Gene Summary

EvC ciliary complex subunit 2
limbin,  Ellis van Creveld syndrome 2,  Lbn

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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
hydrometra Evc2em1(IMPC)Mbp HOM Early adult 0.00
enlarged heart Evc2em1(IMPC)Mbp HOM Early adult 0.00
decreased body length Evc2em1(IMPC)Mbp HOM Early adult 2.78×10-16
abnormal skin morphology Evc2em1(IMPC)Mbp HOM Early adult 0.00
decreased grip strength Evc2em1(IMPC)Mbp HOM   Early adult 7.08×10-05
decreased prepulse inhibition Evc2em1(IMPC)Mbp HOM   Early adult 1.41×10-07
decreased blood urea nitrogen level Evc2em1(IMPC)Mbp HOM   Early adult 9.26×10-05
abnormal retina morphology Evc2em1(IMPC)Mbp HOM   Early adult 6.47×10-05
abnormal spleen morphology Evc2em1(IMPC)Mbp HOM Early adult 0.00
decreased circulating total protein level Evc2em1(IMPC)Mbp HOM Early adult 9.64×10-05
abnormal uterus morphology Evc2em1(IMPC)Mbp HOM Early adult 0.00
abnormal heart morphology Evc2em1(IMPC)Mbp HOM Early adult 0.00
abnormal gallbladder morphology Evc2em1(IMPC)Mbp HOM Early adult 0.00
small spleen Evc2em1(IMPC)Mbp HOM Early adult 0.00
absent teeth Evc2em1(IMPC)Mbp HOM Early adult 3.16×10-05
abnormal cecum morphology Evc2em1(IMPC)Mbp HOM Early adult 0.00

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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.


XRay Images Whole Body Dorso Ventral

42 Images


XRay Images Whole Body Lateral Orientation

14 Images



2 Images

Human diseases caused by Evc2 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 predicted to be associated to Evc2 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Rhizomelic Chondrodysplasia Punctata, Type 3
Short humerus, Short femur, Rhizomelia, Epiphyseal stippling, Disproportionate short-limb short s... OMIM:600121
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Faciocardiomelic Dysplasia, Lethal
Hypoplasia of the ulna, Radial deviation of the hand, Small for gestational age, Single transvers... OMIM:227270
Eiken Syndrome
Delayed epiphyseal ossification, Limited elbow flexion, Abnormal bone ossification, Short palm, S... ORPHA:79106
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... OMIM:201250
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Leri-Weill Dyschondrosteosis
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... OMIM:127300
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Short stature, Absent thumb, Microcephaly, Fibular hypoplasi... OMIM:612447
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity... OMIM:249700
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... OMIM:112910
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Limitation of join... ORPHA:93405
Multiple Epiphyseal Dysplasia, Lowry Type
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Cleft hard palate, ... ORPHA:166016
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Scleros... ORPHA:85188
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Severe short stature, Wid... OMIM:619598
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Short stature, Abnormal morphology of ulna, Micromelia, Humeror... ORPHA:2019
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Thoracomelic Dysplasia
Abnormal fibula morphology, Genu valgum, Bell-shaped thorax, Joint hyperflexibility, Abnormal pel... ORPHA:1803
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... ORPHA:2634
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Death in infancy, Tarsa... ORPHA:2098
Chondrodysplasia, Blomstrand Type
Micromelia, Micrognathia, Generalized osteosclerosis, Squared iliac bones, Flared metaphysis, Adv... OMIM:215045
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Angioosteohypotrophic Syndrome
Hypoplasia of the ulna, Short humerus, Abnormal trabecular bone morphology, Aplasia/hypoplasia in... ORPHA:75508
Ophthalmomandibulomelic Dysplasia
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Temporomandibular joint ... OMIM:164900
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Micrognathia, Missing ribs, Joint sti... ORPHA:1801
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Short humerus, Short stature, Micromelia, Microcephaly, Postaxial hand polydactyly, Split hand, A... ORPHA:2491
Brachydactyly Type A1
Hypoplasia of the ulna, Short stature, Short hallux, Short thumb, Short foot, Cone-shaped epiphys... ORPHA:93388
Ulnar Hypoplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes... OMIM:191440
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Delayed vertebral ossification, Metaphyseal dysplasia, Enlarged epiphyses, Thoracic kyphoscoliosi... OMIM:613330
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type
Short tibia, Hypoplasia of the radius, Pseudoarthrosis OMIM:156230
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Brachydactyly, Short stature, Aplasia/Hypoplasia of the fibula, Short foot, Growth delay, Aplasia... ORPHA:52056
Langer Mesomelic Dysplasia
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Micromelia, Aplasia/... ORPHA:2632
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Short stature, Elbow dislocation, Absent radius, ... OMIM:171480
Mental Retardation Syndrome, Mietens-Weber Type
Pes planus, Elbow flexion contracture, Severe postnatal growth retardation, Forearm undergrowth, ... OMIM:249600
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Axial Spondylometaphyseal Dysplasia
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal... ORPHA:168549
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Hypoplasia of the ulna, Broad hallux, Talipes, Limited elbow extension, Short metatarsal, Disprop... ORPHA:1856
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Swan neck-like deformities of the fingers, Short stature, Microcephaly, Coxa vara,... OMIM:616716
Hypoplastic Femurs And Pelvis
Short femur, Hypoplastic pelvis OMIM:619545
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Osseous Heteroplasia, Progressive
Limb undergrowth, Ankylosis, Ectopic ossification in muscle tissue OMIM:166350
Craniosynostosis-Mental Retardation-Clefting Syndrome
Craniosynostosis, Microcephaly, Orofacial cleft, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Mesomelic Dysplasia, Savarirayan Type
Abnormal foot morphology, Talipes equinovalgus, Abnormal thorax morphology, Hip dislocation, Fibu... OMIM:605274
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Brachydactyly, Metaphyseal widening, Squared iliac bones, Short long bone, Short ribs, Narrow che... OMIM:618961
Achondrogenesis Type 2
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... ORPHA:93296
Mesomelic Dysplasia, Savarirayan Type
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Short stature, Elbow... ORPHA:85170
Ulna Hypoplasia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Broad hallux phalanx, Severe short stature, Talipes, Micromelia, Metatars... ORPHA:2249
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Short foot, Narrow chest, Mesomelia, Br... OMIM:611263
