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Gene: Xylt1 MGI:2451073

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Gene Summary

Name:
xylosyltransferase 1
Synonyms:
N/A

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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 System Allele Zyg Sex Life Stage P Value
abnormal facial morphology Xylt1em1(IMPC)J HOM E18.5 0.00
preweaning lethality, complete penetrance Xylt1em1(IMPC)J HOM   Early adult 0.00
decreased thigmotaxis Xylt1em1(IMPC)J HET Early adult 8.92×10-05
abnormal vocalization Xylt1em1(IMPC)J HET Early adult 2.94×10-10
abnormal coat/hair pigmentation Xylt1em1(IMPC)J HET Early adult 4.20×10-12
abnormal limb morphology Xylt1em1(IMPC)J HOM E18.5 0.00
abnormal behavior Xylt1em1(IMPC)J HET Early adult 8.92×10-05

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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.

Interactive Embryo Viewer Interactive Embryo Viewer
MicroCT E18.5

Embryo reconstruction

6 Images

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Eye Morphology

Images Slit Lamp

1 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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Desbuquois Syndrome
Depressed nasal bridge, Small hand, Elbow dislocation, Camptodactyly of finger, Anteverted nares,... ORPHA:1425
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Flat acetabular roof, Advanced ossification of carpal bones, H... OMIM:615777
Xylt1-Cdg
Broad thumb, Clinodactyly, Flared metaphysis, Short clavicles, Pes planus, Short long bone, Short... ORPHA:370930
Pseudoxanthoma Elasticum
OMIM:264800

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Coxa Vara
Coxa vara OMIM:122750
Hypoplastic Femurs And Pelvis
Hypoplastic pelvis, Short femur OMIM:619545
Blount Disease, Infantile
Abnormality of the proximal tibial epiphysis, Genu varum OMIM:188700
Syndactyly Type 4
Toe syndactyly, Short tibia, Camptodactyly of finger, Hand polydactyly, Triphalangeal thumb, Foot... ORPHA:93405
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Rhizomelic Dysplasia, Ain-Naz Type
Rhizomelia, Wide distal femoral metaphysis, Short humerus, Hypoplasia of the femoral head, Hip dy... OMIM:619598
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Finger aplasia, Short tibia, Foot oligodactyly, Fibular aplasia, Tibial bowing, Syndactyly OMIM:246570
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Rhizomelic Chondrodysplasia Punctata, Type 3
Rhizomelia, Epiphyseal stippling, Short humerus, Short femur OMIM:600121
Tibial Torsion, Bilateral Medial
Bowing of the legs, Tibial torsion OMIM:188800
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, S... OMIM:201250
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Metatropic Dysplasia
Epiphyseal dysplasia, Hypoplasia of the odontoid process, Caudal appendage, Genu valgum, Flat ace... OMIM:156530
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Narrow chest, Micromelia, Flared metaphysis, Advanced tarsal ossification... OMIM:215045
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 3rd metacarpal, Short tibia, Micromelia, Epiphyseal stippling, Short 4th metacarpal, Limb u... OMIM:118651
Metaphyseal Anadysplasia 2
Micromelia, Short femoral neck, Metaphyseal widening, Metaphyseal irregularity, Genu varum, Bowin... OMIM:613073
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Tibial Hemimelia
Absent tibia OMIM:275220
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Depressed nasal bridge, Narrow chest, Coarse metaphyseal trabecularization, Anteverted nares, Sho... OMIM:618961
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Osseous Heteroplasia, Progressive
Ankylosis, Limb undergrowth, Ectopic ossification in muscle tissue OMIM:166350
Osebold-Remondini Syndrome
Mesomelia, Short tibia, Short toe, Type A brachydactyly, Radial deviation of finger, Carpal synos... OMIM:112910
Acromesomelic Dysplasia, Grebe Type
Synostosis of carpal bones, Short tibia, Micromelia, Short toe, Aplasia of the middle phalanges o... ORPHA:2098
Achondrogenesis Type 2
Hypoplastic ilia, Narrow chest, Micromelia, Absent vertebral body mineralization, Delayed pubic b... ORPHA:93296
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Tibial bowing, Joint hypermob... OMIM:114000
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Acheiropody
Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, Carpal bone aplas... OMIM:200500
Langer Mesomelic Dysplasia
Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shortening, Micrognathia, Broad ul... OMIM:249700
Axial Spondylometaphyseal Dysplasia
Abnormal ilium morphology, Hypoplastic iliac wing, Abnormal metacarpal morphology, Flat acetabula... ORPHA:168549
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Osteopenia, Coronal craniosynostosis, Natal tooth, Extramedulla... ORPHA:313855
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Pectus carinatum, Hip dislocation, Hypoplastic ilia, Delayed vertebral ossification, Flexion cont... OMIM:613330
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Hypoplastic nasal bridge, Abnormal femoral met... OMIM:200600
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Van Bogaert-Hozay Syndrome
Depressed nasal bridge, Osteolytic defects of the phalanges of the hand, Micrognathia, Distal uln... OMIM:277150
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Acromegaloid Changes, Cutis Verticis Gyrata, And Corneal Leukoma
Mandibular prognathia, Periostosis, Large hands OMIM:102100
Acrodysostosis
Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology of the radius, Shor... ORPHA:950
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Finger syndactyly, Ectrodactyly, Preaxial hand polydactyly, Abno... ORPHA:3329
Achondrogenesis, Type Ib
Hypoplastic ilia, Narrow chest, Micromelia, Absent or minimally ossified vertebral bodies, Malar ... OMIM:600972
Griscelli Syndrome, Type 1
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... OMIM:214450
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thin ribs, Radial bowing, Severe limb shortening, Flat acetabular roof, Hypoplastic ischia, Hypop... OMIM:151210
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Fibu... ORPHA:1972
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Advanced tarsal ossification, Malar flat... OMIM:269250
Hyperparathyroidism, Transient Neonatal
Thin ribs, Osteopenia, Fractured rib, Narrow chest, Wide nasal bridge, Metaphyseal spurs, Depress... OMIM:618188
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg... ORPHA:1856
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Eiken Syndrome
Abnormal fingertip morphology, Delayed epiphyseal ossification, Abnormal trabecular bone morpholo... ORPHA:79106
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Depressed nasal bridge, Metaphyseal cupping, Narrow chest, Micro... OMIM:613320
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Short tibia, Radial bowing, Short toe, Abnormal metatarsal morp... OMIM:127300
Caffey Disease
Cortical thickening of long bone diaphyses, Cortical irregularity, Periosteal thickening of long ... ORPHA:1310
