Gene Summary

Name:
xylosyltransferase 1
Synonyms:
N/A

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Xylt1em1(IMPC)J HOM   Early adult 0.00
decreased thigmotaxis Xylt1em1(IMPC)J HET Early adult 8.75×10-05
abnormal behavior Xylt1em1(IMPC)J HET Early adult 8.75×10-05

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Viewing: all phenotypes

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.

Eye Morphology

Images Slit Lamp

1 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

Human diseases caused by Xylt1 mutations

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

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

The table below shows human diseases associated to Xylt1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Xylt1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Coxa Vara
Coxa vara OMIM:122750
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Metaphyseal Anadysplasia 2
Metaphyseal widening, Metaphyseal irregularity, Short femoral neck, Bowing of the legs OMIM:613073
Blount Disease, Infantile
Genu varum, Abnormality of the proximal tibial epiphysis OMIM:188700
Syndactyly Type 4
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... ORPHA:93405
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Short humerus, Short femur, Epiphyseal stippling OMIM:600121
Tibial Torsion, Bilateral Medial
Abnormality of tibia morphology, Tibial torsion, Bowing of the legs OMIM:188800
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of the tibia, E... ORPHA:1986
Rhizomelic Dysplasia, Ain-Naz Type
Hypoplasia of the femoral head, Rhizomelia, Wide distal femoral metaphysis, Hip dysplasia, Short ... OMIM:619598
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Pseudoarthrosis, Hypoplasia of the radius, Short tibia OMIM:156230
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Fibular aplasia, Tibial bowing, Hand oligodactyly, Syndactyly, Foot oligodactyly, Short tibia OMIM:246570
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Genu Valgum, St. Helena Familial
Genu valgum OMIM:137370
Acrocapitofemoral Dysplasia
Short middle phalanx of finger, Genu varum, Dysplasia of the femoral head, Cone-shaped epiphysis ... OMIM:607778
Acromesomelic Dysplasia 2A
Aplasia/Hypoplasia of the patella, Valgus hand deformity, Pes valgus, Aplasia/Hypoplasia of metat... OMIM:200700
Angioosteohypotrophic Syndrome
Abnormality of the hand, Upper limb undergrowth, Hypertrophy of the upper limb, Thin bony cortex,... ORPHA:75508
Acromesomelic Dysplasia 2C
Radial bowing, Shortening of all proximal phalanges of the fingers, Distal femoral bowing, Fibula... OMIM:201250
Chondrodysplasia, Blomstrand Type
Micrognathia, Generalized osteosclerosis, Malar flattening, Short ribs, Stillbirth, Advanced ossi... OMIM:215045
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Epiphyseal stippling, Short long bone, Limb undergrowth, Short 2nd metacarp... OMIM:118651
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Blount Disease
Tibial bowing, Abnormality of the proximal tibial epiphysis, Abnormality of the knee, Abnormality... ORPHA:2768
Tibial Hemimelia
Absent tibia OMIM:275220
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flared humeral metaphysis, Long coccyx, Short finger, Epi... OMIM:156530
Rhizomelic Chondrodysplasia Punctata, Type 2
Micrognathia, Depressed nasal bridge, Rhizomelia, Wide nasal bridge, Osteopenia, Stippled calcifi... OMIM:222765
Langer Mesomelic Dysplasia
Micrognathia, Radial bowing, Broad ulna, Hypoplasia of the radius, Mesomelia, Hypoplasia of the u... OMIM:249700
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Metaphyseal widening, Limb undergrowth, Short nose, Short ribs, Coarse me... OMIM:618961
Osebold-Remondini Syndrome
Tarsal synostosis, Broad finger, Broad toe, Fibular hypoplasia, Hypoplasia of the radius, Dysplas... OMIM:112910
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Tarsal synostosis, Micrognathia, Flat capital femoral epiphysis, Patellar aplasia, Hypoplasia of ... OMIM:147891
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Enlarged epiphyses, Metaphyseal dysplasia, Genu varum, Metaphyseal irregularity, Pseudoepiphyses ... OMIM:613330
Achondrogenesis, Type Ia
Short clavicles, Depressed nasal bridge, Hypoplastic scapulae, Abnormal hand bone ossification, S... OMIM:200600
Acromesomelic Dysplasia, Grebe Type
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... ORPHA:2098
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density
Absent ossification of cervical vertebral bodies, Neonatal death, Lytic defects of humeral diaphy... OMIM:601376
Metaphyseal Dysplasia, Braun-Tinschert Type
Exostoses of the ulna, Exostoses of the radius, Increased bone mineral density, Deformed humerus,... ORPHA:85188
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Fibula, Recurrent Dislocation Of Head Of
Abnormality of fibula morphology OMIM:135800
Metaphyseal Acroscyphodysplasia
Genu varum, Malar flattening, Short toe, Anteverted nares, Short humerus, Short phalanx of finger... OMIM:250215
Tibia, Absence Of, With Congenital Deafness
Absent tibia OMIM:275230
Acheiropody
Fibular aplasia, Aplasia of metacarpal bones, Aplasia of the tarsal bones, Carpal bone aplasia, A... OMIM:200500
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Abnormal foot morphology, Dislocated radial head, Hip dislocation, Talipes equin... OMIM:605274
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Absent tibia, Polydactyly OMIM:188740
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Upper limb undergrowth, Short ribs, Cupped ribs, Iliac crest serration... ORPHA:168549
Tibial Aplasia-Ectrodactyly Syndrome
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... ORPHA:3329
Acrodysostosis
Depressed nasal ridge, Abnormality of the ulna, Depressed nasal bridge, Cone-shaped epiphysis, Ep... ORPHA:950
Van Bogaert-Hozay Syndrome
Distal ulnar hypoplasia, Micrognathia, Depressed nasal bridge, Osteolytic defects of the phalange... OMIM:277150
Achondrogenesis Type 2
Delayed proximal femoral epiphyseal ossification, Delayed pubic bone ossification, Short ribs, Ab... ORPHA:93296
Spondyloepimetaphyseal Dysplasia, Shohat Type
Genu varum, Limb undergrowth, Metaphyseal irregularity, Short ribs, Delayed epiphyseal ossificati... OMIM:602557
Caffey Disease
Tibial bowing, Bowing of the legs, Periosteal thickening of long tubular bones, Cortical irregula... OMIM:114000
Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma
Mandibular prognathia, Large hands, Periostosis OMIM:102100
Achondrogenesis, Type Ib
Absent or minimally ossified vertebral bodies, Malar flattening, Short ribs, Stillbirth, Narrow c... OMIM:600972
Lethal Faciocardiomelic Dysplasia
Radial club hand, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sandal gap, Sho... ORPHA:1972
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Foot monodactyly, Bifid femur, Hand monodactyly, Absent tibia, Aplasia of the ulna, Split hand OMIM:228250
Ulnar Hypoplasia
Radial bowing, Ulnar deviation of the hand, Mesomelic arm shortening, Hypoplasia of the radius, D... OMIM:191440
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Metaphyseal cupping, Thin ribs, Limb undergrowth, Short ribs, Narrow chest, Hypoplastic ischia, H... OMIM:151210
Multiple Epiphyseal Dysplasia With Robin Phenotype
Irregular epiphyses, Micrognathia, Metatarsus adductus, Flat capital femoral epiphysis, Talipes e... OMIM:601560
Dyschondrosteosis And Nephritis
Radial bowing, Ulnar bowing, Short forearm, Short tibia OMIM:127350
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Flattened femoral head, Irregular epiphyses, Abnormal hip joint morphology, Arthralgia of the hip... ORPHA:1856
Eiken Syndrome
Limited elbow flexion, Broad palm, Abnormal acetabulum morphology, Thin bony cortex, Narrow pelvi... ORPHA:79106
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Patellar aplasia, Aplasia/Hypoplasia of the thumb, Synostosis of carpal bones, Abnormality of fib... ORPHA:988
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Long clavicles, Genu varum, Lateral clavicle hook, Phocomelia, Aplasia/Hypoplasia of the thumb, S... OMIM:171480
Schneckenbecken Dysplasia
Anterior rib cupping, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irregularity, Mala... OMIM:269250
Laurin-Sandrow Syndrome
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Broad fo... OMIM:135750
