1 Microdeletion Syndrome	Micrognathia, Short neck, Abnormal tibia morphology, Synophrys, Low anterior hairline, Vertebral ...	ORPHA:251014
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Pes planus, Single transver...	OMIM:305400
Kniest Dysplasia	Hip contracture, Inguinal hernia, Rhizomelia, Dumbbell-shaped long bone, Short neck, Delayed epip...	OMIM:156550
Cleidocranial Dysplasia	Micrognathia, Coxa vara, Hypoplastic inferior ilia, Clinodactyly of the 5th finger, Spina bifida ...	ORPHA:1452
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Abnormal vertebr...	OMIM:218600
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Metaphyseal widening, Coxa vara, Thoracic kyphosis, Lumbar interpedicular narrowing, Genu varum, ...	OMIM:271510
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Vertebral fusion, Vaginal hernia, Abnormal dental enamel morphology, Elbow dislocation, Kyphosis,...	ORPHA:2916
Hirschsprung Disease With Type D Brachydactyly	Short thumb, Type D brachydactyly	OMIM:306980
Weismann-Netter Syndrome	Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho...	OMIM:112350
Thanatophoric Dysplasia	Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Hip dysplasia, Platyspondyly, Macroce...	ORPHA:2655
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Radioulnar dislocation, ...	OMIM:164900
Proteasome-Associated Autoinflammatory Syndrome 2	Neutrophilic infiltration of the skin, Lipodystrophy, Skin rash, Elevated circulating C-reactive ...	OMIM:618048
Waardenburg Syndrome, Type 3	Scapular winging, Camptodactyly of finger, Microcephaly, Synophrys, Premature graying of hair, Cu...	OMIM:148820
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Eczema, Microcephaly, Short neck, Obesity, Patellar hypoplasia, Brachyda...	ORPHA:464288
Vitamin K Antagonist Embryofetopathy	Short neck, Punctate vertebral calcifications, Epiphyseal stippling, Short distal phalanx of fing...	ORPHA:1914
Suleiman-El-Hattab Syndrome	Microretrognathia, Inguinal hernia, Thick eyebrow, Single transverse palmar crease, Highly arched...	OMIM:618950
Frontonasal Dysplasia 1	Frontal cutaneous lipoma, Pericallosal lipoma, Postaxial hand polydactyly, Hypoplastic frontal si...	OMIM:136760
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Short neck, Flexion contracture, Genu varum, Long toe, Absent eyebrow, Alopecia, Ab...	OMIM:264090
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Epiphyseal dysplasia, Shortening of all middle phalanges of the fingers, Ivory epiphyses of the t...	OMIM:226980
Ritscher-Schinzel Syndrome 3	Relative macrocephaly, Hypoplasia of the ulna, Highly arched eyebrow, Micrognathia, Wide anterior...	OMIM:619135
Spastic Paraplegia 20, Autosomal Recessive	Ulnar deviation of the hand, Kyphoscoliosis, Flexion contracture, Short foot, Ankle clonus, Hamme...	OMIM:275900
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Relative macrocephaly, Lumbar hyperlordosis, Rhizomelia, Short neck, Mesomelia, Broad thumb, Brac...	ORPHA:171866
Potocki-Shaffer Syndrome	Sparse lateral eyebrow, 2-5 finger cutaneous syndactyly, Single transverse palmar crease, Brachyd...	OMIM:601224
Laurence-Moon Syndrome	Finger syndactyly, Bilateral single transverse palmar creases, Obesity, Hand polydactyly, Brachyd...	ORPHA:2377
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Short hallux, Proximal placement of thumb, Hal...	OMIM:140000
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Short long bone, Acetabu...	OMIM:615503
Osteoglosphonic Dysplasia	Inguinal hernia, Rhizomelia, Failure to thrive in infancy, Micrognathia, Abnormal form of the ver...	ORPHA:2645
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect...	ORPHA:2911
Cryptomicrotia-Brachydactyly-Excess Fingertip Arch Syndrome	Short distal phalanx of finger, Brachytelomesophalangy	ORPHA:1547
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Short neck, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Abnormal vertebral morphology, Vert...	ORPHA:93315
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Rhizomelia, Short femur, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Pfeiffer Syndrome	Finger syndactyly, Brachydactyly, Short neck, Hyperlordosis, Symphalangism affecting the phalange...	ORPHA:710
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ...	OMIM:617866
Bardet-Biedl Syndrome 9	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl...	OMIM:615986
Weill-Marchesani Syndrome 2	Short metacarpal, Lumbar hyperlordosis, Broad skull, Short metatarsal, Broad palm, Elbow flexion ...	OMIM:608328
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Sparse scalp hair, Abnormal intervertebral disk morphology, Abnormality of the elbow, Low posteri...	ORPHA:2701
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Spinocerebellar Ataxia, Autosomal Recessive 20	Relative macrocephaly, Brachydactyly, Kyphoscoliosis, Talipes equinovarus, Scoliosis, Camptodacty...	OMIM:616354
Fibrochondrogenesis 1	Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v...	OMIM:228520
Spondylometaphyseal Dysplasia, Sedaghatian Type	Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi...	ORPHA:93317
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Inguinal hernia, Short neck, Hyperlordosis, Abnormal form of the vertebral bodies, Umbilical hern...	ORPHA:3218
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Alopecia, Brittle hair, Decreased adipose tissue ar...	OMIM:608612
Lujan-Fryns Syndrome	Arachnodactyly, Camptodactyly of finger, Micrognathia, Scoliosis, Macrocephaly, Brachydactyly	ORPHA:776
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Flared ...	OMIM:187600
Non-Distal Deletion 10Q	Brachydactyly, Synophrys, Biparietal narrowing, Clinodactyly of the 5th finger, Overlapping finge...	ORPHA:1581
Nance-Horan Syndrome	Short metacarpal	ORPHA:627
Diamond-Blackfan Anemia 21	Hallux valgus, Pes planus, Sandal gap, Tapered finger, Micrognathia, Preaxial hand polydactyly, S...	OMIM:620072
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Cutaneous syn...	OMIM:236500
Rubinstein-Taybi Syndrome	Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Failure to...	ORPHA:783
Short Stature With Microcephaly And Distinctive Facies	Microretrognathia, Syndactyly, Short digit, Sparse scalp hair, Small for gestational age, Proxima...	OMIM:615789
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Hallux valgus, Broad hallux, Tapered finger, Micrognathia, Long fingers, Short toe, 2-3 toe synda...	OMIM:618659
Ophthalmomandibulomelic Dysplasia	Camptodactyly of finger, Micromelia, Elbow dislocation, Lateral humeral condyle aplasia, Radiouln...	ORPHA:2741