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Short stature, Micrognat... OMIM:602471
Metaphyseal Anadysplasia 2
Micromelia, Bowing of the legs, Metaphyseal widening, Short femoral neck, Metaphyseal irregularit... OMIM:613073
Seckel Syndrome 1
Cerebellar vermis hypoplasia, Dental crowding, Abnormal finger flexion crease, Single transverse ... OMIM:210600
Acromesomelic Dysplasia 2B
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... OMIM:228900
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand... ORPHA:3329
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell-shaped long... OMIM:151210
Fibrochondrogenesis 2
Thoracic hypoplasia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplast... OMIM:614524
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasia of the fibula, Abnormali... ORPHA:2141
Boomerang Dysplasia
Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae, Abnormal mor... ORPHA:1263
Rhizomelic Dysplasia, Patterson-Lowry Type
Mandibular prognathia, Short humerus, Short metacarpal, Rhizomelia, Coxa vara, Genu valgum, Devia... ORPHA:2831
Achondrogenesis, Type Ib
Micromelia, Hypoplastic ilia, Stillbirth, Short ribs, Absent or minimally ossified vertebral bodi... OMIM:600972
Van Bogaert-Hozay Syndrome
Tooth malposition, Distal ulnar hypoplasia, Osteolytic defects of the phalanges of the hand, Micr... OMIM:277150
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Microphthalmia With Limb Anomalies
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibial bowing, Camp... OMIM:206920
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Missing ribs, Pectus excavatum, Pectus carinatum, Short ribs, Pseudoarthrosis OMIM:618155
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Abnormality of the epiphyses of the elbow, Abnormality of the knee, Abnormal patella morphology, ... ORPHA:166002
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
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat... OMIM:147891
Schneckenbecken Dysplasia
Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later... OMIM:269250
Acrofacial Dysostosis Syndrome Of Rodriguez
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Short stature, Micrognathia, ... OMIM:201170
Limited hip extension, Distal joint laxity, Metaphyseal widening, Delayed epiphyseal ossification... ORPHA:750
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... OMIM:200600
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Ulnar Hypoplasia With Mental Retardation
Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement OMIM:276821
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Micromelia, Delayed epiphyseal ossification, Genu varum, Flared metaphysis, Coxa va... OMIM:602557
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Everted lower lip vermilion, Long... ORPHA:357175
Metaphyseal Anadysplasia
Bowing of the long bones, Abnormal morphology of ulna, Joint stiffness, Abnormality of the lower ... ORPHA:1040
Mesomelic Limb Shortening And Bowing
Camptodactyly of finger, Micrognathia, Bowing of the legs, Mesomelic arm shortening, Mesomelic le... OMIM:249710
Rhizomelic Chondrodysplasia Punctata, Type 2
Osteopenia, Short humerus, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Microcephaly, Submuc... OMIM:222765
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Thin upper lip vermilion, Micrognathia, Downturned corners of mouth, Ever... OMIM:615162
Mandibular prognathia, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radiu... ORPHA:950
Spondylometaphyseal Dysplasia, Corner Fracture Type
Hypoplasia of the odontoid process, Coxa vara, Pectus carinatum, Short femoral neck, Corner fract... OMIM:184255
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Joint laxity, Cupped... OMIM:250420
Atelosteogenesis Type Ii
Micromelia, Micrognathia, Tracheobronchomalacia, Narrow chest, Short phalanx of finger, Hypoplast... ORPHA:56304
Mietens Syndrome
Hypoplasia of the ulna, Severe short stature, Talipes, Coxa valga, Elbow dislocation, Metatarsus ... ORPHA:2557
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal dental morpholog... ORPHA:2878
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short metatarsal, Hypoplasia of the ulna, Short metacarpa... OMIM:271700
Robin Sequence With Cleft Mandible And Limb Anomalies
Proximal placement of thumb, Micrognathia, High palate, Clinodactyly of the 5th finger, Short tib... OMIM:268305
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi... ORPHA:440354
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird... ORPHA:1788
Ritscher-Schinzel Syndrome 3
Relative macrocephaly, Hypoplasia of the ulna, Thin upper lip vermilion, Cerebellar vermis hypopl... OMIM:619135
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Epiphyseal Dysplasia, Multiple, 5
Epiphyseal dysplasia, Short metacarpal, Premature osteoarthritis, Coxa vara, Genu valgum, Irregul... OMIM:607078
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570
Omodysplasia 2
Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Fibular hypoplasia,... OMIM:164745
Fibrochondrogenesis 1
Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior vertebral hyp... OMIM:228520
Bone Dysplasia, Lethal Holmgren Type
Metaphyseal dysplasia, Rhizomelia, Talipes, Micromelia, Abnormal thumb morphology, Abnormal femur... ORPHA:1842
Trochlea Of The Humerus, Aplasia Of
Short humerus, Cleft palate OMIM:191000
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Malabsorption, Abnorma... ORPHA:2315
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epip... OMIM:613320
Microcephaly-Micromelia Syndrome
Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Mic... OMIM:251230
Autosomal Dominant Omodysplasia
Short humerus, Rhizomelia, Micrognathia, Elbow dislocation, Patellar dislocation, Short palm, Mal... ORPHA:93328
Acromesomelic Dysplasia 3
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st... OMIM:609441
Atelosteogenesis, Type I
Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Ve... OMIM:108720
Achondrogenesis, Type Ii
Microretrognathia, Absent vertebral body mineralization, Barrel-shaped chest, Broad long bones, S... OMIM:200610
Ulnar Hypoplasia-Split Foot Syndrome
Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna ORPHA:1122
Orofaciodigital Syndrome Type 10
Micrognathia, Preaxial polydactyly, Short 4th finger, Short tibia, Radial deviation of the hand, ... ORPHA:2756
Astley-Kendall Dysplasia
Epiphyseal stippling, Micromelia ORPHA:85175
Lethal Recessive Chondrodysplasia
Micromelia, Micrognathia, Generalized osteosclerosis, Short long bone, Narrow chest, Flared elbow... ORPHA:1423
Gollop-Wolfgang Complex
Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o... ORPHA:1986
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Pes planus, Short stature, Tapered finger, Hip dislocation, Obesity, Knee... OMIM:618395