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Broad femoral neck, Arthralgia of the hip, Flared femoral metaphysis, Genu ... OMIM:609324
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Rhizomelic Dysplasia, Patterson-Lowry Type
Depressed nasal ridge, Rhizomelia, Deviation of finger, Genu valgum, Deformed humeral heads, Shor... ORPHA:2831
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Microgna... OMIM:602471
Fibrochondrogenesis 2
Hypoplastic ilia, Metaphyseal cupping, Thoracic hypoplasia, Anteverted nares, Bell-shaped thorax,... OMIM:614524
Greenberg Dysplasia
Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification centers, Hepatosp... OMIM:215140
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Hypoplasia of th... OMIM:612447
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Prieto Syndrome
Clinodactyly, Radial deviation of finger, Retrognathia, 11 pairs of ribs, Prominent nose, Talipes... OMIM:309610
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Wide nasal bridge, Osteopenia, Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter... OMIM:616897
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Neonatal dea... OMIM:108720
Brachydactyly, Type A1, C
Short distal phalanx of finger, Short 1st metacarpal, Short middle phalanx of the 2nd finger, Fib... OMIM:615072
Fibular Dimelia-Diplopodia Syndrome
Absent tibia ORPHA:1757
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Thoracomelic Dysplasia
Narrow chest, Abnormal pelvic girdle bone morphology, Elbow dislocation, Genu valgum, Bell-shaped... ORPHA:1803
Rhizomelic Chondrodysplasia Punctata, Type 2
Wide nasal bridge, Osteopenia, Rhizomelia, Depressed nasal bridge, Abnormal pelvic girdle bone mo... OMIM:222765
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Hypoplasia of the capital femoral epiphysis, Monkey wrench femoral neck, Ad... OMIM:617719
Kyphomelic Dysplasia
Narrow chest, Limitation of joint mobility, Micromelia, Joint stiffness, Micrognathia, Undulate r... ORPHA:1801
Raine Syndrome
Choanal atresia, Mandibular prognathia, Depressed nasal bridge, Natal tooth, Micromelia, Thoracic... OMIM:259775
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Flat acetabular roof, Short dis... OMIM:271700
Brachydactyly Type A2
Aplasia/Hypoplasia of the middle phalanx of the 2nd finger, Short middle phalanx of finger, Type ... ORPHA:93396
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Metaphyseal irregularity, Broad femoral neck, Arthralgia of the hip, Hypopl... OMIM:607078
Spondyloepimetaphyseal Dysplasia, Missouri Type
Flared metaphysis, Small epiphyses, Femoral bowing, Tibial bowing, Knee osteoarthritis, Flattened... ORPHA:93356
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Short femoral neck, Corner fracture of metaphysis, Coxa vara,... OMIM:184255
Mietens-Weber Syndrome
Elbow flexion contracture, Narrow nose, Dislocated radial head, Forearm undergrowth, Absent proxi... OMIM:249600
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Broad pha... OMIM:271665
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Natal tooth, Distal shortening of limbs, Micrognathia, Bowing of the long b... ORPHA:50945
Bone Dysplasia, Lethal Holmgren Type
Depressed nasal ridge, Rhizomelia, Narrow chest, Abnormal epiphysis morphology, Micromelia, Abnor... ORPHA:1842
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Convex nasal ridge, Lower limb undergrowth OMIM:218650
Endove Syndrome, Limb-Only Type
Cutaneous syndactyly of toes, Aplasia of the distal phalanges of the toes, Short middle phalanx o... OMIM:619217
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Metaphyseal cup... OMIM:300863
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Bro... OMIM:228520
Fibular Hemimelia
Toe syndactyly, Structural foot deformity, Finger syndactyly, Short tibia, Limited knee flexion/e... ORPHA:93323
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Micromelia, Preaxial polydactyly, Thoracic hypoplasia, Micrognathia, Ulnar bowing,... OMIM:617866
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Micromelia, Short femoral neck, Flared metap... OMIM:602557
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Fibular aplasia, Brachydactyly, Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split ... OMIM:113310
Multiple Synostoses Syndrome 1
Hypoplastic nasal septum, Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphal... OMIM:186500
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Anteverted nares, Micrognathia, Epiphyseal stipplin... OMIM:619135
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Narrow chest, Postaxial foot polydactyly, Acetabular spurs, Horizontal ribs, Short ribs, Brachyda... OMIM:617405
Achondrogenesis, Type Ii
Microretrognathia, Broad long bones, Short tubular bones of the hand, Hypoplastic iliac wing, Abs... OMIM:200610
Dysosteosclerosis
Natal tooth, Absent paranasal sinuses, Sclerosis of hand bone, Micrognathia, Absent frontal sinus... OMIM:224300
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Joint stiffness... ORPHA:2249
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Retrognathia, Micrognathia, Single t... OMIM:227270
Autosomal Dominant Omodysplasia
Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Elbow dislocation, Micrognathia, Malar ... ORPHA:93328
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Narrow chest, Joint contracture of the hand, Limitation of joint mobility, Micromelia, Broad long... OMIM:224400
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... OMIM:600920
Phoar2-Enteropathy Syndrome
Hyperostosis, Clubbing, Periostosis OMIM:614441
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Short femoral neck, Joint hypermobility, Carpal bone hypoplasia, Hypoplasia of the uln... OMIM:618395
Atelosteogenesis Type Ii
Wide nasal base, Hypoplastic cervical vertebrae, Elbow dislocation, Genu valgum, Micrognathia, Be... ORPHA:56304
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen... ORPHA:42665
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Short thumb,... ORPHA:3258
Bent Bone Dysplasia Syndrome 2
Thin ribs, Osteopenia, Depressed nasal bridge, Hypoplastic acetabulae, Short 1st metacarpal, Shor... OMIM:620076
Greenberg Dysplasia
Rhizomelia, Narrow chest, Micromelia, Abnormal pelvis bone ossification, Micrognathia, Abnormal l... ORPHA:1426
Ulnar Hypoplasia With Impaired Intellectual Development
Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement OMIM:276821
3M Syndrome
Thin ribs, Hypoplastic ischia, Abnormality of the elbow, Bulbous nose, Horizontal ribs, Short tho... ORPHA:2616
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal pelvic girdle bone morphology, Abnormal metaphysis morphology, Abnormal metacarpal morph... ORPHA:2370
Achondrogenesis Type 1A
Narrow chest, Abnormal enchondral ossification, Micromelia, Short nose, Anteverted nares, Microgn... ORPHA:93299
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Metaphyseal cupping, Choanal atresia, Pathologic fracture, Micrognathia, Hip contract... OMIM:156400
Autosomal Recessive Omodysplasia