Developmental And Epileptic Encephalopathy 95	Short fourth metatarsal, Brachydactyly, Multiple joint contractures, Single transverse palmar cre...	OMIM:618143
Abruzzo-Erickson Syndrome	Toe syndactyly, Short toe, Ulnar deviation of finger, Radioulnar synostosis, Brachydactyly	ORPHA:921
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Short neck, Aplasia/hypopla...	ORPHA:485
Keipert Syndrome	Broad hallux phalanx, Short hallux, Aplasia/Hypoplasia of the distal phalanges of the toes, Broad...	ORPHA:2662
Refsum Disease	Short metacarpal, Abnormal foot morphology, Hammertoe, Abnormal epiphysis morphology, Pes cavus	ORPHA:773
Frontometaphyseal Dysplasia 2	Hip contracture, Short metacarpal, Congenital hip dislocation, Ulnar deviation of the hand, Elbow...	OMIM:617137
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus, Abnormal circulating ceruloplasmin concentration	OMIM:620306
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Preaxial hand polydactyly, Postaxial hand polydactyly, Disproportionate shortening of the tibia, ...	OMIM:263520
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Stillbirth, Bilate...	OMIM:119800
Cerebrocostomandibular Syndrome	11 pairs of ribs, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyse...	OMIM:117650
Müllerian Aplasia And Hyperandrogenism	Thick eyebrow, Acne, Frontal balding, Short neck, Synophrys, Obesity, Facial hirsutism, Cubitus v...	ORPHA:247768
Sponastrime Dysplasia	Delayed epiphyseal ossification, Osteopathia striata, Metaphyseal widening, Coxa vara, Ivory epip...	ORPHA:93357
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Micrognathia, Short neck, Humeroradial synostosis, Hypoplasia of...	ORPHA:3404
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Syndactyly, Relative macrocephaly, Micromelia, Postaxial polydactyly, Hypoplastic il...	OMIM:617895
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Syndactyly, Sacral dimple, Micrognathia, Short neck, Kyphosis, Webbed neck, Macrocep...	OMIM:616894
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Vertebral fusion, Sacral dimple, Short long bone, Vertebral segmentation defect, Talipes equinovarus	OMIM:618845
Cardiospondylocarpofacial Syndrome	Brachydactyly, Synostosis of carpal bones, Abnormal form of the vertebral bodies, Short palm	ORPHA:3238
Pseudohypoparathyroidism Type 1C	Short metacarpal, Short fifth metatarsal, Short neck, Short metatarsal, Obesity, Short 3rd metaca...	ORPHA:79444
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Congenital diaphragmatic hernia,...	ORPHA:958
Kury-Isidor Syndrome	Finger syndactyly, Alopecia, Sacral dimple, Rocker bottom foot, Proximal placement of thumb, Shor...	OMIM:619762
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Micrognathia, Split hand, Webbed neck, Brachydactyly	ORPHA:2145
Jansen-De Vries Syndrome	Hyperlordosis, Central diaphragmatic hernia, Small hand, Short foot, Brachydactyly	OMIM:617450
Coffin-Siris Syndrome 2	Sparse scalp hair, Inguinal hernia, Thick eyebrow, Sandal gap, Microcephaly, Low anterior hairlin...	OMIM:614607
Fibrochondrogenesis 2	Micrognathia, Hypoplastic ilia, Metaphyseal widening, Hypoplastic pubic bone, Short long bone, Pl...	OMIM:614524
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Thick hair, Micrognathia, Short tibia, Adactyly, Broad first met...	ORPHA:2751
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Failure to thrive, Lipoatrophy, Micrognathia, Hyperextensibility of the knee, Palm...	OMIM:601812
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Microcephaly, Flexion contracture, Polydactyly, Failure to thrive	ORPHA:17
Oculomaxillofacial Dysostosis	Brachydactyly, Camptodactyly of finger, Micrognathia, Abnormality of the humerus, Abnormal eyelas...	ORPHA:1794
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the...	ORPHA:1788
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Postaxial hand polydactyly, Obesity, Cone-shaped epiphyses of the phalanges of the hand, Genu val...	OMIM:615630
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Micrognathia, Short neck, Short metatarsal, Clinodactyly of the 5th finger, Short phalanx of fing...	OMIM:266920
Aredyld Syndrome	Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Abnormal pelvic girdle bone morphology,...	ORPHA:1133
Fibrodysplasia Ossificans Progressiva	Hallux valgus, Small cervical vertebral bodies, Alopecia, Progressive cervical vertebral spine fu...	OMIM:135100
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ...	OMIM:614091
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bulging epiphyses, Bowing of the long bones, Alopecia, Rickets of the lower limbs, Delayed epiphy...	OMIM:600785
Occipital Horn Syndrome	Coxa vara, Humerus varus, Coarse hair, Short palm, Large iliac wing, Abnormality of the wrist, Fe...	ORPHA:198
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, P...	OMIM:603671
Rothmund-Thomson Syndrome Type 2	Short metacarpal, Plantar hyperkeratosis, Small for gestational age, Aplasia/hypoplasia involving...	ORPHA:221016
Dysostosis, Stanescu Type	Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Microcephaly, Short neck...	ORPHA:1798
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Abnormal hair whorl, Clinodactyly, Failure to thrive, Short distal pha...	OMIM:614261
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Iliac crest serration, Small for gestational age, Micromelia, Short neck, Wide distal femoral met...	OMIM:613320
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Microcephaly, Tapered finger, Thick eyebrow	OMIM:618367
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Abnormal sacrum morphology, Brachydactyly, Abnormal form of the vertebral bodies, Abnormal metaca...	ORPHA:93262
Rothmund-Thomson Syndrome Type 1	Short metacarpal, Plantar hyperkeratosis, Small for gestational age, Abnormal dental enamel morph...	ORPHA:221008
Basal Cell Nevus Syndrome 1	Vertebral fusion, Down-sloping shoulders, Kyphoscoliosis, Palmar pits, Plantar pits, Irregular os...	OMIM:109400
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Thanatophoric Dysplasia Type 2	Micromelia, Kyphosis, Platyspondyly, Macrocephaly, Abnormal metaphysis morphology, Brachydactyly	ORPHA:93274
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Micrognathia, Flared m...	ORPHA:50945
Camptobrachydactyly	Syndactyly, Short toe, Hand polydactyly, Congenital finger flexion contractures, Brachydactyly	OMIM:114150
Frank-Ter Haar Syndrome	Bowing of the long bones, Acne, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Microgn...	OMIM:249420