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal morphology of the radius, Brachydactyly, Short stature, Tarsal synostosis, Micromelia, A... ORPHA:2639
Orofaciodigital Syndrome Viii
Syndactyly, Median cleft lip, Short stature, Cleft palate, Polydactyly, High palate, Short tibia OMIM:300484
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication OMIM:188740
Spondyloepimetaphyseal Dysplasia, Irapa Type
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Limitation of joint mobility, Abnormal ... ORPHA:93351
Arms, Malformation Of
Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius OMIM:107900
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Rib fusion, Unilateral brachydactyly, Short ribs, Sprengel a... OMIM:173800
Hemidystonia-Hemiatrophy Syndrome
Abnormal basal ganglia MRI signal intensity, Rhizomelic leg shortening, Abnormal paranasal sinus ... ORPHA:306741
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia... OMIM:187600
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... OMIM:619217
Heyn-Sproul-Jackson Syndrome
11 pairs of ribs, Short metacarpal, Broad phalanx, Short phalanx of finger, Broad metacarpals OMIM:618724
Osteofibrous Dysplasia, Susceptibility To
Pseudoarthrosis, Fibular hypoplasia OMIM:607278
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Epiphyseal dysplasia, Flat distal femoral epiphysis, Proximal femoral metaphyseal irregularity, C... OMIM:609324
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Micrognat... OMIM:211350
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Agenesis of corpus callosum, Hypoplas... OMIM:613091
Ulnar Hemimelia
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Apl... ORPHA:93320
Cenani-Lenz Syndactyly Syndrome
Syndactyly, Hypoplasia of the ulna, Premature loss of permanent teeth, Broad hallux, Micrognathia... OMIM:212780
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy... OMIM:609945
Fibular Aplasia-Ectrodactyly Syndrome
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula ORPHA:1118
Acrocapitofemoral Dysplasia
Cone-shaped metacarpal epiphyses, Abnormal femoral neck morphology, Micromelia, Pectus excavatum,... ORPHA:63446
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Micrognathia, Abnormal shoulder morphology, Long thorax, Mesomelia, Brachydactyly ORPHA:1277
Spondylometaphyseal Dysplasia, A4 Type
Micromelia, Limitation of joint mobility, Coxa vara, Flared, irregular rib ends, Short palm ORPHA:168555
Shox-Related Short Stature
Short stature, Micrognathia, Madelung deformity, Obesity, Genu valgum, Short foot, Tibial bowing,... ORPHA:314795
Epiphyseal Dysplasia, Multiple, 7
Epiphyseal dysplasia, Monkey wrench femoral neck, Advanced ossification of carpal bones, Flat ace... OMIM:617719
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Lateral cla... OMIM:617895
Thoracic Dysostosis, Isolated
Pectus excavatum, Short ribs, Bell-shaped thorax OMIM:187750
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... OMIM:186500
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Bowing of the long bones, Broad long bones, Micromelia, Micrognathia, Equinovarus deformity, Meta... OMIM:224400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Splenomegaly, Cr... ORPHA:1655
Orofaciodigital Syndrome Iv
Toe syndactyly, Short stature, Postaxial polydactyly, Micrognathia, Accessory oral frenulum, Hama... OMIM:258860
Femoral-Facial Syndrome
Short femur, Micrognathia, Abnormal rib morphology, Rib fusion, Abnormal fibula morphology, Coxa ... ORPHA:1988
Greenberg Dysplasia
Micromelia, Micrognathia, Multiple prenatal fractures, Beaded ribs, Patchy variation in bone mine... OMIM:215140
Pelviscapular Dysplasia
Congenital hip dislocation, Short femur, Hypoplastic scapulae, Short stature, Hypoplastic ilia, H... ORPHA:93333
Upper Limb Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger ORPHA:2497
Weyers Ulnar Ray/Oligodactyly Syndrome
Proximal placement of thumb, Absent thumb, Micrognathia, Cleft upper lip, Hypoplasia of the radiu... OMIM:602418
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Dandy-Walker m... OMIM:616300
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Hypoplasia of the ulna, Finger syndactyly, Aplasia/Hypoplasia of the fibula, Micrognathia, Short ... ORPHA:2256
Rubinstein-Taybi Syndrome 2
Syndactyly, Broad hallux, Short stature, Micrognathia, Carious teeth, Microcephaly, Talon cusp, D... OMIM:613684
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Radial bowing, Thoracic hypoplasia, Micromelia, Micrognathia, Postaxial polydactyly, Missing ribs... OMIM:617866
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Rocker bottom foot, Micrognathia, Prenatal death, Camptodactyly, Neonatal death... OMIM:618393
Microphthalmia With Limb Anomalies
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... ORPHA:1106
Paget Disease Of Bone 5, Juvenile-Onset
Relative macrocephaly, Short humerus, Bowing of the long bones, Osteopenia, Increased bone minera... OMIM:239000
Death in infancy, Brachydactyly, Radial bowing, Rhizomelia, Short femur, Limited hip extension, B... OMIM:100800
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... ORPHA:1350
Thoracomelic Dysplasia
Bell-shaped thorax, Short ribs OMIM:273740
Schneckenbecken Dysplasia
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... ORPHA:3144
Orofaciodigital Syndrome Ix
Toe syndactyly, Median cleft lip, Short stature, Accessory oral frenulum, Abnormality of the dent... OMIM:258865
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... OMIM:300863
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Genu recurvatum, Tapered finger, Thick lower lip vermilion, Bro... OMIM:300602
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Short stature, Sm... ORPHA:140
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Small for gestation... OMIM:607143
Filippi Syndrome
Single transverse palmar crease, Microcephaly, 2-4 toe syndactyly, Postnatal growth retardation, ... OMIM:272440
Saul-Wilson Syndrome
Enlarged epiphyses, Short metacarpal, Pseudoepiphyses of the metacarpals, Short stature, Microgna... OMIM:618150
Kinsship Syndrome
Mandibular prognathia, Osteopenia, Single transverse palmar crease, Micrognathia, Downturned corn... OMIM:619297
Osteogenesis Imperfecta, Type X
Osteopenia, Joint laxity, Bowing of the long bones, Short femur, Rhizomelia, Thoracic scoliosis, ... OMIM:613848
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Osteopenia, Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Mi... OMIM:616897
Pallister-Hall-Like Syndrome
Death in infancy, Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislo... OMIM:241800
Hypophosphatasia, Infantile
Death in infancy, Micromelia, Bowing of the legs, Craniosynostosis, Increased susceptibility to f... OMIM:241500
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Short femur, Limited elbow movement, Micrognathia, Abnormal foot m... ORPHA:94068
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Lateral clavicle hook, Postaxial hand polydactyly, Cone-shaped epiphyses of the phalanges of the ... OMIM:615630
