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Gene: Xylt1 MGI:2451073

Gene Summary

Name:

xylosyltransferase 1

Synonyms:

N/A

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal facial morphology	Xylt1^em1(IMPC)J	HOM	E18.5	0.00
abnormal limb morphology	Xylt1^em1(IMPC)J	HOM	E18.5	0.00
preweaning lethality, complete penetrance	Xylt1^em1(IMPC)J	HOM	Early adult	0.00
decreased thigmotaxis	Xylt1^em1(IMPC)J	HET	Early adult	8.92×10^-05
abnormal behavior	Xylt1^em1(IMPC)J	HET	Early adult	8.92×10^-05

Download data as: TSV XLS

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Viewing: all phenotypes

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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

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MicroCT E18.5

Embryo reconstruction

6 Images

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Auditory Brain Stem Response

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

8 Images

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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.

Human diseases associated with Xylt1 (4 diseases)
Human diseases predicted to be associated with Xylt1 (970 diseases)

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

Disease	Matching phenotypes	Source
Desbuquois Syndrome	Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Coxa valga, Elbow dislocation,...	ORPHA:1425
Desbuquois Dysplasia 2	Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phal...	OMIM:615777
Xylt1-Cdg	Pes planus, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, ...	ORPHA:370930
Pseudoxanthoma Elasticum		OMIM:264800