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Proximal femoral metaphyseal irregularity, Flat distal femoral epiphysis, Arthralgia of the hip, ... OMIM:609324
Omodysplasia 2
Limited elbow flexion, Depressed nasal bridge, Dislocated radial head, Hypoplastic distal humeri,... OMIM:164745
Rare Circulatory System Disease
Abnormal metatarsal morphology, Enlargement of the wrists, Abnormality of the elbow, Abnormality ... ORPHA:98028
Leri-Weill Dyschondrosteosis
Tibial bowing, Radial bowing, Abnormal metatarsal morphology, Fibular hypoplasia, Dorsal subluxat... OMIM:127300
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Mandibular prognathia, Rhizomelia, Wide nose, Short nose, Genu valgum, Dev... ORPHA:2831
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperostosis, Perios... ORPHA:1310
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Micrognathia, Hypoplastic scapulae, Talipes equinovarus, Rhizomelia, Scapulohumeral synostosis, M... OMIM:602471
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Fibular hypoplasia, Absent thumb, Hypoplasia of the ulna, Short... OMIM:612447
Prieto X-Linked Mental Retardation Syndrome
Prominent nose, Talipes equinovarus, Osteoporosis, Radial deviation of finger, 11 pairs of ribs, ... OMIM:309610
Hypoplastic Tibiae-Postaxial Polydactyly Syndrome
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... ORPHA:3332
Femur-Fibula-Ulna Complex
Abnormality of the ulna, Abnormality of femur morphology, Abnormality of the elbow, Aplasia/Hypop... ORPHA:2019
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Greenberg Dysplasia
Epiphyseal stippling, Neonatal death, Malar flattening, Short ribs, Abnormal bone structure, Supe... OMIM:215140
Léri-Weill Dyschondrosteosis
Abnormality of the ulna, Genu varum, Dorsal subluxation of ulna, Hypoplasia of the radius, Abnorm... ORPHA:240
Atelosteogenesis, Type I
Distal tapering femur, Talipes equinovarus, Short metatarsal, Neonatal death, Short nose, Malar f... OMIM:108720
Kyphomelic Dysplasia
Micrognathia, Anterior rib cupping, Lateral clavicle hook, Large hands, Bowing of the long bones,... ORPHA:1801
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/hypoplasia of the humerus, Abnormality of femur morphology, Abnormal scapula morphology, ... ORPHA:2141
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Thoracomelic Dysplasia
Diaphyseal thickening, Limb undergrowth, Abnormality of the metaphysis, Short ribs, Genu valgum, ... ORPHA:1803
Epiphyseal Dysplasia, Multiple, 7
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Advanced ossification of carpal bon... OMIM:617719
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Micrognathia, Adducted thumb, Decreased fibular diameter, Limb undergrowth, ... OMIM:616897
Hyperparathyroidism, Transient Neonatal
Thin ribs, Short ribs, Osteopenia, Narrow chest, Femoral bowing OMIM:618188
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Radial club hand, Aplasia/Hypoplasia of the thumb, Ulnar bowing, Asymmetric radial dysplasia, Abn... ORPHA:2878
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Depressed nasal ridge, Thin ribs, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhi... OMIM:300863
Epiphyseal Dysplasia, Multiple, 5
Irregular epiphyses, Delayed tarsal ossification, Arthralgia of the hip, Small epiphyses, Metaphy... OMIM:607078
Fibrochondrogenesis 2
Thoracic hypoplasia, Micrognathia, Metaphyseal widening, Short nose, Malar flattening, Short ribs... OMIM:614524
Brachydactyly Type A2
Short middle phalanx of finger, Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short... ORPHA:93396
Brachydactyly Type A1
Broad metacarpals, Short middle phalanx of finger, Cone-shaped epiphysis, Talipes equinovarus, Di... ORPHA:93388
Mental Retardation Syndrome, Mietens-Weber Type
Narrow nose, Dislocated radial head, Absent proximal radial epiphyses, Elbow flexion contracture,... OMIM:249600
Spondyloepimetaphyseal Dysplasia, Missouri Type
Short lower limbs, Small epiphyses, Genu varum, Tibial bowing, Knee osteoarthritis, Metaphyseal i... ORPHA:93356
Fibular Hemimelia
Abnormal lower limb bone morphology, Talipes equinovarus, Hypoplastic acetabulae, Finger syndacty... ORPHA:93323
Bone Dysplasia, Lethal Holmgren Type
Depressed nasal ridge, Metaphyseal dysplasia, Abnormality of femur morphology, Abnormality of the... ORPHA:1842
Blomstrand Lethal Chondrodysplasia
Short nose, Aplastic clavicle, Distal shortening of limbs, Short ribs, Malar flattening, Synostos... ORPHA:50945
Fibrochondrogenesis 1
Broad ischia, Short nose, Malar flattening, Joint contracture of the hand, Short ribs, Camptodact... OMIM:228520
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Aplasia/Hypoplasia of the fibula, Short phalanx of finger, Brachydactyly, Split ... OMIM:113310
Endove Syndrome, Limb-Only Type
Triangular tibia, Absent proximal finger flexion creases, 3-4 finger syndactyly, Aplasia of the d... OMIM:619217
Spondyloperipheral Dysplasia
Short metatarsal, Malar flattening, Limited elbow extension, Short toe, Flat acetabular roof, Con... OMIM:271700
Van Den Ende-Gupta Syndrome
Hallux valgus, Talipes equinovarus, Malar flattening, Joint contracture of the hand, Long hallux,... OMIM:600920
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Decreased calvarial ossification, 2-3 toe syndactyly, Micrognathia, Radial bowing, Thoracic hypop... OMIM:617866
Multiple Synostoses Syndrome 1
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Cubit... OMIM:186500
Spondylometaphyseal Dysplasia, Corner Fracture Type
Genu varum, Metaphyseal irregularity, Coxa vara, Short femoral neck, Hypoplasia of the odontoid p... OMIM:184255
Autosomal Dominant Omodysplasia
Micrognathia, Depressed nasal bridge, Rhizomelia, Short nose, Malar flattening, Short 1st metacar... ORPHA:93328
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Periostosis, Hyperostosis, Clubbing OMIM:614441
Pseudoachondroplasia
Genu varum, Metaphyseal irregularity, Abnormality of femoral epiphysis, Limited elbow extension, ... ORPHA:750
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Genu varum, Epiphyseal dysplasia, Patellar hypoplasia, Broad femoral neck, Short femoral neck, Ir... OMIM:609325
Dysosteosclerosis
Short ribs, Absent frontal sinuses, Delayed eruption of teeth, Progressive bowing of long bones, ... OMIM:224300
Ophthalmomandibulomelic Dysplasia
Abnormality of bone mineral density, Temporomandibular joint ankylosis, Aplasia/Hypoplasia of the... ORPHA:2741
Ulna Hypoplasia-Intellectual Disability Syndrome
Metatarsus adductus, Broad hallux phalanx, Ulnar deviation of finger, Hypoplasia of the radius, E... ORPHA:2249
Lethal Recessive Chondrodysplasia
Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized osteosclerosis, Narrow chest... ORPHA:1423
Ritscher-Schinzel Syndrome 3
Poorly ossified vertebrae, Micrognathia, Epiphyseal stippling, Shortening of all distal phalanges... OMIM:619135
Achondrogenesis Type 1A
Micrognathia, Multiple rib fractures, Short nose, Short thorax, Short foot, Narrow chest, Short p... ORPHA:93299
Faciocardiomelic Dysplasia, Lethal
Micrognathia, Neonatal death, Fibular hypoplasia, Short 5th finger, Hypoplasia of the radius, Sho... OMIM:227270
Greenberg Dysplasia
Micrognathia, Anterior rib punctate calcifications, Rhizomelia, Abnormal leukocyte morphology, De... ORPHA:1426
Brachymetatarsus Iv
Short fourth metatarsal, Short 4th toe OMIM:113475
Otopalatodigital Syndrome, Type Ii
Nonossified fifth metatarsal, Undulate clavicles, Short metatarsal, Malar flattening, Short ribs,... OMIM:304120
Achondrogenesis Type 1B
Micrognathia, Talipes equinovarus, Short nose, Short thorax, Short foot, Narrow chest, Abnormal r... ORPHA:93298
Metaphyseal Chondrodysplasia, Schmid Type
Osteosclerosis of ribs, Genu varum, Metaphyseal irregularity, Short tubular bones of the hand, Fe... ORPHA:174
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Epiphyseal stippling, Short nose, Long fibula, Short ribs, Malar flattening, Hip subluxation, Sho... OMIM:271665
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limited elbow movement, Limitation of knee mobility, Talipes equinovarus OMIM:276821
Metatropic Dysplasia
Long thorax, Depressed nasal bridge, Abnormality of the metaphysis, Abnormal cortical bone morpho... ORPHA:2635
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Short nose, Abnormality of the metaphysis, Reduced bone mineral density, Brachydactyly, Hip dyspl... ORPHA:2370