Wiedemann-Rautenstrauch Syndrome	Synophrys, Hypoplastic vertebral bodies, Sparse hair, Loss of facial adipose tissue, Long toe, 2-...	ORPHA:3455
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
Holoprosencephaly-Craniosynostosis Syndrome	Coxa valga, Microcephaly, Hypoplastic vertebral bodies, Clinodactyly of the 5th finger, Short dis...	ORPHA:2163
Gorlin Syndrome	Vertebral fusion, Arachnodactyly, Palmar pits, Plantar pits, Hemivertebrae, Vertebral wedging, Sc...	ORPHA:377
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Short long bone, Flared elbow metaphyses, Limb undergrowth	ORPHA:1423
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Abnormal carpal morphology, Hypoplasi...	ORPHA:85166
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Pes planus, Thick eyebrow, Congenital hip dislocation, Tapered finger, Micrognathia, Hypoplasia o...	OMIM:616007
Pseudoaminopterin Syndrome	Single transverse palmar crease, Limited elbow movement, Micrognathia, Synostosis of carpal bones...	ORPHA:221120
Bardet-Biedl Syndrome 3	Obesity, Postaxial polydactyly, Brachydactyly	OMIM:600151
Focal Dermal Hypoplasia	Congenital hip dislocation, Brittle hair, Congenital diaphragmatic hernia, Osteopathia striata, S...	OMIM:305600
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Early ossification of capital femoral epiphyses, Cone-shaped epiphyses of...	OMIM:208500
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly	Inguinal hernia, Rhizomelia, Supernumerary nipple, Short iliac bones, Metaphyseal widening, Short...	OMIM:614376
Fibrochondrogenesis	Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior...	ORPHA:2021
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Inguinal hernia, Sacral dimple, Micrognathi...	OMIM:615546
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Polydactyly, Macrocephaly, Complete duplication of thumb ph...	ORPHA:59315
Monosomy 18P	Alopecia, Kyphoscoliosis, Micrognathia, Microcephaly, Short neck, Low posterior hairline, Webbed ...	ORPHA:1598
Bartsocas-Papas Syndrome 1	Micrognathia, Short neck, Flexion contracture, Hypoplastic iliac wing, Short phalanx of finger, S...	OMIM:263650
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Omphalocele, Relative macrocephaly, Broad hallux, Sandal gap, Micrognathia, Mesom...	OMIM:618529
Trisomy 9P	Sacral dimple, Bilateral single transverse palmar creases, Microcephaly, Short neck, Kyphosis, Sc...	ORPHA:236
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Single transverse palmar crease, Highly arched eyebrow, Microcephaly, Synophrys, Vert...	OMIM:614701
Holt-Oram Syndrome	Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormality of the humerus, Kyphosis, Sp...	ORPHA:392
Van Maldergem Syndrome 1	Short fourth metatarsal, Sacral dimple, Micrognathia, Wide anterior fontanel, Abnormal foot morph...	OMIM:601390
Mohr Syndrome	Syndactyly, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metaphysi...	OMIM:252100
Smith-Magenis Syndrome	Pes planus, Synophrys, Broad palm, Increased body weight, Scoliosis, Short palm, Abnormal forearm...	OMIM:182290
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Micrognathia, Microcephaly, Flexion contracture, Macrocephaly, Short foot, Talipes calcaneovarus,...	OMIM:300534
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ...	ORPHA:2256
Trichorhinophalangeal Syndrome Type 2	Sparse scalp hair, Bilateral single transverse palmar creases, Talipes, Microcephaly, Avascular n...	ORPHA:502
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Sparse scalp hair, Arachnodactyly, Micrognathia, Cone-shaped epiphysis, Palmoplantar keratoderma,...	ORPHA:2824
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Micrognathia, Frontote...	OMIM:263210
Roberts-Sc Phocomelia Syndrome	Micrognathia, Short neck, Tetraphocomelia, Knee flexion contracture, Sparse hair, Phocomelia, Wri...	OMIM:268300
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Abnormal epiphysis morphology, Short distal phalanx of finge...	ORPHA:1784
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Thick eyebrow, Sandal gap, Single transverse palmar crease, Tapered finger, Mic...	OMIM:617061
Say Syndrome	Ulnar deviation of the 3rd finger, Microcephaly, Micrognathia, Tapered finger, Short distal phala...	OMIM:181180
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Bilateral single transverse palmar creases, Camptodactyly of finger, Highly arched eyebrow, Micro...	ORPHA:2083
Bardet-Biedl Syndrome 17	Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda...	OMIM:615994
Progeroid Syndrome, Petty Type	Reduced subcutaneous adipose tissue, Brittle hair, Lipoatrophy, Abnormal hair morphology, Wide an...	ORPHA:2963
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy	Fused cervical vertebrae, Thoracic hemivertebrae, Short middle phalanx of finger, Scoliosis	OMIM:309620
Laron Syndrome	Micrognathia, Short toe, Abnormality of the elbow, Truncal obesity, Brachydactyly	ORPHA:633
Tonne-Kalscheuer Syndrome	Pes planus, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Fine hair, Broad thumb, ...	OMIM:300978
Cantú Syndrome	Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Curly ...	ORPHA:1517
Acropectorovertebral Dysplasia	Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Triphalangeal thumb, Synostosis of...	ORPHA:957
Geleophysic Dysplasia 1	Short palm, Camptodactyly of finger, Coxa valga, Short foot, Short long bone, Irregular capital f...	OMIM:231050
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of the 4th finger, Short 5th fing...	ORPHA:485405
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Abnormal hand morphology, Small hand, Premature graying of hair, Broad finger, Short phalanx of f...	OMIM:300845
Feingold Syndrome	Hallux valgus, Toe syndactyly, Micrognathia, Microcephaly, Deviation of the 2nd finger, Abnormal ...	ORPHA:1305
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Synophrys, Genu valgum, Abnormal metacarpal morphology, Short distal phalanx of fi...	ORPHA:1295
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thick hair, Micrognathia, Synophrys, Hypertrichosis, Hip dysplasia, Long eyelashes, Horizontal ey...	OMIM:618381
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Foot oligodacty...	OMIM:276820
Pseudohypoparathyroidism Type 1A	Short metacarpal, Short fifth metatarsal, Short neck, Broad 1st metacarpal, Short metatarsal, Obe...	ORPHA:79443
Al-Raqad Syndrome	Microcephaly, Sandal gap, Brachydactyly	OMIM:616459
Short Stature-Wormian Bones-Dextrocardia Syndrome	Long eyelashes, Micrognathia, Camptodactyly of finger, Brachydactyly	ORPHA:2863