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

Disease	Matching phenotypes	Source
Coxa Vara	Coxa vara	OMIM:122750
Hypoplastic Femurs And Pelvis	Short femur, Hypoplastic pelvis	OMIM:619545
Blount Disease, Infantile	Genu varum, Abnormality of the proximal tibial epiphysis	OMIM:188700
Syndactyly Type 4	1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ...	ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication	OMIM:188740
Rhizomelic Chondrodysplasia Punctata, Type 3	Short humerus, Short femur, Rhizomelia, Epiphyseal stippling	OMIM:600121
Rhizomelic Dysplasia, Ain-Naz Type	Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap...	OMIM:619598
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia	OMIM:246570
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Tibial Torsion, Bilateral Medial	Bowing of the legs, Tibial torsion	OMIM:188800
Chondrodysplasia, Blomstrand Type	Depressed nasal bridge, Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones...	OMIM:215045
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida...	OMIM:201250
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in...	ORPHA:75508
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ...	OMIM:200700
Metatropic Dysplasia	Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ...	OMIM:156530
Metaphyseal Anadysplasia 2	Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit...	OMIM:613073
Blount Disease	Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis...	ORPHA:2768
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ...	OMIM:118651
Tibial Hemimelia	Absent tibia	OMIM:275220
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck...	OMIM:249700
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Brachydactyly, Anteverted nares, Depressed nasal bridge, Metaphyseal widening, Squared iliac bone...	OMIM:618961
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros...	ORPHA:85188
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Osseous Heteroplasia, Progressive	Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue	OMIM:166350
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ...	OMIM:112910
Acromesomelic Dysplasia, Grebe Type	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr...	ORPHA:2098
Caffey Disease	Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon...	OMIM:114000
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Achondrogenesis Type 2	Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili...	ORPHA:93296
Axial Spondylometaphyseal Dysplasia	Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal...	ORPHA:168549
Mesomelic Dysplasia, Savarirayan Type	Abnormal foot morphology, Talipes equinovalgus, Hip dislocation, Mesomelia, Short tibia, Dislocat...	OMIM:605274
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia	Delayed vertebral ossification, Metaphyseal dysplasia, Enlarged epiphyses, Thoracic kyphoscoliosi...	OMIM:613330
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Fgfr2-Related Bent Bone Dysplasia	Osteopenia, Natal tooth, Extramedullary hematopoiesis, Hypoplastic ischia, Bowing of the legs, Mi...	ORPHA:313855
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Van Bogaert-Hozay Syndrome	Depressed nasal bridge, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand,...	OMIM:277150
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Acrodysostosis	Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu...	ORPHA:950
Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma	Periostosis, Large hands, Mandibular prognathia	OMIM:102100
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Achondrogenesis, Type Ib	Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodi...	OMIM:600972
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Hyperparathyroidism, Transient Neonatal	Osteopenia, Short femur, Anteverted nares, Metaphyseal spurs, Recurrent fractures, Depressed nasa...	OMIM:618188
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy...	ORPHA:1856
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Absent radius, Elbow dislocation,...	OMIM:171480
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later...	OMIM:269250
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Depressed nasal brid...	OMIM:151210
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Eiken Syndrome	Abnormal trabecular bone morphology, Thin bony cortex, Abnormal acetabulum morphology, Epiphyseal...	ORPHA:79106
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Wide nose, Iliac crest serration, Anteverted nares, Micromelia, Depressed nasal bridge, Wide dist...	OMIM:613320
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Caffey Disease	Calvarial hyperostosis, Cortical thickening of long bone diaphyses, Cortical irregularity, Perios...	ORPHA:1310
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia	Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C...	OMIM:609324
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Rhizomelic Dysplasia, Patterson-Lowry Type	Mandibular prognathia, Short humerus, Short metacarpal, Wide nose, Rhizomelia, Depressed nasal ri...	ORPHA:2831
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met...	OMIM:602471
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Anteverted nares, Decreased fi...	OMIM:616897
Greenberg Dysplasia	Micromelia, Micrognathia, Multiple prenatal fractures, Hypoplasia of the maxilla, Patchy variatio...	OMIM:215140
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Prieto Syndrome	11 pairs of ribs, Coxa valga, Prominent nose, Osteoporosis, Talipes equinovarus, Radial deviation...	OMIM:309610
Fibrochondrogenesis 2	Anteverted nares, Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal w...	OMIM:614524
Thoracomelic Dysplasia	Elbow dislocation, Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyperflexib...	ORPHA:1803
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal nasal morphology...	ORPHA:2878
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebral hypoplasia...	OMIM:108720
Rhizomelic Chondrodysplasia Punctata, Type 2	Osteopenia, Short humerus, Rhizomelia, Anteverted nares, Depressed nasal bridge, Micrognathia, Fl...	OMIM:222765
Kyphomelic Dysplasia	Bowing of the long bones, Anterior rib cupping, Micromelia, Joint stiffness, Micrognathia, Missin...	ORPHA:1801
Epiphyseal Dysplasia, Multiple, 7	Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace...	OMIM:617719
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Epiphyseal Dysplasia, Multiple, 5	Epiphyseal dysplasia, Short metacarpal, Coxa vara, Genu valgum, Irregular epiphyses, Small epiphy...	OMIM:607078
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Raine Syndrome	Mandibular prognathia, Natal tooth, Bowing of the long bones, Increased bone mineral density, Dep...	OMIM:259775
Brachydactyly Type A2	Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short foot, Short middle phalanx of f...	ORPHA:93396
Spondyloepimetaphyseal Dysplasia, Missouri Type	Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small...	ORPHA:93356
Spondylometaphyseal Dysplasia, Corner Fracture Type	Hypoplasia of the odontoid process, Coxa vara, Short femoral neck, Corner fracture of metaphysis,...	OMIM:184255
Mental Retardation Syndrome, Mietens-Weber Type	Elbow flexion contracture, Forearm undergrowth, Absent proximal radial epiphyses, Narrow nose, Di...	OMIM:249600
Blomstrand Lethal Chondrodysplasia	Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Increased bone mineral ...	ORPHA:50945
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Pectus carinatum, Barrel-shaped chest, ...	OMIM:271700
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Forearm undergrowth, Convex nasal ridge, Lower limb undergrowth	OMIM:218650
Bone Dysplasia, Lethal Holmgren Type	Metaphyseal dysplasia, Rhizomelia, Anteverted nares, Micromelia, Abnormality of the hand, Abnorma...	ORPHA:1842
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Depressed nasal ridge, T...	OMIM:300863
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp...	OMIM:228520
Fibular Hemimelia	Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol...	ORPHA:93323
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Depressed nasal ridge, Triangular shaped distal pha...	OMIM:271665
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Micrognathia, ...	OMIM:617866
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl...	OMIM:113310
Dysosteosclerosis	Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b...	OMIM:224300
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Micromelia, Splenomegaly, Delayed epiphyseal ossification, Flared metaphysis, Verte...	OMIM:602557
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum...	OMIM:617405
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Anteverted nares, Micrognathia, Wide anterior fontanel, Ulnar bowing, Sho...	OMIM:619135
Achondrogenesis, Type Ii	Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S...	OMIM:200610
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Clubbing	OMIM:614441
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Micromelia, Joint stiffness, Metatarsus adductus, E...	ORPHA:2249
Autosomal Dominant Omodysplasia	Short humerus, Rhizomelia, Depressed nasal bridge, Micrognathia, Elbow dislocation, Short palm, M...	ORPHA:93328
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Micrognath...	OMIM:227270
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Genu varum, Patellar hypoplasia, Short femoral neck, Broad femoral neck, Ir...	OMIM:609325
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, 2-3 toe...	OMIM:600920
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Joint laxity, Hypoplasia of the ulna, Tapered finger, Hip dislocation, Thin ribs, Delayed ossific...	OMIM:618395
Dyssegmental Dysplasia, Rolland-Desbuquois Type	Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Metaphyseal widening, Limit...	OMIM:224400
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic...	ORPHA:3258
Bent Bone Dysplasia Syndrome 2	Osteopenia, Ulnar deviation of the hand, Bowed humerus, Depressed nasal bridge, Ulnar bowing, Fem...	OMIM:620076
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Achondrogenesis Type 1A	Multiple rib fractures, Anteverted nares, Recurrent fractures, Micromelia, Abnormal enchondral os...	ORPHA:93299
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Reduced bone mineral density, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal met...	ORPHA:2370
Atelosteogenesis Type Ii	Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Broad met...	ORPHA:56304
Metaphyseal Chondrodysplasia, Schmid Type	Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim...	ORPHA:174
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Osteopenia, Osteomyelitis, Neutrophilia, Abscess, Splenomegaly, Periostitis, Osteolysis, Fused ce...	OMIM:612852
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Subperiosteal bone formation, Osteosclerosis of the base of the skull	OMIM:609993
Metaphyseal Chondrodysplasia, Jansen Type	Osteopenia, Hip contracture, Bowing of the long bones, Choanal atresia, Micrognathia, Metaphyseal...	OMIM:156400
Achondrogenesis Type 1B	Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossification, Short thorax, Abnor...	ORPHA:93298
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Rhizomelia, Anteverted nares, Micromelia, Craniosynostosis, Mi...	ORPHA:93329
3M Syndrome	Congenital hip dislocation, Micromelia, Enlarged thorax, Clinodactyly of the 5th finger, Hypoplas...	ORPHA:2616
Kyphomelic Dysplasia	Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat...	OMIM:211350
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact...	OMIM:612576
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,...	OMIM:601438
Ophthalmomandibulomelic Dysplasia	Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Limitation of j...	ORPHA:2741
Hypophosphatasia, Infantile	Micromelia, Bowing of the legs, Craniosynostosis, Increased susceptibility to fractures, Anemia, ...	OMIM:241500
Pseudoachondroplasia	Limited hip extension, Distal joint laxity, Metaphyseal widening, Delayed epiphyseal ossification...	ORPHA:750
Rhizomelic Chondrodysplasia Punctata, Type 5	Short humerus, Swan neck-like deformities of the fingers, Thoracic scoliosis, Coxa vara, Contract...	OMIM:616716
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
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Greenberg Dysplasia	Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi...	ORPHA:1426
Pyknoachondrogenesis	Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ...	ORPHA:3003
Omodysplasia 2	Short humerus, Depressed nasal bridge, Micrognathia, Bifid nasal tip, Wide nasal bridge, Fibular ...	OMIM:164745
Lethal Recessive Chondrodysplasia	Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Narrow chest, Flared elbow...	ORPHA:1423
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Micromelia, Postaxial hand polydactyly, Split hand, Abnormality of the elbow, Apla...	ORPHA:2491
Brachydactyly-Syndactyly, Zhao Type	Hallux valgus, Toe syndactyly, Short fifth metatarsal, Short middle phalanx of the 2nd finger, Sy...	ORPHA:93409
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Three M Syndrome 1	Mandibular prognathia, Scapular winging, Anteverted nares, Depressed nasal bridge, Pectus excavat...	OMIM:273750
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Depressed nasal bridge, Aplasia/Hypoplasia of the fibu...	ORPHA:2256
Pallister-Hall-Like Syndrome	Toe syndactyly, Depressed nasal bridge, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip...	OMIM:241800
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction	Short metacarpal, Short hallux, Hallux varus, Short thumb, Short metatarsal, Hitchhiker thumb, Sh...	OMIM:112450
Epiphyseal Dysplasia, Multiple, 4	Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip...	OMIM:226900
Cleidocranial Dysplasia 1	Micrognathia, Short middle phalanx of the 2nd finger, Absent frontal sinuses, Coxa vara, Narrow c...	OMIM:119600
Fetal Akinesia Deformation Sequence 4	11 pairs of ribs, Rocker bottom foot, Micrognathia, Wide nasal bridge, Camptodactyly, Neonatal de...	OMIM:618393
Spondylometaphyseal Dysplasia, Sedaghatian Type	Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p...	OMIM:250220
Metatropic Dysplasia	Depressed nasal bridge, Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Jo...	ORPHA:2635
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap...	ORPHA:2557
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Micrognathia, Capitate-hamate fusion, Short toe, Limited elbow extension, Wide ...	OMIM:614078
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Wide nose, Micrognathia, Malar flattening, Clinodactyly, Thick nasal alae	ORPHA:357175
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Hand monoda...	OMIM:609945
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Thoracic hypoplasia, Postaxial polydactyly, Micromelia, Hypop...	OMIM:617895
Spondyloepimetaphyseal Dysplasia, Irapa Type	Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal carpal morph...	ORPHA:93351
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor...	ORPHA:1263
Orofaciodigital Syndrome Type 10	Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor...	ORPHA:2756
Mucolipidosis Iii Alpha/Beta	Mandibular prognathia, Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregula...	OMIM:252600
Achondrogenesis	Anteverted nares, Micromelia, Micrognathia, Abnormal enchondral ossification, Short thorax, Abnor...	ORPHA:932
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Wide nose, Micrognathia, Malar flattening, Clinodactyly, Thick nasal alae	OMIM:615162
Acromesomelic Dysplasia 2B	Short metacarpal, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Absent toe, Short meta...	OMIM:228900
Holt-Oram Syndrome	Syndactyly, Hypoplasia of the ulna, Short humerus, Thoracic scoliosis, Aplasia of the ulna, Absen...	OMIM:142900
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome	Periostitis, Osteomyelitis	ORPHA:2218
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Hip dislocation, Hig...	ORPHA:85170
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Spondyloepiphyseal Dysplasia, Nishimura Type	Delayed epiphyseal ossification, Osteoarthritis, Small hand, Cone-shaped epiphysis, Short nose, B...	OMIM:618618
Distal Duplication 5Q	Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Absent thumb, Micrognathia, Car...	ORPHA:96097