Achondrogenesis, Type Ii
Horizontal ribs, Broad long bones, Hypoplastic iliac wing, Short ribs, Absent vertebral body mine... OMIM:200610
Metaphyseal Chondrodysplasia, Schmid Type
Enlargement of the proximal femoral epiphysis, Short middle phalanx of finger, Genu varum, Irregu... OMIM:156500
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Hand monodactyly, Absent tibia, Patellar aplasia, Split hand, Split foot, Aplasia/Hypoplasia of t... OMIM:119100
Short Rib-Polydactyly Syndrome
Abnormal ilium morphology, Short ribs, Reduced bone mineral density, Syndactyly, Abnormal pelvis ... ORPHA:1505
Metaphyseal Chondrodysplasia, Jansen Type
Micrognathia, Metaphyseal cupping, Choanal stenosis, Hip contracture, Bowing of the long bones, S... OMIM:156400
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis
Abscess, Periostitis, Osteomyelitis, Fused cervical vertebrae, Osteopenia, Splenomegaly, Neutroph... OMIM:612852
Rhizomelic Dysplasia, Patterson-Lowry Type
Short metatarsal, Rhizomelia, Coxa vara, Short metacarpal, Short humerus, Deformed humeral heads,... OMIM:601438
Kyphomelic Dysplasia
Thoracic hypoplasia, Micrognathia, Tibial bowing, Radial bowing, Depressed nasal bridge, Talipes ... OMIM:211350
Craniosynostosis-Mental Retardation-Clefting Syndrome
Lower limb undergrowth, Craniosynostosis, Convex nasal ridge, Forearm undergrowth OMIM:218650
Acheiropodia
Fibular aplasia, Abnormality of epiphysis morphology, Aplasia of the ulna, Abnormality of the met... ORPHA:931
Ulna And Fibula, Hypoplasia Of
Hypoplasia of the ulna, Fibular hypoplasia OMIM:191400
Hypophosphatasia, Infantile
Short lower limbs, Decreased calvarial ossification, Bowing of the legs, Increased susceptibility... OMIM:241500
Autosomal Recessive Omodysplasia
Micrognathia, Abnormality of femur morphology, Depressed nasal bridge, Rhizomelia, Short nose, Cr... ORPHA:93329
3M Syndrome
Abnormal dental enamel morphology, Short thorax, Delayed eruption of teeth, Bulbous nose, Antever... ORPHA:2616
Spondyloepimetaphyseal Dysplasia, Irapa Type
Abnormality of the carpal bones, Broad palm, Upper limb undergrowth, Pectus carinatum, Abnormalit... ORPHA:93351
Cenani-Lenz Syndrome
Toe syndactyly, Convex nasal ridge, Oligodactyly, Short nose, Malar flattening, Synostosis of car... ORPHA:3258
Rhizomelic Chondrodysplasia Punctata, Type 5
Talipes equinovarus, Swan neck-like deformities of the fingers, Metaphyseal irregularity, Narrow ... OMIM:616716
Pallister-Hall-Like Syndrome
Micrognathia, Depressed nasal bridge, Short nose, Short ribs, Hip dislocation, Postaxial hand pol... OMIM:241800
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Osteosclerosis of the base of the skull, Subperiosteal bone formation OMIM:609993
Atelosteogenesis Type Ii
Short lower limbs, Upper limb undergrowth, Excessive femoral anteversion, Short ribs, Hitchhiker ... ORPHA:56304
Fibular Aplasia-Ectrodactyly Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the fibula, Split hand ORPHA:1118
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Micrognathia, Broad long bones, Adducted thumb, Metaphyseal widening, Bowing of the long bones, M... OMIM:224400
Boomerang Dysplasia
Poorly ossified vertebrae, Abnormality of the ulna, Abnormality of femur morphology, Abnormally o... ORPHA:1263
Pyknoachondrogenesis
Poorly ossified vertebrae, Depressed nasal ridge, Horizontal ribs, Short iliac bones, Enlarged th... ORPHA:3003
Hemidystonia-Hemiatrophy Syndrome
Hemiatrophy, Dense calvaria, Rhizomelic leg shortening, Advanced pneumatization of cranial sinuse... ORPHA:306741
Epiphyseal Dysplasia, Multiple, 4
Flat capital femoral epiphysis, Hypoplasia of the femoral head, Talipes equinovarus, Epiphyseal d... OMIM:226900
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Metaphyseal cupping, Depressed nasal bridge, Wide nose, Short nose, Short ribs, Iliac crest serra... OMIM:613320
Ulnar Hemimelia
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... ORPHA:93320
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Micrognathia, Depressed nasal bridge, Wide nasal bridge, Finger syndactyly, Aplasia of the proxim... ORPHA:2256
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Micrognathia, Hypoplastic scapulae, Metaphyseal widening, Rhizomelia, Femoral bowing, Dumbbell-sh... ORPHA:440354
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Abnormality of the elbow, Split hand, Abnormality of the wrist, Postaxial hand polydactyly, Short... ORPHA:2491
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Short greater sciatic notch, Wide-cupped costochondral junction... OMIM:187601
Three M Syndrome 1
Pectus excavatum, Depressed nasal bridge, Mandibular prognathia, Malar flattening, Short ribs, Sh... OMIM:273750
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Depressed nasal bridge, Lateral clavicle hook, Postaxial po... OMIM:617895
Astley-Kendall Dysplasia
Micromelia, Epiphyseal stippling ORPHA:85175
Brachydactyly-Syndactyly, Zhao Type
Toe syndactyly, Hallux valgus, Short 5th metacarpal, Short fifth metatarsal, Symphalangism affect... ORPHA:93409
Achondrogenesis
Micrognathia, Abnormality of bone mineral density, Short nose, Short thorax, Narrow chest, Anteve... ORPHA:932
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Micrognathia, Wide nose, Malar flattening, Hypoplasia of the ulna, Thick nasal alae, Clinodactyly ORPHA:357175
Spondylometaphyseal Dysplasia, Sedaghatian Type
Talipes equinovarus, Metaphyseal irregularity, Long fibula, Short ribs, Cupped ribs, 11 pairs of ... OMIM:250220
Cleidocranial Dysplasia
Abnormal facility in opposing the shoulders, Aplastic clavicle, Short ribs, Absent frontal sinuse... OMIM:119600
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Abnormality of the ulna, Ulnar deviation of finger, Fibular hypoplasia, Synostosis of carpal bone... ORPHA:2634
Chondrodysplasia With Joint Dislocations, Gpapp Type
Micrognathia, Short nose, Wide nasal bridge, Genu valgum, Short foot, Short metacarpal, Short toe... OMIM:614078
Acromesomelic Dysplasia 2B
Fibular aplasia, Deformed tarsal bones, Rhizomelia, Malaligned carpal bone, Fibular hypoplasia, S... OMIM:228900
Orofaciodigital Syndrome Type 10
Fibular aplasia, Tarsal synostosis, Micrognathia, Mesomelic leg shortening, Polysyndactyly of hal... ORPHA:2756
Mietens Syndrome
Metatarsus adductus, Elbow ankylosis, Avascular necrosis of the capital femoral epiphysis, Short ... ORPHA:2557
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Cone-shaped epiphysis, Craniosynostosis, Anemia, Short ribs, Short femoral neck, Hypoplasia of th... OMIM:266920
Mental Retardation, Autosomal Recessive 35
Micrognathia, Wide nose, Malar flattening, Hypoplasia of the ulna, Thick nasal alae, Clinodactyly OMIM:615162
Holt-Oram Syndrome
Pectus excavatum, Short clavicles, Triphalangeal thumb, Phocomelia, Small thenar eminence, Aplasi... OMIM:142900
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Mandibular prognathia, Irregular carpal bones, Cr... OMIM:252600
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Flared radial metaphysis, Broad tibial metaphyses, Bowing of the long bones, Gle... ORPHA:85170
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Micrognathia, Neonatal death, Syndactyly, Mesomelia, Hypoplasia of the ulna OMIM:228940
Thanatophoric Dysplasia, Type I
Short greater sciatic notch, Small abnormally formed scapulae, Wide-cupped costochondral junction... OMIM:187600
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Absent tibia, Talipes equinovarus, Short metatarsal, Short nose, Proximal placement of thumb, Hyp... OMIM:609945
Spondyloepimetaphyseal Dysplasia With Hypotrichosis
Proximal femoral metaphyseal irregularity, Proximal humeral metaphyseal irregularity, Genu varum,... OMIM:183849
Spondyloepiphyseal Dysplasia, Nishimura Type
Cone-shaped epiphysis, Short nose, Small hand, Delayed epiphyseal ossification, Osteoarthritis, B... OMIM:618618
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal
Proximal humeral metaphyseal irregularity, Long clavicles, Micrognathia, Thoracic hypoplasia, Dep... OMIM:602613
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... OMIM:228930
Rhizomelic Dysplasia, Scoliosis, And Retinitis Pigmentosa
Short clavicles, Prominent deltoid tuberosities, Rhizomelia, Short ribs, Amelogenesis imperfecta,... OMIM:610319
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Periostitis, Osteomyelitis ORPHA:2218