Epiphyseal Dysplasia, Multiple, 4
Epiphyseal dysplasia, Short metacarpal, Hypoplasia of the femoral head, Flat capital femoral epip... OMIM:226900
Distal Duplication 5Q
Hypoplasia of the ulna, Short stature, Craniosynostosis, Absent thumb, Micrognathia, Carious teet... ORPHA:96097
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Bowing of the legs, Pectus excavatum, Limb undergrowth, Limited elbow extension, Thoracic hypoplasia ORPHA:156728
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Thin upper lip vermilion, Ventricular septal defect, Thyroid lymphangiectasia, Micr... OMIM:235255
Prieto Syndrome
11 pairs of ribs, Coxa valga, Osteoporosis, Patellar subluxation, Talipes equinovarus, Radial dev... OMIM:309610
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Short stature, Microcephaly, Abnormal limb bone morphology, Limb ... ORPHA:2204
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... ORPHA:363417
Atelosteogenesis, Type Ii
Death in infancy, Sandal gap, Micromelia, Micrognathia, Bifid humerus, Lacunar halos around chond... OMIM:256050
Osteopenia, Sclerosis of hand bone, Micrognathia, Absent frontal sinuses, Hypoplastic vertebral b... OMIM:224300
Refractory Celiac Disease
Normocytic anemia, Elevated hepatic transaminase, Villous atrophy, Macrocytic anemia, Malabsorpti... ORPHA:398063
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Dyssegmental Dysplasia, Silverman-Handmaker Type
Broad long bones, Miscarriage, Micromelia, Bowing of the legs, Micrognathia, Hypoplastic ilia, Fl... ORPHA:1865
Osteopenia, Cerebral white matter atrophy, Cortical dysplasia, Abnormal long bone morphology, Sho... ORPHA:356961
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Long fibula, Narrow greater sciatic notch, Narrow chest, Short p... OMIM:250220
Chondrodysplasia With Joint Dislocations, Gpapp Type
Short metacarpal, Short stature, Micrognathia, Recurrent patellar dislocation, Capitate-hamate fu... OMIM:614078
Microcephaly, Short Stature, And Limb Abnormalities
11 pairs of ribs, Short metacarpal, Brachydactyly, Short stature, Microcephaly, Hypoplasia of the... OMIM:617604
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Pectus excavatum, Metap... OMIM:608728
Spondyloepimetaphyseal Dysplasia, Missouri Type
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... ORPHA:93356
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... ORPHA:474
Epiphyseal Dysplasia, Multiple, 1
Epiphyseal dysplasia, Short metacarpal, Pes planus, Joint stiffness, Avascular necrosis of the ca... OMIM:132400
Holt-Oram Syndrome
Syndactyly, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absent thumb, Absent radi... OMIM:142900
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m... ORPHA:2021
Seckel Syndrome 4
11 pairs of ribs, Steep acetabular roof OMIM:613676
Short Stature, Dauber-Argente Type
Long toe, Delayed eruption of teeth, Osteopenia, Arachnodactyly, Short stature, Decreased fibular... OMIM:619489
Missing ribs, Short thorax, Narrow pelvis bone, Enlarged thorax, Absent or minimally ossified ver... ORPHA:66637
W Syndrome
Hypoplasia of the ulna, Pes planus, Radial bowing, Broad uvula, Elbow dislocation, Metatarsus add... ORPHA:2804
Diamond-Blackfan Anemia 11
Hypoplasia of the ulna, Bilateral cleft palate, Short stature, Absent thumb, Unilateral radial ap... OMIM:614900
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Epiphyseal dysplasia, Generalized joint laxity, Patellar hypoplasia, Short femoral neck, Irregula... OMIM:609325
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Ulnar bowing, Femoral bowing, Thin ribs, ... OMIM:620076
Thrombocytopenia-Absent Radius Syndrome
Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus... ORPHA:3320
Ophthalmomandibulomelic Dysplasia
Obtuse angle of mandible, Camptodactyly of finger, Micromelia, Elbow dislocation, Temporomandibul... ORPHA:2741
Brachyolmia Type 1, Hobaek Type
Osteopenia, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short... OMIM:271530
Acro-Renal-Mandibular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Hypoplastic scapulae, Aplasia/Hypoplasia of the tongue... ORPHA:958
Spondyloepiphyseal Dysplasia, Kimberley Type
Osteoarthritis, Short thorax, Abnormal epiphysis morphology, Micromelia ORPHA:93283
Laurin-Sandrow Syndrome
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... OMIM:135750
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Postaxial polydactyly, Lateral clavicle hook, Preaxial polydactyly, Femoral bowing, S... OMIM:615503
Ulna Metaphyseal Dysplasia Syndrome
Abnormal dental morphology, Abnormal morphology of ulna, Short stature, Abnormality of the dentit... ORPHA:1837
Three M Syndrome 1
Pes planus, Scapular winging, Pectus excavatum, Short thorax, Hip dislocation, Slender long bone,... OMIM:273750
Congenital Radioulnar Synostosis
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... ORPHA:3269
Odontochondrodysplasia 1
Genu recurvatum, Micromelia, Metaphyseal widening, Short phalanx of finger, Long philtrum, Genu v... OMIM:184260
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Postaxial ... OMIM:614091
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... ORPHA:1836
Ruvalcaba Syndrome
Short metacarpal, Dental crowding, Short stature, Micromelia, Microcephaly, Limited elbow extensi... OMIM:180870
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Hypoplasia of the ulna, Death in infancy, Lateral clavicle hook, Horizontal ribs, Early ossificat... OMIM:208500
Boomerang Dysplasia
Severe short stature, Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia OMIM:112310
Metaphyseal Acroscyphodysplasia
Brachydactyly, Cone-shaped metacarpal epiphyses, Bowing of the long bones, Micromelia, Coxa valga... ORPHA:1240
Ivic Syndrome
Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab... OMIM:147750
3M Syndrome
Delayed eruption of teeth, Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, ... ORPHA:2616
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Short stature, Single transverse palmar crease, Microcephaly, Adducted thumb, Notched primary cen... OMIM:620062
Otoonychoperoneal Syndrome
Knee flexion contracture, Hip contracture, Ankle flexion contracture, Aplasia/Hypoplasia of the f... OMIM:259780
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Partial agenesis of the corpus callosum, Cone-shaped epiphys... ORPHA:420794
Campomelic Dysplasia
Irregular dentition, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patel... OMIM:114290
Thalidomide Embryopathy
Aplasia/Hypoplasia of the thumb, Short stature, Aplasia/hypoplasia of the humerus, Preaxial hand ... ORPHA:3312
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Hypoplasia of the ulna, Abnormality of the dentition, Large for gestational age, Deep... OMIM:615398
Bowing of the long bones, Brachydactyly, Micromelia, Short toe, Abnormality of the elbow, Abnorma... ORPHA:429