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Hypoplasia of t...	OMIM:212780
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
Polydactyly, Postaxial, Type A7	Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous...	OMIM:617642
Microcephaly-Micromelia Syndrome	Wide nose, Micromelia, Absent thumb, Absent radius, Craniosynostosis, Micrognathia, Humeroradial ...	OMIM:251230
Diaphanospondylodysostosis	Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ossified ver...	ORPHA:66637
Orofaciodigital Syndrome Viii	Syndactyly, Short tibia, Polydactyly	OMIM:300484
17Q21.31 Microduplication Syndrome	Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Clinodactyly of the 5th finger, Malar...	ORPHA:217340
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Short humerus, Bowing of the long bones, Increased bone mineral density, Barrel-shape...	OMIM:239000
Achondroplasia	Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, Bowing of the legs,...	OMIM:100800
Spondylometaphyseal Dysplasia, Type A4	Brachydactyly, Coxa valga, Metaphyseal sclerosis, Enlargement of the costochondral junction, Meta...	OMIM:609052
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Cupped...	OMIM:250420
Cooper-Jabs Syndrome	Anteverted nares, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal ri...	ORPHA:1488
Astley-Kendall Dysplasia	Epiphyseal stippling, Micromelia	ORPHA:85175
Poland Syndrome	Syndactyly, Unilateral oligodactyly, Unilateral brachydactyly, Rib fusion, Short ribs, Sprengel a...	OMIM:173800
Seckel Syndrome 4	Steep acetabular roof, Retrognathia, 11 pairs of ribs, Underdeveloped nasal alae	OMIM:613676
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Intellectual Developmental Disorder, X-Linked 91	Small hand, Short foot, Short 5th finger, Cubitus valgus, Clinodactyly, Short nose	OMIM:300577
Familial Osteodysplasia, Anderson Type	Mandibular prognathia, Failure of eruption of permanent teeth, Recurrent fractures, Aplastic clav...	ORPHA:2769
Fibrochondrogenesis	Hypoplastic scapulae, Anteverted nares, Camptodactyly of finger, Micromelia, Depressed nasal brid...	ORPHA:2021
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Metaphyseal Chondrodysplasia, Schmid Type	Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia, Metaphyseal widening, Met...	OMIM:156500
Dyssegmental Dysplasia, Silverman-Handmaker Type	Broad long bones, Micromelia, Bowing of the legs, Hypoplastic ilia, Micrognathia, Flexion contrac...	ORPHA:1865
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Rhizomelia, Postaxial polydactyly, Prominent nose, Horizontal rib...	OMIM:616300
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Bowing of the long bones, Thin bony cortex, Bulging epiphyses, Rickets of the lower limbs, Delaye...	OMIM:600785
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Rothmund-Thomson Syndrome	Osteopenia, Hypoplasia of the ulna, Abnormal trabecular bone morphology, Delayed eruption of teet...	ORPHA:2909
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Osteopenia, Hypoplasia of the ulna, Anteverted nares, Depressed nasal bridge, Pectus excavatum, O...	OMIM:615398
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Diabetes Insipidus, Neurohypophyseal	Osteopenia, Wide nose, Short nose	OMIM:125700
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Craniosynostosis, Micromelia, Micrognathia, Split hand, Abnormal rib morpholog...	ORPHA:2145
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Splenomegaly, Abnormal limb bone morphology, Limb undergrowth, Ab...	ORPHA:2204
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Coxa valga, Micrognathi...	ORPHA:163649
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia...	OMIM:187600
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas...	ORPHA:3144
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Osteoarthritis, Short metatarsal, ...	OMIM:251450
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperostosis, Subperiosteal bone formation, Taurodontia, Pulp calcification, Enamel hypoplasia	OMIM:211900
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Horizontal ribs, Lateral clavicle hook, Early ossification of capital fem...	OMIM:208500
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Cranioectodermal Dysplasia 1	Single transverse palmar crease, Narrow chest, Joint laxity, Rhizomelia, Anteverted nares, Sagitt...	OMIM:218330
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Lateral clavicle hook, Splenomegaly, Postaxial hand polydactyly, Cone-shaped epiphyses of the pha...	OMIM:615630
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Limitation of joint mobility, Upper limb undergrowth, Short foot, Concave nasal ridge, Toe clinod...	ORPHA:166277
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Join...	OMIM:268310
Endosteal Hyperostosis, Worth Type	Mandibular prognathia, Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal rib morpho...	ORPHA:2790
Thrombocytopenia-Absent Radius Syndrome	Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly o...	OMIM:274000
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Depressed nasal bridge, Postaxial polydactyly, Micrognathia, Lateral clavicle hook, ...	OMIM:617925
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Osteopenia, 11 pairs of ribs, Sandal gap, Anteverted nares, Pectus excavatum, Short toe, Anterior...	OMIM:617877
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Reduced bone mineral den...	ORPHA:2911
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Micrognathia, Fibular hypoplasia, Talipes equinovarus, Triphal...	OMIM:201170
Acro-Renal-Mandibular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Abnormal clavicle morphology, Mi...	ORPHA:958
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Pseudoarthrosis	OMIM:618155
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Metaphyseal dysplasia, Congenital hip...	OMIM:600373
Thoracolaryngopelvic Dysplasia	Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ...	OMIM:187760
Terminal Osseous Dysplasia	Syndactyly, Multiple joint contractures, Camptodactyly of finger, Abnormal hand bone ossification...	OMIM:300244
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Anemia of inadequate production, Absent thumb, Unilateral radial aplasia,...	OMIM:614900
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargement of the ...	OMIM:600081
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Prominent nasal bridge, Aplasia/Hypoplasia of the...	OMIM:613803
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Joint stiffness, Bulbous nose, Small hand, Abnormal femur mor...	ORPHA:969
W Syndrome	Hypoplasia of the ulna, Radial bowing, Depressed nasal bridge, Broad nasal tip, Metatarsus adduct...	ORPHA:2804
Femoral-Facial Syndrome	Short femur, Micrognathia, Coxa vara, Abnormal fibula morphology, Abnormal pelvic girdle bone mor...	ORPHA:1988
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Convex nasal ridge, Brachydac...	ORPHA:1277
Diastrophic Dysplasia	Abnormal clavicle morphology, Bowing of the long bones, Increased bone mineral density, Depressed...	ORPHA:628
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6	Osteopenia, Hip contracture, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Elbow flex...	OMIM:616809
Heart-Hand Syndrome Type 2	Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro...	ORPHA:1350
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo...	ORPHA:83451
Odontochondrodysplasia	Delayed eruption of teeth, Bowing of the long bones, Depressed nasal bridge, Micromelia, Coxa val...	ORPHA:166272
Meier-Gorlin Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fossa, Flexion contr...	OMIM:224690
Osteosclerosis With Ichthyosis And Fractures	Femoral bowing, Cortical thickening of long bone diaphyses, Tibial bowing	OMIM:166740
Trochlea Of The Humerus, Aplasia Of	Short humerus	OMIM:191000
Melnick-Needles Syndrome	Delayed eruption of teeth, Short humerus, Obtuse angle of mandible, Hypoplastic scapulae, Coxa va...	OMIM:309350
Heyn-Sproul-Jackson Syndrome	11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals	OMIM:618724
Ollier Disease	Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis...	ORPHA:296
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Small cervical vertebral bodies, Abnormal acetabulum morphology, Depressed nasal bridge, Long cla...	ORPHA:397715
Thoracic Dysostosis, Isolated	Pectus excavatum, Short ribs, Bell-shaped thorax	OMIM:187750
Congenital Disorder Of Glycosylation, Type Ig	Short humerus, Wide nose, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the radius, Recurren...	OMIM:607143
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Anosmia, Epiphyseal stippling, Short nose, Short nasal septum, Short dist...	OMIM:302950
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Craniosynosto...	ORPHA:171839
Grant Syndrome	Tibial bowing, Down-sloping shoulders, Micrognathia	OMIM:138930
Occipital Horn Syndrome	Joint laxity, Short humerus, Pelvic bone exostoses, Coxa valga, Broad clavicles, Capitate-hamate ...	OMIM:304150
Infantile-Onset X-Linked Spinal Muscular Atrophy	Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r...	ORPHA:1145
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Preaxial polydactyly, Shoulder dislocation, Choanal stenosis, Tr...	OMIM:607323
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Proximal phalangeal periosteal thickening, Clubbing, Osteolytic defects of the phalanges of the h...	OMIM:161700
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Epiphyseal Dysplasia, Baumann Type	Carpal bone aplasia, Pes planus, Epiphyseal dysplasia, Hypoplasia of the femoral head, Long finge...	OMIM:610797
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Thoracic hypoplasia, Lateral cl...	OMIM:613091
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Syndactyly, Bowing of the long bones, Hypoplastic scapulae, Micromelia, Postaxial polydactyly, Fl...	OMIM:614091
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Hypoplasia of t...	ORPHA:246
Vitamin D-Dependent Rickets, Type 2A	Delayed eruption of teeth, Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of th...	OMIM:277440
Opsismodysplasia	Abnormally ossified vertebrae, Depressed nasal bridge, Tapered finger, Joint stiffness, Pectus ex...	ORPHA:2746
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Down-sloping shoulders, Palmar pits, Irregular ossificat...	OMIM:109400
Acrocephalopolydactyly	Depressed nasal ridge, Hepatosplenomegaly, Short long bone, Limb undergrowth, Short nose, Thoraci...	ORPHA:221054
Diaphanospondylodysostosis	Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Depressed nasal...	OMIM:608022
Atelosteogenesis, Type Ii	Sandal gap, Depressed nasal bridge, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around...	OMIM:256050
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Mesomelic le...	OMIM:249710
Acrodysostosis 2 With Or Without Hormone Resistance	Mandibular prognathia, Short metacarpal, Anteverted nares, Depressed nasal bridge, Short metatars...	OMIM:614613
Thoracomelic Dysplasia	Bell-shaped thorax, Short ribs	OMIM:273740
Weaver Syndrome	Mandibular prognathia, Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus d...	OMIM:277590
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Absent ossification of c...	OMIM:166210
Orofaciodigital Syndrome Iv	Toe syndactyly, Postaxial polydactyly, Micrognathia, Hand polydactyly, Foot polydactyly, Short fi...	OMIM:258860
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Hallermann-Streiff Syndrome	Natal tooth, Recurrent fractures, Tracheomalacia, Micrognathia, Choanal atresia, Underdeveloped n...	ORPHA:2108
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Aplasia/Hypoplasia of the...	ORPHA:1040
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Limited hip extension, Flexion contracture, Tibial bowing, Shoulder dislocation, Short phalanx of...	OMIM:143095
Odontochondrodysplasia 1	Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of finger, Genu v...	OMIM:184260
Cerebrocostomandibular Syndrome	11 pairs of ribs, Short humerus, 10 pairs of ribs, Congenital hip dislocation, Calcaneal epiphyse...	OMIM:117650
Omodysplasia 1	Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn...	OMIM:258315
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:96334
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Choanal stenosis, Spina bifida occulta...	OMIM:218600
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Short femur, Foot oligodactyly, Amelia	OMIM:601357
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly	Abnormality of the epiphyses of the elbow, Osteoarthritis, Abnormality of radial epiphyses, Arthr...	ORPHA:166002
Acro-Renal-Ocular Syndrome	Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol...	ORPHA:959
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Aplasia/hypoplasia of the humerus, Absent radius, Coxa valga, ...	ORPHA:3320
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Capitate-hamate fusion, Postaxial hand polydactyly, Genu ...	OMIM:225500
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Osteopenia, Metaphyseal dysplasia, Epiphyseal dysplasia, Depressed nasal bridge, Craniosynostosis...	OMIM:614732
Fatco Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma...	ORPHA:2492
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed eruption of teeth, Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of th...	OMIM:264700
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Clubbing of fingers, Periosteal thickening of long tubular bones	OMIM:167100
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Elbow contracture, Micrognathia, Short metatarsal, Tibial bowing, Fem...	OMIM:304120
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Osteopenia, Micrognathia, Short metatarsal, Narrow chest, Clinodactyly of the 5th finger, Short p...	OMIM:266920
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Enlargement of the ...	OMIM:241530
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Syndactyly, Depressed nasal bridge, Postaxial polydactyly, Lateral clavicle hook, Preaxial polyda...	OMIM:615503
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly	Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Narrow chest, M...	OMIM:611263
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Prominent nasal bridge, Hand oligodactyly, Fibular hypoplas...	ORPHA:1788
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Increased density of long bones, Single transverse palmar crease...	OMIM:269150
Campomelic Dysplasia	Poorly ossified cervical vertebrae, 11 pairs of ribs, Bowing of the long bones, Depressed nasal b...	ORPHA:140
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Short tubular ...	ORPHA:56305
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Ulnar deviation of the wrist, Anteverted nares, Micrognathia, Unilambdoid synostosis, Wide nasal ...	OMIM:618577
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Multiple Epiphyseal Dysplasia, Lowry Type	Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Delayed epiphyseal ossification, F...	ORPHA:166016
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Prominent nose, Delayed epiphyseal oss...	OMIM:210710
Femoral-Facial Syndrome	Short fourth metatarsal, Limited elbow movement, Micrognathia, Humeroradial synostosis, Absent ve...	OMIM:134780
Osteogenesis Imperfecta, Type Xvi	Angulated humerus, Osteopenia, Bowing of the long bones, Microretrognathia, Rhizomelia, Recurrent...	OMIM:616229
Osteoglophonic Dysplasia	Osteopenia, Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,...	OMIM:166250
Pelvis-Shoulder Dysplasia	Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Long clavicles, ...	ORPHA:2839
Thoracopelvic Dysostosis	Short ribs	OMIM:187770
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Osteopenia, Short metacarpal, Short fourth metatarsal, Overlapping toe, Depressed nasal bridge, C...	OMIM:616723
Vitamin K Antagonist Embryofetopathy	Anteverted nares, Depressed nasal bridge, Choanal atresia, Epiphyseal stippling, Short nose, Shor...	ORPHA:1914
Pfeiffer Syndrome	Mandibular prognathia, Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the f...	OMIM:101600
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Dental malocclusion, Short columella, Short nose, Short distal phalanx of...	OMIM:155050
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Thrombocytopenia, Abnormal thorax mor...	ORPHA:508542
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ...	ORPHA:1352