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Micrognathia, Slender long bone, Decreased body weight, Arthrogryposis multiplex congenita, Brach...	OMIM:618265
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Sacral dimple, Kyphoscoliosis, Micrognathia, Partial duplication of thumb phalanx,...	OMIM:616331
Cleidocranial Dysplasia 2	Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v...	OMIM:620099
Acrocraniofacial Dysostosis	Tapered finger, Coxa valga, Micrognathia, Microcephaly, Abnormal form of the vertebral bodies, Ul...	ORPHA:949
Inverted Duplicated Chromosome 15 Syndrome	Microcephaly, Synophrys, 2-3 toe syndactyly, Talipes equinovarus, Hernia, Clinodactyly of the 5th...	ORPHA:3306
Chondrodysplasia Punctata 1, X-Linked Recessive	Epiphyseal stippling, Microcephaly, Abnormality of the vertebral column, Short distal phalanx of ...	OMIM:302950
Distal Deletion 10Q	Pes planus, Scapular winging, Failure to thrive, Sandal gap, Single transverse palmar crease, Lum...	ORPHA:96148
Specific Granule Deficiency 2	Brachydactyly, Sandal gap, Failure to thrive, Hirsutism, Amelogenesis imperfecta	OMIM:617475
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Short neck, Knee flex...	ORPHA:3103
Chromosome 8Q21.11 Deletion Syndrome	Syndactyly, Short metacarpal, Micrognathia, Short neck, Camptodactyly, Absent palmar crease	OMIM:614230
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Shor...	OMIM:224400
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Inguinal hernia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Small thenar eminence, Joint contr...	OMIM:618914
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Single...	OMIM:303600
Progressive Osseous Heteroplasia	Brachydactyly	ORPHA:2762
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Microcephaly, F...	ORPHA:1865
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Inguinal hernia, Micrognathia, Wide anterior fontanel, Short toe, Atrophic scars, Limb undergrowt...	OMIM:225410
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Inguinal hernia, Microcephaly, Symphalangism affecting the phalanges of the hand, Biparietal narr...	ORPHA:1292
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Bilateral single transverse palmar creases, Abnormal hair pattern, Large hands, Biparietal narrow...	ORPHA:1770
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Small for gestational age, Tibial bowing, Abnormal pelvic ...	OMIM:166210
Cousin Syndrome	Micrognathia, Short neck, Prominent protruding coccyx, Low anterior hairline, Hypoplastic iliac w...	OMIM:260660
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Absent nipple, Congenital diaphragm...	OMIM:200980
Seckel Syndrome 1	Ivory epiphyses, 11 pairs of ribs, Pes planus, Sandal gap, Abnormal finger flexion crease, Single...	OMIM:210600
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Sacral dimple, Short hallux, Proximal placemen...	ORPHA:2438
Weill-Marchesani Syndrome	Short thumb, Brachydactyly	ORPHA:3449
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Sacral dimple, Eczema, Microcephaly, Short neck, Short metatarsal, Obesity, Spa...	OMIM:617157
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Patchy hypopigmentation of hair, Micrognathia, Absent radius, Pr...	ORPHA:233
Adams-Oliver Syndrome	Finger syndactyly, Brachydactyly, Alopecia, Talipes, Abnormality of the lower limb, Absent toe, S...	ORPHA:974
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia...	ORPHA:3035
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Short neck, Drumstick terminal phalanges, Secondary microcephaly, Umbilical hernia, Failure to th...	OMIM:612938
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Proximal placement of thumb, Micrognathia, Microcephaly, Wide anterior fontanel, Shor...	OMIM:217980
Pycnodysostosis	Rhizomelia, Micrognathia, Hypoplastic iliac wing, Overweight, Acromelia, Lower limb asymmetry, Sm...	ORPHA:763
Short Fifth Metacarpals-Insulin Resistance Syndrome	Short 5th metacarpal	ORPHA:66518
Congenital Disorder Of Glycosylation, Type Iig	Thoracic scoliosis, Single transverse palmar crease, Micrognathia, Short neck, Vertebral segmenta...	OMIM:611209
Fibular Dimelia-Diplopodia Syndrome	Absent tibia, Sacrococcygeal teratoma	ORPHA:1757
Ritscher-Schinzel Syndrome 2	Relative macrocephaly, Syndactyly, Broad hallux, Overlapping toe, Camptodactyly of finger, Wide a...	OMIM:300963
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Microretrognathia, Bowing of the long bones, Rhizomelia, Small for gestational...	OMIM:616229
Distal Duplication 5Q	Hypoplasia of the ulna, Eczema, Micrognathia, Absent thumb, Microcephaly, Hypoplasia of the radiu...	ORPHA:96097
Campomelic Dysplasia	11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ...	ORPHA:140
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
14Q24.1Q24.3 Microdeletion Syndrome	Limited elbow extension and supination, Short thumb, Synophrys, Dislocated radial head, Brachydac...	ORPHA:401935
Acrofrontofacionasal Dysostosis 1	Short metacarpal, Long eyebrows, Widow's peak, Long eyelashes, Acetabular dysplasia, Broad thumb,...	OMIM:201180
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Abnormal hair p...	ORPHA:794
Mucolipidosis Iii Alpha/Beta	Soft tissue swelling of interphalangeal joints, Increased serum beta-hexosaminidase, Irregular ca...	OMIM:252600
Trisomy 20P	Micrognathia, Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Coarse ha...	ORPHA:261318
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Single transverse palmar crease, Micrognathia, Camptodactyly, Clinodactyly, Brachydactyly	OMIM:613604
Smith-Magenis Syndrome	Pes planus, Toe syndactyly, Failure to thrive in infancy, Micrognathia, Microcephaly, Synophrys, ...	ORPHA:819
Coffin-Siris Syndrome 6	Clinodactyly, Micrognathia, Kyphoscoliosis, Brachydactyly	OMIM:617808
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Microcephaly, Coxa vara, Fine hair, Narrow pelvis bone, Truncal obesity, Abnormal epi...	ORPHA:2637
Arteriosclerosis, Severe Juvenile	Hip dysplasia, Dysplasia of second lumbar vertebra, Short phalanx of finger	OMIM:208060
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Single transverse palmar crease, Proximal placement of thumb, Limited elbow movement, Micrognathi...	OMIM:610759
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Hip contracture, Brachydactyly, Overlapping toe, Rocker bottom foot, Kyphoscol...	ORPHA:488642
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Micrognathia, Short neck, Brachydactyly	ORPHA:436245