Depressed nasal bridge, Rhizomelia, Micromelia, Elbow dislocation, Short nose, Anteverted nares, ... ORPHA:93329
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Subperiosteal bone formation, Osteosclerosis of the base of the skull OMIM:609993
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Broad ribs, Osteomyelitis, Abscess, Splenomegaly, Flaring of rib cage, N... OMIM:612852
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Anterior rib cupping, Genu varum, Femoral bowing, Short long bon... ORPHA:174
Kyphomelic Dysplasia
Depressed nasal bridge, Limitation of joint mobility, Radial bowing, Micromelia, Flared metaphysi... OMIM:211350
Chromosome 17P13.3, Telomeric, Duplication Syndrome
3-4 finger syndactyly, Short tibia, Short toe, Absent hallux, Oligodactyly, Ectrodactyly, Contrac... OMIM:612576
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Rhizomelia, Hypoplastic scapulae, Micromelia, Micrognathia, Femoral bowing, Dumbbell-shaped long ... ORPHA:440354
Achondrogenesis Type 1B
Narrow chest, Abnormal enchondral ossification, Micromelia, Abnormal rib morphology, Anteverted n... ORPHA:93298
Rhizomelic Dysplasia, Patterson-Lowry Type
Rhizomelia, Deformed humeral heads, Short humerus, Brachydactyly, Coxa vara, Short metatarsal, Sh... OMIM:601438
Rhizomelic Chondrodysplasia Punctata, Type 5
Metaphyseal cupping, Contractures of the large joints, Short femoral neck, Short humerus, Thoraci... OMIM:616716
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of the ulna, Aplasia... OMIM:119100
Hypophosphatasia, Infantile
Unossified vertebral bodies, Metaphyseal cupping, Rachitic rosary, Micromelia, Increased suscepti... OMIM:241500
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ... OMIM:187601
Pseudoachondroplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Genu valgum, Wind-swept defo... ORPHA:750
Omodysplasia 2
Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Broad femoral neck, Short 1st metacar... OMIM:164745
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Pyknoachondrogenesis
Abnormal intramembranous ossification, Craniofacial hyperostosis, Depressed nasal ridge, Short il... ORPHA:3003
Three M Syndrome 1
Short 5th finger, Depressed nasal bridge, Mandibular prognathia, Slender long bone, Anteverted na... OMIM:273750
Brachydactyly-Syndactyly, Zhao Type
Short fifth metatarsal, Toe syndactyly, Short 5th metacarpal, Short middle phalanx of the 2nd fin... ORPHA:93409
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Wide nasal bridge, Depressed nasal bridge, Finger syndactyly, Aplasia of the proximal phalanges o... ORPHA:2256
Brachydactyly, Preaxial, With Hallux Varus And Thumb Abduction
Short distal phalanx of finger, Short thumb, Hallux varus, Short hallux, Hitchhiker thumb, Short ... OMIM:112450
Lethal Recessive Chondrodysplasia
Narrow chest, Micromelia, Micrognathia, Flared elbow metaphyses, Limb undergrowth, Generalized os... ORPHA:1423
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Hypoplasia of the femoral head, Talipes equinovarus, Flat capital femoral e... OMIM:226900
Pallister-Hall-Like Syndrome
Depressed nasal bridge, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Micrognathia, Sho... OMIM:241800
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Depressed nasal bridge, Narrow chest, Hypoplastic ilia, Micromelia, Thoracic hypoplasia, Lateral ... OMIM:617895
Fetal Akinesia Deformation Sequence 4
Wide nasal bridge, Retrognathia, 11 pairs of ribs, Micrognathia, Neonatal death, Camptodactyly, R... OMIM:618393
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Horizontal i... OMIM:250220
Mietens Syndrome
Wide nasal bridge, Elbow dislocation, Short nose, Avascular necrosis of the capital femoral epiph... ORPHA:2557
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Broad thumb, Toe syndactyly, Shallow acetabular fossae, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Chondrodysplasia With Joint Dislocations, Gpapp Type
Wide nasal bridge, Coronal craniosynostosis, Short toe, Genu valgum, Micrognathia, Limited elbow ... OMIM:614078
Metatropic Dysplasia
Depressed nasal bridge, Narrow chest, Hypoplastic cervical vertebrae, Micromelia, Coarse metaphys... ORPHA:2635
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Thick nasal alae, Micrognathia, Malar flattening, Hypoplasia of the ulna, Wide nose ORPHA:357175
Uncombable Hair Syndrome
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Synostosis of carpal bones, Micromelia, Abnormal rib morphology, Upper limb und... ORPHA:93351
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Achondrogenesis
Narrow chest, Abnormal enchondral ossification, Micromelia, Anteverted nares, Micrognathia, Short... ORPHA:932
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Malar flattening, Talipes equinovarus, Brachydactyly, A... ORPHA:52056
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Thick nasal alae, Micrognathia, Malar flattening, Hypoplasia of the ulna, Wide nose OMIM:615162
Acromesomelic Dysplasia 2B
Deformed tarsal bones, Rhizomelia, Deviation of finger, Talipes equinovalgus, Fibular aplasia, Ma... OMIM:228900
Cervical Hypertrichosis-Peripheral Neuropathy Syndrome
Periostitis, Osteomyelitis ORPHA:2218
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa hypoplasia, Metata... ORPHA:85170
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Distal Duplication 5Q
Carious teeth, Absent thumb, Micrognathia, Prominent nasal bridge, Hypoplasia of the ulna, Hypopl... ORPHA:96097
Congenital Syphilis
Periostitis, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly, Tibial... ORPHA:499009
Achondroplasia
Depressed nasal bridge, Rhizomelia, Radial bowing, Flared metaphysis, Thoracic hypoplasia, Femora... OMIM:100800
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn... OMIM:251230
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Malar flattening, Radioulnar synostosis, Enamel hypoplasia, Hypoplasi... OMIM:212780
Polydactyly, Postaxial, Type A7
Short fifth metatarsal, Postaxial hand polydactyly, Postaxial foot polydactyly, 2-3 toe cutaneous... OMIM:617642
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Diaphanospondylodysostosis
Enlarged thorax, Absent or minimally ossified vertebral bodies, Missing ribs, Short thorax, Narro... ORPHA:66637
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Genu valgum, Carpal bone hypoplasia, Broad phalanx, Metaphyseal dysplasia, Short foot, Genu varum... OMIM:250420
Spondylometaphyseal Dysplasia, Type A4
Pectus carinatum, Hypoplasia of the capital femoral epiphysis, Metaphyseal sclerosis, Sclerotic h... OMIM:609052
17Q21.31 Microduplication Syndrome
Toe syndactyly, Sandal gap, Anteverted nares, Micrognathia, Malar flattening, Clinodactyly of the... ORPHA:217340
Orofaciodigital Syndrome Viii
Syndactyly, Short tibia, Polydactyly OMIM:300484
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Recurrent fractures, Short humerus, Lateral femoral bowing, Bowing of the long bones,... OMIM:239000
Cooper-Jabs Syndrome
Camptodactyly of finger, Anteverted nares, Abnormal hip bone morphology, Malar flattening, Joint ... ORPHA:1488