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, ...	ORPHA:83
Rhizomelic Chondrodysplasia Punctata	Rhizomelia, Limitation of joint mobility, Epiphyseal stippling, Abnormal epiphysis morphology, Li...	ORPHA:177
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Broad toe, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phalanges of the...	OMIM:609616
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Osteopenia, Short fourth metatarsal, Tibial metaphyseal irregularity, Coxa vara, Flattened femora...	ORPHA:457395
Coxoauricular Syndrome	Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe...	ORPHA:1508
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Micrognathia	ORPHA:2015
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Choanal atresia, Micrognathia, Pe...	OMIM:263750
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay	11 pairs of ribs, Hip contracture, Anteverted nares, Micrognathia, Metatarsus adductus, Calcaneov...	OMIM:616266
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hypoplastic scapulae, Bowing of the legs, Splenomegaly, Short toe, Short thorax, Bro...	OMIM:269860
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Osteopenia, Mandibular prognathia, Metaphyseal widening, Laryngotracheomalacia, Coxa vara, Thorac...	OMIM:271510
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas...	ORPHA:2639
Focal Dermal Hypoplasia	Narrow nasal bridge, Finger syndactyly, Toe syndactyly, Camptodactyly of finger, Abnormal dental ...	ORPHA:2092
Short Stature, Brussels Type	Microretrognathia, Delayed epiphyseal ossification, Narrow chest, Calcification of cartilage	ORPHA:2867
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Cdags Syndrome	Sagittal craniosynostosis, Short clavicles, Lambdoidal craniosynostosis, Short ribs, Malar flatte...	OMIM:603116
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Osteopenia, Micrognathia, Pectus carinatum, Shoulder dislocation, Narrow chest, Dislocated radial...	OMIM:245600
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contracture, Short metatars...	ORPHA:93307
Juberg-Hayward Syndrome	Wide nose, Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abn...	ORPHA:2319
Seckel Syndrome 1	Ivory epiphyses, 11 pairs of ribs, Pancytopenia, Sandal gap, Abnormal finger flexion crease, Sing...	OMIM:210600
Cono-Spondylar Dysplasia	Short humerus, Epiphyseal dysplasia, Anteverted nares, Cone-shaped epiphyses of the phalanges of ...	ORPHA:420794
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Narrow nasal bridge, Broad hallux, Depressed nasal bridge, Clinodactyly of the ...	OMIM:620073
Alagille Syndrome	Hypoplasia of the ulna, Micrognathia, Long nose, Abnormal rib morphology, Clinodactyly of the 5th...	ORPHA:52
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h...	OMIM:200980
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Increased suscepti...	ORPHA:561
Non-Distal Duplication 10Q	Depressed nasal bridge, Micrognathia, Pectus excavatum, Joint hyperflexibility, Short nose, Conve...	ORPHA:1695
Ulbright-Hodes Syndrome	Short humerus, Short metacarpal, Depressed nasal bridge, Micrognathia, Humeroradial synostosis, H...	ORPHA:3404
Paget Disease Of Bone 2, Early-Onset	Bowing of the long bones, Short femur, Fractures of the long bones, Femoral bowing, Osteosclerosi...	OMIM:602080
Pfeiffer Syndrome Type 1	Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Depress...	ORPHA:93258
Shox-Related Short Stature	Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm undergrowth, Lo...	ORPHA:314795
Hypocalcemic Vitamin D-Dependent Rickets	Delayed eruption of teeth, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone ...	ORPHA:289157
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing, Lung abscess, B lymphocytopenia, Reduced natural killer ce...	OMIM:241600
Spondylometaphyseal Dysplasia, A4 Type	Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm	ORPHA:168555
Shprintzen-Goldberg Syndrome	Osteopenia, Bowing of the long bones, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, ...	ORPHA:2462
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Radial Ray Hypoplasia With Choanal Atresia	Depressed nasal bridge, Choanal atresia, Short thumb, Hypoplasia of the radius, Small thenar emin...	OMIM:179270
C Syndrome	Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Anteverted nares, Micromeli...	OMIM:211750
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Micrognathia, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion con...	OMIM:271640
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Short tibia, Short pha...	OMIM:268305
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome	Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal metacarpal morphol...	ORPHA:2631
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	11 pairs of ribs, Joint hypermobility, Prominent nasal bridge, Joint stiffness, Long nose, Short ...	OMIM:619184
Weismann-Netter Syndrome	Fibular bowing, Squared iliac bones, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Talipes, Tarsal synostosis, A...	ORPHA:2378
Otospondylomegaepiphyseal Dysplasia	Epiphyseal dysplasia, Short metacarpal, Abnormally ossified vertebrae, Sandal gap, Abnormal pelvi...	ORPHA:1427
Acromesomelic Dysplasia 1	Joint laxity, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the rad...	OMIM:602875
Spondylometaphyseal Dysplasia, Kozlowski Type	Short tubular bones of the hand, Metaphyseal widening, Delayed epiphyseal ossification, Short met...	ORPHA:93314
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Micrognathia, Hypoplasia of first ribs, Foot oligodactyly, Triph...	OMIM:154400
Maxillonasal Dysplasia	Mandibular prognathia, Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1248
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short humerus, Trident pelvis, Bowed humerus, Depressed nasal bridge, Flexion contracture, Wide n...	OMIM:619479
Ring Chromosome 8 Syndrome	Deviation of finger, Short nose, Anteverted nares	ORPHA:1450
Difference Of Sex Development-Intellectual Disability Syndrome	Short thorax, Reduced bone mineral density, Genu valgum, Short nose, Spina bifida occulta	ORPHA:2983
Catel-Manzke Syndrome	Joint laxity, Short humerus, Short metacarpal, Short femur, Single transverse palmar crease, Micr...	OMIM:616145
Spondyloepimetaphyseal Dysplasia, Missouri Type	Radial bowing, Rhizomelia, Ulnar bowing, Flared metaphysis, Coxa vara, Tibial bowing, Femoral bow...	OMIM:602111
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Long palm, Arachnodactyly, Choanal atresia, Missing ribs, Abnormal rib morphology, Wide nasal bri...	ORPHA:2759
Osteogenesis Imperfecta, Type X	Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Tibial bowing...	OMIM:613848
Kniest Dysplasia	Hip contracture, Rhizomelia, Depressed nasal bridge, Dumbbell-shaped long bone, Tracheomalacia, P...	OMIM:156550
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Mandibular prognathia, Scapular winging, Toe syndactyly, Anteverted nares, Camptod...	ORPHA:1327
14Q11.2 Microdeletion Syndrome	Toe syndactyly, Depressed nasal bridge, Micrognathia, Toe clinodactyly, Short nose	ORPHA:261120
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ...	ORPHA:3472
Spondyloepimetaphyseal Dysplasia, Irapa Type	Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Osteoarthrit...	OMIM:271650
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Ulnar deviation of the wrist, Camptodactyly of finger, Dep...	ORPHA:1529
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Pectus excavatum, Triceps aplasia, Patellar aplasia, Hy...	OMIM:161200
Pde4D Haploinsufficiency Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Prominent nose, Short metatarsal,...	ORPHA:439822
Ophthalmomandibulomelic Dysplasia	Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Temporomandibular joint...	OMIM:164900
Metaphyseal Acroscyphodysplasia	Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga...	ORPHA:1240
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Short metacarpal, Brachydactyly, Sandal gap, Depressed nasal bridge, Postaxial polydactyly, Cario...	OMIM:617102
Jeune Syndrome	Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora...	ORPHA:474
Autosomal Dominant Spondylocostal Dysostosis	Anteverted nares, Missing ribs, Short thorax, Abnormal rib morphology, Wide nasal bridge, Posteri...	ORPHA:1797
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome	Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia	ORPHA:2252
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,...	ORPHA:1190
Acrocapitofemoral Dysplasia	Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Pectus excavatum,...	ORPHA:63446
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Hand polydactyly, Neonatal death	OMIM:314390
Orofaciodigital Syndrome Ix	Short tibia, Toe syndactyly, Hand polydactyly, Camptodactyly	OMIM:258865
Distal Duplication 18Q	Arachnodactyly, Camptodactyly of finger, Anteverted nares, Micrognathia, Carious teeth, Choanal a...	ORPHA:1716
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap...	OMIM:608728
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome	Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph...	ORPHA:2502
Cranioectodermal Dysplasia 2	Joint laxity, Syndactyly, Rhizomelia, Depressed nasal bridge, Craniosynostosis, Micrognathia, Pec...	OMIM:613610
Ruvalcaba Syndrome	Short metacarpal, Micromelia, Underdeveloped nasal alae, Limited elbow extension, Short metatarsa...	OMIM:180870
Ulnar-Mammary Syndrome	Deformed radius, Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Aplasia of the 5th ...	OMIM:181450
Premature Aging Syndrome, Penttinen Type	Aplasia of the nasal bone, Micrognathia, Hypoplasia of the maxilla, Palmoplantar hyperkeratosis, ...	OMIM:601812
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Micrognathia, Depressed nasal ridge, Mandibular aplasia, Short nose, Retrognathia	ORPHA:1832
Spondyloepiphyseal Dysplasia Congenita	Short femur, Micrognathia, Abnormal foot morphology, Upper limb undergrowth, Flat acetabular roof...	ORPHA:94068
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Recurrent fractures, Micromelia, Abnormal rib morphology, Joint hyperflexibility, Decreased calva...	ORPHA:2772
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the nose, Missing ribs, Micrognathia,...	ORPHA:3301
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short palm, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Depre...	ORPHA:163966
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Bilateral talipes ...	OMIM:119800
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow extension, Thoracic hypoplasia	ORPHA:156728
Pierpont Syndrome	Wide nose, Broad nasal tip, Short toe, Broad palm, Short foot, Deep palmar crease, Short finger, ...	OMIM:602342
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	11 pairs of ribs, Hyperextensibility of the finger joints, Prominent nasal bridge, Micrognathia, ...	OMIM:618356
Pycnodysostosis	Obtuse angle of mandible, Abnormal clavicle morphology, Micrognathia, Hypoplasia of the maxilla, ...	ORPHA:763
Temtamy Preaxial Brachydactyly Syndrome	Micrognathia, Hypoplasia of the maxilla, Partial duplication of the proximal phalanx of the 3rd f...	ORPHA:363417
Dysostosis, Stanescu Type	Narrow nasal bridge, Bowing of the long bones, Increased bone mineral density, Abnormal dental en...	ORPHA:1798
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Camptodactyly Syndrome, Guadalajara Type 3	Osteopenia, Broad nasal tip, Small hand, Retrognathia, Abnormal rib morphology, Broad columella, ...	ORPHA:488434
Otopalatodigital Syndrome Type 2	Micrognathia, Preaxial polydactyly, Narrow chest, Short palm, Abnormal vertebral segmentation and...	ORPHA:90652
Chung-Jansen Syndrome	Anteverted nares, Micrognathia, Tapered finger, Hip dysplasia, Clinodactyly of the 5th finger, Sh...	OMIM:617991
Hypophosphatemic Rickets, X-Linked Recessive	Thin bony cortex, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300554
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Osteopenia, Hip dislocation, Wide nasal bridge, Neutropenia, Limb undergrowth, Joint contracture,...	OMIM:618005
Achondroplasia	Short nasal bridge, Rhizomelia, Anteverted nares, Depressed nasal bridge, Bowing of the legs, Sho...	ORPHA:15
Peho-Like Syndrome	Short nose, Retrognathia, Tapered finger	OMIM:617507
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Proximal placement of thumb, Micromelia, Abnormality of the elbo...	ORPHA:3121
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Depres...	OMIM:114290
Orofaciodigital Syndrome X	Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Fibular aplasia	OMIM:165590
Chikungunya	Epistaxis, Joint stiffness, Periostitis, Osteolysis, Synovitis, Enthesitis, Arthritis, Stiff inte...	ORPHA:324625
Noonan Syndrome 12	11 pairs of ribs, Proximal placement of thumb, Pectus excavatum, Lymphopenia, Thrombocytopenia	OMIM:618624
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Osteopenia, Mandibular prognathia, Congenital hip dislocation, Depressed nasal bridge, Joint hype...	OMIM:616007
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Abnormal tibia morphology, Abnormal femur morphology, Clinodactyly of t...	ORPHA:2496
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D...	OMIM:263520
Stuve-Wiedemann Syndrome 1	Micrognathia, Femoral bowing, Knee flexion contracture, Tibial bowing, Short tibia, Short phalanx...	OMIM:601559
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Depressed nasal bridge, Choanal atresia, Missing ribs, Choanal stenosis, Talipe...	OMIM:619859
Slc35A2-Cdg	Camptodactyly of finger, Coxa valga, Metatarsus adductus, Abnormal long bone morphology, Talipes ...	ORPHA:356961
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplas...	OMIM:276820
Brachytelephalangic Chondrodysplasia Punctata	Calcaneal epiphyseal stippling, Thick nasal alae, Broad nasal tip, Hypoplasia of the maxilla, Abn...	ORPHA:79345
Spondyloepimetaphyseal Dysplasia, Shohat Type	Joint laxity, Thoracic hypoplasia, Bowing of the legs, Metaphyseal widening, Delayed epiphyseal o...	ORPHA:93352
Mesomelic Dysplasia, Kantaputra Type	Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ...	ORPHA:1836
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro...	ORPHA:2633
Seckel Syndrome 5	11 pairs of ribs, Prominent nasal bridge, Micrognathia, Short middle phalanx of finger, Clinodact...	OMIM:613823
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Wrist flexion contracture, H...	OMIM:268300
Al-Gazali Syndrome	Proximal radio-ulnar synostosis, Osteopenia, Bowed humerus, Recurrent fractures, Micrognathia, Bi...	OMIM:609465
Teebi Hypertelorism Syndrome 1	Natal tooth, Anteverted nares, Depressed nasal bridge, Sagittal craniosynostosis, Micrognathia, S...	OMIM:145420
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Short metacarpal, Rhizomelia, Metaphyseal widening, Coxa vara, Tibial bowing, Femoral bowing, Nar...	OMIM:608940
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Hip dysplasia, Flexion contracture, Short nose	OMIM:618379
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Wide nose, Depressed nasal bridge, Micromelia, Micrognathia, Preaxial hand polydactyly, Postaxial...	ORPHA:93271
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Congenital hip dislocation, Anteverted nares, Abnorm...	ORPHA:1458
Microphthalmia With Limb Anomalies	Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n...	OMIM:206920
Hypochondroplasia	Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Osteoarthritis, Abnormality of th...	ORPHA:429
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Finger syndactyly, Hypoplasia of the ulna, Toe syndac...	ORPHA:84
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverte...	OMIM:617201
Mandibuloacral Dysplasia With Type B Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Convex nasal ridge, Abnormal fingertip morphology, Micrognat...	ORPHA:90154
Orofaciodigital Syndrome Vi	11 pairs of ribs, Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxi...	OMIM:277170
Rothmund-Thomson Syndrome Type 2	Osteopenia, Aplastic anemia, Long nose, Patellar hypoplasia, Neutropenia, Short phalanx of finger...	ORPHA:221016
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro...	ORPHA:2519
Schwartz-Jampel Syndrome, Type 1	Congenital hip dislocation, Micromelia, Bowing of the legs, Micrognathia, Metaphyseal widening, C...	OMIM:255800