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... OMIM:252600
Autosomal Recessive Omodysplasia
Abnormal morphology of the radius, Rhizomelia, Short stature, Micromelia, Micrognathia, Elbow dis... ORPHA:93329
Postaxial Acrofacial Dysostosis
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Micrognathia, Non-midline cle... ORPHA:246
Atelosteogenesis Type I
Short femur, Rhizomelia, Micrognathia, Abnormal ossification involving the femoral head and neck,... ORPHA:1190
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Microcephal... ORPHA:1352
Rhizomelic Chondrodysplasia Punctata
Rhizomelia, Short stature, Abnormality of the dentition, Microcephaly, Growth delay, Epiphyseal s... ORPHA:177
Craniosynostosis With Fibular Aplasia
Single transverse palmar crease, Craniosynostosis, Fibular aplasia OMIM:218550
Camptomelic Syndrome, Long-Limb Type
Bowing of the long bones, Micromelia OMIM:211990
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Micrognathia, Triangular shaped distal phalanges of the hand, Abn... OMIM:271665
Craniofacial hyperostosis, Abnormal intramembranous ossification, Micromelia, Short iliac bones, ... ORPHA:3003
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Joint stiffness, Hypoplastic ilia, Abnormal sa... ORPHA:1860
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the h... ORPHA:3344
Thoracopelvic Dysostosis
Short ribs OMIM:187770
Blomstrand Lethal Chondrodysplasia
Short metacarpal, Bowing of the long bones, Rhizomelia, Increased bone mineral density, Aplastic ... ORPHA:50945
Laron Syndrome
Limb undergrowth, Short long bone OMIM:262500
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Short femur, Bilateral cleft lip, Absent septum pellucidum, Cleft upper l... OMIM:601357
Rothmund-Thomson Syndrome
Osteopenia, Selective tooth agenesis, Reduced bone mineral density, Microdontia, Hypoplasia of th... ORPHA:2909
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Bowing of the long bones, Abnormal tibia morphology, Abnormal femur mo... ORPHA:1802
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Osteopathia striata, Cran... OMIM:300373
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Bowing of the long bones, Micrognathia, Metaphyseal chondrodysplasia... OMIM:156400
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia, Chorioretinal coloboma, Malabsorption ORPHA:1116
Atelosteogenesis Type Iii
Absent humerus, Epiphyseal stippling of the humerus, Micrognathia, Abnormality of the humerus, Sh... ORPHA:56305
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increa... OMIM:267700
Metatropic Dysplasia
Camptodactyly of finger, Micromelia, Abnormal enchondral ossification, Joint stiffness, Abnormal ... ORPHA:2635
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Micrognathia, Porencephalic cyst, Tibial bowing, Lobulated tongue, ... OMIM:277170
Greenberg Dysplasia
Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathia, Abnormal pelvis bone ossific... ORPHA:1426
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Fractures of the long bones, Osteolysis, Femoral bowing, I... OMIM:602080
Genu recurvatum, Short long bone, Limb undergrowth, Thoracic hypoplasia, Brachydactyly ORPHA:221054
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Bowing of the long bones, Camptodactyly of finger, Abnormal metacarpal morphology, Abnormal epiph... ORPHA:2631
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... OMIM:113310
Orofaciodigital Syndrome X
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Retrogna... OMIM:165590
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... OMIM:602111
Juberg-Hayward Syndrome
Toe syndactyly, Severe short stature, Microcephaly, Short thumb, Hypoplasia of the radius, Abnorm... ORPHA:2319
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:615895
Orofaciodigital Syndrome Type 2
Micrognathia, Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tib... ORPHA:2751
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Mandibular prognathia, Hypoplasia of the radius, Nonopposable triphalangeal thumb, Micromelia ORPHA:2252
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Pericardial effusion, Func... ORPHA:90362
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Abnormal paranasal sinus morphology, Intestinal lymphangiectasia, Lymphopenia, Hypoproteinemia OMIM:207731
Lymphangiectasia, Intestinal
Intestinal lymphangiectasia, Lymphopenia, Neonatal hypoproteinemia, Malabsorption OMIM:152800
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Pes planus, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses of the phal... OMIM:609616
Melnick-Needles Syndrome
Obtuse angle of mandible, Micrognathia, Tibial bowing, Cone-shaped epiphyses of the phalanges of ... OMIM:309350
Omodysplasia 1
Short humerus, Rhizomelia, Increased fibular diameter, Malar flattening, Micrognathia, Limited kn... OMIM:258315
Cousin Syndrome
Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of the 5th finger... OMIM:260660
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Severe short stature, Coxa valga, Metaphyseal sclerosis, Metaphyseal widening, Bro... OMIM:609052
Cohen Syndrome
Single transverse palmar crease, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Sh... OMIM:216550
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hepatomegaly, Intestinal obstruction, Malabsorption, Iron deficiency anemia, Abnormal intestine m... OMIM:226300
Chromosome 17P13.3, Telomeric, Duplication Syndrome
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... OMIM:612576
Thrombocytopenia-Absent Radius Syndrome
Edema of the dorsum of feet, Cerebellar vermis hypoplasia, Micrognathia, Femoral bowing, Abnormal... OMIM:274000
Robin Sequence-Oligodactyly Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormality of the dentition, Hand oligodactyly, Cleft... ORPHA:3104
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... OMIM:600373
Temtamy Preaxial Brachydactyly Syndrome
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... OMIM:605282
Mesomelic Dysplasia, Nievergelt Type
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... ORPHA:2633
Ellis-Van Creveld Syndrome
Capitate-hamate fusion, Postaxial hand polydactyly, Genu valgum, Postaxial foot polydactyly, Pect... OMIM:225500
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous syndactyly, Narr... OMIM:600920
Postaxial Acrofacial Dysostosis
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Micrognathia, Conical tooth, Shor... OMIM:263750
Blount Disease
Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal tibial metaphysis... ORPHA:2768
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Small bowel diverticula, Fat malabsorption, Jejunoileal ulceration OMIM:221400
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Micrognathia, Short palm, Duplication of the distal ... OMIM:268310
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Talipes, Micromelia, Micrognathia, Aplasia of the ulna, ... ORPHA:2879