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Webbed neck, Microcephaly, Short distal phalanx of finger	OMIM:601355
Cardioacrofacial Dysplasia 2	Recurrent patellar dislocation, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot...	OMIM:619143
Peters-Plus Syndrome	Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Micrognathi...	OMIM:261540
Floating-Harbor Syndrome	Short neck, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short 5th met...	OMIM:136140
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Brittle hair, Microcephaly, Short long bone, Scoliosis, Short palm, Enamel hypo...	OMIM:619184
Radio-Tartaglia Syndrome	Pes planus, Thick eyebrow, Highly arched eyebrow, Micrognathia, Tapered finger, Long eyebrows, Sy...	OMIM:619312
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Hypoplas...	OMIM:119600
Bent Bone Dysplasia Syndrome 1	Bent long bone, Micrognathia, Hypoplastic pubic bone, Short clavicles, Hirsutism, Brachydactyly	OMIM:614592
Multiple Synostoses Syndrome 4	Pes planus, Overlapping toe, Tarsal synostosis, Broad foot, Brachydactyly	OMIM:617898
3C Syndrome	Finger syndactyly, Inguinal hernia, Micrognathia, Missing ribs, Short neck, Kyphosis, Hemivertebr...	ORPHA:7
Short-Rib Thoracic Dysplasia 12	Omphalocele, Inguinal hernia, Hypoplastic scapulae, Bowing of the legs, Short neck, Short toe, Br...	OMIM:269860
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, M...	ORPHA:570
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Microcephaly, Micrognathia, Kyphosis, Postaxial hand polydactyly...	ORPHA:2075
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Broad long bones, Short tubular bones of...	OMIM:200610
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Sacral dimple, Failure to thrive in infancy, Microcepha...	ORPHA:261323
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Microcephaly, Short long bone, Talipes equino...	OMIM:224410
Temtamy Syndrome	Pes planus, Highly arched eyebrow, Micrognathia, Hip dislocation, Short 2nd toe, Talipes equinova...	OMIM:218340
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Ulnar deviation of the wrist, Eczema, Elbow contracture, 2-3 toe syndactyly, Knee fle...	OMIM:618162
Pallister-Hall Syndrome	Syndactyly, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, Postaxial han...	OMIM:146510
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Kyphosis, Tibial bowing, Slender long ...	OMIM:259420
Infantile Systemic Hyalinosis	Camptodactyly of finger, Micromelia, Short neck, Macrocephaly, Short palm, Failure to thrive, Bra...	ORPHA:2176
Stapes Ankylosis With Broad Thumbs And Toes	Toe syndactyly, Broad hallux, Proximal/middle symphalangism of 5th finger, Fused cervical vertebr...	OMIM:184460
Pycnodysostosis	Aplastic clavicle, Micrognathia, Absent frontal sinuses, Osteolytic defects of the distal phalang...	OMIM:265800
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion...	OMIM:618022
Rhyns Syndrome	Short long bone, Radial bowing, Short femoral neck, Brachydactyly	OMIM:602152
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Enamel hypomineralization, Spinal canal stenosi...	OMIM:307800
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Short neck, Fi...	OMIM:614800
Oculodentodigital Dysplasia	Brittle hair, Micrognathia, Abnormal form of the vertebral bodies, Sparse hair, Clinodactyly of t...	ORPHA:2710
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Multiple joint contractures, Short neck, Metaphyseal widening, Irregular vertebral endplates, Met...	ORPHA:99646
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Low anterior hairlin...	ORPHA:235
Myhre Syndrome	Short neck, Hypoplastic iliac wing, Sparse hair, Vertebral fusion, Short toe, 2-3 toe syndactyly,...	OMIM:139210
Progeria-Short Stature-Pigmented Nevi Syndrome	Alopecia, Multiple joint contractures, Small for gestational age, Lack of facial subcutaneous fat...	ORPHA:2959
Weill-Marchesani Syndrome 3	Brachydactyly	OMIM:614819
Craniofrontonasal Syndrome	Curly hair, Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hernia...	OMIM:304110
Rin2 Syndrome	Pes planus, Sparse scalp hair, Scoliosis, Umbilical hernia, Hirsutism, Brachydactyly	ORPHA:217335
Adams-Oliver Syndrome 6	Syndactyly, Foot oligodactyly, Brachydactyly	OMIM:616589
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Abnormal acetabulum morphology, Postaxial polydactyly, Micrognat...	ORPHA:397715
Short Syndrome	Alopecia, Inguinal hernia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Short p...	ORPHA:3163
Orofaciodigital Syndrome Type 6	Syndactyly, Mesoaxial polydactyly, Highly arched eyebrow, Micrognathia, Central Y-shaped metacarp...	ORPHA:2754
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Patchy alopecia, Broad distal phalanx of finger, Sparse hair, Broad thumb, Brachydactyly	OMIM:617763
Autosomal Recessive Robinow Syndrome	Micrognathia, Short neck, Vertebral segmentation defect, Clinodactyly of the 5th finger, Bilatera...	ORPHA:1507
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Relative macrocephaly, Neuropathic spinal arthropathy, Kyphoscoliosis, Talipes equinovarus, Campt...	ORPHA:397709
Macs Syndrome	Pes planus, Alopecia, Single transverse palmar crease, Micrognathia, Sparse eyebrow, Macrocephaly...	OMIM:613075
Alg8-Cdg	Abnormality of subcutaneous fat tissue, Small for gestational age, Talipes equinovarus, Camptodac...	ORPHA:79325
Radio-Renal Syndrome	Micromelia, Micrognathia, Short neck, Hypoplasia of the radius, Abnormality of the elbow, Abnorma...	ORPHA:3015
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Abnormal finger mo...	ORPHA:2636
Intellectual Developmental Disorder, Autosomal Recessive 78	Microretrognathia, Kyphoscoliosis, Microcephaly, Clinodactyly of the 5th finger, Cubitus valgus, ...	OMIM:620237
Osteogenesis Imperfecta, Type Xvii	Bowed humerus, Thin long bone diaphyses, Kyphoscoliosis, Hip dislocation, Platyspondyly, Vertebra...	OMIM:616507
Holoprosencephaly, Semilobar, With Craniosynostosis	Hypoplastic vertebral bodies, Short distal phalanx of finger, Coxa valga	OMIM:601370
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Broad skull, Broad palm, Spinal canal stenosis, Scoliosis, Broad phalanges ...	OMIM:277600
Nance-Horan Syndrome	Short phalanx of finger, Broad finger	OMIM:302350
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Bowed humerus, Micrognathia, Bilateral talipes equinovarus, Broa...	OMIM:609465
Geroderma Osteodysplasticum	Beaking of vertebral bodies, Hyperextensibility of the finger joints, Kyphoscoliosis, Microcephal...	OMIM:231070
Ablepharon-Macrostomia Syndrome	Ventral hernia, Absent eyebrow, Short metacarpal, Toe syndactyly, Omphalocele, Absent eyelashes, ...	OMIM:200110