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz...	OMIM:618019
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Limited elbow movement, Micrognathia, Long nose, Thoracolumbar kyphosis, T lymphocytopenia, Narro...	ORPHA:508533
Robinow Syndrome, Autosomal Dominant 2	Brachydactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Partial duplication of thu...	OMIM:616331
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Joint s...	ORPHA:1275
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Joint stiffness, Micrognathia, Hypoplasia of the maxilla, Abnorm...	ORPHA:245
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Reduced bone mineral density, Slender long bone, Joint hyperflexibility, Cubitu...	ORPHA:1185
Kniest Dysplasia	Enlarged epiphyses, Abnormality of the epiphysis of the femoral head, Aplasia/hypoplasia of the e...	ORPHA:485
Occipital Horn Syndrome	Osteopenia, Coxa vara, Humerus varus, Pectus carinatum, Narrow chest, Short palm, Large iliac win...	ORPHA:198
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Underdeveloped nasal alae, Wide...	OMIM:601224
Oculodentodigital Dysplasia	Mandibular prognathia, Abnormal clavicle morphology, Micrognathia, Clinodactyly of the 5th finger...	ORPHA:2710
Sponastrime Dysplasia	Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Metaphyseal widening,...	ORPHA:93357
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Rocker bottom foot, Delayed eruption of permanent teeth, Clinodactyly of the 5t...	OMIM:618506
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Anteverted nares, Single transverse palmar crease, Micrognathia, Bulbous nose, Wide nasal bridge,...	OMIM:613604
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Micrognathia, Short nose, Spina bifida occulta	ORPHA:1514
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2	11 pairs of ribs, Depressed nasal bridge, Rhizomelia, Narrow chest	OMIM:617661
Glutamine Deficiency, Congenital	Anteverted nares, Depressed nasal bridge, Micromelia, Flexion contracture, Wide nasal bridge, Cam...	OMIM:610015
Edinburgh Malformation Syndrome	Anteverted nares, Choanal atresia, Micrognathia, Joint stiffness, Long fingers, Ulnar deviation o...	ORPHA:1895
Chromosome 6Q11-Q14 Deletion Syndrome	Joint laxity, Single transverse palmar crease, Prominent nasal bridge, Broad nasal tip, Micrognat...	OMIM:613544
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares...	OMIM:612394
Geleophysic Dysplasia 1	Short palm, Osteopenia, Anteverted nares, Camptodactyly of finger, Coxa valga, Joint stiffness, P...	OMIM:231050
Cartilage-Hair Hypoplasia	Micromelia, Metaphyseal chondrodysplasia, Depressed nasal ridge, Tibial bowing, Pectus carinatum,...	ORPHA:175
Acromesomelic Dysplasia 4	Mandibular prognathia, Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum,...	OMIM:619636
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Camptodactyly of finger, Micrognathia	ORPHA:1495
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Depressed nasal bridge, Micromelia, Short thorax,...	ORPHA:85166
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Osteopenia, Wide nose, Broad hallux, Prominent nasal bridge, Convex nasal ridge, Micrognathia, Ge...	ORPHA:251028
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Depressed nasal bridge, Postaxial polydactyly, Splenomegaly, Postaxial hand polydactyly, Supernum...	OMIM:617088
Mandibuloacral Dysplasia With Type B Lipodystrophy	Narrow nasal ridge, Micrognathia, Flexion contracture, Hypoplasia of teeth, Progressive clavicula...	OMIM:608612
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Epiphyseal stippling, Short nose, Joint hemorrhage, Short distal phalanx of finger	OMIM:277450
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Delayed eruption of permanent teeth, Short distal phalanx of toe,...	OMIM:619356
Lowry-Maclean Syndrome	Osteopenia, Short nasal bridge, Single transverse palmar crease, Craniosynostosis, Micrognathia, ...	ORPHA:2409
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome	Short metacarpal, Abnormal cartilage matrix, Epiphyseal stippling, Talipes equinovarus, Arthrogry...	ORPHA:86822
Opsismodysplasia	Short metacarpal, Rhizomelia, Anterior rib cupping, Anteverted nares, Depressed nasal bridge, Hyp...	OMIM:258480
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Short femur, Talipes equinovarus	OMIM:620306
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Joint stiffness, Anosmia, Genu valgum, Hypoplasia of the zygomatic bone, Abnormal ...	ORPHA:1295
Spondyloepiphyseal Dysplasia, Kimberley Type	Osteoarthritis, Short thorax, Abnormal epiphysis morphology, Micromelia	ORPHA:93283
14Q24.1Q24.3 Microdeletion Syndrome	Joint laxity, Limited elbow extension and supination, Prominent nasal bridge, Short thumb, Wide n...	ORPHA:401935
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Increased bone mineral density, Arachnodactyly, Recurrent fractures, Joint hyp...	OMIM:614856
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Mandibular prognathia, Barrel-shaped chest, Rhizomelia, Metaphyseal widening, Irreg...	OMIM:612813
Dent Disease 1	Thin bony cortex, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delay...	OMIM:300009
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Mandibular prognathia, Single transverse palmar crease, Broad nasal tip, Flexion contracture, Rec...	ORPHA:391372
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Postaxial polydactyly, Aplastic clavicle, Micromelia, Preaxial polydactyl...	OMIM:616546
Chondrodysplasia-Difference Of Sex Development Syndrome	Short metacarpal, Broad long bones, Micromelia, Increased skull ossification, Abnormal shoulder m...	ORPHA:1422
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Malar flattening, Short nose, Retrognathia, Broad nasal tip	OMIM:613670
Fibrous Dysplasia Of Bone	Abnormal clavicle morphology, Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Pa...	ORPHA:249
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Joint stiffness, ...	ORPHA:2107
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Flexion contracture, Hypoplasia of the thymus, Narrow chest, Genu varum, Long toe, ...	OMIM:264090
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Micrognathia, Limitation of joint mobility, Symphalangism affecting the ...	ORPHA:2547
Focal Dermal Hypoplasia	Congenital hip dislocation, Cleft ala nasi, Osteopathia striata, Short metatarsal, Foot oligodact...	OMIM:305600
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Wide anterior fon...	OMIM:619736
17P13.3 Microduplication Syndrome	Clinodactyly of the 5th finger, Wide nose, Congenital hip dislocation, Short nose	ORPHA:217385
Ritscher-Schinzel Syndrome 1	Syndactyly, Depressed nasal bridge, Missing ribs, Micrognathia	OMIM:220210
Verheij Syndrome	Joint laxity, Vertebral fusion, Anteverted nares, Broad nasal tip, Hip dislocation, Wide nasal br...	OMIM:615583
Autosomal Recessive Hypophosphatemic Rickets	Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O...	ORPHA:289176
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Broad toe, 11 pairs of ribs, Pectus excavatum, Bulbous nose, Osteoporosis,...	ORPHA:488632
Clark-Baraitser Syndrome	Depressed nasal bridge, Sandal gap, Anteverted nares, Clinodactyly, Short nose, Low hanging colum...	OMIM:617752
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Micrognathia, Abnormal ...	ORPHA:2879
Rothmund-Thomson Syndrome Type 1	Osteopenia, Abnormal trabecular bone morphology, Short metacarpal, Delayed eruption of teeth, Apl...	ORPHA:221008
Osteogenesis Imperfecta, Type Xvii	Joint laxity, Bowed humerus, Recurrent fractures, Dentinogenesis imperfecta, Osteoporosis, Hip di...	OMIM:616507
Braddock Syndrome	Pectus excavatum, Preaxial hand polydactyly, Missing ribs, Micrognathia	ORPHA:52047
Holt-Oram Syndrome	Finger syndactyly, Abnormal clavicle morphology, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Robinow Syndrome, Autosomal Recessive 2	Broad hallux, Sandal gap, Anteverted nares, Micrognathia, Broad nasal tip, Wide nasal bridge, Mes...	OMIM:618529
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Pectus carinatum, Narrow greater sciatic notch, Short palm, Anteverted nar...	OMIM:312870
Marshall Syndrome	Radial bowing, Anteverted nares, Depressed nasal bridge, Coxa valga, Hypoplastic ilia, Micrognath...	OMIM:154780
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Syndactyly, Anteverted nares, Single trans...	OMIM:305400
Radio-Renal Syndrome	Depressed nasal bridge, Micromelia, Micrognathia, Hypoplasia of the radius, Abnormality of the el...	ORPHA:3015
Congenital Insensitivity To Pain With Severe Intellectual Disability	Osteomyelitis, Recurrent fractures, Rocker bottom foot, Micrognathia, Prominent nose, Tibial bowi...	ORPHA:453510
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Joint laxity, Microretrognathia, Scapular winging, Anteverted nares, Monkey wrench femoral neck, ...	OMIM:618870
Microlissencephaly-Micromelia Syndrome	11 pairs of ribs, Micromelia, Adducted thumb, Short nose, Bilateral single transverse palmar creases	ORPHA:50810
3C Syndrome	Finger syndactyly, Depressed nasal bridge, Micrognathia, Missing ribs, Wide nasal bridge, Hand po...	ORPHA:7
Kagami-Ogata Syndrome	Long clavicles, Anteverted nares, Depressed nasal bridge, Micrognathia, Coxa valga, Long fingers,...	OMIM:608149
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Knee flexion contracture, Spina bifida occulta, Wrist flexion contracture,...	OMIM:193700
Spondylocostal Dysostosis 5	Vertebral fusion, Missing ribs, Pectus carinatum, Posterior rib fusion, Supernumerary ribs	OMIM:122600
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema	Hypoplasia of the radius, Nonopposable triphalangeal thumb	OMIM:179250
Laron Syndrome	Limb undergrowth, Short long bone	OMIM:262500
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Multiple joint contractures, Micrognathia, Metaphyseal widening, Pectus carinatum, Ar...	ORPHA:536467
Ulnar-Mammary Syndrome	Abnormal morphology of the radius, Abnormal clavicle morphology, Camptodactyly of finger, Abnorma...	ORPHA:3138
Tarp Syndrome	Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse palm...	OMIM:311900
Distal Deletion 10Q	Scapular winging, Sandal gap, Single transverse palmar crease, Craniosynostosis, Tapered finger, ...	ORPHA:96148
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Gm1-Gangliosidosis, Type Ii	Joint stiffness, Coxa valga, Thoracolumbar kyphosis, Splenomegaly, Hypoplastic vertebral bodies, ...	OMIM:230600
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Fibular aplasia	OMIM:112310
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Micrognathia, Pectus carinatum, Joint contracture, Short nose	OMIM:615419
Arthrogryposis Multiplex Congenita 5	11 pairs of ribs, Normocytic anemia, Anteverted nares, Rocker bottom foot, Micrognathia, Acanthoc...	OMIM:618947
Hypertrichosis Cubiti	Rhizomelia, Prominent nasal bridge, Micromelia, Abnormality of the elbow, Joint hyperflexibility	ORPHA:2220
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Anemia, Micrognathia	ORPHA:2598
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Thoracic scoliosis, Micrognathia, Generalized joint laxity, Thoracic kypho...	ORPHA:508498
Trigonocephaly 1	Short nose, Wide nasal bridge, Craniosynostosis	OMIM:190440
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Osteoarthritis, Joint hyperflexibility, Abnormal epiphysis morphology,...	ORPHA:90653
Fanconi Anemia, Complementation Group O	Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Small thenar em...	OMIM:613390
Pfeiffer Syndrome Type 2	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93259
Rhiny	Short nose, Anteverted nares	OMIM:180360
Desmosterolosis	Increased bone mineral density, Depressed nasal bridge, Micromelia, Micrognathia, Metatarsus addu...	ORPHA:35107
Campomelia, Cumming Type	Abnormally ossified vertebrae, Bowing of the long bones, Micromelia, Abnormal thorax morphology, ...	ORPHA:1318
Pontocerebellar Hypoplasia, Type 2E	Wide nose, Micrognathia, Flexion contracture, Osteoporosis, Short nose	OMIM:615851
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Anteverted nares, Carious teeth, Pectus excavatum, Abnormality of the elbow, Short nose, Brachyda...	ORPHA:2701
Desmosterolosis	Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Micrognathia, Generalized osteosclerosis,...	OMIM:602398
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Tapered finger, Broad nasal tip, Short toe, Wide nasal bridge, Delayed oss...	OMIM:239300
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Joint laxity, Wide nose, Anteverted nares, Down-sloping shoulders, Deviation of the 5th toe, Micr...	ORPHA:391408
Ohdo Syndrome	Joint laxity, Anteverted nares, Depressed nasal bridge, Micrognathia, Wide nasal bridge, Hypoplas...	OMIM:249620
Miller-Dieker Syndrome	Clinodactyly of the 5th finger, Short nose, Anteverted nares	ORPHA:531
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th...	ORPHA:1234
Cree Mental Retardation Syndrome	Aplasia/Hypoplasia of the ribs, Rocker bottom foot, Micrognathia, Pectus excavatum, Cutaneous fin...	OMIM:606851
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Osteopenia, Micrognathia, Dental malocclusion, Contractures of the large joints, Short nose	ORPHA:329178
Thoraco-Abdominal Enteric Duplication	Camptodactyly of finger, Missing ribs	ORPHA:1759
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Short nose, Polydactyly, Hypoplastic ischia	OMIM:616910
Robinow Syndrome	Fused thoracic vertebrae, Syndactyly, Brachydactyly, Anteverted nares, Depressed nasal bridge, Bi...	ORPHA:97360
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Single trans...	ORPHA:536471
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Flexion contracture, Femoral bowing, Choanal stenosis, Narrow chest, Abnormality of the wrist, El...	ORPHA:95699
Ivic Syndrome	Aplastic clavicle, Joint stiffness, Preaxial hand polydactyly, Short thumb, Hypoplasia of the rad...	ORPHA:2307
Oculocerebrocutaneous Syndrome	Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ...	ORPHA:1647
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Br...	OMIM:300106
Holzgreve Syndrome	Abnormally ossified vertebrae, Abnormal morphology of ulna, Joint stiffness, Abnormal rib morphol...	ORPHA:2167
Beta-Mercaptolactate Cysteine Disulfiduria	Sandal gap, Arachnodactyly, Micromelia, Anteverted nares, Genu valgum, Joint hyperflexibility, Co...	ORPHA:1035
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Osteopenia, Depressed nasal bridge, Long nose, Pectus excavatum, Slender long bone, Malar flatten...	OMIM:618590
Perlman Syndrome	Anteverted nares, Micrognathia, Wide nasal bridge, Short nose, Retrognathia, Bilateral single tra...	ORPHA:2849
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Narrow nose, Underdeveloped nasal alae, Carious teeth, 4-5...	OMIM:164200
Acrofacial Dysostosis, Catania Type	Microretrognathia, Finger syndactyly, Bilateral single transverse palmar creases, Carious teeth, ...	ORPHA:1786
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Anemia, Micromelia, Hepatosplenomegaly	OMIM:273680
Orofaciodigital Syndrome Type 2	Finger syndactyly, Broad hallux, Micrognathia, Short tibia, Adactyly, Broad first metatarsal, Pos...	ORPHA:2751
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares	ORPHA:46
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Multiple rib fractures, Femur fracture, Splenomegaly, Osteop...	OMIM:612301
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Hypoplasia of the maxilla, Long fingers, Flexion contracture, 2-3 toe syndactyly,...	OMIM:218000
Spondyloepimetaphyseal Dysplasia, Krakow Type	Rhizomelia, Elbow contracture, Ulnar deviation of the wrist, Allergic rhinitis, Pectus excavatum,...	OMIM:618162
Smith-Kingsmore Syndrome	Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Wide anterior fontanel, Thr...	OMIM:616638
Caudal Regression Syndrome	Joint stiffness, Missing ribs, Abnormal iliac wing morphology, Aplasia/Hypoplasia of the sacrum, ...	ORPHA:3027
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Thick nasal alae, Micrognathia, Supernumerary ribs, Short nose, Retrognathia	ORPHA:163961
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Short humerus, Short femur, Polydactyly, Flexion contracture	ORPHA:17
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Joint laxity, Mandibular prognathia, Barrel-shaped chest, Rhizomelia, Absent nasal bridge, Mesome...	ORPHA:171866