Ménétrier Disease
Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M... ORPHA:2494
Hyperparathyroidism, Transient Neonatal
Osteopenia, Short femur, Metaphyseal spurs, Recurrent fractures, Undulate ribs, Femoral bowing, T... OMIM:618188
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Elevated hepatic transaminase, Sp... OMIM:603553
Coxoauricular Syndrome
Micromelia, Hip dislocation, Abnormal femur morphology, Reduced bone mineral density, Abnormal pe... ORPHA:1508
Hepatomegaly, Hypogonadotropic hypogonadism, Abnormal hemoglobin, Microcytic anemia, Splenomegaly... ORPHA:848
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Diastema, Hypoplasia of the radius, Nonopposable triphalangeal thumb OMIM:179250
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Recurrent fractures, Beaded ribs, Absent ossification of c... OMIM:166210
Congenital Varicella Syndrome
Intrauterine growth retardation, Cerebral cortical atrophy, Micromelia, Microcephaly ORPHA:291
Pelvis-Shoulder Dysplasia
Syndactyly, Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Long clavicles, ... ORPHA:2839
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Small for gestational age, Short stature, Reduced bone mineral density, Delayed ossification of c... OMIM:618392
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Elbow d... ORPHA:1275
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Short metacarpal, Brachydactyly, Sandal gap, Short stature, Postaxial polydactyly, Carious teeth,... OMIM:617102
Brachydactyly, Aplasia/hypoplasia of the extremities, Flared metaphysis, Short long bone, Short f... OMIM:146000
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Interphalangeal joint contracture of finger, Ankle flexion contracture, Cupped r... ORPHA:1145
Cranioectodermal Dysplasia 1
Single transverse palmar crease, High, narrow palate, High palate, Widely spaced teeth, Microdont... OMIM:218330
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bowing of the long bones, Bulging epiphyses, Thin bony cortex, Rickets of the lower limbs, Delaye... OMIM:600785
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Cerebellar vermis hypoplasia, Single transverse palmar crease, Micromelia, Micrognathia, Delayed ... OMIM:210710
Death in infancy, Bowing of the long bones, Micromelia, Coxa valga, Cone-shaped epiphysis, Joint ... ORPHA:166272
Otopalatodigital Syndrome Type 2
Micrognathia, Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Synostosis ... ORPHA:90652
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Joint stiffness, Joint hyperflexibility, Acromesomelia, Sprengel anomal... ORPHA:40
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Mandibular prognathia, Micrognathia, Knee dislocation, High palate, Amelogenesis imperfecta, Micr... OMIM:618363
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... ORPHA:988
Mesomelia-Synostoses Syndrome
Micromelia, Micrognathia, High, narrow palate, Abnormal tibia morphology, Abnormal femur morpholo... ORPHA:2496
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Broad femoral neck, Distal tibial bowing, Metaphyseal chondrodysplasia... OMIM:156500
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges of fingers, Bi... OMIM:601356
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Death in infancy, Toe syndactyly, Elbow flexion contracture, 2-3 toe... OMIM:616809
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... ORPHA:1570
Meier-Gorlin Syndrome 1
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Pe... OMIM:224690
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Biliary Atresia, Extrahepatic
Elevated hepatic transaminase, Hepatomegaly, Atretic gallbladder, Extrahepatic biliary duct atres... OMIM:210500
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Wide anterior fontanel, Preaxial poly... OMIM:617925
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hypoproteinemia, Hepatomegaly, Elevated hepatic transaminase, Ventricular septal defect, Elevated... ORPHA:26793
Hall-Riggs Syndrome
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Microcephaly, Downtu... ORPHA:2107
Acromesomelic Dysplasia, Hunter-Thompson Type
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Joint stiffness, Short t... ORPHA:968
Nievergelt Syndrome
Tarsal synostosis, Genu valgum, Radioulnar synostosis, Talipes equinovarus, Mesomelia, Metatarsal... OMIM:163400
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly OMIM:228250
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... ORPHA:846
Stuve-Wiedemann Syndrome 1
Single transverse palmar crease, Micrognathia, Femoral bowing, Tibial bowing, Knee flexion contra... OMIM:601559
Weismann-Netter Syndrome
Severe short stature, Anterior tibial bowing, Squared iliac bones, Lateral femoral bowing, Fibula... OMIM:112350
Terminal Osseous Dysplasia
Syndactyly, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone ossification, Sh... OMIM:300244
Postaxial Oligodactyly, Tetramelic
Radial bowing, Aplasia of the 5th metacarpal, Absent fifth metatarsal, Postaxial hand polydactyly... OMIM:176240
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Decreased HDL cholesterol concentration, Acute hyper... ORPHA:247585
Cleidocranial Dysplasia 1
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Narrow c... OMIM:119600
Acrorenal-Mandibular Syndrome
Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Micrognathia, Missing ribs, Split h... OMIM:200980
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
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder dislocation, High palate, Widely space... OMIM:143095
Achondrogenesis Type 1B
Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Disproportionat... ORPHA:93298
Meier-Gorlin Syndrome 3
Microretrognathia, Absent sternal ossification, Micrognathia, Aplasia/Hypoplasia of the patella, ... OMIM:613803
Diastrophic Dysplasia
Bowing of the long bones, Cerebral calcification, Increased bone mineral density, Camptodactyly o... ORPHA:628
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Aplasia of the distal phalanx of the 2nd finger, 2-5 finger syndactyly, Syndactyly, Finger syndac... OMIM:308050
Distal Deletion 17Q
Aplasia/Hypoplasia of the thumb, Abnormality of the philtrum, Short stature, Micromelia, Microcep... ORPHA:1597
Epiphyseal Dysplasia, Baumann Type
Carpal bone aplasia, Epiphyseal dysplasia, Joint laxity, Pes planus, Hypoplasia of the femoral he... OMIM:610797
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A... ORPHA:2378
Ollier Disease
Micromelia, Joint stiffness, Abnormal cartilage morphology, Osteolysis, Multiple enchondromatosis... ORPHA:296
Congenital Disorder Of Glycosylation, Type Ij
Elevated hepatic transaminase, Micrognathia, Cryptorchidism, Jaundice, Hypoproteinemia OMIM:608093
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Short stature, Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Sti... OMIM:119800