Terminal Osseous Dysplasia
Mesomelic leg shortening, Abnormal hand bone ossification, Mesomelic arm shortening, Malar flatte... OMIM:300244
Distal Trisomy 5Q
Carious teeth, Micrognathia, Short nose, Craniosynostosis, Prominent nasal bridge, Hypoplasia of ... ORPHA:96097
Orofaciodigital Syndrome Viii
Syndactyly, Polydactyly, Short tibia OMIM:300484
Dysplastic Cortical Hyperostosis
Limb undergrowth, Abnormality of limb bone morphology, Abnormal cortical bone morphology, Splenom... ORPHA:2204
17Q21.31 Microduplication Syndrome
Toe syndactyly, Micrognathia, Short nose, Malar flattening, Sandal gap, Anteverted nares, Clinoda... ORPHA:217340
Spondylometaphyseal Dysplasia, Type A4
Broad ischia, Pectus carinatum, Metaphyseal widening, Metaphyseal irregularity, Enlargement of th... OMIM:609052
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger OMIM:314360
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short metatarsal, Hitchhiker thumb, Short metacarpal, Short thumb, Short distal phalanx of finger... OMIM:112450
Mental Retardation, X-Linked 91
Cubitus valgus, Small hand, Short nose, Short 5th finger, Short foot, Clinodactyly OMIM:300577
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Pectus excavatum, Depressed nasal bridge, Short nose, Osteoporosis, Osteopenia, Anteverted nares,... OMIM:615398
Congenital Disorder Of Glycosylation, Type Ig
Talipes equinovarus, Rhizomelia, Wide nose, Short ribs, Hypoplasia of the radius, Sandal gap, Sho... OMIM:607143
Tibial Hemimelia
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... ORPHA:93322
Lethal Kniest-Like Dysplasia
Abnormal cartilage morphology, Broad long bones, Abnormal cartilage matrix, Anterior rib cupping,... ORPHA:2347
Cooper-Jabs Syndrome
Missing ribs, Proximal placement of thumb, Malar flattening, Reduced bone mineral density, Abnorm... ORPHA:1488
Metaphyseal Dysostosis, Mental Retardation, And Conductive Deafness
Metaphyseal dysplasia, Genu varum, Irregular chondrocostal junctions, Metaphyseal irregularity, S... OMIM:250420
Fibrochondrogenesis
Depressed nasal bridge, Hypoplastic scapulae, Abnormality of the metaphysis, Short ribs, Antevert... ORPHA:2021
Langer Mesomelic Dysplasia
Abnormality of the ulna, Abnormality of epiphysis morphology, Ulnar deviation of finger, Bowing o... ORPHA:2632
Poland Syndrome
Unilateral oligodactyly, Hypoplasia of deltoid muscle, Short ribs, Sprengel anomaly, Syndactyly, ... OMIM:173800
Familial Osteodysplasia, Anderson Type
Carious teeth, Prominent nose, Bifid femur, Depressed nasal ridge, Failure of eruption of permane... ORPHA:2769
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Tapered finger, Metaphyseal irregularity, Dislocated radial head, Hip dislocation, Hyp... OMIM:618395
Cranioectodermal Dysplasia 1
Triphalangeal hallux, Broad toe, Short ribs, Broad distal phalanges of all fingers, Short toe, An... OMIM:218330
Diamond-Blackfan Anemia 11
Anemia of inadequate production, Neutropenia, Anemia, Hypoplasia of the radius, Abnormal digit mo... OMIM:614900
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof, Retrognathia, Underdeveloped nasal alae OMIM:613676
Dyssegmental Dysplasia With Glaucoma
Broad long bones, Hip contracture, Malar flattening, Delayed epiphyseal ossification, Wide anteri... OMIM:601561
Ulnar Hypoplasia-Split Foot Syndrome
Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius, Split hand, Split foot ORPHA:1122
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Pulp calcification, Hyperostosis, Taurodontia, Enamel hypoplasia, Subperiosteal bone formation OMIM:211900
Craniosynostosis, Herrmann-Opitz Type
Micrognathia, Convex nasal ridge, Short nose, Craniosynostosis, Malar flattening, Split hand, Fin... ORPHA:2145
Diastrophic Dysplasia
Micrognathia, Depressed nasal bridge, Short finger, Abnormality of epiphysis morphology, Ulnar de... ORPHA:628
Desbuquois Dysplasia 1
Monkey wrench femoral neck, Genu varum, Talipes equinovarus, Short metatarsal, Short nose, Malar ... OMIM:251450
Heart-Hand Syndrome Type 2
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... ORPHA:1350
Craniofacial Dysostosis With Diaphyseal Hyperplasia
Pectus excavatum, Limb undergrowth, Massively thickened long bone cortices, Micromelia, Brachydac... OMIM:122900
Schneckenbecken Dysplasia
Diaphyseal thickening, Lateral clavicle hook, Hypoplastic scapulae, Fibular hypoplasia, Short rib... ORPHA:3144
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Genu varum, Fibular bowing, Tibial bowing, Generalized bone demineralization, Rickets, Thin bony ... OMIM:600785
Endosteal Hyperostosis, Worth Type
Diaphyseal thickening, Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone ... ORPHA:2790
Hyperphosphatasia With Mental Retardation Syndrome 6
Prominent nasal tip, 2-3 toe syndactyly, Depressed nasal bridge, Hip contracture, Shortening of a... OMIM:616809
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Convex nasal ridge, Long thorax, Mesomelia, Brachydactyly, Abnormal shoulder morpho... ORPHA:1277
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Tibial bowing, Fibular bowing, Thin bony cortex, Deformed rib cage, Enlargement of the wrists, Bo... OMIM:600081
Ivic Syndrome
Leukocytosis, Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Thrombocytopenia, Sma... OMIM:147750
Cenani-Lenz Syndactyly Syndrome
Hypoplasia of the ulna, Micrognathia, Syndactyly, Hypoplasia of the radius OMIM:212780
Rothmund-Thomson Syndrome
Carious teeth, Aplasia/Hypoplasia of the patella, Neutropenia, Leukemia, Aplasia/Hypoplasia of th... ORPHA:2909
Dyggve-Melchior-Clausen Syndrome, X-Linked
Hallux valgus, Mandibular prognathia, Avascular necrosis of the capital femoral epiphysis, Irregu... OMIM:304950
Arms, Malformation Of
Hypoplasia of the ulna, Hypoplasia of the radius, Radioulnar synostosis OMIM:107900
Pallister W Syndrome
Metatarsus adductus, Agenesis of central incisor, Radial bowing, Depressed nasal bridge, Broad na... OMIM:311450
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Broad long bones, Talipes equinovarus, Bowing of the legs, Limb undergrowth, Short ... ORPHA:1865
Atelosteogenesis, Type Ii
Thoracic hypoplasia, Micrognathia, Short middle phalanx of finger, Short greater sciatic notch, D... OMIM:256050
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Abnormal vertebral segmentation and fusion, Narrow... ORPHA:66637
Spondyloepiphyseal Dysplasia, Nishimura Type
Micrognathia, Depressed nasal bridge, Wide proximal femoral metaphysis, Abnormal femoral neck/hea... ORPHA:163649
Baller-Gerold Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Short humerus, Limited elbow movement,... OMIM:218600
Acrofacial Dysostosis Syndrome Of Rodriguez
Micrognathia, Triphalangeal thumb, Talipes equinovarus, Fibular hypoplasia, Overlapping toe, 11 p... OMIM:201170
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Decreased calvarial ossification, Micrognathia, Horizontal ribs, Depressed nasal bridge, Absent n... OMIM:617925
Acromesomelic Dysplasia 3
Fibular aplasia, Tarsal synostosis, Talipes equinovarus, Short finger, Short phalanx of finger, A... OMIM:609441
Ulnar/Fibular Ray Defect And Brachydactyly
Toe syndactyly, Fibular hypoplasia, Malar flattening, Postaxial oligodactyly, Unilateral ulnar hy... OMIM:608571
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Horizontal ribs, Early ossification of capital femoral epiphyses, Lateral cl... OMIM:208500
Codas Syndrome
Hypoplasia of the odontoid process, Metaphyseal dysplasia, Depressed nasal bridge, Generalized jo... OMIM:600373
Occipital Horn Syndrome
Pectus excavatum, Short clavicles, Convex nasal ridge, Capitate-hamate fusion, Pectus carinatum, ... OMIM:304150
Acromicric Dysplasia
Abnormality of femur morphology, Fifth metacarpal with ulnar notch, Abnormality of epiphysis morp... ORPHA:969
Femoral-Facial Syndrome
Micrognathia, Talipes equinovarus, Coxa vara, Hip dysplasia, Abnormality of fibula morphology, Ab... ORPHA:1988
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic hypoplasia, Lateral clavicle hook, Short ribs, Genu valgum, Splenomegaly, Bell-shaped th... OMIM:615630
Ghosal Hematodiaphyseal Dysplasia
Abnormality of femur morphology, Diaphyseal thickening, Bowing of the long bones, Abnormality of ... ORPHA:1802
Meier-Gorlin Syndrome 1
Cutaneous finger syndactyly, Genu varum, Talipes equinovarus, Joint contracture of the hand, Shor... OMIM:224690
Meier-Gorlin Syndrome 3