Seckel Syndrome 4
11 pairs of ribs, Retrognathia, Underdeveloped nasal alae, Steep acetabular roof OMIM:613676
Poland Syndrome
Hypoplasia of deltoid muscle, Short ribs, Unilateral oligodactyly, Rib fusion, Sprengel anomaly, ... OMIM:173800
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Narrow chest, Flared metaphysis, Abnormal cartilage morphology, Broad long bone... ORPHA:2347
Intellectual Developmental Disorder, X-Linked 91
Short 5th finger, Small hand, Clinodactyly, Cubitus valgus, Short foot, Short nose OMIM:300577
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Depressed nasal ridge, Bifid femur, Carious teeth, Failure of eruption of perm... ORPHA:2769
Dyssegmental Dysplasia, Silverman-Handmaker Type
Wide nasal bridge, Hypoplastic ilia, Narrow chest, Limitation of joint mobility, Micromelia, Club... ORPHA:1865
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Hypoplastic facial bones, Rhizomelia, Microretrognathia, Narrow chest, Short tibia, Unicoronal sy... OMIM:616300
Fibrochondrogenesis
Depressed nasal bridge, Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morpho... ORPHA:2021
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Rickets of the lower limbs, Femoral ... OMIM:600785
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Mesomelic/rhizomelic limb s... ORPHA:2632
Metaphyseal Chondrodysplasia, Schmid Type
Broad middle phalanx of finger, Short distal phalanx of finger, Metaphyseal cupping of metacarpal... OMIM:156500
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
Ulnar Hypoplasia-Split Foot Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot ORPHA:1122
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Depressed nasal bridge, Anteverted nares, Hypoplasia of ... OMIM:615398
Diabetes Insipidus, Neurohypophyseal
Osteopenia, Short nose, Wide nose OMIM:125700
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Hidrotic Ectodermal Dysplasia
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... ORPHA:189
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Flared met... OMIM:187600
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Limb undergrowth, Abnormal limb bone morphology,... ORPHA:2204
Craniosynostosis, Herrmann-Opitz Type
Micromelia, Finger syndactyly, Micrognathia, Malar flattening, Split hand, Brachydactyly, Abnorma... ORPHA:2145
Mucolipidosis Iii Alpha/Beta
Shallow acetabular fossae, Limitation of joint mobility, Broad ribs, Irregular carpal bones, Shor... OMIM:252600
Desbuquois Dysplasia 1
Radial deviation of the 2nd finger, Broad first metatarsal, Talipes equinovarus, Flattened epiphy... OMIM:251450
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Slender finger, Narrow chest, Depressed nasal bridge, Hemiatrophy of upper limb, Anteverted nares... ORPHA:163649
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna OMIM:107900
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi... ORPHA:2909
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Malar flattening, Short ribs, F... ORPHA:3144
Cranioectodermal Dysplasia 1
Clinodactyly, Broad distal phalanges of all fingers, Broad toe, Flattened epiphysis, Short toe, F... OMIM:218330
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Dentinogenesis imperfecta, Limitation of joint mobility, Upper limb undergrowth... ORPHA:166277
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Narrow chest, Thoracic dysplasia, Irregular epiphyses, Hypoplastic iliac wing, Hypoplastic pelvis... OMIM:208500
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Osteopenia, Sandal gap, Short toe, Short 5th metacarpal, 11 pairs of ribs, Anteverted nares, Spin... OMIM:617877
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact... OMIM:308050
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Thoracic hypoplasia, Thoracic dysplasia, Genu valgum, Bell-shaped thorax, Splenomegaly, Short rib... OMIM:615630
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... OMIM:619947
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Depressed nasal bridge, Narrow chest, Natal tooth, Short tibia, Preaxial polydactyly, Micrognathi... OMIM:617925
Poland Syndrome
Small hand, Acute leukemia, Finger syndactyly, Aplasia/Hypoplasia of the sternum, Aplasia/Hypopla... ORPHA:2911
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... ORPHA:2790
Codas Syndrome
Depressed nasal bridge, Congenital hip dislocation, Hypoplasia of the odontoid process, Absent ep... OMIM:600373
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Depressed nasal bridge, Toe syndactyly, Elbow flexion contracture, Anteverted nares, ... OMIM:616809
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Pectus carinatum, Short ribs, Missing ribs, Pseudoarthrosis, Pectus excavatum OMIM:618155
Acrofacial Dysostosis Syndrome Of Rodriguez
Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs of ribs, Fibular... OMIM:201170
Thoracolaryngopelvic Dysplasia
Hypoplastic iliac wing, Bell-shaped thorax, Hypoplastic pelvis, Horizontal ribs, Short ribs, Meta... OMIM:187760
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl... ORPHA:958
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Diastrophic Dysplasia
Depressed nasal bridge, Ulnar deviation of finger, Hypoplastic cervical vertebrae, Micromelia, Ab... ORPHA:628
Terminal Osseous Dysplasia
Toe clinodactyly, Short toe, Clinodactyly, Camptodactyly of finger, Mesomelic leg shortening, Dep... OMIM:300244
Ghosal Hematodiaphyseal Dysplasia
Abnormal pelvic girdle bone morphology, Abnormal tibia morphology, Abnormal femur morphology, Bow... ORPHA:1802
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... OMIM:600081
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Anemia of inadequate production, Radioul... OMIM:614900
W Syndrome
Depressed nasal bridge, Broad nasal tip, Radial bowing, Clinodactyly, Elbow dislocation, Cubitus ... ORPHA:2804
Meier-Gorlin Syndrome 3
Narrow chest, Microretrognathia, Hypoplasia of the maxilla, Short thorax, Patellar hypoplasia, Tr... OMIM:613803
Femoral-Facial Syndrome
Aplasia/Hypoplasia of the tibia, Abnormal pelvic girdle bone morphology, Preaxial foot polydactyl... ORPHA:1988
Odontochondrodysplasia
Dentinogenesis imperfecta, Narrow chest, Depressed nasal bridge, Square pelvis bone, Micromelia, ... ORPHA:166272
Woolly Hair
Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality... ORPHA:170
Acromicric Dysplasia
Small hand, Fifth metacarpal with ulnar notch, Abnormal epiphysis morphology, Bulbous nose, Joint... ORPHA:969
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal shoulder morphology, Micrognathia, Long thorax, Brachydactyly, Convex nasal ridge, Mesom... ORPHA:1277
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Abnormal cementum morphology, Mandibular osteomyelitis, Dent... ORPHA:83451
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... ORPHA:1350
Melnick-Needles Syndrome
Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Hip dislocation, Delayed erup... OMIM:309350
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Recurrent upper respiratory tract infections, Short tibia, Sandal gap, Wide nose, Sho... OMIM:607143