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Cholestasis, Progressive Familial Intrahepatic, 1
Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Conjugated hyperbilirubinemia, Spl... OMIM:211600
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormal morphology of ulna ORPHA:1447
Dengue Fever
Gastrointestinal hemorrhage, Hepatomegaly, Leukopenia, Gingival bleeding, Hypoproteinemia, Thromb... ORPHA:99828
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Preaxial hand polydactyly, Postaxial hand polydactyly, Pectus carinatum, D... OMIM:263520
Platyspondylic Dysplasia, Torrance Type
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... ORPHA:85166
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Bowing of the legs, Short toe, Short thorax, Short foot, Short long bone, T... OMIM:269860
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Micrognathia, Porencephalic cyst, Glossoptosis, High palate, Clinodac... OMIM:117650
Multiple Epiphyseal Dysplasia Type 4
Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High p... ORPHA:93307
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Cupped ribs, Metaphyseal widening, Coxa vara, Tibi... OMIM:608940
Marshall Syndrome
Micrognathia, Absent frontal sinuses, Knee osteoarthritis, Meningeal calcification, Clinodactyly ... OMIM:154780
Chédiak-Higashi Syndrome
Vacuolated lymphocytes, Periodontitis, Neutropenia, Abnormal natural killer cell morphology, Hypo... ORPHA:167
Achondrogenesis Type 1A
Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Macrocephaly, S... ORPHA:93299
Anemia, Congenital Dyserythropoietic, Type Ii
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Jaundice, Cholelithiasis OMIM:224100
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Reduced bone mineral density, Pectus carinatum, Abnormal sternum... ORPHA:2911
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Short stature, Upper limb undergrowth, Short foot, Toe clinodactyly, Abnormal cortical bone morph... ORPHA:166277
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Brachydactyly, Abnormal acetabulum morphology, Long clavicles, P... ORPHA:397715
Omenn Syndrome
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... OMIM:603554
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Short ... OMIM:304120
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypoplastic iliac wing, Prominent fingertip pa... OMIM:277590
Pyruvate Kinase Deficiency Of Red Cells
Hepatomegaly, Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kina... OMIM:266200
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Radial Hemimelia
Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H... ORPHA:93321
Acrorenal Syndrome
Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split hand, Cleft palate, A... ORPHA:971
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Broad femoral neck, Thenar muscle atrophy, Flat capital femoral epiphysis, Tapered fi... ORPHA:157965
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Failure to thrive, Small for gestational age, Short stature, Hypoplasia of the maxill... OMIM:608154
Catel-Manzke Syndrome
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Clinodactyly of the 5th... OMIM:616145
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... ORPHA:2502
C Syndrome
Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Short stature, Micromelia, ... OMIM:211750
Rhizomelic Syndrome, Urbach Type
Abnormality of the knee, Brachydactyly, Rhizomelia, Short stature, Micrognathia, Abnormality of t... ORPHA:3098
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Short stature, Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, T... ORPHA:2928
Severe short stature, Micromelia, Micrognathia, Abnormal enchondral ossification, Abnormality of ... ORPHA:932
Duane-Radial Ray Syndrome
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Pes ... OMIM:607323
Congenital Alveolar Capillary Dysplasia
Absent gallbladder, Aganglionic megacolon, Intestinal malrotation, Bicuspid aortic valve, Ventric... ORPHA:210122
Mesomelic Dysplasia, Kantaputra Type
Carpal synostosis, Radial bowing, Tarsal synostosis, Mesomelia OMIM:156232
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Proximal placement of thumb, Absent radius, Hand polydactyly, Neonatal death OMIM:314390
Beta-Thalassemia Intermedia
Hypoparathyroidism, Hepatomegaly, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia... ORPHA:231222
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Short long bone, Widely spa... OMIM:619479
Multiple Epiphyseal Dysplasia, Beighton Type
Thoracic scoliosis, Osteoarthritis, Coxa vara, Pedal edema, Double-layered patella, Abnormal hip ... ORPHA:166011
Caroli Disease
Cholangiocarcinoma, Hepatomegaly, Liver abscess, Cholangitis, Portal hypertension, Conjugated hyp... ORPHA:53035
Rhizomelia, Thoracic hypoplasia, Bowing of the legs, Short proximal phalanx of finger, Hip joint ... ORPHA:15
Osteogenesis Imperfecta, Type Xvi
Microretrognathia, Angulated humerus, Bowing of the long bones, Osteopenia, Rhizomelia, Recurrent... OMIM:616229
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Hypoplastic sacrum, Capitate-hamate fusion, Short metata... OMIM:271650
Cardiomegaly OMIM:227150
Gallbladder Disease 1
Elevated hepatic transaminase, Cholangitis, Portal inflammation, Jaundice, Cholestasis, Hepatic f... OMIM:600803
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Broad long bones, Dental crowding, Short stature, Fifth finger distal ... OMIM:257850
Nail-Patella Syndrome
Pes planus, Glenoid fossa hypoplasia, Pectus excavatum, Patellar aplasia, Hypoplastic radial head... OMIM:161200
Liver Disease, Severe Congenital
Chronic gastritis, Cardiomegaly, Biliary hyperplasia, Micrognathia, Leukopenia, Protein-losing en... OMIM:619991
Becker Nevus Syndrome
Micromelia, Lower limb asymmetry, Pectus excavatum, Abnormal tibia morphology, Rib fusion, Pectus... ORPHA:64755
Nephrotic Syndrome, Type 1
Pyloric stenosis, Hyperlipidemia, Gastroesophageal reflux, Hypoalbuminemia, Hypoproteinemia OMIM:256300
Dysostosis, Stanescu Type
Bowing of the long bones, Cerebral calcification, Increased bone mineral density, Abnormal dental... ORPHA:1798
Cerebellofaciodental Syndrome
Pes planus, Short stature, Single transverse palmar crease, Tapered finger, Hypoplasia of the pon... OMIM:616202
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bowing, Pectus... OMIM:223800
Congenital Bile Acid Synthesis Defect Type 4
Elevated hepatic transaminase, Giant cell hepatitis, Elevated circulating creatine kinase concent... ORPHA:79095
Radial Ray Hypoplasia With Choanal Atresia
Short thumb, Small thenar eminence, Hypoplasia of the radius, Distally placed thumb OMIM:179270
Baller-Gerold Syndrome
Limited elbow movement, Micrognathia, Patellar hypoplasia, High palate, Agenesis of corpus callos... OMIM:218600
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Acholic stools, Cholestatic liver disease, Cirrhosis, He... ORPHA:65682