Micrognathia, Genu varum, Aplasia/Hypoplasia of the patella, Talipes equinovarus, Short thorax, S... OMIM:613803
Poland Syndrome
Abnormality of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal sternum morphology, Aplasia/Hy... ORPHA:2911
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Epiphyseal stippling, Short nose, Short distal phalanx of finger, Short n... OMIM:302950
Florid Cemento-Osseous Dysplasia
Abnormal cementum morphology, Supernumerary tooth, Abnormal bone structure, Multiple impacted tee... ORPHA:83451
Ollier Disease
Anemia, Abnormality of the metaphysis, Multiple enchondromatosis, Abnormal cartilage morphology, ... ORPHA:296
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Horizontal ribs, Hypoplastic facial bones, Postaxial polydactyly, Rhizomelia, Sho... OMIM:616300
Odontochondrodysplasia
Depressed nasal bridge, Cone-shaped epiphysis, Bowing of the long bones, Short nose, Abnormality ... ORPHA:166272
Mesomelic Limb Shortening And Bowing
Micrognathia, Mesomelic leg shortening, Bowing of the legs, Mesomelic arm shortening, Camptodacty... OMIM:249710
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Osteogenesis Imperfecta, Type Ii
Thoracic hypoplasia, Tibial bowing, Broad long bones, Convex nasal ridge, Thin ribs, Limb undergr... OMIM:166210
Thoracolaryngopelvic Dysplasia
Horizontal ribs, Irregular chondrocostal junctions, Hypoplastic iliac wing, Metaphyseal widening,... OMIM:187760
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Metatarsal periosteal thickening, Foot acroosteolysis, Arthritis, Periosteal thickening of long t... OMIM:161700
Heyn-Sproul-Jackson Syndrome
Broad phalanx, 11 pairs of ribs, Short metacarpal, Short phalanx of finger, Broad metacarpals OMIM:618724
Melnick-Needles Syndrome
Micrognathia, Tibial bowing, Short clavicles, Pectus excavatum, Talipes equinovarus, Hypoplastic ... OMIM:309350
Chromosome 16P13.3 Duplication Syndrome
Pectus excavatum, Tapered finger, Long fingers, Short nose, Short toe, Proximal placement of thum... OMIM:613458
Odontochondrodysplasia 1
Genu varum, Delayed eruption of teeth, Short phalanx of finger, Short long bone, Flat acetabular ... OMIM:184260
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Bone Dysplasia, Lethal, Holmgren Type
Bell-shaped thorax, Narrow chest, Short ribs OMIM:211120
Thoracic Dysostosis, Isolated
Bell-shaped thorax, Pectus excavatum, Short ribs OMIM:187750
Acro-Renal-Mandibular Syndrome
Micrognathia, Thin ribs, Hypoplastic scapulae, Pectus carinatum, Abnormal clavicle morphology, Hy... ORPHA:958
W Syndrome
Metatarsus adductus, Radial bowing, Depressed nasal bridge, Broad nasal tip, Agenesis of maxillar... ORPHA:2804
Grant Syndrome
Down-sloping shoulders, Micrognathia, Tibial bowing OMIM:138930
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Amelia, Short femur, Foot oligodactyly OMIM:601357
Weaver Syndrome
Talipes equinovarus, Joint contracture of the hand, Short ribs, Limited elbow extension, Camptoda... OMIM:277590
Epiphyseal Dysplasia, Baumann Type
Aplasia of metacarpal bones, Hypoplasia of the femoral head, Carpal bone aplasia, Ulnar deviation... OMIM:610797
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Broad palm, Rhizomelia, Short foot, Short metacarpal, Narrow chest, Mesomelia, Postaxial hand pol... OMIM:611263
Omodysplasia 1
Limited elbow flexion, Micrognathia, Depressed nasal bridge, Rhizomelia, Short nose, Fibular hypo... OMIM:258315
Opsismodysplasia
Pectus excavatum, Depressed nasal bridge, Tapered finger, Abnormality of epiphysis morphology, Sh... ORPHA:2746
Weismann-Netter Syndrome
Abnormality of tibia morphology, Abnormality of the ulna, Tibial bowing, Fibular bowing, Abnormal... ORPHA:3344
Campomelic Dysplasia
Depressed nasal ridge, Shortening of all phalanges of the toes, Micrognathia, Shortening of all p... OMIM:114290
Congenital Radioulnar Synostosis
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... ORPHA:3269
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Talipes equinovarus, Malar flattening, Short 5th finger, Short foot, Postaxial oligodactyly, Apla... ORPHA:52056
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Bowing of the long bones, Short ribs, S... OMIM:614091
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Proximal femoral metaphyseal irregularity, Abnormal acetabulum morphology, Micrognathia, Long cla... ORPHA:397715
Metaphyseal Chondrodysplasia, Kaitila Type
Proximal femoral metaphyseal irregularity, Metaphyseal dysplasia, Delayed proximal femoral epiphy... OMIM:250230
Basal Cell Nevus Syndrome
Irregular ossification of hand bones, Polydactyly, Vertebral fusion, Palmar pits, Bifid ribs, Man... OMIM:109400
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, Enlargement of th... OMIM:264700
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Reduced arm span, Genu varum, Arthralgia of the hip, Fragmentation of the metacarpal epiphyses, A... ORPHA:166002
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Thoracic hypoplasia, Horizontal ribs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, P... OMIM:613091
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Upper limb undergrowth, Abnormal cortical bone morphology, Concave nasal ridge, Pathologic fractu... ORPHA:166277
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Toe syndactyly, Micrognathia, Depressed nasal bridge, Pectus carinatum, Bowing of the long bones,... ORPHA:171839
Microcephaly-Micromelia Syndrome
Abnormality of the hand, Micrognathia, Convex nasal ridge, Talipes equinovarus, Wide nose, Cranio... OMIM:251230
Acrocephalopolydactyly
Depressed nasal ridge, Thoracic hypoplasia, Limb undergrowth, Short nose, Hepatosplenomegaly, Sho... ORPHA:221054
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Small epiphyses, Depressed nasal bridge, Proximal femoral epiphysiolysis, Narrow pelvis bone, Sho... OMIM:616723
Metaphyseal Dysplasia Without Hypotrichosis
Metaphyseal dysplasia, Genu varum, Metaphyseal cupping of metacarpals, Joint laxity, Metaphyseal ... OMIM:250460
Diabetes Insipidus, Neurohypophyseal
Wide nose, Short nose, Osteopenia OMIM:125700
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, 11 pairs of ribs, Absent knee epiphyses, Short humerus, Femoral bowing, Short fe... OMIM:210710
Diaphanospondylodysostosis
Depressed nasal ridge, Micrognathia, Absent in utero ossification of vertebral bodies, Depressed ... OMIM:608022
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose, Microretrognathia OMIM:218010
Hallermann-Streiff Syndrome
Underdeveloped nasal alae, Micrognathia, Convex nasal ridge, Rib exostoses, Supernumerary tooth, ... ORPHA:2108
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pseudoarthrosis, Pectus excavatum, Missing ribs, Short ribs OMIM:618155
Rhizomelic Chondrodysplasia Punctata
Epiphyseal stippling, Abnormality of epiphysis morphology, Limb undergrowth, Rhizomelia, Abnormal... ORPHA:177
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Shield chest, Talipes equinovarus, Cubitus valgus, Delayed eruption of teeth, Camptodactyly of fi... OMIM:143095
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Clubbing of fingers, Periosteal thickening of long tubular bones OMIM:167100
Upper Limb Mesomelic Dysplasia
Ulnar deviation of finger, Hypoplasia of the ulna, Radial bowing ORPHA:2497
Postaxial Acrofacial Dysostosis
Micrognathia, Malar flattening, Hypoplasia of the radius, Finger syndactyly, Camptodactyly of fin... ORPHA:246
Vitamin D-Dependent Rickets, Type 2A
Carious teeth, Tibial bowing, Fibular bowing, Thin bony cortex, Subperiosteal bone resorption, En... OMIM:277440
Fatco Syndrome
Tarsal synostosis, Finger syndactyly, Absent hand, Split hand, Abnormality of fibula morphology, ... ORPHA:2492
Pelviscapular Dysplasia
Mesomelic leg shortening, Hypoplastic scapulae, Congenital hip dislocation, Brachydactyly, Short ... ORPHA:93333
Acro-Renal-Ocular Syndrome
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Verteb... ORPHA:959
Epiphyseal Dysplasia, Multiple, 1
Irregular epiphyses, Small epiphyses, Avascular necrosis of the capital femoral epiphysis, Epiphy... OMIM:132400
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Triphalangeal thumb, Choanal stenosis, Pectoralis hypoplasia, Hypopl... OMIM:607323
Orofaciodigital Syndrome Iv
Toe syndactyly, Micrognathia, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyl... OMIM:258860
Cerebrocostomandibular Syndrome