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Femoral bowing, Tibial bowing OMIM:166740
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Depressed nasal bridge, Cone-shaped epiphysis, Thoracic hypoplasia, Small cervical vertebral bodi... ORPHA:397715
Trochlea Of The Humerus, Aplasia Of
Short humerus OMIM:191000
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Broad phalanx, Short phalanx of finger, Short metacarpal, Broad metacarpals OMIM:618724
Ollier Disease
Micromelia, Abnormal cartilage morphology, Joint stiffness, Anemia, Multiple enchondromatosis, Ab... ORPHA:296
Thoracic Dysostosis, Isolated
Pectus excavatum, Bell-shaped thorax, Short ribs OMIM:187750
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Small thenar eminence, Absent radius, Abnormal nasopharynx morpholog... OMIM:607323
Grant Syndrome
Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Pectus carinatum, Depressed nasal bridge, Toe syndactyly, Anteverted nares, Micrognathia, Short c... ORPHA:171839
Occipital Horn Syndrome
Pectus carinatum, Broad clavicles, Narrow chest, Broad ribs, Genu valgum, Limited elbow extension... OMIM:304150
Chondrodysplasia Punctata 1, X-Linked Recessive
Depressed nasal bridge, Short distal phalanx of finger, Anosmia, Epiphyseal stippling, Short nasa... OMIM:302950
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Thoracic hypoplasia, Preaxial polydactyly, Acetabular s... OMIM:613091
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Interphalangeal joint contracture of finger, Elbow flexion contracture... ORPHA:1145
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Chronic rhinitis,... ORPHA:3312
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Micrognathia, Malar flattening, Hypoplasia of the uln... ORPHA:246
Diaphanospondylodysostosis
Depressed nasal ridge, Depressed nasal bridge, Thoracic hypoplasia, Delayed vertebral ossificatio... OMIM:608022
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short distal phalanx of finger, Hypoplastic scapulae, Narrow chest, Micromelia, Thoracic dysplasi... OMIM:614091
Acrodysostosis 2 With Or Without Hormone Resistance
Depressed nasal bridge, Cone-shaped epiphysis, Anteverted nares, Malar flattening, Brachydactyly,... OMIM:614613
Basal Cell Nevus Syndrome 1
Wide nasal bridge, Palmar pits, Short distal phalanx of the thumb, Abnormal sternum morphology, S... OMIM:109400
Acrocephalopolydactyly
Depressed nasal ridge, Thoracic hypoplasia, Hepatosplenomegaly, Limb undergrowth, Brachydactyly, ... ORPHA:221054
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Hyperostosis, Taurodontia, Pulp calcification, Enamel hypoplasia, Subperiosteal bone formation OMIM:211900
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Wide nasal bridge, Carious teeth,... OMIM:277440
Atelosteogenesis, Type Ii
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Dumbbell-shaped femur, Sandal gap... OMIM:256050
Epiphyseal Dysplasia, Baumann Type
Epiphyseal dysplasia, Ulnar deviation of finger, Carpal bone aplasia, Genu valgum, Hypoplasia of ... OMIM:610797
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Foot acroosteolysis, Metacarpal periosteal thickening, Metatarsal periosteal thickening, Perioste... OMIM:161700
Hallermann-Streiff Syndrome
Choanal atresia, Small hand, Rib exostoses, Natal tooth, Tracheomalacia, Underdeveloped nasal ala... ORPHA:2108
Weaver Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Hypoplastic iliac wing, Overlapping toe... OMIM:277590
Opsismodysplasia
Depressed nasal bridge, Narrow chest, Broad thumb, Squared iliac bones, Abnormal epiphysis morpho... ORPHA:2746
Mesomelic Limb Shortening And Bowing
Retrognathia, Camptodactyly of finger, Mesomelic leg shortening, Micrognathia, Bowing of the arm,... OMIM:249710
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... OMIM:268310
Orofaciodigital Syndrome Iv
Toe syndactyly, Short tibia, Clinodactyly, Short finger, Micrognathia, Postaxial polydactyly, Han... OMIM:258860
Spondyloepiphyseal Dysplasia, Nishimura Type
Delayed epiphyseal ossification, Small hand, Brachydactyly, Cone-shaped epiphyses of the phalange... OMIM:618618
Osteogenesis Imperfecta, Type Ii
Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long bones, Bell-sh... OMIM:166210
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... OMIM:617604
Odontochondrodysplasia 1
Flat acetabular roof, Cone-shaped epiphyses of the phalanges of the hand, Genu varum, Short metac... OMIM:184260
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ... OMIM:143095
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Joint stiffness, Abnormal metaph... ORPHA:1040
Cerebrocostomandibular Syndrome
Posterior rib gap, Congenital hip dislocation, Carious teeth, Thoracic hypoplasia, Rib gap, Elbow... OMIM:117650
Omodysplasia 1
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Short tibia, Limited knee flexion/extensio... OMIM:258315
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Patellar aplasia, Aphalangy of the ... OMIM:218600
Thrombocytopenia-Absent Radius Syndrome
Hip dislocation, Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Fibular aplasia, ... ORPHA:3320
Acro-Renal-Ocular Syndrome
Short distal phalanx of the thumb, Toe syndactyly, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Ellis-Van Creveld Syndrome
Pectus carinatum, Capitate-hamate fusion, Postaxial foot polydactyly, Narrow chest, Natal tooth, ... OMIM:225500
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Foot oligodactyly, Amelia, Short femur OMIM:601357
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Epiphyseal dysplasia, Depressed nasal bridge, Osteopenia, Metaphyseal dysplasia, Craniosynostosis... OMIM:614732
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Fragmentation of the metacarpal epiphyses, Reduced arm span, Arthralgia of the hip, Abnormality o... ORPHA:166002
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Hepatosplenomegaly, Microgna... OMIM:266920
Fatco Syndrome
Finger syndactyly, Abnormal tibia morphology, Absent hand, Split hand, Abnormal fibula morphology... ORPHA:2492
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Micrognathia... OMIM:304120
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Rickets, Delayed eruption of teet... OMIM:264700
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Wide nasal bridge, Clinodactyly, Anteverted nares, Micrognathia, Unilambdoid synostosis, Ulnar de... OMIM:618577
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Mesomelic leg shortening, Hum... ORPHA:93333
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... OMIM:602418
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Schinzel-Giedion Midface Retraction Syndrome
Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Abnormal nasopharynx morphology, Long ... OMIM:269150
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Bulging of the costochondral junctio... OMIM:241530
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Depressed nasal bridge, Narrow chest, Lateral clavicle hook, Preaxial polydactyly, Thoracic dyspl... OMIM:615503