Mucolipidosis Ii Alpha/Beta	Brittle hair, Increased serum beta-hexosaminidase, Micrognathia, Metaphyseal widening, Sparse hai...	OMIM:252500
Dahlberg-Borer-Newcomer Syndrome	Brachydactyly, Generalized hirsutism, Short distal phalanx of finger	ORPHA:1563
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Sacral dimple, Ankle clonus, Scoliosis, Pes valgus, Brachydactyly	OMIM:619995
Tibial Hemimelia	Absent tibia	OMIM:275220
Gracile Bone Dysplasia	Slender long bone, Failure to thrive, Flared metaphysis, Brachydactyly	OMIM:602361
Hypoglossia-Hypodactyly Syndrome	Finger syndactyly, Brachydactyly, Micrognathia, Adactyly, Split hand, Aplasia/Hypoplasia of finge...	ORPHA:989
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Short neck, Synophrys, Low anterior hairline, Coarse hair, ...	ORPHA:955
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Clubbing of toes, Brachydactyly	ORPHA:1318
Bardet-Biedl Syndrome 1	Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Obesity, Postaxial foot polydactyl...	OMIM:209900
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short neck, Short palm, Duplication of the distal phalanx of hand, Dislocated radia...	OMIM:180700
Cranioectodermal Dysplasia 3	Rhizomelia, Sandal gap, Postaxial polydactyly, Micrognathia, 2-4 toe syndactyly, Short nail, 2-3 ...	OMIM:614099
14Q22Q23 Microdeletion Syndrome	Finger syndactyly, Toe syndactyly, Micrognathia, Short foot, Short palm, Clinodactyly of the 5th ...	ORPHA:264200
Kabuki Syndrome 2	Highly arched eyebrow, Micrognathia, Microcephaly, Hip dislocation, Short 5th finger, Long eyelas...	OMIM:300867
Lenz-Majewski Hyperostotic Dwarfism	Relative macrocephaly, Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Fail...	OMIM:151050
Cardiofacioneurodevelopmental Syndrome	Microcephaly, Micrognathia, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly	OMIM:619123
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Corneodermatoosseous Syndrome	Abnormal dental enamel morphology, Abnormality of the hand, Abnormal finger morphology, Palmoplan...	ORPHA:3194
Otopalatodigital Syndrome Type 2	Omphalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodactyly of finger, ...	ORPHA:90652
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Camptodactyly of finger, Abnormality of the humerus, Postaxial...	ORPHA:3138
Frontorhiny	Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of finger, Widow's peak, Hypoplastic fro...	ORPHA:391474
Intellectual Developmental Disorder, Autosomal Dominant 57	Pes planus, Brachydactyly, Microcephaly, Kyphosis, Contracture of the proximal interphalangeal jo...	OMIM:618050
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Talipes, Micromelia, Aplasia of the ulna, Micrognathia, ...	ORPHA:2879
Osteogenesis Imperfecta, Type X	Relative macrocephaly, Bowing of the long bones, Short femur, Rhizomelia, Inguinal hernia, Microm...	OMIM:613848
Marbach-Schaaf Neurodevelopmental Syndrome	Brachydactyly, Microcephaly, Obesity, Tapered finger	OMIM:619680
Endocrine-Cerebroosteodysplasia	Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma...	OMIM:612651
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Broad thumb, Brachydactyly	OMIM:614526
Floating-Harbor Syndrome	11 pairs of ribs, Short metacarpal, Brachydactyly, Small for gestational age, Kyphoscoliosis, Sho...	ORPHA:2044
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Short neck, Hemivertebrae, Coxa vara, Abnormal form of the vertebral bo...	ORPHA:3107
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Brachydactyly, Cachexia, Short palm	ORPHA:3217
Chitayat Syndrome	Hallux valgus, Brachydactyly	OMIM:617180
White-Sutton Syndrome	Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Short neck, Obesity, Hypoplastic cer...	OMIM:616364
Okur-Chung Neurodevelopmental Syndrome	Inguinal hernia, Broad hallux, Single transverse palmar crease, Highly arched eyebrow, Micrognath...	OMIM:617062
Carey-Fineman-Ziter Syndrome	Micrognathia, Microcephaly, Aplasia of the pectoralis major muscle, Ulnar deviation of finger, Ta...	ORPHA:1358
Coffin-Siris Syndrome 7	Clinodactyly of the 5th finger, Sparse scalp hair, Thick eyebrow, Brachydactyly	OMIM:618027
You-Hoover-Fong Syndrome	Clinodactyly, Microcephaly, Kyphoscoliosis, Brachydactyly	OMIM:616954
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Relative macrocephaly, Syndactyly, Narrow joint spaces of the elbow, Small for gestational age, M...	ORPHA:96182
Lenz-Majewski Hyperostotic Dwarfism	Finger syndactyly, Inguinal hernia, Femoral hernia, Abnormal dental enamel morphology, Aplastic c...	ORPHA:2658
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome	Finger syndactyly, Toe syndactyly, Elbow dislocation, Aplasia/Hypoplasia of the phalanges of the ...	ORPHA:1112
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, Abnormal morphology of ulna...	ORPHA:1328
Trichorhinophalangeal Syndrome, Type Ii	Syndactyly, Short metacarpal, Scapular winging, Sparse scalp hair, Single transverse palmar creas...	OMIM:150230
Down Syndrome	Sandal gap, Bilateral single transverse palmar creases, Short neck, Obesity, Sparse hair, Clinoda...	ORPHA:870
Pyknoachondrogenesis	Micromelia, Short iliac bones, Abnormal iliac wing morphology, Poorly ossified vertebrae, Short l...	ORPHA:3003
Cinca Syndrome	Macrocephaly, Elevated circulating C-reactive protein concentration, Brachydactyly	ORPHA:1451
Acrocallosal Syndrome	Microretrognathia, Finger syndactyly, Inguinal hernia, Toe syndactyly, Duplication of thumb phala...	OMIM:200990
Lymphedema-Hypoparathyroidism Syndrome	Hypertrichosis, Increased carrying angle, Brachydactyly	OMIM:247410
Fgfr2-Related Bent Bone Dysplasia	Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the lower limb, Hirsutism, S...	ORPHA:313855
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Micrognathia, Short neck, Synophrys, Congenital contracture, Brachydactyly	OMIM:620156
Hydrolethalus Syndrome 1	Omphalocele, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ...	OMIM:236680
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Small for gestational age, Kyphoscoliosis, B...	ORPHA:97360
Kleefstra Syndrome 1	Single transverse palmar crease, Microcephaly, Synophrys, Obesity, Talipes equinovarus, Brachydac...	OMIM:610253
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micrognathia, Microcephaly, Short neck, Webbe...	ORPHA:1587
Turner Syndrome Due To Structural X Chromosome Anomalies	Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of ...	ORPHA:99413