Anomalous rib insertion to vertebrae, Thoracic hypoplasia, Micrognathia, Malar flattening, Congen... OMIM:117650
Otospondylomegaepiphyseal Dysplasia
Micrognathia, Tibial bowing, Fibular bowing, Depressed nasal bridge, Abnormally ossified vertebra... ORPHA:1427
Short Stature-Obesity Syndrome
Micrognathia, Narrow nose, Limb undergrowth, Prominent nasal bridge, Clinodactyly of the 5th fing... OMIM:269870
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Micrognathia, Short clavicles, Aplasia/hypoplasia of the extremities, Epiphyseal stippling, Hypop... OMIM:308050
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Upper limb undergrowth, Epiphyseal stippling, Prominent calcaneus, Short ribs, Short 1st metacarp... ORPHA:96334
Infantile-Onset X-Linked Spinal Muscular Atrophy
Interphalangeal joint contracture of finger, Ankle flexion contracture, Hip contracture, Arthrogr... ORPHA:1145
Campomelic Dysplasia
Micrognathia, Tibial bowing, Small abnormally formed scapulae, Depressed nasal bridge, Talipes eq... ORPHA:140
Kniest-Like Dysplasia, Lethal
Talipes equinovarus, Rhizomelia, Metaphyseal irregularity, Malar flattening, Short ribs, Short di... OMIM:245190
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Tibial bowing, Fibular bowing, Thin bony cortex, Deformed rib cage, Enlargement of the wrists, Bo... OMIM:241530
Coxoauricular Syndrome
Abnormality of femur morphology, Reduced bone mineral density, Hip dislocation, Abnormality of pe... ORPHA:1508
Thalidomide Embryopathy
Aplasia/hypoplasia of the humerus, Triphalangeal thumb, Radial club hand, Aplasia/Hypoplasia of t... ORPHA:3312
Fgfr2-Related Bent Bone Dysplasia
Decreased calvarial ossification, Steep acetabular roof, Micrognathia, Short clavicles, Bowing of... ORPHA:313855
Ellis-Van Creveld Syndrome
Horizontal ribs, Talipes equinovarus, Capitate-hamate fusion, Hypoplastic iliac wing, Pectus cari... OMIM:225500
Schinzel-Giedion Midface Retraction Syndrome
Talipes equinovarus, Hypoplasia of first ribs, Thickened cortex of long bones, Short nose, Malar ... OMIM:269150
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Hypoplastic iliac wing, Enlarged metacarpal epiphyses, Broad toe, Mesomelic arm shortening, Cuppe... OMIM:609616
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Carious teeth, Depressed nasal bridge, Postaxial polydactyly, Short metatarsal, Limb undergrowth,... OMIM:617102
Multiple Epiphyseal Dysplasia, Lowry Type
Micrognathia, Small epiphyses, Fragmented epiphyses, Rhizomelia, Epiphyseal dysplasia, Delayed ep... ORPHA:166016
Spondylometaphyseal Dysplasia, A4 Type
Flared, irregular rib ends, Coxa vara, Limitation of joint mobility, Short palm, Micromelia ORPHA:168555
Renal Dysplasia-Limb Defects Syndrome
Fibular aplasia, Micrognathia, Convex nasal ridge, Depressed nasal bridge, Thin ribs, Talipes equ... OMIM:266910
Multiple Metaphyseal Dysplasia
Depressed nasal ridge, Abnormality of epiphysis morphology, Aplasia/Hypoplasia of the thumb, Broa... ORPHA:93430
Stuve-Wiedemann Syndrome 1
Broad ischia, Metaphyseal rarefaction, Thickened cortex of long bones, Contracture of the proxima... OMIM:601559
Thrombocytopenia-Absent Radius Syndrome
Fibular aplasia, Aplasia/hypoplasia of the humerus, Micrognathia, Genu varum, Aplasia/Hypoplasia ... ORPHA:3320
Atelosteogenesis Type Iii
Fibular aplasia, Thoracic hypoplasia, Micrognathia, Club-shaped distal femur, Distal tapering fem... ORPHA:56305
Femoral-Facial Syndrome
Talipes equinovarus, Hypoplastic acetabulae, Short nose, Short humerus, Short fourth metatarsal, ... OMIM:134780
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Depressed nasal bridge, Lateral clavicle hook, Postaxial polydactyly, Short ribs, Preaxial polyda... OMIM:615503
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short columella, Short nose, Short distal phalanx of finger, Dental maloc... OMIM:155050
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Abnormal sternum morphology, Cubitus valgus, Prominent calcaneus, Short nose, Malar flattening, T... ORPHA:457395
Acrofacial Dysostosis 1, Nager Type
Hallux valgus, Triphalangeal thumb, Talipes equinovarus, Hypoplasia of first ribs, Aplasia/Hypopl... OMIM:154400
Pelvis-Shoulder Dysplasia
Long clavicles, Micrognathia, Talipes equinovarus, Absent proximal finger flexion creases, Promin... ORPHA:2839
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Small epiphyses, Tapered finger, Metaphyseal irregularity, Slender finger, Genu valgum, Pseudoepi... OMIM:601668
Hydrocephalus With Associated Malformations
Abnormal foot morphology, Micrognathia, Tibial bowing, Short lower limbs, Lower limb undergrowth OMIM:236640
Spondyloepiphyseal Dysplasia Tarda
Abnormality of the tibial plateaux, Dysplasia of the femoral head, Knee osteoarthritis, Increased... ORPHA:93284
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
B lymphocytopenia, Neutropenia, Leukopenia, Anemia, Delayed eruption of teeth, Abnormal thorax mo... ORPHA:508542
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Short nose ORPHA:2015
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Aplasia/Hypoplasia of the thumb, Wide nasal bridge, Absent radius, Aplasia of the 1... ORPHA:1352
Osteoglophonic Dysplasia
Pseudoarthrosis, Short metatarsal, Short nose, Malar flattening, Anteverted nares, Short phalanx ... OMIM:166250
Fibular Aplasia-Complex Brachydactyly Syndrome
Tarsal synostosis, Abnormality of tibia morphology, Abnormality of the ulna, Abnormality of epiph... ORPHA:2639
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal metacarpal morphology, Abnormality of epiphysis morphology, Bowing of the long bones, Ab... ORPHA:2631
Pfeiffer Syndrome
Elbow ankylosis, Depressed nasal bridge, Mandibular prognathia, Short nose, Finger syndactyly, Sy... OMIM:101600
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Micrognathia, Short nose, Wide nasal bridge, Unilambdoid synostosis, Anteverted nares, Ulnar devi... OMIM:618577
Thoracic Dysplasia-Hydrocephalus Syndrome
Limb undergrowth, Narrow chest, Thoracic dysplasia, Short ribs OMIM:273730
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Irregular epiphyses, Small epiphyses, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Bowing ... OMIM:608728
Osteogenesis Imperfecta, Type Xvi
Rhizomelia, Osteopenia, Joint hypermobility, Beaded ribs, Mesomelia OMIM:616229
Antley-Bixler Syndrome
Elbow ankylosis, Narrow pelvis bone, Short nose, Craniosynostosis, Arachnodactyly, Hypoplasia of ... ORPHA:83
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Micrognathia, Wide nasal bridge, Absent radius, Aplasia of the 1st metacarpal, Hypoplasia of the ... OMIM:600123
Metaphyseal Acroscyphodysplasia
Abnormal diaphysis morphology, Depressed nasal ridge, Genu varum, Abnormality of femur morphology... ORPHA:1240
Postaxial Acrofacial Dysostosis
Micrognathia, Pectus excavatum, Malar flattening, Congenital hip dislocation, Hypoplasia of the r... OMIM:263750
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1
Epiphyseal stippling, Joint hemorrhage, Short nose, Epistaxis, Short distal phalanx of finger OMIM:277450
Acrocapitofemoral Dysplasia
Pectus excavatum, Genu varum, Cone-shaped epiphysis, Pectus carinatum, Short thorax, Coxa vara, C... ORPHA:63446
Jeune Syndrome
Toe syndactyly, Cone-shaped epiphysis, Abnormal sternum morphology, Abnormal clavicle morphology,... ORPHA:474
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Polydactyly, Short ribs, Narrow chest, Short long bone, Brachydactyly OMIM:613819
Cono-Spondylar Dysplasia
Short lower limbs, Short 4th toe, Epiphyseal dysplasia, Short humerus, Anteverted nares, Brachyda... ORPHA:420794
Ohdo Syndrome
Micrognathia, Depressed nasal bridge, Short nose, Wide nasal bridge, Hypoplasia of teeth, Antever... OMIM:249620
Multiple Epiphyseal Dysplasia Type 4
Flattened radial epiphyses, Upper limb undergrowth, Talipes equinovarus, Short metatarsal, Acromi... ORPHA:93307
Short Stature, Brussels Type
Narrow chest, Microretrognathia, Delayed epiphyseal ossification, Calcification of cartilage ORPHA:2867
Ruvalcaba Syndrome
Underdeveloped nasal alae, Narrow nose, Short metatarsal, Small hand, Short metacarpal, Short foo... OMIM:180870
Cdags Syndrome
Short clavicles, Malar flattening, Short ribs, Coronal craniosynostosis, Sagittal craniosynostosi... OMIM:603116
Otopalatodigital Syndrome, Type I
Short 5th metacarpal, Capitate-hamate fusion, Lateral femoral bowing, Short nose, Malar flattenin... OMIM:311300