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Periosteal thickening of long tubular bones, Clubbing of fingers OMIM:167100
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Rhizomelia, Narrow chest, Brachydactyly, Broad palm, Postaxial hand polydactyly, Short foot, Shor... OMIM:611263
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Bowing of the long bones, Broad phalanx, Short foot, Short met... OMIM:166250
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Hand clenching, Absent humerus, Short tibia, Thoracic hypoplasia, Elbow d... ORPHA:56305
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Broad clavicles, Recurrent upper respiratory tract infections, Delayed eruption of teeth, Rhizome... ORPHA:508542
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Delayed epiphyseal ossification, Rhizomelia, Small epiphyses, Micrognathia,... ORPHA:166016
Multiple Osteochondromas
Rib exostoses, Limitation of joint mobility, Abnormal tibia morphology, Abnormal hand morphology,... ORPHA:321
Campomelic Dysplasia
Small abnormally formed scapulae, Depressed nasal bridge, Narrow chest, Hip dislocation, Tracheom... ORPHA:140
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:607624
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Enlarged metaphyses, Delayed epiphyseal ossification, Elbow dislocation, Micrognathia, Hip contra... OMIM:210710
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Camptodactyly of finger, Micrognathia, Mesomelic/rhizom... ORPHA:2839
Pfeiffer Syndrome
Coronal craniosynostosis, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe... OMIM:101600
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Depressed nasal bridge, Dumbbell-shaped femur, Sandal gap, Limitation of jo... ORPHA:1427
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Wide nasal bridge, Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent ... ORPHA:1352
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Osteopenia, Depressed nasal bridge, Proximal femoral epiphysiolysis, Overlapping toe, Femoral bow... OMIM:616723
Vitamin K Antagonist Embryofetopathy
Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Anteverted nares, Epiphy... ORPHA:1914
Antley-Bixler Syndrome
Choanal atresia, Narrow chest, Hypoplasia of the zygomatic bone, Camptodactyly of finger, Joint s... ORPHA:83
Maxillonasal Dysplasia, Binder Type
Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Sho... OMIM:155050
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Enlarged epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Distal ulnar epiphyseal ... OMIM:609616
Craniosynostosis With Fibular Aplasia
Fibular aplasia OMIM:218550
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Limitation of joint mobility, Abnormal epiphysis morphology, Epiphyseal stippling, Li... ORPHA:177
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Overlapping toe, Genu valgum, Carpal bone hypoplasia, Tibial metaphyseal irregularity, Short meta... ORPHA:457395
Osteogenesis Imperfecta, Type Xvi
Osteopenia, Rhizomelia, Microretrognathia, Narrow chest, Decreased calvarial ossification, Bowing... OMIM:616229
Postaxial Acrofacial Dysostosis
Choanal atresia, Congenital hip dislocation, Short thumb, Micrognathia, Malar flattening, Radioul... OMIM:263750
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Anteverted nares, Micrognathia, Short nose ORPHA:2015
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Genu valgum, Neutropenia, Genu varum, Short nose, Osteopenia, Bulbous nose, Small epiphyses, Limi... OMIM:271510
Coxoauricular Syndrome
Abnormal pelvic girdle bone morphology, Micromelia, Abnormal femur morphology, Reduced bone miner... ORPHA:1508
Congenital Contractures Of The Limbs And Face, Hypotonia, And Developmental Delay
Wide nasal bridge, Congenital contracture, Enlarged naris, Elbow flexion contracture, 11 pairs of... OMIM:616266
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short 4th toe, Anteverted nares, Short humerus, Brachydactyly, Short lower ... ORPHA:420794
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Hypoplasia of the odontoid process, Finger swelling, Limitation of joint mob... ORPHA:93284
Pfeiffer Syndrome Type 1
Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Bicoronal synostosis, Apl... ORPHA:93258
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... OMIM:613265
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Micrognathia, Genu valgum, Talipes equinovarus, Radioulnar synostosis, Broad... OMIM:245600
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Narrow chest, Natal tooth, Short toe, Short finger, Thoracic dysplasia, Bow... OMIM:269860
Femoral-Facial Syndrome
Toe syndactyly, Micrognathia, Humeroradial synostosis, Limited elbow movement, Talipes equinovaru... OMIM:134780
Focal Dermal Hypoplasia
Toe syndactyly, Coarse metaphyseal trabecularization, Finger syndactyly, Abnormal epiphysis morph... ORPHA:2092
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Short Stature, Brussels Type
Delayed epiphyseal ossification, Calcification of cartilage, Narrow chest, Microretrognathia ORPHA:2867
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Malar flattening, Short ribs, Short clavic... OMIM:603116
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... ORPHA:2639
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Wide nasal bridge, Depressed nasal bridge, Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly... OMIM:620073
Alagille Syndrome
Short distal phalanx of finger, Clinodactyly of the 5th finger, Micrognathia, Hypoplasia of the u... ORPHA:52
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Limitation of joint mobility, Abnormal hand morpho... ORPHA:93307
Seckel Syndrome 1
Ivory epiphyses, Hip dislocation, Dental malocclusion, Sandal gap, Hypoplasia of proximal radius,... OMIM:210600
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar synostosis, Abnormal metacarpal... ORPHA:2319
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Rudimentary fibula, Elbow flexion ... OMIM:200980
Non-Distal Duplication 10Q
Depressed nasal bridge, Micrognathia, Joint hypermobility, Convex nasal ridge, Pectus excavatum, ... ORPHA:1695
Ulbright-Hodes Syndrome
Thin ribs, Depressed nasal bridge, Abnormal forearm bone morphology, Fibular aplasia, Micrognathi... ORPHA:3404
Marshall-Smith Syndrome
Choanal atresia, Retrognathia, Slender long bone, Anteverted nares, Increased susceptibility to f... ORPHA:561
Maxillonasal Dysplasia
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Depressed nasal... ORPHA:1248
Shox-Related Short Stature
Micrognathia, Genu valgum, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... ORPHA:314795
Shprintzen-Goldberg Syndrome
Osteopenia, Pectus carinatum, Narrow chest, Hypoplasia of the maxilla, Retrognathia, Elbow disloc... ORPHA:2462
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Epiphyseal dysplasia, Radial bowing, Carpal synostosis, Genu valgum, Micrognathia, Talipes equino... OMIM:271640
Radial Ray Hypoplasia With Choanal Atresia