Mosaic Monosomy X	Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of ...	ORPHA:99228
Monosomy X	Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of ...	ORPHA:99226
Turner Syndrome	Micrognathia, Short neck, Dermatoglyphic ridges abnormal, Short 5th metacarpal, Hypermobility of ...	ORPHA:881
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Obesity, Long eyelashes, Broad lateral eyebrow, Brachydactyly	OMIM:608624
Osteopathia Striata With Cranial Sclerosis	Omphalocele, Failure to thrive, Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Thoraco...	OMIM:300373
Metaphyseal Chondrodysplasia, Jansen Type	Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia, Knee flexi...	OMIM:156400
Prader-Willi Syndrome Due To Translocation	Pes planus, Hypopigmentation of hair, Overlapping toe, Micrognathia, Microcephaly, Short neck, Sm...	ORPHA:177907
Craniosynostosis With Fibular Aplasia	Single transverse palmar crease, Fibular aplasia	OMIM:218550
Chops Syndrome	Curly hair, Thick hair, Microcephaly, Synophrys, Obesity, Coarse hair, Long eyelashes, Cervical C...	OMIM:616368
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Brachydactyly, Sandal gap, Broad hallux, Scarring alopecia of scalp, Clinodactyly, Enamel hypopla...	OMIM:618727
Lethal Congenital Contracture Syndrome 10	Omphalocele, Thoracic scoliosis, Micrognathia, Short neck, Femoral bowing, Short long bone, Talip...	OMIM:617022
Acromelic Frontonasal Dysplasia	Midline central nervous system lipomas, Patellar hypoplasia, Talipes equinovarus, Preaxial foot p...	ORPHA:1827
Gm1 Gangliosidosis Type 1	Hypoplastic vertebral bodies, Flared iliac wing, Short long bone, Platyspondyly, Abnormal odontoi...	ORPHA:79255
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Tapered finger, Finger clinodactyly, Long eyelashes, Scoliosis, Camptodactyly...	OMIM:601353
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Microcephaly, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of ...	ORPHA:85165
Craniofacioskeletal Syndrome	Pes planus, Micrognathia, Microcephaly, Hypoplastic frontal sinuses, Small hand, Short foot, Shor...	OMIM:300712
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Limited elbow movement, Limited wrist movement, Short foot, Limb undergrowt...	OMIM:617809
Pallister-Hall Syndrome	Large for gestational age, Hemivertebrae, Microretrognathia, Mesoaxial polydactyly, Radial bowing...	ORPHA:672
Kinsship Syndrome	Pes planus, Sacral dimple, Single transverse palmar crease, Coxa valga, Micrognathia, Microcephal...	OMIM:619297
Kindler Epidermolysis Bullosa	Finger syndactyly, Recurrent skin infections, Camptodactyly of finger, Abnormal dental enamel mor...	ORPHA:2908
45,X/46,Xy Mixed Gonadal Dysgenesis	Hallux valgus, Micrognathia, Short metatarsal, Obesity, Low posterior hairline, Scoliosis, Webbed...	ORPHA:1772
15q26 overgrowth syndrome	Long toe, Arachnodactyly, Camptodactyly of finger, Tapered finger, Abnormal toe morphology, Micro...	DECIPHER:81
Mgat2-Cdg	Kyphosis, Progressive microcephaly, Long eyelashes, Hypoplastic nipples, Scoliosis, Failure to th...	ORPHA:79329
Adnp Syndrome	Sparse scalp hair, Inguinal hernia, Broad hallux, Single transverse palmar crease, Sandal gap, Mi...	ORPHA:404448
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microcephaly, Aplasia of the distal phalanx of the 5th toe, Synophrys, Aplasia of the distal phal...	ORPHA:364577
Myhre Syndrome	Brachydactyly, Inguinal hernia, Femoral hernia, Platyspondyly, Abnormal epiphysis morphology, Sho...	ORPHA:2588
Adams-Oliver Syndrome 5	Syndactyly, Inguinal hernia, Umbilical hernia, Dystrophic toenail, Brachydactyly	OMIM:616028
Distal Deletion 9P	Short neck, Hernia, Brachydactyly	ORPHA:1642
Raine Syndrome	Bowing of the long bones, Micromelia, Micrognathia, Highly arched eyebrow, Microcephaly, Short ne...	OMIM:259775
Trisomy 8Q	Camptodactyly of finger, Micrognathia, Short neck, Deep palmar crease, Brachydactyly	ORPHA:1752
Carpenter Syndrome 2	Single transverse palmar crease, Short neck, Preaxial polydactyly, Low anterior hairline, Coxa va...	OMIM:614976
Mckusick-Kaufman Syndrome	Finger syndactyly, Tarsal synostosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Abn...	ORPHA:2473
Grange Syndrome	Finger clinodactyly, Syndactyly, Decreased body weight, Brachydactyly	OMIM:602531
Genitopatellar Syndrome	Hip contracture, Sparse scalp hair, Congenital hip dislocation, Micrognathia, Microcephaly, Patel...	OMIM:606170
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Micrognathia, Congenital diaphragmatic hernia, Short neck, Talipes c...	ORPHA:818
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Overlapping toe, Small for gestational age, Tapered finger, Micrognathia, Microcephaly, Flexion c...	OMIM:309590
Toriello-Lacassie-Droste Syndrome	Macrocephaly, Brachydactyly, Failure to thrive, Short palm	ORPHA:3339
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Shor...	OMIM:225500
Meester-Loeys Syndrome	Relative macrocephaly, Pes planus, Arachnodactyly, Hypertrichosis, Cervical spine instability, Br...	OMIM:300989
Orofaciodigital Syndrome Type 1	Finger syndactyly, Alopecia, Brittle hair, Tarsal synostosis, Abnormal dental enamel morphology, ...	ORPHA:2750
Alg12-Cdg	Ulnar deviation of the wrist, Sandal gap, Proximal placement of thumb, Micrognathia, Long fingers...	ORPHA:79324
Jacobsen Syndrome	Micrognathia, Missing ribs, Abnormal eyelash morphology, Microcephaly, Flexion contracture, Short...	OMIM:147791
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Congeni...	OMIM:601803
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Macrocephaly at birth, Pes cavus, Proportionate shortening of all digits, Elev...	ORPHA:280633
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Dry hair, Hypopigmentation of hair, Down-sloping shoulders, Micrognathia, Wido...	ORPHA:1974
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Microcephaly, Brachydactyly	ORPHA:457193
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Sparse scalp hair, Supernumerary nipple, Tapered finger, Sparse eyebrow, Short thumb, Synophrys, ...	ORPHA:477993
Craniosynostosis 2	Triphalangeal thumb, Brachydactyly	OMIM:604757
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Thick hair, Highly arched eyebrow, Micrognathia, Microcephaly, Synophrys, Small hand,...	ORPHA:444077
Cog1-Cdg	Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Micrognathia, Short nec...	ORPHA:263508
Orofaciodigital Syndrome Xix	Toe syndactyly, Broad hallux, Type A brachydactyly, Postaxial hand polydactyly, Low posterior hai...	OMIM:620107