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Anteverted nares, Single transverse palmar crease, Depressed nasal bridge, 2-3 toe syndactyly, Cl...	OMIM:613443
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, Bulbous nose, 2-3 toe syndactyly, Clinodactyly of the 4th finger, ...	ORPHA:485405
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi...	OMIM:601356
Spondylocarpotarsal Synostosis Syndrome	Coxa vara, Pectus carinatum, Clinodactyly of the 5th finger, Vertebral fusion, Short metacarpal, ...	OMIM:272460
Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome	Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasia/Hypoplasia of the mandible, ...	ORPHA:85165
Wiedemann-Steiner Syndrome	Aplasia/Hypoplasia of the ribs, Hyperextensibility at elbow, Rhizomelia, Abnormality of the hand,...	ORPHA:319182
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Broad hallux, Broad nasal tip, Wide nasal bridge, Shortening of all distal phalanges of the finge...	OMIM:614749
Cardioacrofacial Dysplasia 1	Postaxial polydactyly, Hypoplasia of the maxilla, Genu valgum, Long thorax, Limb undergrowth, Ove...	OMIM:619142
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Tapered finger, Flexion contracture, Hyperextensibility at wrists, Hip dyspl...	ORPHA:544503
Wiedemann-Rautenstrauch Syndrome	Long toe, Short humerus, Osteopenia, Short femur, Natal tooth, Camptodactyly of finger, Wide nasa...	ORPHA:3455
Harel-Yoon Syndrome	Mandibular prognathia, Micrognathia, Pectus carinatum, Hip dysplasia, Short nose	OMIM:617183
Osteogenesis Imperfecta, Type Vii	Osteopenia, Multiple rib fractures, Crumpled long bones, Rhizomelia, Protrusio acetabuli, Femoral...	OMIM:610682
Rothmund-Thomson Syndrome, Type 2	Mandibular prognathia, Delayed eruption of teeth, Congenital hip dislocation, Depressed nasal bri...	OMIM:268400
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb morphology, Short thorax, Small hand,...	ORPHA:1597
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging, Sandal gap, Single transverse palmar crease, Depressed nasal bridge, Tapered fi...	OMIM:617061
Al-Raqad Syndrome	Joint laxity, Short nose, Sandal gap, Brachydactyly	OMIM:616459
Cardioacrofacial Dysplasia 2	Mandibular prognathia, Postaxial hand polydactyly, Clubbing, Genu valgum, Postaxial foot polydact...	OMIM:619143
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Brachydactyly, Prominent nasal bridge, Camptodactyly of finger, Micrognathia, Underdeveloped nasa...	ORPHA:2083
Nievergelt Syndrome	Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal...	OMIM:163400
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Osteopenia, Joint laxity, Micrognathia, Wide anterior fontanel, Short toe, Recurrent mandibular s...	OMIM:225410
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Abnormality of the hand, Bulbous nose,...	ORPHA:369891
Severe X-Linked Intellectual Disability, Gustavson Type	Congenital hip dislocation, Rocker bottom foot, Micrognathia, Calcaneovalgus deformity, Recurrent...	ORPHA:3078
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Microretrognathia, Postaxial hand polydactyly, Short nose	ORPHA:1389
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip	OMIM:615716
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Joint stiffness, Abnormal sacroiliac joint morphology, Short ...	ORPHA:2655
Image Syndrome	Metaphyseal dysplasia, Depressed nasal bridge, Micromelia	ORPHA:85173
Non-Distal Duplication 13Q	Arachnodactyly, Micrognathia, Postaxial hand polydactyly, Narrow chest, Short nose	ORPHA:1702
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Anteverted nares, Single transverse palmar crease, 2-3 toe syndactyly, Coxa vara, Wid...	OMIM:614701
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Pectus excavatum, Long fingers,...	OMIM:614753
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Joint laxity, Arachnodactyly, Bilateral talipes equinovarus, Talipes equinovarus, Camptodactyly, ...	OMIM:615539
Baker-Gordon Syndrome	Joint laxity, Prominent nasal tip, Short nose	OMIM:618218
Congenital Disorder Of Glycosylation, Type Iu	Congenital contracture, Short nose, Micrognathia	OMIM:615042
Meckel Syndrome, Type 8	Depressed nasal ridge, Polydactyly, Talipes equinovarus, Narrow chest, Short nose	OMIM:613885
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Bowing of the long bones, Radial bowing, Micrognathia, Abnormality of the lower limb, Abnormal fi...	ORPHA:3035
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Anteverted nares, Overlapping toe, Flexion contracture, Wide nasal bridge, P...	OMIM:619383
Mosaic Variegated Aneuploidy Syndrome 2	Rhizomelia, Single transverse palmar crease, Craniosynostosis, Micrognathia, Depressed nasal brid...	OMIM:614114
Nablus Mask-Like Facial Syndrome	Sandal gap, Single transverse palmar crease, Short hallux, Tapered finger, Craniosynostosis, Hypo...	OMIM:608156
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement ...	ORPHA:261211
Gomez-Lopez-Hernandez Syndrome	Anteverted nares, Craniosynostosis, Wide anterior fontanel, Malar flattening, Short nose	OMIM:601853
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Abnormal pelvic girdle bone morph...	ORPHA:2928
Spondylocostal Dysostosis 4, Autosomal Recessive	Vertebral fusion, Block vertebrae, Missing ribs, Pectus excavatum, Short thorax, Rib fusion, Bell...	OMIM:613686
Diamond-Blackfan Anemia 1	Micrognathia, Depressed nasal ridge, Reticulocytopenia, Hypoplastic coccygeal vertebrae, Narrow c...	OMIM:105650
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Prominent nasal bridge, Tapered finger, Bulbous nose, Flexion contracture, Interphalangeal thumb ...	OMIM:613870
Becker Nevus Syndrome	Micromelia, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Upper limb asymmetry, Pectus...	ORPHA:64755
20Q11.2 Microduplication Syndrome	Anteverted nares, Depressed nasal bridge, Pectus excavatum, Wide nasal bridge, Pectus carinatum, ...	ORPHA:363659
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi...	ORPHA:3429
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Osteopenia, Calvarial osteosclerosis, Metacarpal periosteal thickening	OMIM:617994
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Overlapping toe, Anteverted nares, Depressed nasal bridge, Prominent nose, Pectus excav...	OMIM:618316
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, ...	OMIM:217980
Floating-Harbor Syndrome	Prominent nose, Short middle phalanx of the 2nd finger, Clinodactyly of the 5th finger, Short 5th...	OMIM:136140
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Block vertebrae, Missing ribs, Rib fusion, Thin ribs, Short ribs	OMIM:271520
Infantile Systemic Hyalinosis	Osteopenia, Camptodactyly of finger, Micromelia, Osteomalacia, Recurrent fractures, Joint stiffne...	ORPHA:2176
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Wide nose, Overlapping toe, Anteverted...	OMIM:213980
Acromelic Frontonasal Dysostosis	Syndactyly, Preaxial polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Polydactyly, Ta...	OMIM:603671
Alkuraya-Kucinskas Syndrome	Overlapping toe, Anteverted nares, Depressed nasal bridge, Micrognathia, Cutaneous syndactyly, Ta...	OMIM:617822
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Short nose, Anteverted nares, Prominent nasal bridge	OMIM:300558
Smith-Magenis Syndrome	Mandibular prognathia, Toe syndactyly, Anteverted nares, Depressed nasal bridge, Delayed eruption...	ORPHA:819
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Depressed nasal bridge, Craniosynos...	OMIM:620005
Hypophosphatemic Rickets, X-Linked Dominant	Shortening of the talar neck, Bowing of the legs, Trapezoidal distal femoral condyles, Femoral bo...	OMIM:307800
Fanconi Anemia, Complementation Group P	Pancytopenia, Micrognathia, Absent thumb, Short thumb, Bulbous nose, Hypoplasia of the radius, An...	OMIM:613951
Eiken Syndrome	Broad femoral neck, Delayed epiphyseal ossification, Flat acetabular roof, Fibular hypoplasia, Fl...	OMIM:600002
Even-Plus Syndrome	Epiphyseal dysplasia, Bifid nasal tip, Depressed nasal ridge, Short nose, Dysplasia of the femora...	OMIM:616854
Marshall-Smith Syndrome	Thoracic scoliosis, Large sternal ossification centers, Distal widening of metacarpals, Coxa vara...	OMIM:602535
Alagille Syndrome 1	Hypoplasia of the ulna, Depressed nasal bridge, Long nose, Bulbous nose, Abnormal rib morphology,...	OMIM:118450
Congenital Myopathy 22B, Severe Fetal	Hip contracture, Scapular winging, Thoracic scoliosis, Tapered toe, Shoulder flexion contracture,...	OMIM:620369
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Narrow...	OMIM:223800
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Long hallux, Tapered finger	OMIM:619854
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Depressed nasal bridge	ORPHA:438178
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Broad na...	ORPHA:354
Meckel Syndrome, Type 9	Limb undergrowth, Talipes equinovarus	OMIM:614209
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Sandal gap, Micrognathia, Prominent nose, Clavicular pseudarthrosis, Bulbo...	OMIM:156200
Camptomelic Syndrome, Long-Limb Type	Bowing of the long bones, Micromelia	OMIM:211990
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Ventriculomegaly With Defects Of The Radius And Kidney	Absent radius, Bowed forearm bones, Forearm undergrowth, Absent thumb	OMIM:602200
Czech Dysplasia	Narrow femoral neck, Short metacarpal, Flat capital femoral epiphysis, Short toe, Short metatarsa...	OMIM:609162
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hypoplasia of the maxilla, Clinodactyly, Short distal phalanx of finger, Short nose, B...	OMIM:614261
Trisomy 20P	Finger syndactyly, Anteverted nares, Camptodactyly of finger, Micrognathia, Preaxial hand polydac...	ORPHA:261318
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Genu valgum	OMIM:617798
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Short nose	ORPHA:2429
Trisomy 12P	Micrognathia, Wide nasal bridge, Large hands, Clinodactyly of the 5th finger, Malar flattening, S...	ORPHA:1699
Saethre-Chotzen Syndrome	Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di...	OMIM:101400
Pfeiffer Syndrome Type 3	Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Depressed nasal bridge, Choanal atresia,...	ORPHA:93260
Tetrasomy 5P	Overlapping toe, Anteverted nares, Short hallux, Micrognathia, Pectus excavatum, Long fingers, Wi...	ORPHA:3309
Jacobsen Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Missing ribs, Pectus excavatum, Flexion c...	OMIM:147791
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Coxa valga, Micrognathia, Hammertoe, Distal arthrogryposis, Hip dysplasia...	OMIM:619833
Cornelia De Lange Syndrome 1	Delayed eruption of teeth, Depressed nasal bridge, Single transverse palmar crease, Proximal plac...	OMIM:122470
Axial Mesodermal Dysplasia Spectrum	Missing ribs, Micrognathia, Abnormality of the spleen, Abnormal rib morphology, Abnormal pelvic g...	ORPHA:1834
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Micromelia, Limitation of joint mobility, Short thorax, Joint hyperflexib...	ORPHA:93274
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Osteopenia, Micromelia, Micrognathia, Prominent nose, Long nose, Abnormal finger morphology, Shor...	ORPHA:2636
Lathosterolosis	Toe syndactyly, Anteverted nares, Increased mean platelet volume, Micrognathia, Acanthocytosis, P...	OMIM:607330
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the hand, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Mic...	ORPHA:476126
Macrocephaly-Intellectual Disability-Autism Syndrome	Preaxial hand polydactyly, Short nose, Depressed nasal bridge, Foot polydactyly	ORPHA:210548
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Short humerus, Short femur, Tapered finger	OMIM:618367
5Q14.3 Microdeletion Syndrome	Short nose, Toe syndactyly, Anteverted nares	ORPHA:228384
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Vertebral fusion, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, M...	OMIM:227330
Kinsship Syndrome	Osteopenia, Mandibular prognathia, Single transverse palmar crease, Coxa valga, Micrognathia, Bul...	OMIM:619297
Dyssegmental Dysplasia, Silverman-Handmaker Type	Bowing of the long bones, Micromelia, Micrognathia, Wide nasal bridge, Short long bone, Talipes e...	OMIM:224410
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Micrognathia, Tapered finger, Wide nasal bridge, Hypoplasia of teeth, Thoracic kyphosis, Short no...	OMIM:620250
Stüve-Wiedemann Syndrome	Osteopenia, Bowing of the long bones, Camptodactyly of finger, Micromelia, Recurrent fractures, T...	ORPHA:3206
Marshall Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Osteoarthritis...	ORPHA:560
Cardiofaciocutaneous Syndrome 1	Osteopenia, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Mi...	OMIM:115150
Pallister-Hall Syndrome	Syndactyly, Natal tooth, Mesoaxial foot polydactyly, Toe syndactyly, Mesoaxial hand polydactyly, ...	OMIM:146510
Osteogenesis Imperfecta	Osteopenia, Abnormality of dental color, Convex nasal ridge, Micromelia, Micrognathia, Abnormal t...	ORPHA:666
Fanconi Anemia, Complementation Group I	Absent thumb, Short thumb, Hypoplasia of the radius, Fused cervical vertebrae, Neutropenia, Short...	OMIM:609053
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, L...	OMIM:615866
Leukodystrophy, Hypomyelinating, 10	Anteverted nares, Arachnodactyly, Bulbous nose, Malar flattening, Short nose	OMIM:616420
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Micrognathia, Prominent nose, Ach...	ORPHA:363528
Peho Syndrome	Short nose, Retrognathia, Tapered finger	OMIM:260565
Poikiloderma With Neutropenia	Joint laxity, Depressed nasal bridge, Micrognathia, Carious teeth, Joint stiffness, Underdevelope...	OMIM:604173
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Syndactyly, Clinodactyly, Short nose	OMIM:618087
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Sandal gap	OMIM:300887
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Bulbous nose, Clinodactyly of the 5th finger, Sho...	OMIM:618828
Thoracic Dysplasia-Hydrocephalus Syndrome	Limb undergrowth, Abnormal metaphysis morphology, Depressed nasal ridge, Narrow chest	ORPHA:1861
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger...	OMIM:260660
Au-Kline Syndrome	Overlapping toe, Wide nasal ridge, Sagittal craniosynostosis, Postaxial polydactyly, Coxa valga, ...	OMIM:616580
Alg9-Cdg	Microretrognathia, Ulnar deviation of the hand, Rhizomelia, Depressed nasal bridge, Micrognathia,...	ORPHA:79328
Congenital Heart Defects And Skeletal Malformations Syndrome	Arachnodactyly, Sandal gap, Narrow nose, Carious teeth, Long nose, Pectus excavatum, Camptodactyl...	OMIM:617602
Camurati-Engelmann Disease	Delayed eruption of teeth, Abnormal morphology of the radius, Metaphyseal dysplasia, Abnormal mor...	ORPHA:1328
Chromosome 19Q13.11 Deletion Syndrome, Distal	Overlapping toe, Anteverted nares, Micrognathia, Carious teeth, Underdeveloped nasal alae, Wide n...	OMIM:613026
Fanconi Anemia, Complementation Group W	Abnormal radial ray morphology, Hypoplasia of the radius, Polysplenia, Absent thumb	OMIM:617784
Micromelic Bone Dysplasia With Cloverleaf Skull	Micromelia	OMIM:156830
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Short nose, Micrognathia	OMIM:614744
Joubert Syndrome 21	Splenomegaly, Single naris, Bell-shaped thorax, Short ribs, Chronic sinusitis	OMIM:615636
Robinow Syndrome, Autosomal Dominant 1	Micrognathia, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Rhiz...	OMIM:180700
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Anteverted nares, Broad hallux, Single transverse palmar crease, Depressed nasal bridge, Bulbous ...	OMIM:614105
Bainbridge-Ropers Syndrome	Ulnar deviation of the hand, Arachnodactyly, Prominent nasal bridge, Anteverted nares, Micrognath...	OMIM:615485
Dent Disease	Enlarged epiphyses, Thin bony cortex, Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowin...	ORPHA:1652
Autosomal Recessive Robinow Syndrome	Micrognathia, Pectus carinatum, Clinodactyly of the 5th finger, Bilateral single transverse palma...	ORPHA:1507
Acrocephalopolydactylous Dysplasia	Craniosynostosis, Micromelia, Postaxial hand polydactyly, Polysplenia, Short nose	OMIM:200995
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Mandibular prognathia, Micrognathia, Pectus carinatum, Hip dysplasia, Short nose	ORPHA:496790
Kaposiform Lymphangiomatosis	Abnormal ischium morphology, Abnormal thoracic spine morphology, Abnormal pelvis bone morphology,...	ORPHA:464329