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... OMIM:235700
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Thin bony cortex, Enlargement of the ankles, Recurrent fractures, Bowing of th... OMIM:600081
Atkin-Flaitz Syndrome
Short stature, Abnormality of the dentition, Obesity, Thick vermilion border, Everted lower lip v... ORPHA:1193
Fanconi Anemia, Complementation Group W
Microcephaly, Absent thumb, Hypoplasia of the radius, Growth delay, Abnormal radial ray morpholog... OMIM:617784
Thanatophoric Dysplasia, Glasgow Variant
Neonatal death, Micromelia OMIM:273680
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ... OMIM:251450
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Severe short stature, Bowed humerus, Short tubular bones of the hand, Tibi... OMIM:184253
Ulbright-Hodes Syndrome
Short humerus, Short metacarpal, Micrognathia, Postnatal growth retardation, Narrow mouth, Humero... ORPHA:3404
Hypertrichosis Cubiti
Severe short stature, Rhizomelia, Micromelia, Microcephaly, Abnormality of the elbow ORPHA:2220
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/hypoplasia of the extremities, Femoral bowing, Foot oligodactyly, High palate, Aplasia/Hy... OMIM:276820
Autosomal Dominant Spondylocostal Dysostosis
Missing ribs, Short thorax, Abnormal rib morphology, Posterior rib fusion, Spina bifida occulta ORPHA:1797
Gastritis, Familial Giant Hypertrophic
Hypoproteinemia, Giant hypertrophic gastritis OMIM:137280
Protoporphyria, Erythropoietic, X-Linked
Elevated hepatic transaminase, Iron deficiency anemia, Cholelithiasis, Increased erythrocyte prot... OMIM:300752
Alagille Syndrome
Hypoplasia of the ulna, Micrognathia, Short philtrum, Delayed puberty, Clinodactyly of the 5th fi... ORPHA:52
Caffey Disease
Joint hypermobility, Bowing of the legs, Tibial bowing, Periosteal thickening of long tubular bon... OMIM:114000
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Micrognathia, Abnormality... ORPHA:3035
Acromesomelic Dysplasia 1
Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the radius, Short met... OMIM:602875
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Abnormal rib morphology, Redu... ORPHA:1488
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Intellectual Developmental Disorder, Autosomal Dominant 53
Short femur, Microcephaly, Thick corpus callosum, Genu valgum, Wide mouth, Growth delay, Macrocep... OMIM:617798
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Short stature, Gingival overgrowth, R... ORPHA:508542
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Broad hallux, Rhiz... OMIM:618019
Chondrodysplasia-Difference Of Sex Development Syndrome
Short metacarpal, Broad long bones, Severe short stature, Micromelia, Microcephaly, Increased sku... ORPHA:1422
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Intrahepatic cholestasis, Biliary cirr... ORPHA:69663
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Metaphyseal widening, Delayed epiphyseal ossification, Short met... ORPHA:93314
Otospondylomegaepiphyseal Dysplasia
Epiphyseal dysplasia, Short metacarpal, Abnormal pelvis bone morphology, Sandal gap, Abnormally o... ORPHA:1427
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Median cleft lip, Missing ribs, Abnormal... ORPHA:3186
Femoral-Facial Syndrome
Short fourth metatarsal, Limited elbow movement, Micrognathia, Short stature, Humeroradial synost... OMIM:134780
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... OMIM:603903
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Impaired neutrophil bactericidal activity, Pigment gallstones, Spontaneous hemolytic crises, Sple... OMIM:613470
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Micrognathia, Flexion contracture, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Short tib... ORPHA:96334
Fanconi Anemia, Complementation Group O
Short stature, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, ... OMIM:613390
Spondyloepimetaphyseal Dysplasia, Shohat Type
Joint laxity, Thoracic hypoplasia, Bowing of the legs, Metaphyseal widening, Delayed epiphyseal o... ORPHA:93352
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Malabsorpt... OMIM:240300
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Portal hypertension, Conjugated hyp... ORPHA:567983
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... ORPHA:3202
Zimmermann-Laband Syndrome
Hepatomegaly, Abnormal external genitalia, Micrognathia, Splenomegaly, Supernumerary tooth, Gingi... ORPHA:3473
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Microc... ORPHA:3121
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
Martinez-Frias Syndrome
Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Hy... OMIM:601346
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Osteopenia, High palate, Short phalanx of finger, Bifid uvula, Dislocated radial head, Short meta... OMIM:612350
Fanconi Anemia, Complementation Group U
Absent thumb, Absent radius, Microcephaly, Hypoplasia of the radius, Aplasia of the 1st metacarpa... OMIM:617247
Mitchell-Riley Syndrome
Absent gallbladder, Jejunal atresia, Intestinal malrotation, Malabsorption, Biliary atresia, Chol... OMIM:615710
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Short humerus, Short femur, Short stature, Microcephaly, Tapered finger, Hypoplasia of the corpus... OMIM:618367
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Prominence of the premaxilla, Abnormality of the male genitalia, H... OMIM:614886
Intellectual Disability And Myopathy Syndrome
Thin upper lip vermilion, Congenital hip dislocation, Achilles tendon contracture, Dental maloccl... OMIM:619719
Dyschondrosteosis-Nephritis Syndrome
Radial bowing, Short stature, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia of... ORPHA:1765
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Hi... ORPHA:763
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal basal ganglia MRI signal intensity, Short humerus, Short femur, Microcephaly, Orofacial ... ORPHA:17
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Pigment gallstones, Microcytic anemia, Abnormality of the sple... ORPHA:232
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Micromelia, Microcephaly, Decreased calvarial ossification, Disproportionate short-limb short sta... ORPHA:2772
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
11 pairs of ribs, Broad hallux, Clinodactyly of the 2nd toe, Micrognathia, Coxa valga, Short dist... OMIM:620073
Osteoglophonic Dysplasia
Mandibular prognathia, Osteopenia, Hypoplasia of the maxilla, Short metatarsal, Eruption failure,... OMIM:166250
Grant Syndrome
Tibial bowing, Down-sloping shoulders, Micrognathia OMIM:138930
Verloove Vanhorick-Brubakk Syndrome
Finger syndactyly, Tarsal synostosis, Micrognathia, Abnormal femur morphology, Abnormal pelvic gi... ORPHA:3429
Fatco Syndrome
Finger syndactyly, Short stature, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absen... ORPHA:2492