Depressed nasal bridge, Choanal atresia, Short thumb, Distally placed thumb, Choanal stenosis, Hy... OMIM:179270
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
C Syndrome
Wide nasal bridge, Ulnar deviation of finger, Toe syndactyly, Postaxial foot polydactyly, Clinoda... OMIM:211750
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Mesomelic arm shortening, Short met... OMIM:268305
Osteogenesis Imperfecta, Type X
Thin ribs, Genu valgum, Micrognathia, Fibular bowing, Bowing of the long bones, Osteopenia, Thora... OMIM:613848
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
11 pairs of ribs, Bicoronal synostosis, Joint stiffness, Prominent nasal bridge, Joint hypermobil... OMIM:619184
Kniest Dysplasia
Delayed epiphyseal ossification, Depressed nasal bridge, Rhizomelia, Hip dislocation, Dumbbell-sh... OMIM:156550
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sacroiliac joint... ORPHA:1860
Spondylometaphyseal Dysplasia, A4 Type
Limitation of joint mobility, Micromelia, Flared, irregular rib ends, Coxa vara, Short palm ORPHA:168555
Immunodeficiency 43
Reduced natural killer cell count, Radial bowing, Hypoplasia of the ulna, Lung abscess, B lymphoc... OMIM:241600
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Overlapping toe, Micrognathia, Talipes equinovarus, Radioulnar syno... OMIM:154400
Acromesomelic Dysplasia 1
Acromesomelia, Thoracolumbar kyphosis, Radial bowing, Short toe, Flared metaphysis, Long hallux, ... OMIM:602875
Weismann-Netter Syndrome
Squared iliac bones, Fibular bowing, Anterior tibial bowing, Lateral femoral bowing OMIM:112350
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Spondylometaphyseal Dysplasia, Kozlowski Type
Delayed epiphyseal ossification, Abnormal ilium morphology, Hypoplasia of the odontoid process, R... ORPHA:93314
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Wide nasal bridge, Depressed nasal bridge, Narrow chest, Thoracic hypoplasia, Trident pelvis, Sho... OMIM:619479
Waardenburg Syndrome, Type 2A
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... OMIM:193510
Paget Disease Of Bone 2, Early-Onset
Fractures of the long bones, Femoral bowing, Osteosclerosis of the ulna, Bowing of the long bones... OMIM:602080
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal epiphysis morphology, Retrognathia, Elbow dislocation, Camptodactyly of finger, Abnormal... ORPHA:2631
Catel-Manzke Syndrome
Hyperphalangy of the 2nd finger, Pectus carinatum, Short toe, Narrow naris, Ulnar deviation of th... OMIM:616145
Ring Chromosome 8 Syndrome
Anteverted nares, Deviation of finger, Short nose ORPHA:1450
Difference Of Sex Development-Intellectual Disability Syndrome
Genu valgum, Short thorax, Spina bifida occulta, Reduced bone mineral density, Short nose ORPHA:2983
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Wide nasal bridge, Angel-shaped phalanx, Short distal phalanx of finger, Narrow chest, Carious te... OMIM:617102
Camptodactyly Syndrome, Guadalajara Type 1
Short distal phalanx of finger, Pectus carinatum, Toe syndactyly, Narrow chest, Short toe, Dental... ORPHA:1327
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Wide nasal bridge, Choanal atresia, Joint hypermobility, Arachnodactyly, Missing ribs, Long palm,... ORPHA:2759
Spondyloepimetaphyseal Dysplasia, Missouri Type
Rhizomelia, Metaphyseal cupping, Radial bowing, Flared metaphysis, Small epiphyses, Femoral bowin... OMIM:602111
Weiss-Kruszka Syndrome
Single transverse palmar crease, Prominent nasal tip, Clinodactyly of the 5th finger, Proximal pl... ORPHA:502430
14Q11.2 Microdeletion Syndrome
Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Micrognathia, Short nose ORPHA:261120
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Micrognathia, Decreased skull ossification, Aplasia ... ORPHA:3472
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pectus carinatum, Broad femoral neck, Hypoplastic sacrum, Upper limb undergrowth, Genu valgum, Li... OMIM:271650
Craniofacial-Deafness-Hand Syndrome
Depressed nasal ridge, Hypoplasia of the maxilla, Ulnar deviation of finger, Depressed nasal brid... ORPHA:1529
Nail-Patella Syndrome
Triceps aplasia, Elongated radius, Patellar hypoplasia, Hypoplastic radial head, Biceps aplasia, ... OMIM:161200
Pde4D Haploinsufficiency Syndrome
Micrognathia, Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Short metacarpal, Short n... ORPHA:439822
Atelosteogenesis Type I
Rhizomelia, Micrognathia, Talipes equinovarus, Limb undergrowth, Abnormal ossification involving ... ORPHA:1190
Ophthalmomandibulomelic Dysplasia
Radioulnar dislocation, Lateral humeral condyle aplasia, Radial bowing, Elbow dislocation, Tempor... OMIM:164900
Cranioectodermal Dysplasia 2
Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Narrow chest, Clinodactyly, Polysplenia, R... OMIM:613610
Premature Aging Syndrome, Penttinen Type
Thin ribs, Micrognathia, Aplasia of the nasal bone, Flexion contracture of finger, Short foot, Sh... OMIM:601812
Autosomal Dominant Spondylocostal Dysostosis
Wide nasal bridge, Short thorax, Anteverted nares, Missing ribs, Abnormal rib morphology, Spina b... ORPHA:1797
Orofaciodigital Syndrome Ix
Camptodactyly, Hand polydactyly, Toe syndactyly, Short tibia OMIM:258865
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Mandibular prognathia, Micromelia ORPHA:2252
Spondyloepiphyseal Dysplasia Congenita
Aplasia/hypoplasia involving bones of the extremities, Abnormal foot morphology, Upper limb under... ORPHA:94068
Ermine Phenotype
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... OMIM:227010
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Neonatal death, Hand polydactyly, Absent radius, Proximal placement of thumb OMIM:314390
Distal Duplication 18Q
Choanal atresia, Carious teeth, Deviation of finger, Camptodactyly of finger, Anteverted nares, M... ORPHA:1716
Jeune Syndrome
Narrow chest, Toe syndactyly, Postaxial foot polydactyly, Micromelia, Short thorax, Abnormal clav... ORPHA:474
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyly, Talipes equinovaru... OMIM:119800
Pierpont Syndrome
Broad nasal tip, Short toe, Prominent fingertip pads, Short finger, Malar flattening, Deep palmar... OMIM:602342
Ulnar-Mammary Syndrome
Short 5th finger, Hypoplastic scapulae, Aplasia of the 3rd finger, Short 5th toe, Short 4th toe, ... OMIM:181450
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Equinovarus deformity, Short femoral neck, Flared metaphysis, Short palm, Broad foot, Aplasia/Hyp... ORPHA:2502
Acrocapitofemoral Dysplasia
Pectus carinatum, Cone-shaped metacarpal epiphyses, Narrow chest, Abnormal femoral neck morpholog... ORPHA:63446
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Squared iliac bones, Metaphyseal spurs, Micromelia, Thoracic hypoplasia, Posterior rib cupping, I... OMIM:608728
Ruvalcaba Syndrome
Small hand, Narrow chest, Micromelia, Underdeveloped nasal alae, Narrow nose, Limited elbow exten... OMIM:180870
Lethal Osteosclerotic Bone Dysplasia
Depressed nasal ridge, Retrognathia, Anteverted nares, Micrognathia, Mandibular aplasia, Short nose ORPHA:1832