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Thoracic hypoplasia, Pectus excavatum, Bowing of the legs, Limb undergrowth, Limited elbow extension ORPHA:156728
Teebi Hypertelorism Syndrome 1
Broad palm, Depressed nasal bridge, Short nose, Small hand, Wide nasal bridge, Craniosynostosis, ... OMIM:145420
Ulbright-Hodes Syndrome
Fibular aplasia, Large beaked nose, Micrognathia, Depressed nasal bridge, Abnormal forearm bone m... ORPHA:3404
C Syndrome
Toe syndactyly, Micrognathia, Ulnar deviation of finger, Limb undergrowth, Short nose, Fused ster... OMIM:211750
Seckel Syndrome 1
Prominent nose, Micrognathia, Single transverse palmar crease, Convex nasal ridge, Ivory epiphyse... OMIM:210600
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
2-3 toe syndactyly, Micrognathia, Tapered finger, Short nose, Clinodactyly, Brachydactyly OMIM:617061
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Decreased calvarial ossification, Abnormal rib morphology, Recurrent fractures, Micromelia, Joint... ORPHA:2772
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu varum, Flat capital femoral epiphysis, Depressed nasal bridge, Laryngotracheomalacia, Neutro... OMIM:271510
Marshall-Smith Syndrome
Bowing of the long bones, Short nose, Craniosynostosis, Increased susceptibility to fractures, Re... ORPHA:561
Focal Dermal Hypoplasia
Toe syndactyly, Short clavicles, Abnormality of epiphysis morphology, Abnormal dental enamel morp... ORPHA:2092
Multiple Osteochondromas
Short lower limbs, Abnormal lower limb bone morphology, Femoroacetabular impingement, Abnormal bo... ORPHA:321
Hypocalcemic Vitamin D-Dependent Rickets
Genu varum, Tibial bowing, Thin bony cortex, Subperiosteal bone resorption, Enlargement of the wr... ORPHA:289157
Acrorenal-Mandibular Syndrome
Toe syndactyly, Micrognathia, Thin ribs, Hypoplastic scapulae, Missing ribs, Hypoplasia of the ra... OMIM:200980
Pfeiffer Syndrome Type 1
Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the thumb, Br... ORPHA:93258
Non-Distal Trisomy 10Q
Micrognathia, Convex nasal ridge, Depressed nasal bridge, Pectus excavatum, Short nose, Joint hyp... ORPHA:1695
Acromesomelic Dysplasia, Maroteaux Type
Depressed nasal bridge, Bowing of the long bones, Acromesomelia, Sprengel anomaly, Joint hyperfle... ORPHA:40
Alagille Syndrome
Micrognathia, Long nose, Abnormal rib morphology, Short distal phalanx of finger, Hypoplasia of t... ORPHA:52
Laurin-Sandrow Syndrome
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Talipes, Aplasia/Hypoplasia... ORPHA:2378
Juberg-Hayward Syndrome
Toe syndactyly, Abnormality of the elbow, Hammertoe, Wide nose, Hypoplasia of the radius, Abnorma... ORPHA:2319
Spondylometaphyseal Dysplasia, Kozlowski Type
Abnormal ilium morphology, Short middle phalanx of finger, Genu varum, Short greater sciatic notc... ORPHA:93314
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Bicoronal synostosis, Tracheobronchomalacia, Long nose, Prominent nasal bridge, Joint hypermobili... OMIM:619184
Short-Rib Thoracic Dysplasia 12
Broad palm, Horizontal ribs, Hypoplastic scapulae, Bowing of the legs, Short finger, Limb undergr... OMIM:269860
Simpson-Golabi-Behmel Syndrome, Type 2
Broad palm, Talipes equinovarus, Tapered finger, Short finger, Wide nose, Short nose, Congenital ... OMIM:300209
Vitamin K Antagonist Embryofetopathy
Depressed nasal bridge, Epiphyseal stippling, Short nose, Short distal phalanx of finger, Antever... ORPHA:1914
Shprintzen-Goldberg Syndrome
Micrognathia, Pectus excavatum, Pectus carinatum, Bowing of the long bones, Craniosynostosis, Mis... ORPHA:2462
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Pectus excavatum, Short 5th metacarpal, Short nose, Prominent sternum, Sandal gap, 11 pairs of ri... OMIM:617877
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Hallux valgus, Talipes equinovarus, Epiphyseal dysplasia, Malar flattening, Pathologic fracture, ... OMIM:271640
Pde4D Haploinsufficiency Syndrome
Upper limb undergrowth, Short middle phalanx of finger, Short metatarsal, Short nose, Malar flatt... ORPHA:439822
Spondyloepimetaphyseal Dysplasia, Missouri Type
Small epiphyses, Genu varum, Tibial bowing, Radial bowing, Flared iliac wing, Rhizomelia, Ulnar b... OMIM:602111
Thanatophoric Dysplasia Type 1
Short greater sciatic notch, Abnormal sacroiliac joint morphology, Bowing of the long bones, Abno... ORPHA:1860
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hallux valgus, Talipes equinovarus, Spatulate thumbs, 11 pairs of ribs, Broad distal phalanges of... OMIM:245600
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Long palm, Missing ribs, Arachnodactyly, Wide nasal bridge, Abnormal rib morphology, Choanal atre... ORPHA:2759
Cranioectodermal Dysplasia 2
Micrognathia, Horizontal ribs, Depressed nasal bridge, Polydactyly, Pectus excavatum, Polysplenia... OMIM:613610
Camptodactyly Syndrome, Guadalajara, Type I
Hallux valgus, Short metatarsal, Cubitus valgus, Short nose, Malar flattening, Absent frontal sin... OMIM:211910
Camptodactyly Syndrome, Guadalajara Type 1
Toe syndactyly, Hallux valgus, Pectus excavatum, Depressed nasal bridge, Pectus carinatum, Mandib... ORPHA:1327
Mesomelia-Synostoses Syndrome
Malar flattening, Synostosis of joints, Bulbous nose, Abnormality of tibia morphology, Abnormalit... ORPHA:2496
Weismann-Netter Syndrome
Lateral femoral bowing, Fibular bowing, Anterior tibial bowing, Squared iliac bones OMIM:112350
Pycnodysostosis
Carious teeth, Obtuse angle of mandible, Hepatosplenomegaly, Increased bone mineral density, Hypo... ORPHA:763
Maxillonasal Dysplasia
Depressed nasal ridge, Depressed nasal bridge, Mandibular prognathia, Short columella, Short nose... ORPHA:1248
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Depressed nasal bridge, Ulnar deviation of finger, Short nose, Abnormality... ORPHA:1529
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Prominent nasal bridge, 11 pairs of ribs, Wide nasal bridge, Hyperextensibility of the finger joints OMIM:618356
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Short humerus, Proximal placement of thumb, Absent radius OMIM:314390
Dysostosis, Stanescu Type
Carious teeth, Pectus excavatum, Convex nasal ridge, Abnormality of epiphysis morphology, Bowing ... ORPHA:1798
Radial Ray Hypoplasia With Choanal Atresia
Depressed nasal bridge, Hypoplasia of the radius, Short thumb, Choanal stenosis, Small thenar emi... OMIM:179270
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Genu varum, Broad tibial metaphyses, Bowing of the legs, Metaphyseal widen... ORPHA:2502
Achondroplasia
Thoracic hypoplasia, Short middle phalanx of finger, Depressed nasal bridge, Bowing of the legs, ... ORPHA:15
Mesomelic Dysplasia, Kantaputra Type
Tarsal synostosis, Abnormality of the humerus, Ulnar deviation of finger, Cubitus valgus, Synosto... ORPHA:1836
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Micrognathia, Abnormality of primary molar morphology, Limb undergrowth, Recurrent mandibular sub... OMIM:225410
Robinow Syndrome, Autosomal Dominant 2
Micrognathia, Depressed nasal bridge, Short nose, Partial duplication of the phalanx of hand, Sho... OMIM:616331
Autosomal Dominant Spondylocostal Dysostosis
Posterior rib fusion, Missing ribs, Wide nasal bridge, Short thorax, Abnormal rib morphology, Ant... ORPHA:1797
Nail-Patella Syndrome
Pectus excavatum, Patellar aplasia, Hypoplastic radial head, Talipes equinovarus, Hypoplasia of f... OMIM:161200
14Q11.2 Microdeletion Syndrome
Toe syndactyly, Micrognathia, Depressed nasal bridge, Short nose, Toe clinodactyly ORPHA:261120
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Absent tibia, Talipes equinovarus, Mirror image foot polydactyly, Patellar hypoplasia, Bilateral ... OMIM:119800
Robinow Syndrome, Autosomal Recessive 1
Duplication of the distal phalanx of hand, Broad toe, Short nose, Malar flattening, Hypoplastic s... OMIM:268310
Spondyloepiphyseal Dysplasia Congenita
Abnormal foot morphology, Upper limb undergrowth, Micrognathia, Small epiphyses, Dysplasia of the... ORPHA:94068
Robinow Syndrome, Autosomal Recessive 2
Micrognathia, Broad nasal tip, Short nose, Wide nasal bridge, Mesomelia, Camptodactyly, Anteverte... OMIM:618529
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Thoracic hypoplasia, Depressed nasal bridge, Wide nasal bridge, Narrow chest, Flexion contracture... OMIM:619479