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Prominent nasal b...	ORPHA:1225
Geleophysic Dysplasia 3	Epiphyseal dysplasia, Anteverted nares, Depressed nasal bridge, Limited elbow movement, Limited w...	OMIM:617809
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Coxa vara, Pectus carinatum, Wrist flexion contracture, Increased bone ...	ORPHA:800
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Micrognathia, Coxa valg...	OMIM:618150
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Anteverted nares, Micrognathia, Absent radius, Preaxial hand pol...	ORPHA:233
Mandibulofacial Dysostosis-Microcephaly Syndrome	Micrognathia, Hypoplasia of the maxilla, Preaxial hand polydactyly, Malar flattening, Short nose	ORPHA:79113
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, B lymphoc...	OMIM:614069
Desbuquois Syndrome	Anteverted nares, Camptodactyly of finger, Depressed nasal bridge, Coxa valga, Elbow dislocation,...	ORPHA:1425
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Clinodactyly of the 5th finger,...	OMIM:618430
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Decreased palmar creases, Craniosynostosis, Tapered finger, Generalized joint ...	ORPHA:2953
Mesomelic Dysplasia, Kantaputra Type	Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia	OMIM:156232
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Delayed eruption of primary teeth, Absent radius, Short thu...	OMIM:149730
Aspartylglucosaminuria	Mandibular prognathia, Abnormal morphology of ulna, Joint stiffness, Carious teeth, Splenomegaly,...	ORPHA:93
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Micromelia, Broad nasal tip, Abnormal epiphysis morphology, Dimple on na...	ORPHA:1784
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Charge Syndrome	Hypoplasia of the ulna, Down-sloping shoulders, Abnormal palmar dermatoglyphics, Micrognathia, Ab...	OMIM:214800
Doors Syndrome	11 pairs of ribs, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Anteverted nares, Sagittal ...	ORPHA:79500
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Sinusitis, Depressed nasal bridge, Anteverted nares, Micrognathia, T lymphocytopenia, Malar flatt...	OMIM:242860
Stickler Syndrome	Arachnodactyly, Protrusio acetabuli, Abnormal dental enamel morphology, Micrognathia, Hypoplasia ...	ORPHA:828
Aymé-Gripp Syndrome	Depressed nasal bridge, Rocker bottom foot, Craniosynostosis, Tapered finger, Abnormal thorax mor...	ORPHA:1272
Dpm1-Cdg	Sandal gap, Depressed nasal bridge, Micrognathia, Knee flexion contracture, Hepatosplenomegaly, C...	ORPHA:79322
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Arachnodactyly, Micrognathia	ORPHA:1129
Rhombencephalosynapsis	Microretrognathia, Finger syndactyly, Anteverted nares, Polydactyly, Complete duplication of thum...	ORPHA:59315
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Missing ribs, Small hand, Rib fusion, Hip dysplasi...	ORPHA:50
Tarp Syndrome	Finger syndactyly, Extramedullary hematopoiesis, Anteverted nares, Rocker bottom foot, Postaxial ...	ORPHA:2886
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Broad hallux, Micrognathia, Postaxial hand polydactyly, Supernume...	OMIM:615948
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Ankle flexion contracture, Micrognathia, Short nose	OMIM:617802
Toluene Embryopathy	Hypoplasia of the zygomatic bone, Short nose, Micrognathia, Tapered finger	ORPHA:1920
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Micrognathia, Tapered ...	ORPHA:251071
Fetal Trimethadione Syndrome	Depressed nasal bridge, Bilateral single transverse palmar creases, Short nose, Micrognathia	ORPHA:1913
Tetrasomy 18P	Large hands, Short nose	ORPHA:3307
Mesomelia-Synostoses Syndrome	Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat...	OMIM:600383
Baraitser-Winter Syndrome 1	Anteverted nares, Duplication of phalanx of hallux, Wide nasal bridge, Short nose, Retrognathia	OMIM:243310
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Micrognathia, Preaxial hand polyd...	OMIM:610536
Weiss-Kruszka Syndrome	Anteverted nares, Single transverse palmar crease, Proximal placement of thumb, Clinodactyly of t...	OMIM:618619
Jaberi-Elahi Syndrome	Depressed nasal bridge, Joint stiffness, Pectus carinatum, Talipes equinovarus, Hand clenching, S...	OMIM:617988
Robinow Syndrome, Autosomal Dominant 3	Syndactyly, Anteverted nares, Depressed nasal bridge, Micrognathia, Dental malocclusion, Wide nas...	OMIM:616894
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Pes planus, Short femur, Talipes, Micrognathia, Talipes equinovarus, Broad distal phalanx of fing...	OMIM:300990
Intellectual Developmental Disorder, X-Linked 21	Mandibular prognathia, Short nose, Joint hypermobility	OMIM:300143
Fetal Hydantoin Syndrome	Short nose, Depressed nasal ridge, Triphalangeal thumb, Short distal phalanx of finger	ORPHA:1912
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Pectus excavatum, Hypoplasia of the zygomatic bone, Malar flattening, Sho...	ORPHA:2835
Bartsocas-Papas Syndrome 1	Syndactyly, Short metacarpal, Hypoplastic scapulae, Absent thumb, Absent radius, Short thumb, Uln...	OMIM:263650
Neu-Laxova Syndrome	Osteopenia, Osteomalacia, Micromelia, Micrognathia, Trismus, Flexion contracture, Osteoporosis, R...	ORPHA:2671
Jacobsen Syndrome	Broad hallux phalanx, Finger syndactyly, Toe syndactyly, Anteverted nares, Missing ribs, Short to...	ORPHA:2308
Melanocytic Nevus Syndrome, Congenital	Prominence of the premaxilla, Anteverted nares, Narrow nasal ridge, Broad nasal tip, Short nose	OMIM:137550
Arterial Tortuosity Syndrome	Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necrosis of the capit...	ORPHA:3342
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Tibial bowing, Choanal stenosis, Broad ribs, Myeloid ...	ORPHA:798
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Micromelia, Prominent nose, Underdeveloped nasal alae, Wide nasal bridge, Coxa vara, Narrow pelvi...	ORPHA:2637
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Anteverted nares, Depressed nasal bridge, Flexion contracture, Wide nasal brid...	OMIM:619124
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Sandal gap, Abnormal dental enamel morphology, Depressed nasal bridge, Pectus excavatum, Abnormal...	ORPHA:1812
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Overlapping toe, Pectus excavatum, Bulbous nose, Wide nasal bridge, Short nose	OMIM:618571
Meier-Gorlin Syndrome 6	Microretrognathia, Sandal gap, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal ala...	OMIM:616835
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge	ORPHA:1906
Spondyloenchondrodysplasia	Delayed eruption of teeth, Metaphyseal dysplasia, Pancytopenia, Autoimmune hemolytic anemia, Bowi...	ORPHA:1855
Slc39A8-Cdg	Osteopenia, Craniosynostosis, Elbow flexion contracture, Knee flexion contracture, Cutaneous synd...	ORPHA:468699
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Hypoplasia of the radius, Aplasia of the 1st metacarpal, Absent scap...	OMIM:617247
Peho Syndrome	Anteverted nares, Tapered finger, Flexion contracture, Limitation of joint mobility, Arthrogrypos...	ORPHA:2836
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Prominent nasal bridge, Underdeveloped nasal alae, Aplasia of the distal phalanx of the 5th toe, ...	ORPHA:364577
Cerebrooculonasal Syndrome	Anteverted nares, Prominent nasal bridge, Craniosynostosis, Postaxial polydactyly, Proboscis, Pos...	OMIM:605627
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Pectus carinatum, Short ...	OMIM:616430
Endocrine-Cerebroosteodysplasia	Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Na...	OMIM:612651
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Overlapping toe, Depressed nasal bridge, Craniosynostosis, Tapered finger, Micrognathia, Broad na...	OMIM:309590
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Anteverted nares, Proximal placement of thumb, Mis...	OMIM:304050
Hypomandibular Faciocranial Dysostosis	Anteverted nares, Craniosynostosis, Choanal stenosis, Short nose, Maxillozygomatic hypoplasia	ORPHA:1790
Diamond-Blackfan Anemia 8	Macrocytic anemia, Wide nasal bridge, Increased mean corpuscular volume, Neutropenia, Short nose	OMIM:612563
Leopard Syndrome 1	Mandibular prognathia, Scapular winging, Limited elbow movement, Missing ribs, Pectus excavatum, ...	OMIM:151100
Warburg Micro Syndrome 3	Clinodactyly of the 5th finger, Short nose, Flexion contracture, Micrognathia	OMIM:614222
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Micrognathia, Tracheobronchomalacia, Anteverted nares, Depressed nas...	OMIM:613458
19P13.13 Microdeletion Syndrome	Sandal gap, Anteverted nares, Depressed nasal bridge, Pectus excavatum, Long fingers, Malar flatt...	ORPHA:357001
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Talipes equinovarus, Advanced eruption of teeth, Short nose, Broad columella	OMIM:617865
Down Syndrome	Joint laxity, Brachydactyly, Sandal gap, Depressed nasal bridge, Depressed nasal ridge, Clinodact...	ORPHA:870
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Micromelia, Micrognath...	ORPHA:1908
Cutis Laxa, Autosomal Recessive, Type Iia	Congenital hip dislocation, Anteverted nares, Carious teeth, Wide anterior fontanel, Malar flatte...	OMIM:219200
Autosomal Dominant Robinow Syndrome	Micromelia, Micrognathia, Coxa vara, Pectus carinatum, Short palm, Clinodactyly of the 5th finger...	ORPHA:3107
Gaucher Disease, Perinatal Lethal	Anteverted nares, Depressed nasal bridge, Micrognathia, Thrombocytopenia, Splenomegaly, Hepatospl...	OMIM:608013
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Anteverted nares, Depressed nasal bridge, Micrognathia, Polydactyly, Short nose	ORPHA:314655
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Anteverted nares, Depressed nasal bridge, Coxa valga, Tapered finger, Abse...	OMIM:301040
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Pectus excavatum of inferior sternum, Depressed nasal bridge, Rocker bottom foot, Tapered finger,...	OMIM:601353
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Thrombocytopenia, Splenomegaly, Concave nasal ridge, Short ...	OMIM:170100
Plaa-Associated Neurodevelopmental Disorder	Hyperextensibility of the finger joints, Rocker bottom foot, Single transverse palmar crease, Mic...	ORPHA:521426
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Short sternum, Malar flattening,...	OMIM:222448
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Floating-Harbor Syndrome	11 pairs of ribs, Narrow nasal bridge, Short metacarpal, Brachydactyly, Persistence of primary te...	ORPHA:2044
Tetrasomy 12P	Delayed eruption of teeth, Joint hyperflexibility, Short nose, Anteverted nares	ORPHA:884
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Anteverted nares, Down-sloping shoulders, Prominent nasal bridge, Micrognathia...	ORPHA:1974
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Underdeveloped nasolabial fold, Overlapping toe, Anteverted nares, Micrognat...	ORPHA:177907
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Flexion contracture, Single transverse palmar crease	ORPHA:79243
Dyschondrosteosis-Nephritis Syndrome	Radial bowing, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of the radius	ORPHA:1765
Coffin-Lowry Syndrome	Mandibular prognathia, Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, ...	OMIM:303600
8Q24.3 Microdeletion Syndrome	Microretrognathia, Pes planus, Long toe, Congenital hip dislocation, Short femur, Rocker bottom f...	ORPHA:508488
Carey-Fineman-Ziter Syndrome	Anteverted nares, Micrognathia, Aplasia of the pectoralis major muscle, Ulnar deviation of finger...	ORPHA:1358
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Mandibular prognathia, Microretrognathia, Tapered finger, Wide nasal bridge, Short columella, Hyp...	OMIM:613603
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Postaxial polydactyly, Micrognathia, Single transverse palmar crease, Long fi...	OMIM:617527
Desbuquois Dysplasia 2	Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phal...	OMIM:615777
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Mal...	OMIM:122880
Miller-Dieker Lissencephaly Syndrome	Delayed eruption of teeth, Anteverted nares, Single transverse palmar crease, Micrognathia, Wide ...	OMIM:247200
Intellectual Developmental Disorder, X-Linked 98	Mandibular prognathia, Anteverted nares, Single transverse palmar crease, Depressed nasal bridge,...	OMIM:300912
Cebalid Syndrome	Anteverted nares, Short nose, Depressed nasal ridge, Depressed nasal bridge	OMIM:618774
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Hip dislocation, Short nose, Hepatosplenomegaly	OMIM:608776
Absent Eyebrows And Eyelashes With Mental Retardation	Short nose, Convex nasal ridge	OMIM:200130
Zttk Syndrome	Depressed nasal bridge, Craniosynostosis, Hypoplasia of the maxilla, Flexion contracture, Small h...	OMIM:617140
Fg Syndrome 5	Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Tapered finger, Pectus excavatum, Pectus carinatum, Joint hyperflexibilit...	ORPHA:65286
Lathosterolosis	Abnormal thoracic spine morphology, Toe syndactyly, Anteverted nares, Micrognathia, Postaxial han...	ORPHA:46059
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Multiple joint contractures, Cl...	ORPHA:264450
Distal Deletion 9P	Enlarged thorax, Short nose, Wide nasal bridge, Brachydactyly	ORPHA:1642
Nivelon-Nivelon-Mabille Syndrome	Short metacarpal, Distal clavicular thinning, Micromelia, Bell-shaped thorax, Narrow chest, Short...	OMIM:600092
Developmental Delay With Or Without Dysmorphic Facies And Autism	Anteverted nares, Depressed nasal bridge, Prominent nasal bridge, Micrognathia, Narrow nose, 2-3 ...	OMIM:618454
Fetal Alcohol Syndrome	Anteverted nares, Micrognathia, Short nose, Joint stiffness	ORPHA:1915
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Flexion contracture, Short nose, Clinodactyly of the 4th...	OMIM:614225
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Wide nasal bridge, Short nose	OMIM:620292
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Camptodactyly of finger, Anteverted nares, Pectus excavatum, Talipes equi...	ORPHA:261236
Ayme-Gripp Syndrome	Mandibular prognathia, Depressed nasal bridge, Tapered finger, Pectus excavatum, Wide nasal bridg...	OMIM:601088
Apert Syndrome	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Delaye...	ORPHA:87
6Q Terminal Deletion Syndrome	Hallux valgus, Aplasia/Hypoplasia of the ribs, Joint laxity, Micrognathia, Clinodactyly	ORPHA:75857
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Tetrasomy 9P	Aplasia/Hypoplasia of the clavicles, Hypoplastic scapulae, Bilateral single transverse palmar cre...	ORPHA:3310
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Multiple palmar creases, Wide nasal bridge, Short nose	OMIM:611936
Donnai-Barrow Syndrome	Wide anterior fontanel, Short nose, Depressed nasal bridge	ORPHA:2143
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Finger syndactyly, Vertebral fusion, Toe syndactyly, Short 2nd finger, Cam...	ORPHA:373
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Thrombocytopenia, Hypoplasia of the radius, 2-3 finger syndactyly, Leu...	OMIM:603467
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Rhizomelia, Depressed nasal bridge, Wide anterior fontanel, Palmoplantar cutis lax...	OMIM:616482
Mosaic Trisomy 16	Syndactyly, Single transverse palmar crease, Abnormality of the nose, Short thumb, Abnormal thora...	ORPHA:1708
Trisomy 10P	Thumb contracture, Anteverted nares, Depressed nasal bridge, Abnormality of the hand, Micrognathi...	ORPHA:171929
Monosomy 9P	Anteverted nares, Depressed nasal bridge, Proximal placement of thumb, Micrognathia, Abnormality ...	ORPHA:261112
Kaufman Oculocerebrofacial Syndrome	Congenital hip dislocation, Long palm, Single transverse palmar crease, Anteverted nares, Microgn...	OMIM:244450
Geleophysic Dysplasia 2	Joint stiffness, Limitation of joint mobility, Short foot, Cone-shaped epiphysis, Short palm, Sho...	OMIM:614185
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Depressed nasal bridge, Anteverted nares, Micrognathia, Under...	OMIM:619005
Pterygium Colli, Isolated	Short nose	OMIM:177990
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Abnormal carpal morphology, Madelung deformity, Hip dysplasia, Limb undergrowth, ...	ORPHA:319675
Orofaciodigital Syndrome Type 4	Finger syndactyly, Wide nose, Camptodactyly of finger, Micromelia, Micrognathia, Choanal atresia,...	ORPHA:2753