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Hypochromic anemia, Rickets, Rach... ORPHA:289157
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of ... ORPHA:163966
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... OMIM:203200
Dysostosis, Stanescu Type
Hypoplasia of the maxilla, Carious teeth, Abnormal epiphysis morphology, Micromelia, Massively th... ORPHA:1798
Tetraamelia-Multiple Malformations Syndrome
Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia involving the pelvis, Micrognathia, Mis... ORPHA:3301
Solitary Bone Cyst
Abnormal ilium morphology, Abnormal tibia morphology, Lytic defects of the radius, Pathologic fra... ORPHA:83468
Pycnodysostosis
Small hand, Carious teeth, Acromelia, Hypoplastic iliac wing, Hepatosplenomegaly, Micrognathia, D... ORPHA:763
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Thoracic hypoplasia, Limited elbow extension, Limb undergrowth, Pectus excavatum, Bowing of the legs ORPHA:156728
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Micromelia, Joint hypermobility, Decreased calvarial ossification, Abnormal rib morphology, Recur... ORPHA:2772
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Obesity And Hypopigmentation
Red hair, Polyphagia OMIM:620195
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Wide nasal bridge, 11 pairs of ribs, Micrognathia, Prominent nasal bridge, Hyperextensibility of ... OMIM:618356
Microphthalmia With Limb Anomalies
Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial foot polydactyly, Short ... ORPHA:1106
Phenylketonuria
Depression, Fair hair, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hype... OMIM:261600
Achondroplasia
Thoracolumbar kyphosis, Depressed nasal bridge, Rhizomelia, Hip joint hypermobility, Thoracic hyp... ORPHA:15
Temtamy Preaxial Brachydactyly Syndrome
Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Micrognathia, Complete duplication o... ORPHA:363417
Camptodactyly Syndrome, Guadalajara Type 3
Wide nasal base, Osteopenia, Small hand, Broad nasal tip, Broad femoral neck, Retrognathia, Broad... ORPHA:488434
Chung-Jansen Syndrome
Anteverted nares, Micrognathia, Joint hypermobility, Hip dysplasia, Clinodactyly of the 5th finge... OMIM:617991
Al-Gazali Syndrome
Osteopenia, Broad distal phalanx of finger, Micrognathia, Recurrent fractures, Bowed humerus, Wri... OMIM:609465
Stuve-Wiedemann Syndrome 1
Short tibia, Micrognathia, Metaphyseal rarefaction, Talipes, Bowing of the long bones, Hypoplasti... OMIM:601559
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... ORPHA:895
Hypotrichosis 8
Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ... OMIM:278150
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Rickets, Bulging epiphyses, Osteomalacia, Enlargement of the wri... OMIM:300554
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Carious teeth, Hypoplastic cerv... OMIM:114290
Peho-Like Syndrome
Retrognathia, Short nose, Tapered finger OMIM:617507
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Delayed epiphyseal ossification, Osteopenia, Mandibular prognathia, Hypoplasia of the odontoid pr... OMIM:616007
Ruvalcaba Syndrome
Pectus carinatum, Small hand, Narrow chest, Synostosis of carpal bones, Micromelia, Cone-shaped e... ORPHA:3121
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Wide nasal bridge, Osteopenia, Retrognathia, Limb undergrowth, Joint contracture, Neutropenia, Hi... OMIM:618005
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Noonan Syndrome 12
Lymphopenia, 11 pairs of ribs, Thrombocytopenia, Pectus excavatum, Proximal placement of thumb OMIM:618624
Developmental And Epileptic Encephalopathy 73
Flexion contracture, Narrow nasal bridge, Short nose, Hip dysplasia OMIM:618379
Brachytelephalangic Chondrodysplasia Punctata
Short distal phalanx of finger, Hypoplasia of the maxilla, Depressed nasal ridge, Hypoplastic cer... ORPHA:79345
Slc35A2-Cdg
Aplasia/hypoplasia involving bones of the extremities, Short tibia, Camptodactyly of finger, Abno... ORPHA:356961
Phosphoribosylaminoimidazole Carboxylase Deficiency
Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nares, Neonatal de... OMIM:619859
Orofaciodigital Syndrome X
Finger aplasia, Fibular aplasia, Coalescence of tarsal bones, Preaxial hand polydactyly OMIM:165590
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Polysyndactyly of hallux, Pectus carinatum, Narrow chest, Postaxial polysyndactyly of foot, Preax... OMIM:263520
Mesomelia-Synostoses Syndrome
Synostosis of joints, Synostosis of carpal bones, Abnormal tibia morphology, Micrognathia, Genu v... ORPHA:2496
Spondyloepimetaphyseal Dysplasia, Shohat Type
Delayed epiphyseal ossification, Fibular overgrowth, Abnormal epiphysis morphology, Thoracic hypo... ORPHA:93352
Chikungunya
Periostitis, Epistaxis, Joint stiffness, Synovitis, Arthritis, Enthesitis, Stiff interphalangeal ... ORPHA:324625
Steinfeld Syndrome
Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypoplasia of the ulna, ... OMIM:184705
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Micrognathia, Diaphyseal undertubulation, Finger joint hypermobil... OMIM:620663
Robinow Syndrome, Autosomal Dominant 2
Short distal phalanx of finger, Depressed nasal bridge, Broad thumb, Dental malocclusion, Clinoda... OMIM:616331
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ap... OMIM:276820
Teebi Hypertelorism Syndrome 1
Wide nasal bridge, Coronal craniosynostosis, Small hand, Depressed nasal bridge, Natal tooth, Ant... OMIM:145420
Seckel Syndrome 5
Retrognathia, 11 pairs of ribs, Micrognathia, Prominent nasal bridge, Enamel hypoplasia, Convex n... OMIM:613823
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Radial bowing, Genu valgum, Metaphyseal dysplasia, Thoracic hypoplasia, Femoral bowing, Limited e... OMIM:618019
Mesomelic Dysplasia, Kantaputra Type
Ulnar deviation of finger, Synostosis of carpal bones, Camptodactyly of finger, Dumbbell-shaped h... ORPHA:1836
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Hyperplasia of the maxilla, Narrow naris, Micrognathia, Abnormal metacarpal morphol... OMIM:268300
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Finger syndactyly, Micromelia, Ca... ORPHA:2633
Codas Syndrome
Depressed nasal bridge, Abnormal pelvic girdle bone morphology, Congenital hip dislocation, Abnor... ORPHA:1458
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Depressed nasal bridge, Narrow chest, Micromelia, Abnormal pelvis bone ossification, Preaxial han... ORPHA:93271
Microphthalmia With Limb Anomalies
Flared nostrils, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, 2-5 toe syndact... OMIM:206920
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum... OMIM:256710
Periventricular Nodular Heterotopia 7
Microretrognathia, 1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2... OMIM:617201
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Clubbing of toes, Aplasia/Hypoplasia of the radius, Toe syndactyly... ORPHA:84
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... ORPHA:79414
Kniest Dysplasia
Enlarged metaphyses, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Bell-sh...