Thrombocytopenia-Absent Radius Syndrome
Genu varum, Talipes equinovarus, Phocomelia, Bilateral radial aplasia, Malar flattening, Finger s... OMIM:274000
Acromesomelic Dysplasia 1
Broad metatarsal, Broad metacarpals, Lower thoracic kyphosis, Radial bowing, Broad finger, Short ... OMIM:602875
Distal Trisomy 18Q
Carious teeth, Micrognathia, Pectus excavatum, Large hands, Short nose, Arachnodactyly, Prominent... ORPHA:1716
Weyers Ulnar Ray/Oligodactyly Syndrome
Micrognathia, Hand oligodactyly, Proximal radial head dislocation, Proximal placement of thumb, H... OMIM:602418
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Ophthalmomandibulomelic Dysplasia
Radial bowing, Decreased mobility 3rd-5th fingers, Temporomandibular joint ankylosis, Radioulnar ... OMIM:164900
Atelosteogenesis Type I
Micrognathia, Talipes equinovarus, Limb undergrowth, Rhizomelia, Abnormality of fibula morphology... ORPHA:1190
Ring Chromosome 8 Syndrome
Deviation of finger, Anteverted nares, Short nose ORPHA:1450
Camptodactyly Syndrome, Guadalajara Type 3
Broad nasal tip, Thickened cortex of long bones, Small hand, Distal shortening of limbs, Wide nas... ORPHA:488434
Spondyloepimetaphyseal Dysplasia, Shohat Type
Thoracic hypoplasia, Genu varum, Generalized bone demineralization, Bowing of the legs, Metaphyse... ORPHA:93352
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Depressed nasal ridge, Micrognathia, Abnormality of the calcaneus, Thin ribs, Hypoplastic iliac w... ORPHA:163966
Chikungunya
Synovitis, Epistaxis, Periostitis, Arthritis, Enthesitis, Joint stiffness, Stiff interphalangeal ... ORPHA:324625
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Depressed nasal ridge, Limb undergrowth, Joint contracture of the hand, Overlapping fingers, Camp... OMIM:601016
Otopalatodigital Syndrome Type 2
Short nose, Malar flattening, Increased bone mineral density, Camptodactyly of finger, Micrognath... ORPHA:90652
Orofaciodigital Syndrome Ix
Toe syndactyly, Camptodactyly, Short tibia, Hand polydactyly OMIM:258865
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Micrognathia, Mandibular aplasia, Short nose, Retrognathia, Anteverted nares ORPHA:1832
Pierpont Syndrome
Broad palm, Broad nasal tip, Short finger, Wide nose, Short nose, Malar flattening, Short foot, S... OMIM:602342
Mesomelic Dysplasia, Nievergelt Type
Tarsal synostosis, Abnormality of the ulna, Genu varum, Aplasia/Hypoplasia of the radius, Finger ... ORPHA:2633
Hypochondroplasia
Genu varum, Abnormality of femur morphology, Abnormality of the elbow, Bowing of the long bones, ... ORPHA:429
Seckel Syndrome 5
Large beaked nose, Micrognathia, Convex nasal ridge, Prominent nasal bridge, 11 pairs of ribs, Re... OMIM:613823
Yunis-Varon Syndrome
Short middle phalanx of finger, Short ribs, Syndactyly, Short toe, Anteverted nares, Abnormal pel... ORPHA:3472
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Nonopposable triphalangeal thumb, Micromelia, Hypoplasia of the radius ORPHA:2252
Hypophosphatemic Rickets, X-Linked Recessive
Tibial bowing, Fibular bowing, Thin bony cortex, Enlargement of the wrists, Bowing of the legs, R... OMIM:300554
Microphthalmia With Limb Anomalies
Toe syndactyly, Tibial bowing, Hand oligodactyly, Depressed nasal bridge, Talipes equinovarus, Ca... OMIM:206920
Tetraamelia-Multiple Malformations Syndrome
Micrognathia, Missing ribs, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia involving t... ORPHA:3301
Chung-Jansen Syndrome
Micrognathia, Tapered finger, Short nose, Joint hypermobility, Anteverted nares, Clinodactyly OMIM:617991
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Neutropenia, Limb undergrowth, Short nose, Wide nasal bridge, Osteopenia, Hip dislocation, Flexio... OMIM:618005
Temtamy Preaxial Brachydactyly Syndrome
Cutaneous finger syndactyly, Tibial deviation of the 2nd toe, Short nose, Hypoplasia of the maxil... ORPHA:363417
Microcephaly, Short Stature, And Limb Abnormalities
Convex nasal ridge, Patellar aplasia, Dislocated radial head, Hypoplasia of the radius, Short met... OMIM:617604
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia of the phalanges of the toes, Decreased calvarial ossification, Aplasia/hypopl... OMIM:276820
Orofaciodigital Syndrome X
Fibular aplasia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly OMIM:165590
Robin Sequence With Cleft Mandible And Limb Anomalies
Tibial deviation of toes, Talipes equinovarus, Short phalanx of finger, Proximal placement of thu... OMIM:268305
Steinfeld Syndrome
Aplasia of the nose, Phocomelia, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the... OMIM:184705
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Cone-shaped epiphysis, Mandibular prognathia, Short metatarsal, Short nos... OMIM:614613
Shox-Related Short Stature
Micrognathia, Tibial bowing, Lower limb undergrowth, Genu valgum, Short foot, Ulnar radial head d... ORPHA:314795
Osteogenesis Imperfecta, Type X
Micrognathia, Thin ribs, Bowing of the long bones, Generalized joint laxity, Malar flattening, Os... OMIM:613848
Ruvalcaba Syndrome
Convex nasal ridge, Cone-shaped epiphysis, Abnormality of the elbow, Pectus carinatum, Short nose... ORPHA:3121
Platyspondylic Dysplasia, Torrance Type
Abnormality of the carpal bones, Genu varum, Depressed nasal bridge, Hypoplastic scapulae, Bowing... ORPHA:85166
Acromesomelic Dysplasia 4
Genu varum, Short metatarsal, Broad toe, Metaphyseal irregularity, Short toe, Thoracic scoliosis,... OMIM:619636
Brachymesomelia-Renal Syndrome
Micrognathia, Depressed nasal bridge, Mesomelic arm shortening, Ulnar bowing, Fibular hypoplasia,... OMIM:113470
Raine Syndrome
Thoracic hypoplasia, Micrognathia, Pectus excavatum, Depressed nasal bridge, Mandibular prognathi... OMIM:259775
Disorder Of Sex Development-Intellectual Disability Syndrome
Short nose, Short thorax, Reduced bone mineral density, Genu valgum, Spina bifida occulta ORPHA:2983
Codas Syndrome
Depressed nasal bridge, Abnormality of epiphysis morphology, Short nose, Abnormal dental enamel m... ORPHA:1458
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Horizontal ribs, Lateral clavicle hook, Pectus carinatum, Polysyndactyly of hallux, Disproportion... OMIM:263520
Developmental And Epileptic Encephalopathy 73
Short nose, Hip dysplasia, Narrow nasal bridge, Flexion contracture OMIM:618379
Spondyloepiphyseal Dysplasia, Kimberley Type
Abnormality of epiphysis morphology, Osteoarthritis, Micromelia, Short thorax ORPHA:93283
Opsismodysplasia
Metaphyseal cupping, Anterior rib cupping, Depressed nasal bridge, Rhizomelia, Short nose, Poster... OMIM:258480
Sponastrime Dysplasia
Neutropenia, Metaphyseal irregularity, Short nose, Obtuse angle of mandible, Hip subluxation, Sha... ORPHA:93357
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Neutropenia, Short thorax, Limited elbow extension, Anteverted nares, Abno... ORPHA:175
Brachytelephalangic Chondrodysplasia Punctata
Depressed nasal ridge, Broad nasal tip, Epiphyseal stippling, Short distal phalanx of toe, Nasal ... ORPHA:79345
Hall-Riggs Syndrome
Prominent nose, Abnormality of epiphysis morphology, Limb undergrowth, Abnormal dental enamel mor... ORPHA:2107
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Micrognathia, Absent or minimally ossified vertebral bodies, Depressed nasal bridge, Wide nose, S... ORPHA:93271
Spinocerebellar Ataxia-Dysmorphism Syndrome
Short nose, Cubitus valgus, Reduced bone mineral density, Slender long bone, Anteverted nares, Sp... ORPHA:1185
Microphthalmia With Limb Anomalies
Talipes equinovarus, Finger syndactyly, Short long bone, Short tibia, Toe syndactyly, Micrognathi... ORPHA:1106
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... OMIM:608940
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia of the nose, Phocomelia, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the... ORPHA:3186
Noonan Syndrome 12
Pectus excavatum, Proximal placement of thumb, 11 pairs of ribs, Lymphopenia, Thrombocytopenia OMIM:618624
Mandibuloacral Dysplasia With Type B Lipodystrophy
Micrognathia, Convex nasal ridge, Short nose, Osteolytic defects of the distal phalanges of the h... ORPHA:90154
Craniodigital-Intellectual Disability Syndrome
Micrognathia, Short nose, Finger syndactyly, Narrow nasal bridge, Spina bifida occulta ORPHA:1514
Slc35A2-Cdg
Metatarsus adductus, Talipes equinovarus, Aplasia/hypoplasia involving bones of the extremities, ... ORPHA:356961