Orofaciodigital Syndrome Type 4	Finger syndactyly, Camptodactyly of finger, Micromelia, Micrognathia, Microcephaly, Preaxial hand...	ORPHA:2753
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Pes planus, Thick eyebrow, Single transverse palmar crease, Synophrys, Obesity, Truncal obesity, ...	ORPHA:466950
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Inguinal hernia, Highly arched eyebrow, Broad 2nd toe, Large for gestational age, Long foot, Palm...	OMIM:280000
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Single transverse palmar crease, Micrognathia, Short neck, Synophrys, Clinodactyly of the 5th fin...	OMIM:612474
Toriello-Carey Syndrome	Micrognathia, Sparse eyebrow, Wide anterior fontanel, Microcephaly, Short neck, Clinodactyly, Bra...	ORPHA:3338
Developmental And Epileptic Encephalopathy 100	Single transverse palmar crease, Micrognathia, Bilateral camptodactyly, Synophrys, Elbow flexion ...	OMIM:619777
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality o...	ORPHA:3186
Hereditary Cryohydrocytosis With Reduced Stomatin	Macrocephaly, Microcephaly, Short neck, Brachydactyly	ORPHA:168577
Noonan Syndrome	Abnormal hair quantity, Micrognathia, Low posterior hairline, Radioulnar synostosis, Coarse hair,...	ORPHA:648
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Syndactyly, Supernumerary nipple, Sparse eyebrow, Aplasia/Hypoplasia involving bones of the skull...	ORPHA:1521
Holoprosencephaly	Omphalocele, Failure to thrive in infancy, Talipes, Highly arched eyebrow, Congenital diaphragmat...	ORPHA:2162
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Cone-shaped epiphys...	OMIM:617088
Pgm3-Cdg	Brachydactyly, Recurrent skin infections, Eczema, Decreased/absent ankle reflexes, Atopic dermati...	ORPHA:443811
Orofaciodigital Syndrome I	Microretrognathia, Syndactyly, Dry hair, Alopecia, Microcephaly, Short 2nd toe, Polydactyly, Radi...	OMIM:311200
Witteveen-Kolk Syndrome	Proximal placement of thumb, Congenital diaphragmatic hernia, Clinodactyly, Short palm, Clinodact...	OMIM:613406
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Arboleda-Tham Syndrome	Microretrognathia, Pes planus, Brachydactyly, Sandal gap, Deviation of the hallux, Short hallux, ...	OMIM:616268
Cardiospondylocarpofacial Syndrome	Tarsal synostosis, Congenital diaphragmatic hernia, Cone-shaped epiphysis, Short foot, Pseudoepip...	OMIM:157800
Maternal Phenylketonuria	Microcephaly, Micrognathia, Bifid distal phalanx of the thumb, Clinodactyly, Brachydactyly	ORPHA:2209
Charge Syndrome	Omphalocele, Hypoplasia of the ulna, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Mic...	OMIM:214800
Down Syndrome	Sandal gap, Single transverse palmar crease, Hypoplastic iliac wing, Atlantoaxial instability, Br...	OMIM:190685
Cranioectodermal Dysplasia 2	Syndactyly, Inguinal hernia, Rhizomelia, Sparse eyelashes, Micrognathia, Sparse eyebrow, Short ne...	OMIM:613610
Weill-Marchesani Syndrome 4	Brachydactyly	OMIM:613195
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte...	OMIM:216340
Hyperparathyroidism, Transient Neonatal	Inguinal hernia, Short femur, Metaphyseal spurs, Femoral bowing, Short long bone, Short ribs, Fra...	OMIM:618188
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Microcephaly, Flexion contracture, Talipes equinovarus, Clinodactyly of the 5th finger, Brachydac...	ORPHA:847
Chime Syndrome	Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocation, Clubbing of ...	ORPHA:3474
Alg9-Cdg	Microretrognathia, Omphalocele, Ulnar deviation of the hand, Rhizomelia, Lipodystrophy, Micrognat...	ORPHA:79328
Orthostatic Hypotension 1	Brachydactyly	OMIM:223360
Cowden Syndrome	Kyphosis, Palmoplantar keratoderma, Scoliosis, Macrocephaly, Lipoma, Failure to thrive, Brachydac...	ORPHA:201
1P36 Deletion Syndrome	11 pairs of ribs, Abnormal eyebrow morphology, Camptodactyly of finger, Microcephaly, Lower limb ...	ORPHA:1606
Barber-Say Syndrome	Absent nipple, Sparse eyelashes, Lipodystrophy, Micrognathia, Sparse eyebrow, Low anterior hairli...	OMIM:209885
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Pes planus, Single transverse palmar crease, Synophrys, Obesity, Pes valgus, Short palm, Brachyda...	ORPHA:466943
Elsahy-Waters Syndrome	Synophrys, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, Cervical C2/C3 ve...	OMIM:211380
Noonan Syndrome 1	Failure to thrive in infancy, Kyphoscoliosis, Micrognathia, Short neck, Woolly hair, Low posterio...	OMIM:163950
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Widow's peak, Fin...	ORPHA:306542
Peters Plus Syndrome	Inguinal hernia, Toe syndactyly, Rhizomelia, Sacral dimple, Micromelia, Micrognathia, Microcephal...	ORPHA:709
Ayme-Gripp Syndrome	Sparse scalp hair, Tapered finger, Radioulnar synostosis, Nail dystrophy, Camptodactyly, Broad ey...	OMIM:601088
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Highly arched eyebrow, Short toe, Widow's peak, Clinodactyly of t...	ORPHA:1519
Loeys-Dietz Syndrome 2	Syndactyly, Inguinal hernia, Pes planus, Arachnodactyly, Protrusio acetabuli, Postaxial polydacty...	OMIM:610168
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Camptodactyly of finger, Microcephaly, Metatarsus adductus, Wide anterior fonta...	OMIM:607872
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit...	OMIM:607932
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Pes planus, Kyphoscoliosis, Tapered finger, Micrognathia, Microcephaly, Short neck, Obesity, Tali...	OMIM:309580
Craniosynostosis And Dental Anomalies	Hallux valgus, Broad hallux, 2-3 toe syndactyly, Clinodactyly, Short phalanx of finger	OMIM:614188
Adams-Oliver Syndrome 1	Alopecia, Toe syndactyly, Supernumerary nipple, Microcephaly, Talipes equinovarus, Brachydactyly	OMIM:100300
Charge Syndrome	Talipes, Highly arched eyebrow, Microcephaly, Abnormal tibia morphology, Hemivertebrae, Bifid fem...	ORPHA:138
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Macrocephaly, Obesity, Scoliosis, Brachydactyly	ORPHA:293987
Fraser Syndrome 1	Aplasia/Hypoplasia of the thumb, Absent eyebrow, Aplasia/Hypoplasia of the sternum, Microcephaly,...	OMIM:219000

Histopathology

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

There is no histopathology data for Adamts17

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Adamts17.

No publications found that use IMPC mice or data for Adamts17.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Adamts17^{tm42628(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Adamts17^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Adamts17^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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