Ctcf-Related Neurodevelopmental Disorder	Osteopenia, Broad hallux phalanx, Sandal gap, Single transverse palmar crease, Craniosynostosis, ...	ORPHA:363611
Monosomy 9Q22.3	Delayed eruption of teeth, Palmar pits, Pectus excavatum, Abnormal rib morphology, Joint hyperfle...	ORPHA:77301
Pontocerebellar Hypoplasia, Type 10	Tapered finger, Underdeveloped nasal alae, Bulbous nose, Wide nasal bridge, Short nose, Low hangi...	OMIM:615803
Trisomy 18	Microretrognathia, Camptodactyly of finger, Choanal atresia, Postaxial hand polydactyly, Abnormal...	ORPHA:3380
Cardiofaciocutaneous Syndrome	Anteverted nares, Abnormal morphology of ulna, Depressed nasal bridge, Pectus excavatum, Genu val...	ORPHA:1340
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Clinodactyly of the 5th finger, Short nose, Anteverted nares, Underdeveloped nasal alae	ORPHA:2031
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Syndactyly, Sandal gap, Broad hallux, Micromelia, Single transverse palmar crease, Hyposegmentati...	OMIM:614800
Micro Syndrome	Anteverted nares, Micrognathia, Joint stiffness, Wide nasal bridge, Short nose	ORPHA:2510
Dermotrichic Syndrome	Short nose, Depressed nasal bridge, Anemia	ORPHA:99688
Noonan Syndrome 3	Juvenile myelomonocytic leukemia, Hypoplastic nasal bridge, Anteverted nares, Sagittal craniosyno...	OMIM:609942
Degcags Syndrome	Osteopenia, Micrognathia, Prominent nose, Leukopenia, Iron deficiency anemia, Syndactyly, Antever...	OMIM:619488
Chromosome 14Q11-Q22 Deletion Syndrome	Depressed nasal bridge, Micrognathia, Wide nasal bridge, Mesomelia, Short nose, Hip subluxation	OMIM:613457
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Aplasia/Hypoplasia of the tibia, Talipes equinovarus, Patellar hypoplasia	ORPHA:1827
Nicolaides-Baraitser Syndrome	Long toe, Hallux valgus, Short metacarpal, Narrow nasal bridge, Sandal gap, Single transverse pal...	OMIM:601358
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Anteverted nares, Depressed nasal bridge, Micrognathia, Short sternum, Leukemia, Malar...	OMIM:257300
Congenital Disorder Of Glycosylation, Type Iie	Wide nose, Micrognathia, Splenomegaly, Overlapping fingers, Short nose, Retrognathia, Adducted thumb	OMIM:608779
Kleefstra Syndrome	Mandibular prognathia, Delayed eruption of teeth, Anteverted nares, Limitation of joint mobility,...	ORPHA:261494
Acrocallosal Syndrome	Mandibular prognathia, Finger syndactyly, Microretrognathia, Toe syndactyly, Duplication of thumb...	OMIM:200990
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Bulbous nose, Depressed nasal bridge, Choanal atresia, Short nose	ORPHA:284169
Short Stature, Microcephaly, And Endocrine Dysfunction	Prominent nasal bridge, Broad nasal tip, Long nose, Limb undergrowth, Clinodactyly, Lymphopenia, ...	OMIM:616541
Developmental And Epileptic Encephalopathy 75	Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
Bannayan-Riley-Ruvalcaba Syndrome	Wide nose, Anteverted nares, Micrognathia, Pectus excavatum, Joint hyperflexibility, Short nose, ...	ORPHA:109
Waardenburg Syndrome Type 1	Mandibular prognathia, Underdeveloped nasal alae, Wide nasal bridge, Sprengel anomaly, Short nose	ORPHA:894
Ring Chromosome 7 Syndrome	Mandibular prognathia, Anteverted nares, Single transverse palmar crease, Prominent nasal bridge,...	ORPHA:1449
Mosaic Trisomy 9	Rocker bottom foot, Camptodactyly of finger, Micromelia, Micrognathia, Elbow dislocation, Bulbous...	ORPHA:99776
Oculocerebral Hypopigmentation Syndrome, Cross Type	Anteverted nares, Arachnodactyly, Depressed nasal bridge, Abnormal thumb morphology, Limitation o...	ORPHA:2719
Pseudotrisomy 13 Syndrome	Postaxial foot polydactyly, Postaxial hand polydactyly, 11 pairs of ribs, 2-3 toe syndactyly	OMIM:264480
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Wide nasal bridge, Shortening of all distal phalanges of the fingers, Broad nasal tip	OMIM:614207
Hydrolethalus	Micromelia, Micrognathia, Postaxial hand polydactyly, Abnormality of the sense of smell, Retrogna...	ORPHA:2189
Coffin-Siris Syndrome	Joint laxity, Delayed eruption of teeth, Anteverted nares, Depressed nasal bridge, Broad nasal ti...	ORPHA:1465
Developmental Malformations-Deafness-Dystonia Syndrome	Hypoplastic scapulae, Femoral retroversion, Micromelia	ORPHA:79107
Frontofacionasal Dysplasia	Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, Dimple on nasal ...	ORPHA:1791
Gapo Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Wide anterior fontanel, Eruption failure,...	OMIM:230740
Khan-Khan-Katsanis Syndrome	Postaxial polydactyly, Micrognathia, Anemia, Joint contracture, Neutropenia, Clinodactyly, Lympho...	OMIM:618460
Vater/Vacterl Association	Syndactyly, Abnormal nasopharynx morphology, Choanal atresia, Absent radius, Short thumb, Hypopla...	OMIM:192350
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Finger syndactyly, Micrognathia, Bulbous nose, 2-3 toe syndactyly, Talipes equi...	OMIM:620025
Xylt1-Cdg	Pes planus, Coxa valga, Flared metaphysis, Short long bone, Short femoral neck, Short clavicles, ...	ORPHA:370930
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Congenital hip dislocation, Anteverted nares, Broad nasal tip, Carious teeth, Generalized joint l...	ORPHA:357074
Helsmoortel-Van Der Aa Syndrome	Joint laxity, Broad hallux, Sandal gap, Anteverted nares, Tapered finger, Carious teeth, Broad na...	OMIM:615873
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Anteverted nares, Depressed nasal bridge, Micrognathia, Abnormal ilium morphology, Short nose, Sh...	OMIM:614080
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Lacrimoauriculodentodigital Syndrome	Syndactyly, Finger syndactyly, Toe syndactyly, Duplication of thumb phalanx, Abnormal dental enam...	ORPHA:2363
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	1-2 toe syndactyly, Broad hallux, Anteverted nares, Tapered finger, Choanal atresia, Narrow nose,...	OMIM:301044
1P36 Deletion Syndrome	11 pairs of ribs, Depressed nasal bridge, Camptodactyly of finger, Joint stiffness, Abnormality o...	ORPHA:1606
Microphthalmia, Syndromic 3	Vertebral fusion, Missing ribs, Rib fusion, Supernumerary ribs, Vertebral hypoplasia	OMIM:206900
Vacterl With Hydrocephalus	Absence of the sacrum, Micrognathia, Hypoplasia of the radius, Hip dislocation, Retrognathia	ORPHA:3412
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Dend Syndrome	Clinodactyly of the 4th finger, Short nose, Anteverted nares, Elevated hemoglobin A1c	ORPHA:79134
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Micrognathia, Clinodactyly of the 5th finger, Bilateral ...	ORPHA:199
Hydrolethalus Syndrome 1	Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx of ha...	OMIM:236680
Cerebrofaciothoracic Dysplasia	Wide nose, Rib fusion, Sprengel anomaly, Narrow chest, Bifid ribs, Short nose	ORPHA:1394
Foxg1 Syndrome Due To 14Q12 Microdeletion	Mandibular prognathia, Bulbous nose, Depressed nasal bridge, Short nose	ORPHA:261144
Absent Radius-Anogenital Anomalies Syndrome	Hypoplasia of the radius, Ectrodactyly, Oligodactyly	ORPHA:3016
Fontaine Progeroid Syndrome	Mandibular prognathia, Syndactyly, Depressed nasal bridge, Craniosynostosis, Micrognathia, Wide a...	OMIM:612289
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Wide anterior fontanel, Short nose, Congenital hip dislocation, Contracture of the proximal inter...	ORPHA:457279
Leukocyte Adhesion Deficiency Type Ii	Mandibular prognathia, Neutrophilia, Overlapping toe, Depressed nasal bridge, Microcytic anemia, ...	ORPHA:99843
C Syndrome	Toe syndactyly, Bilateral single transverse palmar creases, Anteverted nares, Micromelia, Microgn...	ORPHA:1308
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Microretrognathia, Proportionate shortening of all digits, Anteverted nares, Tapered finger, Smal...	ORPHA:280633
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Toe syndactyly, Bulbous nose, Hypoplasia of the radius, Wide nasal bridge, Clinodactyly of the 5t...	ORPHA:140952
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short metacarpal, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Cubitus valgus, Shor...	OMIM:617157
Ellis Van Creveld Syndrome	Delayed eruption of teeth, Micromelia, Capitate-hamate fusion, Short thorax, Genu valgum, Acute l...	ORPHA:289
Macrocephaly/Autism Syndrome	Joint laxity, Depressed nasal bridge, Splenomegaly, Short nose, Lymphopenia	OMIM:605309
Chromosome 1P36 Deletion Syndrome, Distal	11 pairs of ribs, Depressed nasal bridge, Camptodactyly of finger, Metatarsus adductus, Wide ante...	OMIM:607872
Chops Syndrome	Anteverted nares, Splenomegaly, Tracheomalacia, Cervical C2/C3 vertebral fusion, Short nose, Brac...	OMIM:616368
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Broad nasal tip, Micrognathia, Wide nasal bridge, Short nose	OMIM:300749
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs	ORPHA:77298
Cadds	Short nose, Micrognathia	ORPHA:369942
Menke-Hennekam Syndrome 1	Narrow nasal bridge, Overlapping toe, Broad hallux, Sandal gap, Micrognathia, Anteverted nares, D...	OMIM:618332
Renal And Mullerian Duct Hypoplasia	Short nose, Micrognathia	OMIM:266810
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Anteverted nares, Micrognathia, Small hand, Fibular hypoplasia, Hypoplasia of proximal radius, Tr...	ORPHA:444077
Witteveen-Kolk Syndrome	Proximal placement of thumb, Short palm, Clinodactyly of the 5th finger, Hyperplasia of the maxil...	OMIM:613406
Toriello-Lacassie-Droste Syndrome	Brachydactyly, Anteverted nares, Short nose, Short palm	ORPHA:3339
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Anteverted nares, Concave nasal ridge, Malar flattening, Short nose	OMIM:613038
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Retrognathia, Short middle phalanx of finger, Clinodactyly of the 5th fin...	OMIM:301030
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Joint laxity, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly, Bilateral ...	ORPHA:522077
Ogden Syndrome	Congenital hip dislocation, Micrognathia, Iron deficiency anemia, Clinodactyly of the 5th finger,...	OMIM:300855
9q subtelomeric deletion syndrome	Short nose, Anteverted nares	DECIPHER:52
Pallister-Hall Syndrome	Depressed nasal ridge, Microretrognathia, Mesoaxial polydactyly, Radial bowing, Anteverted nares,...	ORPHA:672
Toriello-Carey Syndrome	Micrognathia, Wide anterior fontanel, Narrow chest, Clinodactyly, Short nose, Brachydactyly	ORPHA:3338
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Arachnodactyly, Depressed nasal bridge, Sagittal craniosynostosis, Absent thumb, Hypoplasia of th...	ORPHA:500150
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Retrognathia, Anteverted nares, Hypoplasia of teeth	OMIM:234050
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Underdeveloped nasal alae, Abnormal nostril morphology, Short nose, An...	ORPHA:2315
Specc1L-Related Hypertelorism Syndrome	Finger syndactyly, Prominent nasal bridge, Pectus excavatum, Short toe, Wide nasal bridge, Clinod...	ORPHA:1519
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Anteverted nares, Single transverse palmar crease, Tapered finger, Carious teeth, Shor...	OMIM:619522
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Barrel-shaped chest, Joint stiffness, Thrombocytopenia, Flexion contracture, Pectus carinatum, He...	ORPHA:505248
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Abnormal cartilage morphology, Bone cyst, Osteolysis	ORPHA:2396
Williams-Beuren Syndrome	Hallux valgus, Osteopenia, Joint laxity, Anteverted nares, Down-sloping shoulders, Depressed nasa...	OMIM:194050
Neu-Laxova Syndrome 1	Finger syndactyly, Wide nose, Toe syndactyly, Rocker bottom foot, Micromelia, Micrognathia, Long ...	OMIM:256520
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Prominent nasal bridge, Tapered finger, Abnormal toe morphology, Underdeveloped na...	ORPHA:268261
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Joint laxity, Microretrognathia, Arachnodactyly, Pectus excavatum, Generalized joint laxity, Dist...	OMIM:601776
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Prominent nasal bridge, Wide nasal bridge	OMIM:619179
Smith-Lemli-Opitz Syndrome	Microretrognathia, Overlapping toe, Anteverted nares, Micromelia, Proximal placement of thumb, Me...	OMIM:270400
White-Kernohan Syndrome	Joint laxity, Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Hip dysplasia,...	OMIM:619426
Pallister-Killian Syndrome	Congenital hip dislocation, Single transverse palmar crease, Micrognathia, Flexion contracture, C...	OMIM:601803
Trichothiodystrophy 1, Photosensitive	Short nose, Flexion contracture, Retrognathia	OMIM:601675
Williams Syndrome	Osteopenia, Micrognathia, Clinodactyly of the 5th finger, Spina bifida occulta, Joint laxity, Inc...	ORPHA:904
Adenylosuccinase Deficiency	Short nose, Anteverted nares	OMIM:103050
Deeah Syndrome	Decreased hemoglobin concentration, Overlapping fingers, Prominent nasal tip, Short nose, Retrogn...	OMIM:619004
1P21.3 Microdeletion Syndrome	Broad nasal tip, Short nose, Joint hypermobility, Micrognathia	ORPHA:293948
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Short nose	ORPHA:280200
Genitourinary And/Or Brain Malformation Syndrome	Syndactyly, Aplasia of the nasal bone, Micrognathia, Joint stiffness, Short nose	OMIM:618820
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Anteverted nares	OMIM:613735
Peters Plus Syndrome	Toe syndactyly, Rhizomelia, Anteverted nares, Micromelia, Micrognathia, Depressed nasal bridge, S...	ORPHA:709
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Sin...	OMIM:619503
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Joint laxity, Mandibular prognathia, Prominent nasal tip, Sandal gap, Broad nasal tip, Long finge...	OMIM:620330
Holoprosencephaly 7	Hypoplasia of the premaxilla, Flat nasal alae, Absent nasal septal cartilage, Wide nasal bridge, ...	OMIM:610828
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Anteverted nares	ORPHA:96147
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Leukocytosis, Flexion contracture, Genu valgum, Short nose, Convex nasal ridge	OMIM:619321
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Anteverted nares, Wide nasal bridge, Micrognathia	ORPHA:2282
Okamoto Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Splenomegaly, Wide nasal bri...	ORPHA:2729
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Joint laxity, Osteomyelitis, Anteverted nares, Single transverse palmar crease, Bulbous nose, Wid...	OMIM:619475
Oeis Complex	11 pairs of ribs, Absence of the sacrum, Congenital hip dislocation, Talipes equinovarus	OMIM:258040
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Arachnodactyly, Micrognathia, Osteopathia striata, Fibular hypoplasia...	OMIM:300373
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Depressed nasal bridge, Convex nasal ridge, Gout	OMIM:300661
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Depressed nasal bridge, Underdeveloped nasal alae, Hypoplasia of the maxilla, Rhinitis, Taurodont...	OMIM:305100
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Short nose	OMIM:252160
Branchiooculofacial Syndrome	Depressed nasal bridge, Single transverse palmar crease, Proximal placement of thumb, Micrognathi...	OMIM:113620
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Malar flattening, Short nose, ...	OMIM:229400
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose	OMIM:252150
Peroxisome Biogenesis Disorder 4B	Short nose, Single transverse palmar crease	OMIM:614863
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	11 pairs of ribs	OMIM:615287
Penile Agenesis	Depressed nasal bridge, Bilateral talipes equinovarus, Short nose	ORPHA:49
Lipodystrophy, Familial Partial, Type 7	Short nose, Narrow nasal ridge	OMIM:606721
Pseudoxanthoma Elasticum		OMIM:264800

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 Xylt1

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 Xylt1.

No publications found that use IMPC mice or data for Xylt1.

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MGI Allele	Allele Type	Produced
Xylt1^em1(IMPC)J	Exon Deletion	Mice

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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Gene: Xylt1 MGI:2451073

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

MicroCT E18.5

Auditory Brain Stem Response

Human diseases caused by Xylt1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data